Incidental Mutation 'R5257:Gm4787'
ID |
399814 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm4787
|
Ensembl Gene |
ENSMUSG00000072974 |
Gene Name |
predicted gene 4787 |
Synonyms |
|
MMRRC Submission |
042855-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R5257 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
81423765-81426238 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 81424604 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 518
(T518S)
|
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: T518S
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000077390 Gene: ENSMUSG00000072974 AA Change: T518S
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 |
noncoding transcript
Transcript: ENSMUST00000087222
|
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.5%
|
Validation Efficiency |
97% (63/65) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
T |
11: 9,199,684 (GRCm39) |
T128S |
possibly damaging |
Het |
Abca16 |
T |
G |
7: 120,035,992 (GRCm39) |
|
probably null |
Het |
Acp3 |
T |
C |
9: 104,186,674 (GRCm39) |
I266V |
probably benign |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Asf1b |
C |
T |
8: 84,695,896 (GRCm39) |
T179I |
probably benign |
Het |
Astn1 |
A |
G |
1: 158,440,102 (GRCm39) |
K890R |
probably damaging |
Het |
Card11 |
G |
A |
5: 140,862,180 (GRCm39) |
P1039L |
possibly damaging |
Het |
Cep43 |
T |
C |
17: 8,391,775 (GRCm39) |
S152P |
probably benign |
Het |
Chsy3 |
A |
G |
18: 59,542,866 (GRCm39) |
E668G |
possibly damaging |
Het |
Cnot8 |
T |
A |
11: 58,008,348 (GRCm39) |
N271K |
possibly damaging |
Het |
Dcaf5 |
G |
T |
12: 80,444,493 (GRCm39) |
P200H |
probably damaging |
Het |
Dkk4 |
C |
A |
8: 23,117,031 (GRCm39) |
L215I |
probably damaging |
Het |
Dnhd1 |
C |
T |
7: 105,323,244 (GRCm39) |
T584I |
probably benign |
Het |
Dock3 |
T |
C |
9: 106,874,124 (GRCm39) |
Y449C |
probably damaging |
Het |
Dsg1a |
A |
G |
18: 20,453,988 (GRCm39) |
D31G |
probably damaging |
Het |
Foxi2 |
C |
T |
7: 135,012,256 (GRCm39) |
T48M |
probably benign |
Het |
Gdf3 |
T |
C |
6: 122,583,345 (GRCm39) |
M341V |
probably damaging |
Het |
Gm21738 |
A |
G |
14: 19,415,942 (GRCm38) |
L199S |
probably benign |
Het |
Igkv4-80 |
T |
A |
6: 68,993,811 (GRCm39) |
T27S |
probably benign |
Het |
Ipo9 |
A |
T |
1: 135,313,173 (GRCm39) |
C1019S |
probably damaging |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Ktn1 |
T |
A |
14: 47,904,820 (GRCm39) |
H199Q |
probably benign |
Het |
Kyat3 |
A |
G |
3: 142,440,337 (GRCm39) |
M354V |
probably benign |
Het |
Lbhd1 |
A |
G |
19: 8,861,453 (GRCm39) |
|
probably benign |
Het |
Llgl1 |
G |
C |
11: 60,602,389 (GRCm39) |
|
probably null |
Het |
Lyzl6 |
T |
A |
11: 103,525,899 (GRCm39) |
I74F |
probably damaging |
Het |
Mfsd4b2 |
T |
A |
10: 39,798,017 (GRCm39) |
M113L |
probably benign |
Het |
Mslnl |
T |
C |
17: 25,965,139 (GRCm39) |
Y502H |
probably benign |
Het |
Nckap5 |
A |
G |
1: 125,952,245 (GRCm39) |
S1372P |
probably damaging |
Het |
Nle1 |
T |
C |
11: 82,795,772 (GRCm39) |
D225G |
probably damaging |
Het |
Or5au1 |
T |
C |
14: 52,273,341 (GRCm39) |
T76A |
possibly damaging |
Het |
P2rx7 |
A |
G |
5: 122,819,066 (GRCm39) |
E496G |
probably damaging |
Het |
Padi4 |
C |
T |
4: 140,473,515 (GRCm39) |
V641M |
probably benign |
Het |
Phf11d |
T |
C |
14: 59,590,160 (GRCm39) |
I221V |
possibly damaging |
Het |
Pla2g2c |
G |
A |
4: 138,458,856 (GRCm39) |
|
probably benign |
Het |
Prdm16 |
A |
T |
4: 154,451,671 (GRCm39) |
D179E |
possibly damaging |
Het |
Psca |
A |
T |
15: 74,588,240 (GRCm39) |
I56F |
probably damaging |
Het |
Ptrhd1 |
A |
G |
12: 4,286,481 (GRCm39) |
Y124C |
probably damaging |
Het |
Sardh |
T |
C |
2: 27,134,271 (GRCm39) |
T82A |
probably damaging |
Het |
Sesn1 |
C |
T |
10: 41,770,984 (GRCm39) |
P172S |
probably benign |
Het |
Setd4 |
T |
C |
16: 93,393,221 (GRCm39) |
T57A |
probably damaging |
Het |
Skint5 |
T |
C |
4: 113,434,859 (GRCm39) |
T1037A |
unknown |
Het |
Slc18a3 |
T |
C |
14: 32,185,777 (GRCm39) |
D202G |
probably damaging |
Het |
Slc44a5 |
G |
A |
3: 153,948,760 (GRCm39) |
C176Y |
probably damaging |
Het |
Slc6a5 |
G |
A |
7: 49,579,740 (GRCm39) |
V373M |
probably damaging |
Het |
Sorbs3 |
T |
C |
14: 70,422,483 (GRCm39) |
I523V |
probably benign |
Het |
Sspo |
T |
C |
6: 48,453,428 (GRCm39) |
V2872A |
probably damaging |
Het |
Stard9 |
T |
A |
2: 120,529,824 (GRCm39) |
L2027H |
probably damaging |
Het |
Tex2 |
T |
A |
11: 106,458,585 (GRCm39) |
|
probably benign |
Het |
Tfdp1 |
C |
T |
8: 13,419,529 (GRCm39) |
T86M |
possibly damaging |
Het |
Ttc6 |
A |
T |
12: 57,749,061 (GRCm39) |
D1331V |
possibly damaging |
Het |
Vps13b |
A |
G |
15: 35,794,567 (GRCm39) |
T2326A |
possibly damaging |
Het |
Wnk1 |
A |
G |
6: 120,014,149 (GRCm39) |
S149P |
probably benign |
Het |
Zfp521 |
G |
A |
18: 13,980,035 (GRCm39) |
S126F |
probably damaging |
Het |
Zfp958 |
A |
T |
8: 4,678,456 (GRCm39) |
E160D |
probably benign |
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 |
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 |
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'- GCTTGACACCATCACAGTGG -3'
(R):5'- ACTCAGGGCAGCTCTTGTAATAAAG -3'
Sequencing Primer
(F):5'- CCATCACAGTGGAGCATTCC -3'
(R):5'- CAGCTCTTGTAATAAAGGAGGTTGC -3'
|
Posted On |
2016-07-06 |