Incidental Mutation 'R7237:Gm4787'
| ID |
562920 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm4787
|
| Ensembl Gene |
ENSMUSG00000072974 |
| Gene Name |
predicted gene 4787 |
| Synonyms |
|
| MMRRC Submission |
045344-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R7237 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
81423765-81426238 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 81424442 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 572
(V572A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077390
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062182]
[ENSMUST00000110340]
[ENSMUST00000164386]
[ENSMUST00000166723]
|
| AlphaFold |
B2RUD9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062182
AA Change: V572A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000077390
Gene: ENSMUSG00000072974
AA Change: V572A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
46 |
163 |
1.5e-19 |
PFAM |
|
Pfam:Reprolysin
|
213 |
406 |
4.6e-18 |
PFAM |
|
DISIN
|
425 |
500 |
2e-33 |
SMART |
|
ACR
|
501 |
644 |
2.83e-53 |
SMART |
|
transmembrane domain
|
714 |
736 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110340
|
| SMART Domains |
Protein: ENSMUSP00000105969
Gene: ENSMUSG00000091803
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COX16
|
16 |
74 |
6.6e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164386
|
| SMART Domains |
Protein: ENSMUSP00000132941
Gene: ENSMUSG00000021139
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
21 |
100 |
6.16e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166723
|
| SMART Domains |
Protein: ENSMUSP00000130935
Gene: ENSMUSG00000091803
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COX16
|
16 |
73 |
6.9e-16 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
98% (83/85) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap21 |
A |
T |
2: 20,854,783 (GRCm39) |
C1536* |
probably null |
Het |
| Armc9 |
C |
A |
1: 86,092,571 (GRCm39) |
Q169K |
possibly damaging |
Het |
| Aspm |
T |
A |
1: 139,405,667 (GRCm39) |
M1518K |
possibly damaging |
Het |
| AU018091 |
A |
G |
7: 3,209,006 (GRCm39) |
I360T |
probably benign |
Het |
| BB014433 |
C |
A |
8: 15,091,765 (GRCm39) |
V363L |
probably benign |
Het |
| Bcam |
T |
C |
7: 19,503,232 (GRCm39) |
|
probably null |
Het |
| Cacna1g |
T |
C |
11: 94,328,705 (GRCm39) |
S1071G |
probably benign |
Het |
| Card9 |
A |
T |
2: 26,246,787 (GRCm39) |
S354T |
probably benign |
Het |
| Ccdc87 |
A |
G |
19: 4,889,790 (GRCm39) |
N94S |
probably benign |
Het |
| Cdc27 |
A |
G |
11: 104,408,245 (GRCm39) |
V555A |
probably benign |
Het |
| Coro1a |
T |
A |
7: 126,299,478 (GRCm39) |
D411V |
probably benign |
Het |
| Cybrd1 |
GGTCCTGCAC |
G |
2: 70,948,553 (GRCm39) |
|
probably benign |
Het |
| Cyth1 |
A |
T |
11: 118,076,321 (GRCm39) |
I95N |
probably damaging |
Het |
| Dnah7b |
A |
T |
1: 46,179,126 (GRCm39) |
E933V |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 6,993,966 (GRCm39) |
I3968N |
probably benign |
Het |
| Fam184a |
T |
C |
10: 53,510,489 (GRCm39) |
|
probably benign |
Het |
| Fat3 |
G |
A |
9: 16,288,510 (GRCm39) |
L338F |
probably damaging |
Het |
| Fcgr3 |
A |
G |
1: 170,886,870 (GRCm39) |
L18P |
probably damaging |
Het |
| Gbp5 |
T |
C |
3: 142,213,461 (GRCm39) |
V459A |
probably benign |
Het |
| Gja4 |
A |
T |
4: 127,205,956 (GRCm39) |
M269K |
probably benign |
Het |
| Grin2d |
G |
T |
7: 45,515,600 (GRCm39) |
S131* |
probably null |
Het |
| Gys1 |
A |
G |
7: 45,104,586 (GRCm39) |
D671G |
probably benign |
Het |
| Haspin |
T |
C |
11: 73,027,712 (GRCm39) |
N459S |
probably benign |
Het |
| Hdac10 |
G |
T |
15: 89,009,580 (GRCm39) |
Q451K |
probably benign |
Het |
| Hdac9 |
T |
C |
12: 34,424,139 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
A |
G |
1: 150,598,394 (GRCm39) |
V1636A |
probably damaging |
Het |
| Hpca |
A |
G |
4: 129,012,407 (GRCm39) |
L43P |
probably damaging |
Het |
| Hycc2 |
G |
A |
1: 58,569,107 (GRCm39) |
Q491* |
probably null |
Het |
| Insm1 |
C |
A |
2: 146,064,448 (GRCm39) |
A88E |
possibly damaging |
Het |
| Itga9 |
A |
G |
9: 118,465,670 (GRCm39) |
K175E |
probably benign |
Het |
| Kif13a |
A |
G |
13: 46,962,632 (GRCm39) |
|
probably null |
Het |
| Kif20b |
T |
A |
19: 34,928,005 (GRCm39) |
L1089H |
probably damaging |
Het |
| Lamp5 |
A |
T |
2: 135,901,755 (GRCm39) |
H152L |
probably benign |
Het |
| Lrp4 |
T |
C |
2: 91,303,528 (GRCm39) |
F76L |
probably benign |
Het |
| Magi3 |
T |
C |
3: 103,935,227 (GRCm39) |
D902G |
probably damaging |
Het |
| Map10 |
C |
T |
8: 126,397,963 (GRCm39) |
P452L |
probably benign |
Het |
| Mapk6 |
A |
G |
9: 75,304,895 (GRCm39) |
L174P |
probably damaging |
Het |
| Meak7 |
C |
T |
8: 120,489,054 (GRCm39) |
G410S |
probably damaging |
Het |
| Ndufa4 |
C |
T |
6: 11,906,018 (GRCm39) |
|
probably null |
Het |
| Nedd4 |
A |
T |
9: 72,632,346 (GRCm39) |
E393D |
probably benign |
Het |
| Nlrp4b |
G |
A |
7: 10,449,143 (GRCm39) |
V449I |
probably benign |
Het |
| Nufip2 |
T |
A |
11: 77,583,596 (GRCm39) |
N503K |
probably benign |
Het |
| Or10ac1 |
T |
C |
6: 42,515,581 (GRCm39) |
D125G |
probably damaging |
Het |
| Or6y1 |
C |
T |
1: 174,276,905 (GRCm39) |
R239C |
probably benign |
Het |
| P4ha1 |
A |
G |
10: 59,184,065 (GRCm39) |
T176A |
probably benign |
Het |
| Palm3 |
A |
G |
8: 84,756,117 (GRCm39) |
K543R |
probably benign |
Het |
| Parvg |
G |
A |
15: 84,225,557 (GRCm39) |
A302T |
probably benign |
Het |
| Pcdh15 |
A |
G |
10: 74,420,023 (GRCm39) |
D1227G |
possibly damaging |
Het |
| Pdzd8 |
C |
T |
19: 59,333,571 (GRCm39) |
G150D |
probably damaging |
Het |
| Pitpnm2 |
A |
G |
5: 124,263,360 (GRCm39) |
|
probably null |
Het |
| Pld5 |
T |
C |
1: 176,102,301 (GRCm39) |
Q47R |
possibly damaging |
Het |
| Ppp2r5d |
T |
C |
17: 46,997,206 (GRCm39) |
S329G |
possibly damaging |
Het |
| Prss56 |
T |
C |
1: 87,112,637 (GRCm39) |
V144A |
probably damaging |
Het |
| Psg28 |
A |
T |
7: 18,161,769 (GRCm39) |
Y245N |
possibly damaging |
Het |
| Ptpn3 |
C |
T |
4: 57,239,625 (GRCm39) |
V302I |
probably damaging |
Het |
| Ptprn2 |
A |
G |
12: 117,125,347 (GRCm39) |
H627R |
probably benign |
Het |
| Rasgrp2 |
A |
T |
19: 6,454,838 (GRCm39) |
H226L |
possibly damaging |
Het |
| Rbm20 |
C |
T |
19: 53,839,930 (GRCm39) |
T973M |
probably benign |
Het |
| Rigi |
T |
A |
4: 40,205,938 (GRCm39) |
I885F |
probably benign |
Het |
| Riok2 |
T |
A |
17: 17,598,045 (GRCm39) |
L44Q |
probably damaging |
Het |
| Rusc1 |
G |
T |
3: 88,998,805 (GRCm39) |
Q326K |
possibly damaging |
Het |
| Rxylt1 |
A |
T |
10: 121,917,523 (GRCm39) |
L330* |
probably null |
Het |
| Sart3 |
A |
T |
5: 113,892,307 (GRCm39) |
H397Q |
possibly damaging |
Het |
| Sec31b |
T |
A |
19: 44,506,147 (GRCm39) |
T920S |
probably damaging |
Het |
| Serpinb13 |
A |
G |
1: 106,926,679 (GRCm39) |
E225G |
probably damaging |
Het |
| Slc25a47 |
T |
C |
12: 108,821,386 (GRCm39) |
L165P |
probably damaging |
Het |
| Slc2a10 |
G |
A |
2: 165,357,197 (GRCm39) |
V286I |
probably benign |
Het |
| Slc39a13 |
G |
T |
2: 90,895,979 (GRCm39) |
T174N |
probably benign |
Het |
| Slc7a13 |
T |
A |
4: 19,839,364 (GRCm39) |
N322K |
probably benign |
Het |
| Stk38 |
T |
C |
17: 29,193,620 (GRCm39) |
T326A |
possibly damaging |
Het |
| Sult1a1 |
T |
C |
7: 126,272,622 (GRCm39) |
M244V |
probably benign |
Het |
| Tas2r144 |
C |
T |
6: 42,192,800 (GRCm39) |
T180I |
probably damaging |
Het |
| Tbc1d12 |
T |
A |
19: 38,887,346 (GRCm39) |
M366K |
probably benign |
Het |
| Terb1 |
T |
C |
8: 105,221,959 (GRCm39) |
I147V |
possibly damaging |
Het |
| Tnik |
T |
C |
3: 28,692,568 (GRCm39) |
Y820H |
probably damaging |
Het |
| Tnxb |
C |
A |
17: 34,901,170 (GRCm39) |
L995I |
possibly damaging |
Het |
| Trim34b |
A |
G |
7: 103,978,794 (GRCm39) |
T14A |
possibly damaging |
Het |
| Urb1 |
T |
C |
16: 90,588,054 (GRCm39) |
E418G |
probably damaging |
Het |
| Vmn1r12 |
T |
A |
6: 57,136,550 (GRCm39) |
C216S |
possibly damaging |
Het |
| Vmn2r90 |
T |
A |
17: 17,924,249 (GRCm39) |
V16E |
possibly damaging |
Het |
| Vps11 |
A |
T |
9: 44,265,803 (GRCm39) |
V492D |
probably damaging |
Het |
| Wdr62 |
A |
C |
7: 29,969,869 (GRCm39) |
|
probably null |
Het |
| Zc3h14 |
T |
A |
12: 98,746,408 (GRCm39) |
M539K |
probably benign |
Het |
| Zfp871 |
A |
T |
17: 32,994,289 (GRCm39) |
H295Q |
probably damaging |
Het |
|
| Other mutations in Gm4787 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01719:Gm4787
|
APN |
12 |
81,423,948 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL01916:Gm4787
|
APN |
12 |
81,424,218 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL02193:Gm4787
|
APN |
12 |
81,425,302 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02623:Gm4787
|
APN |
12 |
81,425,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02681:Gm4787
|
APN |
12 |
81,425,543 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL03257:Gm4787
|
APN |
12 |
81,424,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03410:Gm4787
|
APN |
12 |
81,425,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
F5770:Gm4787
|
UTSW |
12 |
81,424,341 (GRCm39) |
nonsense |
probably null |
|
|
PIT4362001:Gm4787
|
UTSW |
12 |
81,423,949 (GRCm39) |
missense |
probably benign |
|
|
R0070:Gm4787
|
UTSW |
12 |
81,425,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0128:Gm4787
|
UTSW |
12 |
81,424,521 (GRCm39) |
nonsense |
probably null |
|
|
R0220:Gm4787
|
UTSW |
12 |
81,425,422 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0304:Gm4787
|
UTSW |
12 |
81,425,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0513:Gm4787
|
UTSW |
12 |
81,425,086 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1761:Gm4787
|
UTSW |
12 |
81,423,950 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1809:Gm4787
|
UTSW |
12 |
81,425,303 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1853:Gm4787
|
UTSW |
12 |
81,425,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1854:Gm4787
|
UTSW |
12 |
81,425,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2030:Gm4787
|
UTSW |
12 |
81,425,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2063:Gm4787
|
UTSW |
12 |
81,425,694 (GRCm39) |
missense |
probably benign |
0.39 |
|
R2112:Gm4787
|
UTSW |
12 |
81,424,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2140:Gm4787
|
UTSW |
12 |
81,425,336 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2151:Gm4787
|
UTSW |
12 |
81,423,993 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2152:Gm4787
|
UTSW |
12 |
81,423,993 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2342:Gm4787
|
UTSW |
12 |
81,425,532 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2504:Gm4787
|
UTSW |
12 |
81,425,911 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4038:Gm4787
|
UTSW |
12 |
81,425,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4604:Gm4787
|
UTSW |
12 |
81,425,987 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4748:Gm4787
|
UTSW |
12 |
81,424,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4750:Gm4787
|
UTSW |
12 |
81,425,141 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4928:Gm4787
|
UTSW |
12 |
81,425,612 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4960:Gm4787
|
UTSW |
12 |
81,426,090 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4974:Gm4787
|
UTSW |
12 |
81,424,403 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5028:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5029:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5031:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5098:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5099:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5100:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5101:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5135:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5152:Gm4787
|
UTSW |
12 |
81,425,451 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5180:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5220:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5257:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5258:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5297:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5324:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5325:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5355:Gm4787
|
UTSW |
12 |
81,424,239 (GRCm39) |
nonsense |
probably null |
|
|
R5364:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5396:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5397:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5398:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5514:Gm4787
|
UTSW |
12 |
81,425,102 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5634:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5666:Gm4787
|
UTSW |
12 |
81,424,805 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5670:Gm4787
|
UTSW |
12 |
81,424,805 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5787:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5788:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6354:Gm4787
|
UTSW |
12 |
81,424,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6932:Gm4787
|
UTSW |
12 |
81,425,974 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7120:Gm4787
|
UTSW |
12 |
81,425,260 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7937:Gm4787
|
UTSW |
12 |
81,424,679 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8022:Gm4787
|
UTSW |
12 |
81,424,494 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8140:Gm4787
|
UTSW |
12 |
81,424,925 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8314:Gm4787
|
UTSW |
12 |
81,425,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8480:Gm4787
|
UTSW |
12 |
81,424,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8498:Gm4787
|
UTSW |
12 |
81,425,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8515:Gm4787
|
UTSW |
12 |
81,424,043 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9103:Gm4787
|
UTSW |
12 |
81,425,489 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9457:Gm4787
|
UTSW |
12 |
81,426,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9557:Gm4787
|
UTSW |
12 |
81,426,074 (GRCm39) |
nonsense |
probably null |
|
|
R9608:Gm4787
|
UTSW |
12 |
81,425,086 (GRCm39) |
missense |
probably benign |
0.03 |
|
V7580:Gm4787
|
UTSW |
12 |
81,424,341 (GRCm39) |
nonsense |
probably null |
|
|
V7581:Gm4787
|
UTSW |
12 |
81,424,341 (GRCm39) |
nonsense |
probably null |
|
|
V7582:Gm4787
|
UTSW |
12 |
81,424,341 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTTCCAGGGCCACAAGTTGC -3'
(R):5'- ATCATGGACGGAACTCCTTG -3'
Sequencing Primer
(F):5'- GGGCCACAAGTTGCACCATC -3'
(R):5'- GTTCTCCACTGGCAGTCTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation