Incidental Mutation 'IGL01571:Gm5431'
ID |
93309 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gm5431
|
Ensembl Gene |
ENSMUSG00000058163 |
Gene Name |
predicted gene 5431 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
IGL01571
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
48778249-48792979 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 48785540 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 278
(D278E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104835
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109209]
[ENSMUST00000109210]
[ENSMUST00000109212]
|
AlphaFold |
Q5NCB3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000109209
|
SMART Domains |
Protein: ENSMUSP00000104832 Gene: ENSMUSG00000058163
Domain | Start | End | E-Value | Type |
Pfam:IIGP
|
1 |
120 |
1.6e-22 |
PFAM |
low complexity region
|
153 |
166 |
N/A |
INTRINSIC |
Pfam:IIGP
|
169 |
542 |
9.4e-154 |
PFAM |
Pfam:MMR_HSR1
|
205 |
359 |
1.5e-7 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109210
|
SMART Domains |
Protein: ENSMUSP00000104833 Gene: ENSMUSG00000058163
Domain | Start | End | E-Value | Type |
Pfam:IIGP
|
1 |
120 |
1.6e-22 |
PFAM |
low complexity region
|
153 |
166 |
N/A |
INTRINSIC |
Pfam:IIGP
|
169 |
542 |
9.4e-154 |
PFAM |
Pfam:MMR_HSR1
|
205 |
359 |
1.5e-7 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109212
AA Change: D278E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000104835 Gene: ENSMUSG00000058163 AA Change: D278E
Domain | Start | End | E-Value | Type |
Pfam:IIGP
|
36 |
398 |
2.5e-125 |
PFAM |
Pfam:DLIC
|
54 |
107 |
3.4e-5 |
PFAM |
Pfam:MMR_HSR1
|
72 |
235 |
1.7e-11 |
PFAM |
low complexity region
|
431 |
444 |
N/A |
INTRINSIC |
Pfam:IIGP
|
447 |
820 |
6.3e-153 |
PFAM |
Pfam:MMR_HSR1
|
483 |
606 |
2.4e-7 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AB124611 |
T |
A |
9: 21,450,377 (GRCm39) |
|
probably benign |
Het |
Cep164 |
T |
C |
9: 45,705,636 (GRCm39) |
Q127R |
possibly damaging |
Het |
Ces1f |
T |
A |
8: 93,984,996 (GRCm39) |
M444L |
probably benign |
Het |
Chd5 |
T |
A |
4: 152,468,572 (GRCm39) |
|
probably benign |
Het |
Cpd |
T |
A |
11: 76,673,122 (GRCm39) |
Y1341F |
probably damaging |
Het |
Cryz |
T |
C |
3: 154,327,380 (GRCm39) |
I268T |
probably damaging |
Het |
Csnk2a1 |
G |
A |
2: 152,117,326 (GRCm39) |
R278H |
probably damaging |
Het |
Cyp4a12b |
A |
G |
4: 115,295,354 (GRCm39) |
I487V |
probably benign |
Het |
Dnajb5 |
T |
C |
4: 42,956,516 (GRCm39) |
|
probably benign |
Het |
Dxo |
A |
T |
17: 35,058,016 (GRCm39) |
H214L |
probably damaging |
Het |
Etfb |
T |
C |
7: 43,102,383 (GRCm39) |
|
probably null |
Het |
G6pc2 |
G |
A |
2: 69,053,311 (GRCm39) |
V122I |
probably damaging |
Het |
Gstt2 |
C |
T |
10: 75,670,005 (GRCm39) |
|
probably benign |
Het |
Hnf4g |
A |
C |
3: 3,716,326 (GRCm39) |
|
probably benign |
Het |
Ifi44 |
T |
C |
3: 151,451,174 (GRCm39) |
D259G |
probably damaging |
Het |
Klk1 |
T |
C |
7: 43,878,020 (GRCm39) |
V92A |
probably damaging |
Het |
Lypla1 |
T |
C |
1: 4,915,211 (GRCm39) |
I222T |
probably benign |
Het |
Nbeal2 |
T |
C |
9: 110,461,826 (GRCm39) |
N1510D |
possibly damaging |
Het |
Ndufaf7 |
A |
G |
17: 79,251,281 (GRCm39) |
R229G |
probably damaging |
Het |
Nphp4 |
G |
A |
4: 152,640,839 (GRCm39) |
V1069M |
probably benign |
Het |
Nsd2 |
A |
G |
5: 34,022,031 (GRCm39) |
H528R |
probably benign |
Het |
Or10p21 |
A |
T |
10: 128,847,696 (GRCm39) |
I181F |
probably damaging |
Het |
Or4k48 |
C |
A |
2: 111,475,725 (GRCm39) |
V206L |
probably benign |
Het |
Or7a39 |
A |
G |
10: 78,715,671 (GRCm39) |
I222V |
possibly damaging |
Het |
Pigh |
A |
C |
12: 79,132,634 (GRCm39) |
|
probably benign |
Het |
Prr14l |
A |
T |
5: 32,986,150 (GRCm39) |
M1115K |
probably benign |
Het |
Psg21 |
T |
C |
7: 18,388,750 (GRCm39) |
D114G |
probably damaging |
Het |
Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
Pygb |
T |
C |
2: 150,672,393 (GRCm39) |
S831P |
probably benign |
Het |
Ryr2 |
T |
A |
13: 11,736,647 (GRCm39) |
D2260V |
probably damaging |
Het |
Sgo2a |
T |
C |
1: 58,057,133 (GRCm39) |
S1106P |
probably damaging |
Het |
Slc5a5 |
G |
A |
8: 71,343,976 (GRCm39) |
|
probably benign |
Het |
Tekt4 |
A |
G |
17: 25,695,358 (GRCm39) |
D397G |
probably benign |
Het |
Trrap |
T |
A |
5: 144,770,097 (GRCm39) |
|
probably benign |
Het |
Upf2 |
T |
C |
2: 6,023,750 (GRCm39) |
|
probably benign |
Het |
Usp17lb |
A |
T |
7: 104,489,588 (GRCm39) |
N445K |
possibly damaging |
Het |
Vmn2r111 |
A |
G |
17: 22,790,373 (GRCm39) |
V211A |
probably damaging |
Het |
Vmn2r23 |
A |
G |
6: 123,681,366 (GRCm39) |
I91M |
probably damaging |
Het |
Vps13b |
C |
T |
15: 35,877,635 (GRCm39) |
|
probably benign |
Het |
Zc3hc1 |
G |
A |
6: 30,390,862 (GRCm39) |
T47I |
probably benign |
Het |
|
Other mutations in Gm5431 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00479:Gm5431
|
APN |
11 |
48,786,241 (GRCm39) |
missense |
probably benign |
0.09 |
IGL00964:Gm5431
|
APN |
11 |
48,780,094 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02006:Gm5431
|
APN |
11 |
48,779,330 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02084:Gm5431
|
APN |
11 |
48,779,912 (GRCm39) |
missense |
probably benign |
0.41 |
IGL02255:Gm5431
|
APN |
11 |
48,779,785 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02291:Gm5431
|
APN |
11 |
48,779,791 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03194:Gm5431
|
APN |
11 |
48,786,364 (GRCm39) |
intron |
probably benign |
|
IGL03251:Gm5431
|
APN |
11 |
48,785,548 (GRCm39) |
missense |
probably benign |
0.00 |
R1168:Gm5431
|
UTSW |
11 |
48,786,191 (GRCm39) |
missense |
probably benign |
0.36 |
R1387:Gm5431
|
UTSW |
11 |
48,785,842 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1396:Gm5431
|
UTSW |
11 |
48,786,261 (GRCm39) |
intron |
probably benign |
|
R1711:Gm5431
|
UTSW |
11 |
48,785,853 (GRCm39) |
missense |
possibly damaging |
0.73 |
R1750:Gm5431
|
UTSW |
11 |
48,785,658 (GRCm39) |
missense |
probably benign |
0.01 |
R1927:Gm5431
|
UTSW |
11 |
48,780,082 (GRCm39) |
missense |
probably damaging |
1.00 |
R1957:Gm5431
|
UTSW |
11 |
48,779,224 (GRCm39) |
nonsense |
probably null |
|
R2196:Gm5431
|
UTSW |
11 |
48,780,058 (GRCm39) |
missense |
probably damaging |
1.00 |
R2509:Gm5431
|
UTSW |
11 |
48,779,536 (GRCm39) |
missense |
probably benign |
0.16 |
R2511:Gm5431
|
UTSW |
11 |
48,779,536 (GRCm39) |
missense |
probably benign |
0.16 |
R4018:Gm5431
|
UTSW |
11 |
48,779,995 (GRCm39) |
missense |
probably damaging |
1.00 |
R4859:Gm5431
|
UTSW |
11 |
48,780,409 (GRCm39) |
missense |
probably damaging |
1.00 |
R4895:Gm5431
|
UTSW |
11 |
48,779,855 (GRCm39) |
missense |
probably damaging |
0.98 |
R5124:Gm5431
|
UTSW |
11 |
48,779,866 (GRCm39) |
missense |
probably benign |
0.31 |
R5311:Gm5431
|
UTSW |
11 |
48,779,716 (GRCm39) |
missense |
probably damaging |
1.00 |
R5600:Gm5431
|
UTSW |
11 |
48,785,583 (GRCm39) |
missense |
possibly damaging |
0.56 |
R5728:Gm5431
|
UTSW |
11 |
48,779,440 (GRCm39) |
missense |
probably damaging |
1.00 |
R5731:Gm5431
|
UTSW |
11 |
48,785,275 (GRCm39) |
missense |
probably damaging |
0.96 |
R6120:Gm5431
|
UTSW |
11 |
48,785,608 (GRCm39) |
missense |
probably benign |
0.36 |
R6129:Gm5431
|
UTSW |
11 |
48,780,418 (GRCm39) |
missense |
probably damaging |
1.00 |
R6169:Gm5431
|
UTSW |
11 |
48,779,402 (GRCm39) |
missense |
probably benign |
0.29 |
R6192:Gm5431
|
UTSW |
11 |
48,785,220 (GRCm39) |
missense |
probably benign |
0.01 |
R6253:Gm5431
|
UTSW |
11 |
48,785,826 (GRCm39) |
missense |
probably benign |
0.00 |
R6326:Gm5431
|
UTSW |
11 |
48,780,172 (GRCm39) |
missense |
probably damaging |
1.00 |
R6401:Gm5431
|
UTSW |
11 |
48,779,536 (GRCm39) |
missense |
probably benign |
0.16 |
R6654:Gm5431
|
UTSW |
11 |
48,785,427 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6810:Gm5431
|
UTSW |
11 |
48,779,803 (GRCm39) |
missense |
probably damaging |
1.00 |
R6965:Gm5431
|
UTSW |
11 |
48,786,027 (GRCm39) |
missense |
probably benign |
0.19 |
R6970:Gm5431
|
UTSW |
11 |
48,779,317 (GRCm39) |
missense |
probably damaging |
1.00 |
R7269:Gm5431
|
UTSW |
11 |
48,779,237 (GRCm39) |
missense |
probably benign |
|
R7770:Gm5431
|
UTSW |
11 |
48,779,285 (GRCm39) |
missense |
probably benign |
0.02 |
R8260:Gm5431
|
UTSW |
11 |
48,785,556 (GRCm39) |
missense |
probably benign |
0.01 |
R8385:Gm5431
|
UTSW |
11 |
48,780,347 (GRCm39) |
missense |
probably damaging |
1.00 |
R9058:Gm5431
|
UTSW |
11 |
48,786,049 (GRCm39) |
missense |
probably benign |
0.09 |
R9127:Gm5431
|
UTSW |
11 |
48,779,600 (GRCm39) |
nonsense |
probably null |
|
R9138:Gm5431
|
UTSW |
11 |
48,780,498 (GRCm39) |
missense |
probably benign |
0.05 |
R9355:Gm5431
|
UTSW |
11 |
48,785,275 (GRCm39) |
missense |
probably damaging |
0.96 |
R9655:Gm5431
|
UTSW |
11 |
48,785,799 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2013-12-09 |