Incidental Mutation 'R6932:Gm4787'
ID |
540116 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm4787
|
Ensembl Gene |
ENSMUSG00000072974 |
Gene Name |
predicted gene 4787 |
Synonyms |
|
MMRRC Submission |
045047-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R6932 (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 T
at 81425974 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 61
(D61E)
|
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: D61E
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000077390 Gene: ENSMUSG00000072974 AA Change: D61E
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: 99.2%
- 20x: 97.2%
|
Validation Efficiency |
98% (80/82) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acads |
A |
T |
5: 115,250,331 (GRCm39) |
F198I |
probably damaging |
Het |
Acy1 |
A |
G |
9: 106,314,826 (GRCm39) |
|
probably null |
Het |
Adk |
A |
G |
14: 21,126,376 (GRCm39) |
M1V |
probably null |
Het |
Ahi1 |
A |
G |
10: 20,839,590 (GRCm39) |
D167G |
probably benign |
Het |
Ankrd16 |
T |
C |
2: 11,791,054 (GRCm39) |
V290A |
possibly damaging |
Het |
Arhgef5 |
T |
A |
6: 43,251,351 (GRCm39) |
S701T |
possibly damaging |
Het |
Atp13a5 |
C |
A |
16: 29,100,769 (GRCm39) |
M673I |
probably damaging |
Het |
BC005624 |
T |
C |
2: 30,868,940 (GRCm39) |
D78G |
possibly damaging |
Het |
Bcat2 |
C |
T |
7: 45,238,745 (GRCm39) |
H347Y |
probably damaging |
Het |
Bpifb4 |
A |
G |
2: 153,784,547 (GRCm39) |
Y85C |
possibly damaging |
Het |
Cdc42 |
T |
A |
4: 137,049,932 (GRCm39) |
|
probably null |
Het |
Cep170 |
G |
A |
1: 176,589,003 (GRCm39) |
L541F |
possibly damaging |
Het |
Cfap97d2 |
CA |
CAA |
8: 13,784,865 (GRCm39) |
|
probably null |
Het |
Cgrrf1 |
T |
A |
14: 47,091,179 (GRCm39) |
N234K |
probably benign |
Het |
Ctrc |
C |
T |
4: 141,568,879 (GRCm39) |
C108Y |
probably damaging |
Het |
Cyp2u1 |
C |
T |
3: 131,091,945 (GRCm39) |
V192M |
possibly damaging |
Het |
Dhx38 |
A |
T |
8: 110,279,307 (GRCm39) |
L1013Q |
probably damaging |
Het |
Dnah1 |
T |
A |
14: 31,009,733 (GRCm39) |
N1945I |
probably damaging |
Het |
Dnah10 |
C |
G |
5: 124,898,514 (GRCm39) |
N3765K |
possibly damaging |
Het |
Dnah17 |
C |
A |
11: 117,950,905 (GRCm39) |
R2906L |
possibly damaging |
Het |
Dnajc10 |
C |
T |
2: 80,161,680 (GRCm39) |
T306I |
probably benign |
Het |
Efemp2 |
T |
A |
19: 5,530,273 (GRCm39) |
C287S |
probably damaging |
Het |
Efna1 |
T |
C |
3: 89,180,091 (GRCm39) |
R143G |
probably benign |
Het |
Emilin1 |
A |
C |
5: 31,074,421 (GRCm39) |
N221H |
probably damaging |
Het |
Epg5 |
A |
G |
18: 77,991,824 (GRCm39) |
T174A |
probably benign |
Het |
Fam184b |
T |
A |
5: 45,690,243 (GRCm39) |
|
probably null |
Het |
Fchsd2 |
T |
A |
7: 100,926,621 (GRCm39) |
C570* |
probably null |
Het |
Gm7356 |
C |
T |
17: 14,221,925 (GRCm39) |
G35R |
probably damaging |
Het |
Gm8220 |
A |
G |
14: 44,525,645 (GRCm39) |
T20A |
probably damaging |
Het |
Hivep2 |
C |
T |
10: 14,004,245 (GRCm39) |
T281M |
probably damaging |
Het |
Ighv2-9-1 |
A |
G |
12: 113,733,692 (GRCm39) |
V43A |
probably damaging |
Het |
Klhl33 |
A |
T |
14: 51,129,373 (GRCm39) |
C619S |
probably benign |
Het |
Kmt2a |
A |
T |
9: 44,740,558 (GRCm39) |
|
probably benign |
Het |
Lax1 |
A |
G |
1: 133,607,896 (GRCm39) |
C282R |
probably benign |
Het |
Lrrd1 |
A |
G |
5: 3,901,395 (GRCm39) |
K567E |
probably benign |
Het |
Luzp1 |
C |
T |
4: 136,268,124 (GRCm39) |
R116* |
probably null |
Het |
Lypd3 |
G |
C |
7: 24,337,858 (GRCm39) |
G75R |
probably damaging |
Het |
Macrod2 |
A |
T |
2: 140,261,833 (GRCm39) |
N38I |
probably damaging |
Het |
Map3k14 |
A |
T |
11: 103,132,958 (GRCm39) |
I80N |
probably damaging |
Het |
Mcm9 |
A |
G |
10: 53,496,299 (GRCm39) |
S368P |
probably benign |
Het |
Mfge8 |
T |
C |
7: 78,793,049 (GRCm39) |
D139G |
probably benign |
Het |
Mmp19 |
A |
T |
10: 128,627,523 (GRCm39) |
I54F |
probably benign |
Het |
Myo15a |
G |
T |
11: 60,390,320 (GRCm39) |
W2114L |
probably damaging |
Het |
Myo1a |
G |
T |
10: 127,546,327 (GRCm39) |
V277L |
probably benign |
Het |
Myoc |
A |
G |
1: 162,466,915 (GRCm39) |
D28G |
probably damaging |
Het |
Myrf |
G |
T |
19: 10,196,924 (GRCm39) |
N487K |
probably damaging |
Het |
Omd |
T |
A |
13: 49,743,710 (GRCm39) |
F253L |
probably damaging |
Het |
Or2ag19 |
G |
T |
7: 106,444,009 (GRCm39) |
G64* |
probably null |
Het |
Or5t5 |
C |
G |
2: 86,616,499 (GRCm39) |
L142V |
probably damaging |
Het |
Or6n1 |
G |
A |
1: 173,917,316 (GRCm39) |
A237T |
probably damaging |
Het |
Papss1 |
T |
G |
3: 131,305,732 (GRCm39) |
I238S |
probably damaging |
Het |
Pkhd1 |
A |
T |
1: 20,632,675 (GRCm39) |
F580Y |
probably benign |
Het |
Polk |
T |
A |
13: 96,653,189 (GRCm39) |
K70N |
probably damaging |
Het |
Ppig |
T |
A |
2: 69,562,755 (GRCm39) |
D31E |
probably benign |
Het |
Ppp6r1 |
G |
T |
7: 4,636,291 (GRCm39) |
S766R |
possibly damaging |
Het |
Rab11fip5 |
T |
C |
6: 85,318,540 (GRCm39) |
D783G |
probably benign |
Het |
Reln |
T |
C |
5: 22,190,855 (GRCm39) |
I1511V |
probably benign |
Het |
Rnh1 |
T |
C |
7: 140,743,096 (GRCm39) |
N268S |
probably damaging |
Het |
Rpia |
A |
G |
6: 70,750,424 (GRCm39) |
V236A |
probably benign |
Het |
Rpl10a |
G |
T |
17: 28,548,424 (GRCm39) |
V80L |
probably benign |
Het |
Sap130 |
T |
G |
18: 31,799,407 (GRCm39) |
S295A |
possibly damaging |
Het |
Sgms1 |
C |
T |
19: 32,120,193 (GRCm39) |
V238I |
probably benign |
Het |
Sh3tc1 |
A |
G |
5: 35,864,778 (GRCm39) |
S470P |
probably benign |
Het |
Slc25a32 |
A |
G |
15: 38,960,984 (GRCm39) |
V233A |
possibly damaging |
Het |
Slc2a2 |
T |
C |
3: 28,771,668 (GRCm39) |
S158P |
probably benign |
Het |
Slc6a2 |
A |
G |
8: 93,722,653 (GRCm39) |
Y550C |
probably benign |
Het |
Slc7a9 |
C |
A |
7: 35,151,936 (GRCm39) |
T77K |
probably benign |
Het |
Snd1 |
A |
T |
6: 28,626,100 (GRCm39) |
D385V |
probably benign |
Het |
Ssh3 |
A |
T |
19: 4,314,448 (GRCm39) |
F369I |
probably damaging |
Het |
Syk |
A |
G |
13: 52,766,495 (GRCm39) |
|
probably null |
Het |
Tbc1d16 |
A |
G |
11: 119,099,742 (GRCm39) |
S211P |
probably damaging |
Het |
Ttc3 |
A |
G |
16: 94,244,312 (GRCm39) |
T1439A |
probably benign |
Het |
Usp18 |
A |
G |
6: 121,229,473 (GRCm39) |
M31V |
probably benign |
Het |
Vav1 |
G |
T |
17: 57,609,330 (GRCm39) |
E415D |
possibly damaging |
Het |
Vps13a |
A |
T |
19: 16,655,439 (GRCm39) |
V1863D |
probably benign |
Het |
Xdh |
T |
A |
17: 74,229,557 (GRCm39) |
I299F |
probably damaging |
Het |
Zc3h14 |
A |
G |
12: 98,737,336 (GRCm39) |
|
probably benign |
Het |
Zfp345 |
G |
A |
2: 150,315,331 (GRCm39) |
H69Y |
probably damaging |
Het |
Zfp652 |
G |
T |
11: 95,654,667 (GRCm39) |
V357L |
probably benign |
Het |
Zfp712 |
A |
T |
13: 67,188,891 (GRCm39) |
Y545* |
probably null |
Het |
Zgrf1 |
T |
C |
3: 127,353,281 (GRCm39) |
|
probably null |
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 |
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 |
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'- ATCATGCCTTTCAGACCTCCAG -3'
(R):5'- GACCACCTACCTGGACTTTG -3'
Sequencing Primer
(F):5'- ACTCCTTCCAGGTAGCTGTAGAAG -3'
(R):5'- ACTTTGGCCCTCCTGAGAG -3'
|
Posted On |
2018-11-06 |