Incidental Mutation 'R9711:Plch1'
ID |
730135 |
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 # |
R9711 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
63603655-63806893 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 63615176 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 774
(D774V)
|
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 damaging
Transcript: ENSMUST00000048134
AA Change: D755V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000047693 Gene: ENSMUSG00000036834 AA Change: D755V
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 damaging
Transcript: ENSMUST00000059973
AA Change: D773V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000058524 Gene: ENSMUSG00000036834 AA Change: D773V
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 damaging
Transcript: ENSMUST00000084105
AA Change: D774V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000081122 Gene: ENSMUSG00000036834 AA Change: D774V
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 damaging
Transcript: ENSMUST00000159676
AA Change: D774V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124632 Gene: ENSMUSG00000036834 AA Change: D774V
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 damaging
Transcript: ENSMUST00000160638
AA Change: D774V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000123921 Gene: ENSMUSG00000036834 AA Change: D774V
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 damaging
Transcript: ENSMUST00000162269
AA Change: D774V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124463 Gene: ENSMUSG00000036834 AA Change: D774V
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 |
|
SMART Domains |
Protein: ENSMUSP00000135353 Gene: ENSMUSG00000036834 AA Change: D773V
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 damaging
Transcript: ENSMUST00000177143
AA Change: D785V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000135424 Gene: ENSMUSG00000036834 AA Change: D785V
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: 99.0%
|
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: 87 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc12 |
T |
C |
8: 87,275,388 (GRCm39) |
D430G |
probably damaging |
Het |
Adgrf1 |
T |
C |
17: 43,621,580 (GRCm39) |
S606P |
possibly damaging |
Het |
Afap1 |
A |
G |
5: 36,141,540 (GRCm39) |
N475D |
probably damaging |
Het |
Ahnak2 |
A |
G |
12: 112,739,468 (GRCm39) |
S1535P |
possibly damaging |
Het |
Akt1 |
G |
T |
12: 112,624,885 (GRCm39) |
H194N |
possibly damaging |
Het |
Api5 |
T |
A |
2: 94,251,812 (GRCm39) |
Q396L |
possibly damaging |
Het |
Aplp2 |
T |
C |
9: 31,083,303 (GRCm39) |
N148S |
probably benign |
Het |
Asb3 |
A |
G |
11: 31,031,400 (GRCm39) |
Y340C |
probably damaging |
Het |
Bbox1 |
A |
T |
2: 110,098,581 (GRCm39) |
M332K |
probably damaging |
Het |
Cabin1 |
A |
T |
10: 75,579,090 (GRCm39) |
S449T |
probably benign |
Het |
Carns1 |
A |
G |
19: 4,216,007 (GRCm39) |
V725A |
possibly damaging |
Het |
Cdkn1b |
A |
G |
6: 134,898,058 (GRCm39) |
K59R |
possibly damaging |
Het |
Cdv3 |
A |
T |
9: 103,233,539 (GRCm39) |
I212K |
probably damaging |
Het |
Clec14a |
T |
A |
12: 58,314,432 (GRCm39) |
I397F |
probably damaging |
Het |
Cnnm1 |
A |
G |
19: 43,483,469 (GRCm39) |
I950V |
possibly damaging |
Het |
Ddi2 |
A |
G |
4: 141,422,734 (GRCm39) |
M326T |
probably benign |
Het |
Dhx30 |
T |
C |
9: 109,914,103 (GRCm39) |
T1065A |
probably benign |
Het |
Eif3c |
A |
T |
7: 126,146,674 (GRCm39) |
M808K |
possibly damaging |
Het |
Evi2 |
G |
T |
11: 79,406,971 (GRCm39) |
H201Q |
possibly damaging |
Het |
Exoc4 |
A |
G |
6: 33,452,991 (GRCm39) |
T494A |
unknown |
Het |
Fam83f |
T |
A |
15: 80,574,819 (GRCm39) |
M242K |
probably damaging |
Het |
Fat4 |
T |
C |
3: 39,055,374 (GRCm39) |
Y4198H |
probably benign |
Het |
Fcgbp |
C |
A |
7: 27,793,000 (GRCm39) |
N1001K |
probably benign |
Het |
Gda |
G |
T |
19: 21,400,449 (GRCm39) |
A164E |
probably damaging |
Het |
Gm19410 |
T |
C |
8: 36,279,493 (GRCm39) |
V1786A |
possibly damaging |
Het |
Gm45871 |
A |
G |
18: 90,609,069 (GRCm39) |
N82S |
probably benign |
Het |
Gnas |
T |
A |
2: 174,141,392 (GRCm39) |
S580T |
unknown |
Het |
Gprin1 |
G |
A |
13: 54,886,714 (GRCm39) |
P520L |
probably benign |
Het |
Gramd4 |
C |
T |
15: 86,014,751 (GRCm39) |
R433C |
probably damaging |
Het |
Ighv5-12 |
T |
A |
12: 113,665,958 (GRCm39) |
T47S |
probably benign |
Het |
Itprid1 |
T |
G |
6: 55,864,018 (GRCm39) |
S115A |
probably damaging |
Het |
Kdm5a |
T |
A |
6: 120,367,658 (GRCm39) |
L451Q |
probably damaging |
Het |
Kif12 |
T |
A |
4: 63,084,126 (GRCm39) |
R624S |
probably benign |
Het |
Lepr |
T |
A |
4: 101,592,851 (GRCm39) |
Y155* |
probably null |
Het |
Lnx2 |
T |
A |
5: 146,961,376 (GRCm39) |
I519F |
probably damaging |
Het |
Marchf7 |
T |
A |
2: 60,060,175 (GRCm39) |
S101T |
probably damaging |
Het |
Miox |
A |
G |
15: 89,220,785 (GRCm39) |
D230G |
probably damaging |
Het |
Morc2a |
T |
A |
11: 3,600,381 (GRCm39) |
M1K |
probably null |
Het |
Mtus1 |
T |
C |
8: 41,536,222 (GRCm39) |
N498S |
probably damaging |
Het |
Mxd1 |
T |
A |
6: 86,645,554 (GRCm39) |
R46W |
probably damaging |
Het |
Ndufa11 |
G |
C |
17: 57,024,843 (GRCm39) |
A2P |
possibly damaging |
Het |
Necab2 |
C |
T |
8: 120,198,513 (GRCm39) |
H362Y |
probably damaging |
Het |
Nphp4 |
G |
A |
4: 152,623,434 (GRCm39) |
V703I |
possibly damaging |
Het |
Nup54 |
T |
C |
5: 92,582,218 (GRCm39) |
N31S |
unknown |
Het |
Or13a23-ps1 |
T |
A |
7: 140,118,497 (GRCm39) |
S22R |
probably benign |
Het |
Or1ad6 |
T |
C |
11: 50,860,316 (GRCm39) |
L157P |
probably damaging |
Het |
Or1e34 |
A |
T |
11: 73,778,696 (GRCm39) |
C167* |
probably null |
Het |
Or8b4 |
A |
C |
9: 37,830,066 (GRCm39) |
T38P |
probably damaging |
Het |
P2rx2 |
T |
C |
5: 110,490,388 (GRCm39) |
E109G |
possibly damaging |
Het |
Pcdha7 |
T |
C |
18: 37,107,409 (GRCm39) |
S145P |
probably damaging |
Het |
Pdlim5 |
A |
T |
3: 141,948,529 (GRCm39) |
V586E |
probably damaging |
Het |
Pex5l |
T |
C |
3: 33,136,204 (GRCm39) |
E5G |
probably benign |
Het |
Plekhg3 |
A |
T |
12: 76,611,726 (GRCm39) |
D335V |
possibly damaging |
Het |
Pop1 |
A |
G |
15: 34,530,227 (GRCm39) |
H905R |
probably benign |
Het |
Ppm1k |
T |
C |
6: 57,492,720 (GRCm39) |
T189A |
probably damaging |
Het |
Pramel13 |
A |
G |
4: 144,122,517 (GRCm39) |
L9P |
probably damaging |
Het |
Recql5 |
A |
G |
11: 115,784,367 (GRCm39) |
V911A |
probably damaging |
Het |
Rnf145 |
T |
A |
11: 44,415,830 (GRCm39) |
L15* |
probably null |
Het |
Rpl13a |
A |
G |
7: 44,776,673 (GRCm39) |
V29A |
probably benign |
Het |
Rps6ka5 |
A |
G |
12: 100,540,250 (GRCm39) |
V491A |
probably benign |
Het |
Setbp1 |
T |
C |
18: 78,900,142 (GRCm39) |
H1175R |
probably benign |
Het |
Setd5 |
T |
C |
6: 113,093,063 (GRCm39) |
S372P |
probably damaging |
Het |
Slc1a3 |
T |
C |
15: 8,675,177 (GRCm39) |
E276G |
probably damaging |
Het |
Slc36a2 |
T |
C |
11: 55,070,169 (GRCm39) |
N136S |
probably benign |
Het |
Spag1 |
G |
A |
15: 36,190,683 (GRCm39) |
|
probably null |
Het |
Spon1 |
A |
C |
7: 113,387,685 (GRCm39) |
T81P |
probably damaging |
Het |
Sv2b |
A |
T |
7: 74,856,238 (GRCm39) |
D17E |
probably benign |
Het |
Tasor2 |
A |
G |
13: 3,649,667 (GRCm39) |
V44A |
probably benign |
Het |
Tax1bp1 |
C |
T |
6: 52,704,215 (GRCm39) |
T65I |
probably damaging |
Het |
Tenm2 |
C |
A |
11: 35,915,341 (GRCm39) |
K2065N |
probably damaging |
Het |
Ticam2 |
T |
C |
18: 46,693,658 (GRCm39) |
D143G |
probably damaging |
Het |
Tmem132d |
T |
C |
5: 127,869,579 (GRCm39) |
E585G |
possibly damaging |
Het |
Tnfrsf8 |
C |
T |
4: 145,019,668 (GRCm39) |
|
probably null |
Het |
Trim44 |
C |
T |
2: 102,230,813 (GRCm39) |
G73R |
unknown |
Het |
Trpc3 |
C |
T |
3: 36,692,713 (GRCm39) |
D760N |
possibly damaging |
Het |
Tspan9 |
T |
A |
6: 127,942,715 (GRCm39) |
M171L |
probably benign |
Het |
Ugt2b37 |
A |
G |
5: 87,402,532 (GRCm39) |
F33S |
possibly damaging |
Het |
Vav2 |
A |
T |
2: 27,159,027 (GRCm39) |
V734E |
probably damaging |
Het |
Vmn1r214 |
A |
G |
13: 23,218,508 (GRCm39) |
M1V |
probably null |
Het |
Vmn1r24 |
A |
T |
6: 57,932,804 (GRCm39) |
V238E |
probably damaging |
Het |
Vmn2r107 |
A |
G |
17: 20,577,262 (GRCm39) |
Q420R |
probably damaging |
Het |
Vmn2r31 |
G |
A |
7: 7,387,085 (GRCm39) |
P829S |
probably damaging |
Het |
Xpo6 |
A |
G |
7: 125,712,873 (GRCm39) |
F703L |
probably benign |
Het |
Zfp442 |
T |
A |
2: 150,250,207 (GRCm39) |
H565L |
possibly damaging |
Het |
Zfp950 |
A |
T |
19: 61,116,000 (GRCm39) |
D2E |
probably damaging |
Het |
Zfp992 |
T |
A |
4: 146,551,345 (GRCm39) |
S355R |
probably damaging |
Het |
Zwilch |
A |
T |
9: 64,063,303 (GRCm39) |
F309Y |
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 |
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 |
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'- CCTGAGTGCCTATGTGTGTTAGTAC -3'
(R):5'- AGCATGCAGTAAAAGTCAAGTGTTG -3'
Sequencing Primer
(F):5'- AGCGACTGACTTTTTATCAATGTG -3'
(R):5'- TGGCAATAGCACTTCCTC -3'
|
Posted On |
2022-10-06 |