Incidental Mutation 'R9526:Plch1'
| ID |
719203 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plch1
|
| Ensembl Gene |
ENSMUSG00000036834 |
| Gene Name |
phospholipase C, eta 1 |
| Synonyms |
Plcl3, PLCeta1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.244)
|
| Stock # |
R9526 (G1)
|
| Quality Score |
169.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
63603655-63806893 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to A
at 63758549 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135424
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048134]
[ENSMUST00000059973]
[ENSMUST00000084105]
[ENSMUST00000159188]
[ENSMUST00000159676]
[ENSMUST00000160638]
[ENSMUST00000162269]
[ENSMUST00000175947]
[ENSMUST00000177143]
|
| AlphaFold |
Q4KWH5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048134
|
| SMART Domains |
Protein: ENSMUSP00000047693
Gene: ENSMUSG00000036834
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
3 |
112 |
2.37e-6 |
SMART |
|
EFh
|
128 |
156 |
2.41e-4 |
SMART |
|
EFh
|
164 |
193 |
1.54e-2 |
SMART |
|
Pfam:EF-hand_like
|
198 |
280 |
2.2e-26 |
PFAM |
|
PLCXc
|
281 |
426 |
3.13e-71 |
SMART |
|
low complexity region
|
440 |
453 |
N/A |
INTRINSIC |
|
low complexity region
|
564 |
581 |
N/A |
INTRINSIC |
|
PLCYc
|
583 |
696 |
3.4e-49 |
SMART |
|
C2
|
715 |
823 |
5.47e-22 |
SMART |
|
low complexity region
|
979 |
997 |
N/A |
INTRINSIC |
|
low complexity region
|
1079 |
1091 |
N/A |
INTRINSIC |
|
low complexity region
|
1420 |
1435 |
N/A |
INTRINSIC |
|
low complexity region
|
1543 |
1557 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059973
|
| SMART Domains |
Protein: ENSMUSP00000058524
Gene: ENSMUSG00000036834
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
21 |
130 |
1.1e-8 |
SMART |
|
EFh
|
146 |
174 |
1.1e-6 |
SMART |
|
EFh
|
182 |
211 |
7.6e-5 |
SMART |
|
Pfam:EF-hand_like
|
216 |
298 |
4.5e-24 |
PFAM |
|
PLCXc
|
299 |
444 |
1.6e-73 |
SMART |
|
low complexity region
|
458 |
471 |
N/A |
INTRINSIC |
|
low complexity region
|
582 |
599 |
N/A |
INTRINSIC |
|
PLCYc
|
601 |
714 |
1.7e-51 |
SMART |
|
C2
|
733 |
841 |
3.7e-24 |
SMART |
|
low complexity region
|
1017 |
1035 |
N/A |
INTRINSIC |
|
low complexity region
|
1117 |
1129 |
N/A |
INTRINSIC |
|
low complexity region
|
1458 |
1473 |
N/A |
INTRINSIC |
|
low complexity region
|
1581 |
1595 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084105
|
| SMART Domains |
Protein: ENSMUSP00000081122
Gene: ENSMUSG00000036834
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
21 |
130 |
2.37e-6 |
SMART |
|
EFh
|
146 |
174 |
2.41e-4 |
SMART |
|
EFh
|
182 |
211 |
1.54e-2 |
SMART |
|
Pfam:EF-hand_like
|
216 |
298 |
2.4e-27 |
PFAM |
|
PLCXc
|
299 |
444 |
3.13e-71 |
SMART |
|
low complexity region
|
458 |
471 |
N/A |
INTRINSIC |
|
low complexity region
|
583 |
600 |
N/A |
INTRINSIC |
|
PLCYc
|
602 |
715 |
3.4e-49 |
SMART |
|
C2
|
734 |
842 |
5.47e-22 |
SMART |
|
low complexity region
|
1018 |
1036 |
N/A |
INTRINSIC |
|
low complexity region
|
1118 |
1130 |
N/A |
INTRINSIC |
|
low complexity region
|
1459 |
1474 |
N/A |
INTRINSIC |
|
low complexity region
|
1582 |
1596 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159188
|
| SMART Domains |
Protein: ENSMUSP00000124491
Gene: ENSMUSG00000036834
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1mai__
|
28 |
135 |
2e-29 |
SMART |
|
PDB:1MAI|A
|
31 |
135 |
1e-5 |
PDB |
|
Blast:PH
|
33 |
135 |
1e-72 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159676
|
| SMART Domains |
Protein: ENSMUSP00000124632
Gene: ENSMUSG00000036834
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
21 |
130 |
2.37e-6 |
SMART |
|
EFh
|
146 |
174 |
2.41e-4 |
SMART |
|
EFh
|
182 |
211 |
1.54e-2 |
SMART |
|
Pfam:EF-hand_like
|
216 |
298 |
1.8e-26 |
PFAM |
|
PLCXc
|
299 |
444 |
3.13e-71 |
SMART |
|
low complexity region
|
458 |
471 |
N/A |
INTRINSIC |
|
low complexity region
|
583 |
600 |
N/A |
INTRINSIC |
|
PLCYc
|
602 |
715 |
3.4e-49 |
SMART |
|
C2
|
734 |
842 |
5.47e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160638
|
| SMART Domains |
Protein: ENSMUSP00000123921
Gene: ENSMUSG00000036834
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
21 |
130 |
2.37e-6 |
SMART |
|
EFh
|
146 |
174 |
2.41e-4 |
SMART |
|
EFh
|
182 |
211 |
1.54e-2 |
SMART |
|
Pfam:EF-hand_like
|
216 |
298 |
5.3e-28 |
PFAM |
|
PLCXc
|
299 |
444 |
3.13e-71 |
SMART |
|
low complexity region
|
458 |
471 |
N/A |
INTRINSIC |
|
low complexity region
|
583 |
600 |
N/A |
INTRINSIC |
|
PLCYc
|
602 |
715 |
3.4e-49 |
SMART |
|
C2
|
734 |
842 |
5.47e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162269
|
| SMART Domains |
Protein: ENSMUSP00000124463
Gene: ENSMUSG00000036834
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
21 |
130 |
2.37e-6 |
SMART |
|
EFh
|
146 |
174 |
2.41e-4 |
SMART |
|
EFh
|
182 |
211 |
1.54e-2 |
SMART |
|
Pfam:EF-hand_like
|
216 |
298 |
1.7e-26 |
PFAM |
|
PLCXc
|
299 |
444 |
3.13e-71 |
SMART |
|
low complexity region
|
458 |
471 |
N/A |
INTRINSIC |
|
low complexity region
|
583 |
600 |
N/A |
INTRINSIC |
|
PLCYc
|
602 |
715 |
3.4e-49 |
SMART |
|
C2
|
734 |
842 |
5.47e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175947
|
| SMART Domains |
Protein: ENSMUSP00000135353
Gene: ENSMUSG00000036834
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
21 |
130 |
2.37e-6 |
SMART |
|
EFh
|
146 |
174 |
2.41e-4 |
SMART |
|
EFh
|
182 |
211 |
1.54e-2 |
SMART |
|
Pfam:EF-hand_like
|
216 |
298 |
1.2e-26 |
PFAM |
|
PLCXc
|
299 |
444 |
3.13e-71 |
SMART |
|
low complexity region
|
458 |
471 |
N/A |
INTRINSIC |
|
low complexity region
|
582 |
599 |
N/A |
INTRINSIC |
|
PLCYc
|
601 |
714 |
3.4e-49 |
SMART |
|
C2
|
733 |
841 |
5.47e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177143
|
| SMART Domains |
Protein: ENSMUSP00000135424
Gene: ENSMUSG00000036834
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
33 |
142 |
2.37e-6 |
SMART |
|
EFh
|
158 |
186 |
2.41e-4 |
SMART |
|
EFh
|
194 |
223 |
1.54e-2 |
SMART |
|
Pfam:EF-hand_like
|
228 |
310 |
2.3e-26 |
PFAM |
|
PLCXc
|
311 |
456 |
3.13e-71 |
SMART |
|
low complexity region
|
470 |
483 |
N/A |
INTRINSIC |
|
low complexity region
|
594 |
611 |
N/A |
INTRINSIC |
|
PLCYc
|
613 |
726 |
3.4e-49 |
SMART |
|
C2
|
745 |
853 |
5.47e-22 |
SMART |
|
low complexity region
|
1009 |
1027 |
N/A |
INTRINSIC |
|
low complexity region
|
1109 |
1121 |
N/A |
INTRINSIC |
|
low complexity region
|
1450 |
1465 |
N/A |
INTRINSIC |
|
low complexity region
|
1573 |
1587 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] PLCH1 is a member of the PLC-eta family of the phosphoinositide-specific phospholipase C (PLC) superfamily of enzymes that cleave phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) to generate second messengers inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) (Hwang et al., 2005 [PubMed 15702972]).[supplied by OMIM, Jun 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 103 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn1 |
A |
G |
12: 80,230,393 (GRCm39) |
L287S |
probably damaging |
Het |
| Adgrf1 |
A |
T |
17: 43,616,237 (GRCm39) |
Q292L |
possibly damaging |
Het |
| Arhgap32 |
A |
G |
9: 32,172,026 (GRCm39) |
D1602G |
probably benign |
Het |
| Atrnl1 |
C |
T |
19: 57,617,551 (GRCm39) |
P109S |
probably damaging |
Het |
| Camsap1 |
G |
A |
2: 25,843,962 (GRCm39) |
H230Y |
probably benign |
Het |
| Capns1 |
C |
T |
7: 29,891,612 (GRCm39) |
C144Y |
probably damaging |
Het |
| Ccdc17 |
G |
A |
4: 116,455,994 (GRCm39) |
V341I |
possibly damaging |
Het |
| Cd36 |
T |
C |
5: 18,002,033 (GRCm39) |
T323A |
probably damaging |
Het |
| Cdc14a |
CGCTGCTGCTGCTGCTGCTG |
CGCTGCTGCTGCTGCTG |
3: 116,087,509 (GRCm39) |
|
probably benign |
Het |
| Ckap2l |
G |
A |
2: 129,111,161 (GRCm39) |
Q679* |
probably null |
Het |
| Clec4g |
T |
A |
8: 3,768,565 (GRCm39) |
N93I |
probably benign |
Het |
| Cntnap2 |
T |
A |
6: 45,992,165 (GRCm39) |
L364Q |
probably damaging |
Het |
| Cul9 |
A |
G |
17: 46,841,026 (GRCm39) |
M748T |
probably benign |
Het |
| Dnah11 |
A |
T |
12: 118,150,711 (GRCm39) |
I349N |
probably damaging |
Het |
| Dnajc14 |
T |
A |
10: 128,642,260 (GRCm39) |
Y61N |
probably benign |
Het |
| Dock6 |
A |
T |
9: 21,713,802 (GRCm39) |
Y1909* |
probably null |
Het |
| Dock8 |
T |
A |
19: 25,165,739 (GRCm39) |
D1874E |
probably benign |
Het |
| Dpm1 |
A |
G |
2: 168,072,210 (GRCm39) |
S22P |
probably benign |
Het |
| Dysf |
T |
C |
6: 84,128,885 (GRCm39) |
L1385P |
probably damaging |
Het |
| Egf |
T |
C |
3: 129,491,421 (GRCm39) |
T859A |
probably benign |
Het |
| Eif2b1 |
A |
T |
5: 124,711,867 (GRCm39) |
S162T |
probably benign |
Het |
| Emilin1 |
T |
C |
5: 31,075,484 (GRCm39) |
L575P |
probably damaging |
Het |
| Erp27 |
T |
A |
6: 136,886,550 (GRCm39) |
Q161L |
probably benign |
Het |
| Fbxw10 |
C |
A |
11: 62,765,945 (GRCm39) |
D738E |
possibly damaging |
Het |
| Fcgbp |
T |
G |
7: 27,790,937 (GRCm39) |
C733G |
probably damaging |
Het |
| Fgb |
T |
A |
3: 82,957,122 (GRCm39) |
|
probably benign |
Het |
| Gata3os |
A |
T |
2: 9,887,634 (GRCm39) |
T12S |
unknown |
Het |
| Got1l1 |
G |
T |
8: 27,688,503 (GRCm39) |
Q283K |
probably benign |
Het |
| Grk2 |
G |
A |
19: 4,340,871 (GRCm39) |
R226C |
probably damaging |
Het |
| Hoxa10 |
T |
C |
6: 52,211,334 (GRCm39) |
D194G |
probably benign |
Het |
| Ipcef1 |
G |
A |
10: 6,840,620 (GRCm39) |
T363I |
probably damaging |
Het |
| Itga10 |
C |
A |
3: 96,564,273 (GRCm39) |
T922N |
probably damaging |
Het |
| Itgad |
T |
C |
7: 127,777,552 (GRCm39) |
I144T |
probably benign |
Het |
| Kat6b |
C |
A |
14: 21,567,564 (GRCm39) |
Q208K |
possibly damaging |
Het |
| Kidins220 |
T |
G |
12: 25,088,383 (GRCm39) |
L1042R |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,486,355 (GRCm39) |
S4733G |
probably damaging |
Het |
| Lrig3 |
A |
G |
10: 125,850,736 (GRCm39) |
I1101V |
probably benign |
Het |
| Lrp1 |
T |
A |
10: 127,431,229 (GRCm39) |
N311I |
probably damaging |
Het |
| Man2a1 |
A |
T |
17: 64,958,310 (GRCm39) |
K275I |
probably benign |
Het |
| Map3k10 |
T |
A |
7: 27,364,434 (GRCm39) |
N318I |
probably damaging |
Het |
| Map3k8 |
G |
A |
18: 4,333,869 (GRCm39) |
R408W |
probably damaging |
Het |
| Mast1 |
A |
G |
8: 85,647,805 (GRCm39) |
M523T |
probably damaging |
Het |
| Mast4 |
T |
C |
13: 102,873,593 (GRCm39) |
H1925R |
probably benign |
Het |
| Med12l |
C |
T |
3: 58,984,207 (GRCm39) |
S461L |
probably damaging |
Het |
| Mfap1a |
T |
C |
2: 121,333,237 (GRCm39) |
K65E |
probably damaging |
Het |
| Mical1 |
T |
C |
10: 41,358,602 (GRCm39) |
S507P |
probably benign |
Het |
| Miga2 |
T |
C |
2: 30,268,400 (GRCm39) |
V433A |
unknown |
Het |
| Mpdz |
T |
C |
4: 81,274,653 (GRCm39) |
T848A |
probably benign |
Het |
| Mycn |
A |
G |
12: 12,989,778 (GRCm39) |
V206A |
probably benign |
Het |
| Ndst1 |
G |
A |
18: 60,838,220 (GRCm39) |
Q342* |
probably null |
Het |
| Nectin1 |
A |
G |
9: 43,702,369 (GRCm39) |
M39V |
probably benign |
Het |
| Nectin4 |
A |
T |
1: 171,210,209 (GRCm39) |
R234* |
probably null |
Het |
| Ngb |
C |
G |
12: 87,145,317 (GRCm39) |
V113L |
possibly damaging |
Het |
| Nphp3 |
T |
A |
9: 103,913,337 (GRCm39) |
Y990N |
probably damaging |
Het |
| Nrdc |
T |
C |
4: 108,915,833 (GRCm39) |
|
probably null |
Het |
| Or10a2 |
A |
T |
7: 106,673,739 (GRCm39) |
K235* |
probably null |
Het |
| Or1e23 |
T |
A |
11: 73,407,351 (GRCm39) |
I225F |
probably damaging |
Het |
| Or5p60 |
T |
A |
7: 107,723,801 (GRCm39) |
Y223F |
probably benign |
Het |
| Osbpl6 |
A |
G |
2: 76,415,603 (GRCm39) |
Y655C |
probably damaging |
Het |
| Pcdhgb4 |
A |
G |
18: 37,855,882 (GRCm39) |
Q759R |
probably benign |
Het |
| Pcsk4 |
T |
C |
10: 80,161,800 (GRCm39) |
D164G |
probably damaging |
Het |
| Pde4d |
T |
A |
13: 110,071,915 (GRCm39) |
I303N |
probably damaging |
Het |
| Pdf |
T |
A |
8: 107,774,972 (GRCm39) |
M87L |
probably benign |
Het |
| Pigb |
A |
G |
9: 72,941,840 (GRCm39) |
S140P |
probably damaging |
Het |
| Plxna1 |
G |
T |
6: 89,319,633 (GRCm39) |
D557E |
probably benign |
Het |
| Polr2e |
C |
T |
10: 79,872,792 (GRCm39) |
V149M |
probably benign |
Het |
| Polr3a |
A |
T |
14: 24,503,313 (GRCm39) |
C1174S |
probably benign |
Het |
| Prb1c |
T |
A |
6: 132,338,891 (GRCm39) |
N109I |
unknown |
Het |
| Psmd2 |
T |
A |
16: 20,474,369 (GRCm39) |
S308R |
probably benign |
Het |
| Ptger1 |
T |
A |
8: 84,396,002 (GRCm39) |
V353E |
probably damaging |
Het |
| Ptprc |
A |
G |
1: 137,996,111 (GRCm39) |
M940T |
probably benign |
Het |
| Pus7l |
T |
C |
15: 94,425,781 (GRCm39) |
N540S |
probably damaging |
Het |
| Rap1gds1 |
T |
A |
3: 138,756,317 (GRCm39) |
I13L |
probably benign |
Het |
| Rasl10b |
A |
T |
11: 83,303,590 (GRCm39) |
N49I |
probably damaging |
Het |
| Rftn1 |
A |
T |
17: 50,301,237 (GRCm39) |
N537K |
probably benign |
Het |
| Rnase4 |
A |
G |
14: 51,342,645 (GRCm39) |
Y123C |
probably damaging |
Het |
| Rnf181 |
A |
C |
6: 72,338,302 (GRCm39) |
N26K |
probably benign |
Het |
| Rnf31 |
G |
A |
14: 55,836,269 (GRCm39) |
|
probably null |
Het |
| Rpusd3 |
C |
G |
6: 113,393,200 (GRCm39) |
C304S |
unknown |
Het |
| Rsf1 |
CGGC |
CGGCGGCGGGGGC |
7: 97,229,139 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
C |
A |
2: 112,664,270 (GRCm39) |
V1694L |
probably benign |
Het |
| Sanbr |
T |
C |
11: 23,559,098 (GRCm39) |
Y372C |
probably damaging |
Het |
| Sephs2 |
T |
C |
7: 126,872,346 (GRCm39) |
D249G |
probably damaging |
Het |
| Serpina10 |
A |
G |
12: 103,583,217 (GRCm39) |
I409T |
probably damaging |
Het |
| Serpina5 |
C |
T |
12: 104,069,403 (GRCm39) |
A205V |
probably damaging |
Het |
| Sfr1 |
T |
A |
19: 47,723,453 (GRCm39) |
V319E |
probably damaging |
Het |
| Skil |
T |
A |
3: 31,171,639 (GRCm39) |
Y542N |
probably benign |
Het |
| Slc15a5 |
T |
C |
6: 138,049,954 (GRCm39) |
T154A |
probably benign |
Het |
| Slc27a2 |
T |
A |
2: 126,429,846 (GRCm39) |
L618Q |
probably damaging |
Het |
| Slc6a6 |
A |
T |
6: 91,726,808 (GRCm39) |
Y483F |
probably benign |
Het |
| Sprr1b |
T |
C |
3: 92,344,443 (GRCm39) |
I144M |
probably benign |
Het |
| Stat5a |
T |
A |
11: 100,771,161 (GRCm39) |
V580E |
|
Het |
| Tnk1 |
C |
T |
11: 69,746,011 (GRCm39) |
D305N |
probably damaging |
Het |
| Tox2 |
A |
G |
2: 163,164,930 (GRCm39) |
*523W |
probably null |
Het |
| Trav12-2 |
A |
G |
14: 53,854,085 (GRCm39) |
N20D |
probably benign |
Het |
| Trav16 |
T |
A |
14: 53,981,046 (GRCm39) |
N78K |
probably damaging |
Het |
| Trf |
C |
T |
9: 103,104,130 (GRCm39) |
A78T |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,711,543 (GRCm39) |
|
probably benign |
Het |
| Vmn2r67 |
T |
A |
7: 84,785,834 (GRCm39) |
M724L |
probably benign |
Het |
| Vmn2r94 |
A |
T |
17: 18,477,261 (GRCm39) |
F383L |
probably benign |
Het |
| Vwa2 |
T |
C |
19: 56,895,208 (GRCm39) |
S461P |
probably benign |
Het |
| Zfp991 |
G |
A |
4: 147,264,327 (GRCm39) |
G568E |
probably damaging |
Het |
| Zfpl1 |
A |
G |
19: 6,134,440 (GRCm39) |
F15S |
probably damaging |
Het |
|
| Other mutations in Plch1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01397:Plch1
|
APN |
3 |
63,639,150 (GRCm39) |
splice site |
probably null |
|
|
IGL01542:Plch1
|
APN |
3 |
63,639,070 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01999:Plch1
|
APN |
3 |
63,660,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02153:Plch1
|
APN |
3 |
63,688,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02203:Plch1
|
APN |
3 |
63,606,160 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02220:Plch1
|
APN |
3 |
63,606,382 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02259:Plch1
|
APN |
3 |
63,630,170 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02268:Plch1
|
APN |
3 |
63,606,704 (GRCm39) |
makesense |
probably null |
|
|
IGL02411:Plch1
|
APN |
3 |
63,605,177 (GRCm39) |
splice site |
probably null |
|
|
IGL02472:Plch1
|
APN |
3 |
63,609,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02477:Plch1
|
APN |
3 |
63,660,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02503:Plch1
|
APN |
3 |
63,605,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02800:Plch1
|
APN |
3 |
63,605,899 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL03167:Plch1
|
APN |
3 |
63,630,165 (GRCm39) |
splice site |
probably benign |
|
|
IGL03182:Plch1
|
APN |
3 |
63,610,015 (GRCm39) |
nonsense |
probably null |
|
|
IGL03197:Plch1
|
APN |
3 |
63,660,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03251:Plch1
|
APN |
3 |
63,691,423 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
BB009:Plch1
|
UTSW |
3 |
63,609,402 (GRCm39) |
missense |
probably benign |
0.05 |
|
BB019:Plch1
|
UTSW |
3 |
63,609,402 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0335:Plch1
|
UTSW |
3 |
63,618,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0347:Plch1
|
UTSW |
3 |
63,660,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0631:Plch1
|
UTSW |
3 |
63,606,640 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0687:Plch1
|
UTSW |
3 |
63,623,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0738:Plch1
|
UTSW |
3 |
63,609,974 (GRCm39) |
intron |
probably benign |
|
|
R0883:Plch1
|
UTSW |
3 |
63,660,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1437:Plch1
|
UTSW |
3 |
63,604,954 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1678:Plch1
|
UTSW |
3 |
63,648,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1738:Plch1
|
UTSW |
3 |
63,626,659 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1929:Plch1
|
UTSW |
3 |
63,651,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1955:Plch1
|
UTSW |
3 |
63,662,688 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2078:Plch1
|
UTSW |
3 |
63,609,364 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2112:Plch1
|
UTSW |
3 |
63,630,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2158:Plch1
|
UTSW |
3 |
63,628,655 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2165:Plch1
|
UTSW |
3 |
63,605,903 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2259:Plch1
|
UTSW |
3 |
63,605,398 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2271:Plch1
|
UTSW |
3 |
63,651,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3110:Plch1
|
UTSW |
3 |
63,616,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3112:Plch1
|
UTSW |
3 |
63,616,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3407:Plch1
|
UTSW |
3 |
63,606,768 (GRCm39) |
unclassified |
probably benign |
|
|
R3408:Plch1
|
UTSW |
3 |
63,606,768 (GRCm39) |
unclassified |
probably benign |
|
|
R3791:Plch1
|
UTSW |
3 |
63,606,944 (GRCm39) |
missense |
probably benign |
|
|
R3793:Plch1
|
UTSW |
3 |
63,605,252 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3928:Plch1
|
UTSW |
3 |
63,675,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4211:Plch1
|
UTSW |
3 |
63,618,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4212:Plch1
|
UTSW |
3 |
63,778,180 (GRCm39) |
start gained |
probably benign |
|
|
R4223:Plch1
|
UTSW |
3 |
63,609,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4491:Plch1
|
UTSW |
3 |
63,648,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4589:Plch1
|
UTSW |
3 |
63,688,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4656:Plch1
|
UTSW |
3 |
63,611,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4701:Plch1
|
UTSW |
3 |
63,606,917 (GRCm39) |
splice site |
probably null |
|
|
R4716:Plch1
|
UTSW |
3 |
63,688,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4772:Plch1
|
UTSW |
3 |
63,660,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4902:Plch1
|
UTSW |
3 |
63,648,264 (GRCm39) |
intron |
probably benign |
|
|
R5058:Plch1
|
UTSW |
3 |
63,630,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5092:Plch1
|
UTSW |
3 |
63,606,131 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5093:Plch1
|
UTSW |
3 |
63,681,136 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5210:Plch1
|
UTSW |
3 |
63,607,199 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5368:Plch1
|
UTSW |
3 |
63,609,394 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5373:Plch1
|
UTSW |
3 |
63,605,499 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5374:Plch1
|
UTSW |
3 |
63,605,499 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5501:Plch1
|
UTSW |
3 |
63,615,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5606:Plch1
|
UTSW |
3 |
63,648,108 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5738:Plch1
|
UTSW |
3 |
63,681,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5835:Plch1
|
UTSW |
3 |
63,604,943 (GRCm39) |
missense |
probably benign |
|
|
R6106:Plch1
|
UTSW |
3 |
63,609,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6107:Plch1
|
UTSW |
3 |
63,609,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6108:Plch1
|
UTSW |
3 |
63,609,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6110:Plch1
|
UTSW |
3 |
63,606,279 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6116:Plch1
|
UTSW |
3 |
63,609,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6147:Plch1
|
UTSW |
3 |
63,630,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6195:Plch1
|
UTSW |
3 |
63,648,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6315:Plch1
|
UTSW |
3 |
63,688,811 (GRCm39) |
nonsense |
probably null |
|
|
R6316:Plch1
|
UTSW |
3 |
63,688,811 (GRCm39) |
nonsense |
probably null |
|
|
R6317:Plch1
|
UTSW |
3 |
63,688,811 (GRCm39) |
nonsense |
probably null |
|
|
R6318:Plch1
|
UTSW |
3 |
63,688,811 (GRCm39) |
nonsense |
probably null |
|
|
R6324:Plch1
|
UTSW |
3 |
63,688,811 (GRCm39) |
nonsense |
probably null |
|
|
R6325:Plch1
|
UTSW |
3 |
63,688,811 (GRCm39) |
nonsense |
probably null |
|
|
R6326:Plch1
|
UTSW |
3 |
63,688,811 (GRCm39) |
nonsense |
probably null |
|
|
R6479:Plch1
|
UTSW |
3 |
63,651,931 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6544:Plch1
|
UTSW |
3 |
63,758,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6767:Plch1
|
UTSW |
3 |
63,662,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6829:Plch1
|
UTSW |
3 |
63,604,939 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6891:Plch1
|
UTSW |
3 |
63,605,504 (GRCm39) |
missense |
probably benign |
|
|
R6893:Plch1
|
UTSW |
3 |
63,660,562 (GRCm39) |
nonsense |
probably null |
|
|
R6921:Plch1
|
UTSW |
3 |
63,615,155 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7298:Plch1
|
UTSW |
3 |
63,623,458 (GRCm39) |
nonsense |
probably null |
|
|
R7396:Plch1
|
UTSW |
3 |
63,606,375 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7420:Plch1
|
UTSW |
3 |
63,630,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7566:Plch1
|
UTSW |
3 |
63,688,663 (GRCm39) |
splice site |
probably null |
|
|
R7572:Plch1
|
UTSW |
3 |
63,648,105 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7649:Plch1
|
UTSW |
3 |
63,605,590 (GRCm39) |
nonsense |
probably null |
|
|
R7696:Plch1
|
UTSW |
3 |
63,662,726 (GRCm39) |
missense |
probably benign |
|
|
R7851:Plch1
|
UTSW |
3 |
63,605,855 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7853:Plch1
|
UTSW |
3 |
63,681,068 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7932:Plch1
|
UTSW |
3 |
63,609,402 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7983:Plch1
|
UTSW |
3 |
63,615,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8057:Plch1
|
UTSW |
3 |
63,605,557 (GRCm39) |
missense |
probably benign |
|
|
R8066:Plch1
|
UTSW |
3 |
63,618,478 (GRCm39) |
nonsense |
probably null |
|
|
R8206:Plch1
|
UTSW |
3 |
63,610,047 (GRCm39) |
splice site |
probably null |
|
|
R8678:Plch1
|
UTSW |
3 |
63,623,468 (GRCm39) |
nonsense |
probably null |
|
|
R8731:Plch1
|
UTSW |
3 |
63,605,059 (GRCm39) |
missense |
probably benign |
0.37 |
|
R8739:Plch1
|
UTSW |
3 |
63,778,106 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8853:Plch1
|
UTSW |
3 |
63,688,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8875:Plch1
|
UTSW |
3 |
63,618,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8945:Plch1
|
UTSW |
3 |
63,639,039 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8947:Plch1
|
UTSW |
3 |
63,691,547 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8953:Plch1
|
UTSW |
3 |
63,639,126 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9065:Plch1
|
UTSW |
3 |
63,674,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9068:Plch1
|
UTSW |
3 |
63,612,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9188:Plch1
|
UTSW |
3 |
63,639,075 (GRCm39) |
missense |
probably null |
1.00 |
|
R9238:Plch1
|
UTSW |
3 |
63,606,412 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9478:Plch1
|
UTSW |
3 |
63,606,825 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9539:Plch1
|
UTSW |
3 |
63,691,427 (GRCm39) |
missense |
probably null |
0.01 |
|
R9634:Plch1
|
UTSW |
3 |
63,605,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9643:Plch1
|
UTSW |
3 |
63,660,747 (GRCm39) |
missense |
|
|
|
R9659:Plch1
|
UTSW |
3 |
63,681,136 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9711:Plch1
|
UTSW |
3 |
63,615,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9788:Plch1
|
UTSW |
3 |
63,681,136 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9799:Plch1
|
UTSW |
3 |
63,605,591 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
RF018:Plch1
|
UTSW |
3 |
63,628,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0028:Plch1
|
UTSW |
3 |
63,651,930 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACTTGCCACATTTTACCAGAG -3'
(R):5'- CCTAGTCTAAGTAGGCACAGC -3'
Sequencing Primer
(F):5'- GCCACATTTTACCAGAGCTATTAAC -3'
(R):5'- CGCCTGCATTCCCACAGTAG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation