Incidental Mutation 'R7396:Plch1'
ID |
573797 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plch1
|
Ensembl Gene |
ENSMUSG00000036834 |
Gene Name |
phospholipase C, eta 1 |
Synonyms |
Plcl3, PLCeta1 |
MMRRC Submission |
045478-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.198)
|
Stock # |
R7396 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
63603655-63806893 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 63606375 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 1176
(N1176K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081122
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048134]
[ENSMUST00000059973]
[ENSMUST00000084105]
[ENSMUST00000159676]
[ENSMUST00000160638]
[ENSMUST00000162269]
[ENSMUST00000175947]
[ENSMUST00000177143]
|
AlphaFold |
Q4KWH5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000048134
AA Change: N1137K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000047693 Gene: ENSMUSG00000036834 AA Change: N1137K
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
AA Change: N1175K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000058524 Gene: ENSMUSG00000036834 AA Change: N1175K
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
AA Change: N1176K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000081122 Gene: ENSMUSG00000036834 AA Change: N1176K
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: 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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177143
AA Change: N1167K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000135424 Gene: ENSMUSG00000036834 AA Change: N1167K
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: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (79/79) |
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: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3830403N18Rik |
G |
T |
X: 55,184,140 (GRCm39) |
|
probably null |
Het |
Abcb5 |
A |
G |
12: 118,831,609 (GRCm39) |
Y1248H |
probably damaging |
Het |
Acacb |
A |
G |
5: 114,351,722 (GRCm39) |
D1153G |
possibly damaging |
Het |
Acsm3 |
T |
A |
7: 119,373,052 (GRCm39) |
L185H |
probably damaging |
Het |
Actr1a |
G |
A |
19: 46,368,068 (GRCm39) |
T293I |
probably benign |
Het |
Adig |
T |
C |
2: 158,347,836 (GRCm39) |
L50P |
unknown |
Het |
Ankrd28 |
A |
G |
14: 31,424,159 (GRCm39) |
S994P |
probably benign |
Het |
Ankrd35 |
T |
A |
3: 96,590,813 (GRCm39) |
D366E |
probably damaging |
Het |
Aqr |
A |
T |
2: 113,950,427 (GRCm39) |
Y927* |
probably null |
Het |
Asxl2 |
T |
A |
12: 3,492,529 (GRCm39) |
I38N |
probably damaging |
Het |
Atp9b |
T |
C |
18: 80,780,057 (GRCm39) |
I1092V |
|
Het |
B4galnt1 |
A |
G |
10: 127,007,485 (GRCm39) |
E462G |
possibly damaging |
Het |
BC048671 |
T |
A |
6: 90,280,273 (GRCm39) |
V63E |
probably damaging |
Het |
Bod1l |
A |
G |
5: 41,988,889 (GRCm39) |
V406A |
probably damaging |
Het |
Btn1a1 |
T |
G |
13: 23,645,668 (GRCm39) |
I234L |
probably benign |
Het |
Camk2b |
A |
C |
11: 5,928,432 (GRCm39) |
S436A |
probably benign |
Het |
Cc2d1a |
A |
T |
8: 84,870,374 (GRCm39) |
|
probably null |
Het |
Ces1b |
G |
T |
8: 93,789,757 (GRCm39) |
N390K |
probably benign |
Het |
Chpf |
T |
C |
1: 75,451,927 (GRCm39) |
Q671R |
probably benign |
Het |
Cspg4b |
T |
A |
13: 113,455,524 (GRCm39) |
S523R |
|
Het |
Dbr1 |
C |
A |
9: 99,465,443 (GRCm39) |
N340K |
probably damaging |
Het |
Dram1 |
T |
A |
10: 88,176,507 (GRCm39) |
T73S |
probably benign |
Het |
Efemp1 |
A |
T |
11: 28,817,501 (GRCm39) |
R39S |
possibly damaging |
Het |
Eif2b5 |
T |
G |
16: 20,324,887 (GRCm39) |
I515S |
possibly damaging |
Het |
Eif2d |
A |
T |
1: 131,094,111 (GRCm39) |
N434I |
probably benign |
Het |
Ercc6 |
C |
T |
14: 32,291,762 (GRCm39) |
T1042I |
probably benign |
Het |
Etl4 |
C |
T |
2: 20,803,449 (GRCm39) |
P1057L |
possibly damaging |
Het |
Fbxw16 |
T |
A |
9: 109,278,091 (GRCm39) |
N29I |
probably damaging |
Het |
Fbxw18 |
T |
C |
9: 109,517,954 (GRCm39) |
D344G |
probably benign |
Het |
Fgf15 |
G |
T |
7: 144,453,542 (GRCm39) |
V172L |
probably benign |
Het |
Fmod |
T |
C |
1: 133,967,978 (GRCm39) |
V6A |
probably benign |
Het |
Furin |
C |
A |
7: 80,047,862 (GRCm39) |
R86L |
probably benign |
Het |
Gabrr1 |
T |
C |
4: 33,160,207 (GRCm39) |
V297A |
probably damaging |
Het |
Gbp10 |
G |
A |
5: 105,384,015 (GRCm39) |
|
probably benign |
Het |
Helb |
T |
C |
10: 119,925,476 (GRCm39) |
D967G |
probably benign |
Het |
Hmcn1 |
T |
C |
1: 150,439,382 (GRCm39) |
T5601A |
possibly damaging |
Het |
Hsbp1l1 |
G |
T |
18: 80,276,634 (GRCm39) |
P70Q |
not run |
Het |
Hsd17b1 |
T |
C |
11: 100,970,033 (GRCm39) |
V155A |
probably damaging |
Het |
Ireb2 |
T |
A |
9: 54,789,617 (GRCm39) |
M97K |
possibly damaging |
Het |
Kcnj6 |
C |
A |
16: 94,563,306 (GRCm39) |
L397F |
probably benign |
Het |
Lcorl |
A |
T |
5: 46,014,801 (GRCm39) |
|
probably null |
Het |
Lgi2 |
A |
T |
5: 52,695,753 (GRCm39) |
I402N |
probably damaging |
Het |
Lrat |
T |
A |
3: 82,810,590 (GRCm39) |
R144* |
probably null |
Het |
Mfhas1 |
G |
T |
8: 36,057,353 (GRCm39) |
L609F |
probably damaging |
Het |
Mink1 |
T |
A |
11: 70,495,994 (GRCm39) |
I398K |
possibly damaging |
Het |
Muc5ac |
A |
T |
7: 141,362,152 (GRCm39) |
D1821V |
unknown |
Het |
Myh2 |
T |
C |
11: 67,085,554 (GRCm39) |
|
probably null |
Het |
Ncor1 |
T |
C |
11: 62,234,044 (GRCm39) |
E386G |
probably damaging |
Het |
Ndufaf3 |
C |
T |
9: 108,443,802 (GRCm39) |
V76M |
probably damaging |
Het |
Neurod4 |
T |
C |
10: 130,106,891 (GRCm39) |
T128A |
probably damaging |
Het |
Ogfod1 |
T |
A |
8: 94,765,615 (GRCm39) |
D59E |
probably benign |
Het |
Or2j6 |
C |
T |
7: 139,980,476 (GRCm39) |
R161H |
probably benign |
Het |
Or2w1b |
T |
C |
13: 21,300,477 (GRCm39) |
V205A |
probably benign |
Het |
Or52n2b |
C |
T |
7: 104,565,558 (GRCm39) |
S315N |
probably benign |
Het |
Pcdh15 |
T |
A |
10: 74,466,522 (GRCm39) |
V1513D |
probably benign |
Het |
Pclo |
C |
A |
5: 14,589,902 (GRCm39) |
T734K |
unknown |
Het |
Phc2 |
A |
G |
4: 128,641,954 (GRCm39) |
R759G |
probably benign |
Het |
Plec |
T |
A |
15: 76,059,089 (GRCm39) |
Y3616F |
probably damaging |
Het |
Ptpn11 |
G |
T |
5: 121,282,707 (GRCm39) |
T426N |
probably benign |
Het |
Rictor |
A |
G |
15: 6,816,462 (GRCm39) |
T1245A |
not run |
Het |
Rilp |
T |
C |
11: 75,401,712 (GRCm39) |
V164A |
probably damaging |
Het |
Rnf39 |
A |
T |
17: 37,257,971 (GRCm39) |
T168S |
probably damaging |
Het |
Rptor |
C |
G |
11: 119,763,181 (GRCm39) |
Q922E |
probably benign |
Het |
Sall1 |
A |
T |
8: 89,759,396 (GRCm39) |
L236Q |
probably damaging |
Het |
Skint7 |
A |
G |
4: 111,845,324 (GRCm39) |
T379A |
probably benign |
Het |
Spata22 |
C |
A |
11: 73,236,702 (GRCm39) |
T336N |
probably damaging |
Het |
Spata31 |
T |
C |
13: 65,068,547 (GRCm39) |
S232P |
probably benign |
Het |
Spink5 |
T |
A |
18: 44,110,722 (GRCm39) |
C98S |
possibly damaging |
Het |
Stard6 |
T |
C |
18: 70,633,506 (GRCm39) |
V171A |
possibly damaging |
Het |
Tex9 |
A |
T |
9: 72,388,072 (GRCm39) |
|
probably null |
Het |
Traf7 |
T |
C |
17: 24,728,519 (GRCm39) |
D621G |
probably damaging |
Het |
Trak1 |
C |
T |
9: 121,277,973 (GRCm39) |
T353M |
possibly damaging |
Het |
Trim68 |
A |
T |
7: 102,327,569 (GRCm39) |
Y461* |
probably null |
Het |
Usp1 |
A |
G |
4: 98,814,688 (GRCm39) |
|
probably benign |
Het |
Vmn2r42 |
T |
A |
7: 8,195,641 (GRCm39) |
I502F |
probably benign |
Het |
Wbp4 |
C |
A |
14: 79,714,261 (GRCm39) |
G84C |
probably damaging |
Het |
Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
Het |
Zfp787 |
A |
G |
7: 6,135,106 (GRCm39) |
*382Q |
probably null |
Het |
Zfp831 |
G |
T |
2: 174,487,002 (GRCm39) |
C559F |
possibly damaging |
Het |
Zgpat |
G |
C |
2: 181,007,882 (GRCm39) |
A140P |
probably benign |
Het |
Zscan4e |
T |
A |
7: 11,041,002 (GRCm39) |
Y290F |
probably benign |
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 |
|
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 |
R9526:Plch1
|
UTSW |
3 |
63,758,549 (GRCm39) |
intron |
probably benign |
|
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'- TGGTGGTCTCAACACTAGAGAG -3'
(R):5'- CTGTCCGGAAGCGTTCTTTC -3'
Sequencing Primer
(F):5'- CCTGGGAAAGACCATGCTTG -3'
(R):5'- CGGAAGCGTTCTTTCTCAAAG -3'
|
Posted On |
2019-09-13 |