Incidental Mutation 'R9457:Gm4787'
| ID |
714672 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm4787
|
| Ensembl Gene |
ENSMUSG00000072974 |
| Gene Name |
predicted gene 4787 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R9457 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
81423765-81426238 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 81426020 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 46
(E46V)
|
| 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: E46V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077390
Gene: ENSMUSG00000072974
AA Change: E46V
| 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: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930009A15Rik |
T |
C |
10: 115,414,236 (GRCm39) |
L54P |
unknown |
Het |
| Ablim3 |
A |
G |
18: 61,978,920 (GRCm39) |
S204P |
probably benign |
Het |
| Acadl |
A |
G |
1: 66,892,400 (GRCm39) |
V141A |
probably benign |
Het |
| Ace3 |
A |
G |
11: 105,885,687 (GRCm39) |
D31G |
probably benign |
Het |
| Acte1 |
T |
C |
7: 143,437,713 (GRCm39) |
V137A |
possibly damaging |
Het |
| Adam11 |
T |
G |
11: 102,660,724 (GRCm39) |
V85G |
probably benign |
Het |
| Adarb1 |
A |
T |
10: 77,157,982 (GRCm39) |
M155K |
possibly damaging |
Het |
| Arhgap10 |
G |
A |
8: 78,111,415 (GRCm39) |
T376M |
probably benign |
Het |
| Bod1l |
G |
T |
5: 41,979,310 (GRCm39) |
T668K |
probably damaging |
Het |
| Ccdc87 |
A |
G |
19: 4,891,659 (GRCm39) |
E717G |
probably damaging |
Het |
| Cdh17 |
T |
A |
4: 11,771,329 (GRCm39) |
I37N |
probably damaging |
Het |
| Cfap99 |
T |
G |
5: 34,458,741 (GRCm39) |
F45L |
probably benign |
Het |
| Chsy1 |
C |
A |
7: 65,822,148 (GRCm39) |
H794Q |
probably benign |
Het |
| Clec4a3 |
G |
A |
6: 122,931,045 (GRCm39) |
V45I |
probably benign |
Het |
| Clic3 |
G |
A |
2: 25,347,730 (GRCm39) |
V32I |
probably benign |
Het |
| Clip2 |
A |
T |
5: 134,531,584 (GRCm39) |
D740E |
probably benign |
Het |
| Col5a2 |
C |
T |
1: 45,426,004 (GRCm39) |
V1062I |
probably benign |
Het |
| Col5a2 |
A |
G |
1: 45,431,973 (GRCm39) |
|
probably null |
Het |
| Cyp2j11 |
C |
T |
4: 96,195,596 (GRCm39) |
V367I |
probably damaging |
Het |
| Ddr1 |
C |
T |
17: 35,993,650 (GRCm39) |
A821T |
possibly damaging |
Het |
| Dna2 |
G |
A |
10: 62,786,572 (GRCm39) |
E107K |
probably benign |
Het |
| Eif3d |
A |
G |
15: 77,843,894 (GRCm39) |
V484A |
probably benign |
Het |
| Fgfr4 |
A |
G |
13: 55,308,940 (GRCm39) |
T354A |
probably benign |
Het |
| Fkbp6 |
T |
C |
5: 135,378,486 (GRCm39) |
D54G |
probably benign |
Het |
| Gm47995 |
A |
G |
1: 151,074,226 (GRCm39) |
T10A |
possibly damaging |
Het |
| Gnb1l |
T |
A |
16: 18,359,745 (GRCm39) |
I50N |
probably damaging |
Het |
| Gphb5 |
A |
T |
12: 75,462,523 (GRCm39) |
V22D |
probably damaging |
Het |
| Gstt4 |
C |
T |
10: 75,650,959 (GRCm39) |
C221Y |
probably benign |
Het |
| Hmces |
T |
C |
6: 87,910,256 (GRCm39) |
V222A |
possibly damaging |
Het |
| Kat14 |
T |
A |
2: 144,215,702 (GRCm39) |
D62E |
probably benign |
Het |
| Kcnmb2 |
T |
A |
3: 32,236,018 (GRCm39) |
V89E |
probably benign |
Het |
| Kif23 |
T |
A |
9: 61,851,507 (GRCm39) |
N63I |
probably benign |
Het |
| Lamc2 |
T |
C |
1: 153,015,600 (GRCm39) |
M578V |
probably benign |
Het |
| Ltbp2 |
A |
T |
12: 84,835,927 (GRCm39) |
C1335S |
probably benign |
Het |
| Lyst |
A |
G |
13: 13,862,330 (GRCm39) |
E2622G |
possibly damaging |
Het |
| Mctp1 |
A |
T |
13: 76,532,793 (GRCm39) |
H47L |
probably benign |
Het |
| Mical2 |
A |
G |
7: 112,010,665 (GRCm39) |
K618R |
probably damaging |
Het |
| Mllt6 |
T |
C |
11: 97,556,586 (GRCm39) |
I92T |
probably benign |
Het |
| Morc2a |
A |
G |
11: 3,626,184 (GRCm39) |
I223V |
probably benign |
Het |
| Msh3 |
A |
T |
13: 92,481,594 (GRCm39) |
I306N |
probably benign |
Het |
| Myo3b |
T |
A |
2: 69,925,553 (GRCm39) |
S35T |
probably benign |
Het |
| Nfkbiz |
A |
T |
16: 55,634,347 (GRCm39) |
V700E |
probably damaging |
Het |
| Oit3 |
T |
A |
10: 59,277,505 (GRCm39) |
M1L |
unknown |
Het |
| Or4c1 |
A |
T |
2: 89,133,075 (GRCm39) |
I287N |
probably damaging |
Het |
| Or51l14 |
T |
A |
7: 103,100,618 (GRCm39) |
F25I |
probably benign |
Het |
| Or8k17 |
A |
T |
2: 86,066,816 (GRCm39) |
I114K |
probably damaging |
Het |
| Peg3 |
T |
G |
7: 6,710,998 (GRCm39) |
D1408A |
probably damaging |
Het |
| Plaa |
A |
C |
4: 94,475,120 (GRCm39) |
S201R |
possibly damaging |
Het |
| Potefam1 |
A |
T |
2: 111,000,631 (GRCm39) |
M196K |
unknown |
Het |
| Psmd5 |
A |
G |
2: 34,744,338 (GRCm39) |
S395P |
probably benign |
Het |
| Ralgapa2 |
T |
C |
2: 146,176,474 (GRCm39) |
I1701V |
probably damaging |
Het |
| Rmc1 |
A |
G |
18: 12,312,303 (GRCm39) |
H181R |
probably benign |
Het |
| Rnf32 |
G |
A |
5: 29,411,184 (GRCm39) |
A157T |
probably damaging |
Het |
| Rrad |
T |
A |
8: 105,356,359 (GRCm39) |
|
probably null |
Het |
| Samm50 |
T |
A |
15: 84,092,042 (GRCm39) |
L339Q |
probably damaging |
Het |
| Scin |
T |
C |
12: 40,154,957 (GRCm39) |
E212G |
possibly damaging |
Het |
| Scrib |
T |
C |
15: 75,939,148 (GRCm39) |
D146G |
probably damaging |
Het |
| Slc19a1 |
G |
A |
10: 76,885,605 (GRCm39) |
D502N |
probably benign |
Het |
| Slc4a4 |
T |
C |
5: 89,362,432 (GRCm39) |
S839P |
probably damaging |
Het |
| Slc4a8 |
A |
G |
15: 100,704,141 (GRCm39) |
D764G |
probably damaging |
Het |
| Slc6a19 |
G |
A |
13: 73,829,884 (GRCm39) |
A590V |
probably damaging |
Het |
| Slfn8 |
G |
T |
11: 82,908,532 (GRCm39) |
H4N |
probably benign |
Het |
| Smad9 |
T |
A |
3: 54,696,756 (GRCm39) |
F274I |
possibly damaging |
Het |
| Snx4 |
A |
G |
16: 33,106,380 (GRCm39) |
E271G |
probably benign |
Het |
| Spata31h1 |
A |
G |
10: 82,122,573 (GRCm39) |
V3479A |
probably benign |
Het |
| Tektip1 |
C |
A |
10: 81,201,611 (GRCm39) |
V4L |
probably benign |
Het |
| Thap4 |
G |
A |
1: 93,678,028 (GRCm39) |
R253* |
probably null |
Het |
| Tmem65 |
T |
A |
15: 58,662,028 (GRCm39) |
I144F |
|
Het |
| Tnrc6a |
G |
A |
7: 122,778,958 (GRCm39) |
R1223Q |
probably benign |
Het |
| Traf7 |
CA |
CAA |
17: 24,746,737 (GRCm39) |
|
probably benign |
Het |
| Trpm2 |
T |
C |
10: 77,747,226 (GRCm39) |
Y1424C |
possibly damaging |
Het |
| Trrap |
T |
A |
5: 144,763,478 (GRCm39) |
Y2457N |
probably damaging |
Het |
| Vmn1r7 |
A |
G |
6: 57,001,508 (GRCm39) |
S251P |
probably damaging |
Het |
| Vmn2r89 |
A |
T |
14: 51,693,469 (GRCm39) |
E273V |
probably damaging |
Het |
| Vps52 |
A |
G |
17: 34,181,156 (GRCm39) |
D466G |
probably damaging |
Het |
| Xirp2 |
T |
C |
2: 67,345,976 (GRCm39) |
V2739A |
probably benign |
Het |
| Zc3h4 |
C |
T |
7: 16,168,675 (GRCm39) |
S1003F |
unknown |
Het |
| Zyg11a |
A |
T |
4: 108,075,102 (GRCm39) |
H6Q |
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 |
|
R7237:Gm4787
|
UTSW |
12 |
81,424,442 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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'- TCCTTCCAGGTAGCTGTAGAAG -3'
(R):5'- TTGTCTGTCACCCAGTGGAC -3'
Sequencing Primer
(F):5'- GAACAAATGGGTAATCCTTCTGCTGG -3'
(R):5'- TGTCACCCAGTGGACCAGATTTG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation