Incidental Mutation 'R7120:Gm4787'
ID |
551953 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm4787
|
Ensembl Gene |
ENSMUSG00000072974 |
Gene Name |
predicted gene 4787 |
Synonyms |
|
MMRRC Submission |
045209-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R7120 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
81423765-81426238 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 81425260 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Isoleucine
at position 299
(M299I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000077390
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062182]
[ENSMUST00000110340]
[ENSMUST00000164386]
[ENSMUST00000166723]
|
AlphaFold |
B2RUD9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000062182
AA Change: M299I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000077390 Gene: ENSMUSG00000072974 AA Change: M299I
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: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810062G17Rik |
A |
T |
3: 36,536,016 (GRCm39) |
Q94L |
unknown |
Het |
4933411K16Rik |
C |
T |
19: 42,041,112 (GRCm39) |
A81V |
probably benign |
Het |
Actr3 |
A |
C |
1: 125,331,169 (GRCm39) |
Y273* |
probably null |
Het |
Aoc1 |
T |
A |
6: 48,883,531 (GRCm39) |
I469N |
probably damaging |
Het |
Arhgef28 |
A |
T |
13: 98,081,047 (GRCm39) |
L1270Q |
probably damaging |
Het |
Atp2c1 |
G |
A |
9: 105,297,385 (GRCm39) |
Q780* |
probably null |
Het |
Bbs10 |
T |
C |
10: 111,135,310 (GRCm39) |
V141A |
possibly damaging |
Het |
Bivm |
A |
T |
1: 44,165,606 (GRCm39) |
T19S |
probably benign |
Het |
Cacna1h |
T |
G |
17: 25,610,481 (GRCm39) |
H675P |
probably benign |
Het |
Cadps |
T |
A |
14: 12,439,919 (GRCm38) |
L1204F |
probably damaging |
Het |
Cald1 |
T |
C |
6: 34,663,011 (GRCm39) |
|
probably null |
Het |
Calr |
A |
G |
8: 85,569,457 (GRCm39) |
M357T |
probably damaging |
Het |
Ccni |
A |
T |
5: 93,331,190 (GRCm39) |
Y260* |
probably null |
Het |
Csrnp3 |
C |
A |
2: 65,853,354 (GRCm39) |
T594K |
probably damaging |
Het |
Dek |
A |
T |
13: 47,253,659 (GRCm39) |
M152K |
unknown |
Het |
Depdc1b |
T |
C |
13: 108,498,781 (GRCm39) |
W155R |
probably benign |
Het |
Ehd1 |
A |
G |
19: 6,347,591 (GRCm39) |
K315R |
probably benign |
Het |
Epn3 |
C |
A |
11: 94,383,254 (GRCm39) |
R323S |
probably benign |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Fbxo10 |
T |
A |
4: 45,040,533 (GRCm39) |
K891* |
probably null |
Het |
Fras1 |
G |
T |
5: 96,900,819 (GRCm39) |
G3013* |
probably null |
Het |
Gbp2b |
A |
G |
3: 142,312,507 (GRCm39) |
T297A |
probably benign |
Het |
Gbp7 |
T |
C |
3: 142,249,734 (GRCm39) |
S402P |
probably damaging |
Het |
Gclc |
T |
C |
9: 77,694,032 (GRCm39) |
Y329H |
probably damaging |
Het |
Gfpt1 |
A |
G |
6: 87,064,375 (GRCm39) |
H655R |
probably benign |
Het |
Grb7 |
C |
A |
11: 98,345,817 (GRCm39) |
R532S |
probably benign |
Het |
Hmcn1 |
A |
T |
1: 150,576,292 (GRCm39) |
I2066N |
probably damaging |
Het |
Hnrnpll |
T |
C |
17: 80,341,486 (GRCm39) |
T518A |
probably benign |
Het |
Hps3 |
G |
A |
3: 20,065,705 (GRCm39) |
R712W |
probably damaging |
Het |
Hspd1 |
A |
G |
1: 55,118,388 (GRCm39) |
V406A |
probably benign |
Het |
Igkv2-112 |
T |
C |
6: 68,197,510 (GRCm39) |
F61L |
probably benign |
Het |
Iqcf5 |
G |
A |
9: 106,392,995 (GRCm39) |
R84H |
probably damaging |
Het |
Itgad |
T |
A |
7: 127,773,146 (GRCm39) |
M1K |
probably null |
Het |
Kmt2d |
A |
G |
15: 98,758,946 (GRCm39) |
S1292P |
unknown |
Het |
Macc1 |
C |
A |
12: 119,409,480 (GRCm39) |
Q83K |
possibly damaging |
Het |
Map3k4 |
G |
T |
17: 12,490,354 (GRCm39) |
A359E |
probably damaging |
Het |
Mfap3 |
T |
A |
11: 57,419,043 (GRCm39) |
C68S |
probably damaging |
Het |
Mipep |
C |
T |
14: 61,112,696 (GRCm39) |
R660C |
possibly damaging |
Het |
Morc2b |
A |
T |
17: 33,354,787 (GRCm39) |
L995Q |
probably damaging |
Het |
Mrc1 |
A |
G |
2: 14,313,508 (GRCm39) |
N913S |
probably damaging |
Het |
N4bp1 |
C |
A |
8: 87,587,495 (GRCm39) |
C481F |
probably benign |
Het |
Nae1 |
A |
G |
8: 105,252,910 (GRCm39) |
|
probably null |
Het |
Nup214 |
T |
A |
2: 31,941,054 (GRCm39) |
V29E |
probably benign |
Het |
Or1e30 |
A |
T |
11: 73,677,940 (GRCm39) |
M59L |
probably damaging |
Het |
Or8c11 |
T |
C |
9: 38,289,945 (GRCm39) |
L250P |
probably damaging |
Het |
Orai1 |
A |
G |
5: 123,167,535 (GRCm39) |
E236G |
possibly damaging |
Het |
P2rx7 |
A |
G |
5: 122,819,357 (GRCm39) |
Y593C |
probably benign |
Het |
Pcbp2 |
A |
G |
15: 102,383,113 (GRCm39) |
D77G |
possibly damaging |
Het |
Pcdha8 |
G |
A |
18: 37,126,840 (GRCm39) |
V441M |
possibly damaging |
Het |
Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
Plaa |
A |
G |
4: 94,470,919 (GRCm39) |
S406P |
possibly damaging |
Het |
Plekhh1 |
C |
A |
12: 79,117,713 (GRCm39) |
P903Q |
probably benign |
Het |
Plekhh3 |
T |
C |
11: 101,059,064 (GRCm39) |
E92G |
probably damaging |
Het |
Ptpn9 |
T |
C |
9: 56,967,166 (GRCm39) |
F463S |
probably damaging |
Het |
Ptprn2 |
A |
C |
12: 116,835,676 (GRCm39) |
E337A |
probably benign |
Het |
Rubcn |
C |
T |
16: 32,656,839 (GRCm39) |
R527Q |
probably damaging |
Het |
Samd3 |
C |
T |
10: 26,106,864 (GRCm39) |
T73M |
possibly damaging |
Het |
Sfxn4 |
T |
A |
19: 60,840,477 (GRCm39) |
K173* |
probably null |
Het |
Son |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
16: 91,453,579 (GRCm39) |
|
probably benign |
Het |
Son |
T |
G |
16: 91,467,414 (GRCm39) |
N2258K |
unknown |
Het |
Sspo |
A |
T |
6: 48,442,505 (GRCm39) |
H2000L |
probably benign |
Het |
Syne1 |
C |
T |
10: 5,243,971 (GRCm39) |
S2731N |
probably benign |
Het |
Syt6 |
T |
C |
3: 103,494,673 (GRCm39) |
Y213H |
probably damaging |
Het |
Tkt |
A |
G |
14: 30,281,779 (GRCm39) |
N99S |
probably benign |
Het |
Tlcd3b |
T |
C |
7: 126,428,505 (GRCm39) |
L221P |
probably damaging |
Het |
Tmem258 |
G |
A |
19: 10,181,602 (GRCm39) |
|
probably benign |
Het |
Tnks1bp1 |
T |
C |
2: 84,902,441 (GRCm39) |
S1702P |
probably damaging |
Het |
Tpte |
A |
G |
8: 22,817,689 (GRCm39) |
D225G |
probably damaging |
Het |
Trak1 |
T |
A |
9: 121,289,564 (GRCm39) |
F625L |
probably benign |
Het |
Ttc33 |
G |
T |
15: 5,241,488 (GRCm39) |
C77F |
probably benign |
Het |
Ugt1a2 |
A |
G |
1: 88,128,522 (GRCm39) |
H55R |
probably damaging |
Het |
Vmn1r169 |
G |
T |
7: 23,277,444 (GRCm39) |
V279L |
probably benign |
Het |
Vmn2r25 |
T |
C |
6: 123,805,394 (GRCm39) |
K488E |
possibly damaging |
Het |
Vmn2r8 |
A |
T |
5: 108,956,504 (GRCm39) |
D39E |
possibly 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 |
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 |
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'- TGTATCATGCCTCACATTCAGAAG -3'
(R):5'- TGGGAGCAATTCAACTGCCTC -3'
Sequencing Primer
(F):5'- TTCAGAAGGTGACCCACTGCATG -3'
(R):5'- GGAGCAATTCAACTGCCTCAATTG -3'
|
Posted On |
2019-05-15 |