Incidental Mutation 'IGL00479:Gm5431'
ID |
332187 |
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 # |
IGL00479
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
48778249-48792979 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 48786241 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 45
(S45T)
|
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: S45T
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000104835 Gene: ENSMUSG00000058163 AA Change: S45T
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agrn |
A |
C |
4: 156,255,029 (GRCm39) |
|
probably benign |
Het |
Antkmt |
A |
G |
17: 26,010,418 (GRCm39) |
Y104H |
probably damaging |
Het |
Arid4a |
A |
G |
12: 71,119,367 (GRCm39) |
K651E |
probably damaging |
Het |
Atpaf2 |
A |
T |
11: 60,300,410 (GRCm39) |
|
probably null |
Het |
Cd177 |
G |
T |
7: 24,457,440 (GRCm39) |
S200R |
probably benign |
Het |
Cd209g |
A |
T |
8: 4,185,622 (GRCm39) |
T19S |
probably benign |
Het |
Cxcr4 |
A |
G |
1: 128,516,792 (GRCm39) |
W290R |
probably damaging |
Het |
D930020B18Rik |
T |
C |
10: 121,521,489 (GRCm39) |
L491P |
probably damaging |
Het |
Dnah7a |
T |
C |
1: 53,458,843 (GRCm39) |
D3765G |
probably damaging |
Het |
Dpy19l4 |
T |
G |
4: 11,290,411 (GRCm39) |
M327L |
probably benign |
Het |
Eya3 |
G |
A |
4: 132,431,709 (GRCm39) |
G314D |
probably damaging |
Het |
Fmo1 |
G |
A |
1: 162,657,632 (GRCm39) |
T503I |
probably benign |
Het |
Galnt3 |
A |
G |
2: 65,925,628 (GRCm39) |
S370P |
probably damaging |
Het |
Gnai3 |
A |
G |
3: 108,023,073 (GRCm39) |
|
probably benign |
Het |
Gpat2 |
A |
G |
2: 127,276,381 (GRCm39) |
E637G |
probably damaging |
Het |
Gpr84 |
T |
C |
15: 103,217,834 (GRCm39) |
Y81C |
probably damaging |
Het |
Hnmt |
A |
T |
2: 23,893,896 (GRCm39) |
Y199* |
probably null |
Het |
Homer1 |
G |
T |
13: 93,483,156 (GRCm39) |
R81L |
probably damaging |
Het |
Hspa4 |
A |
T |
11: 53,171,544 (GRCm39) |
|
probably null |
Het |
Marchf6 |
A |
G |
15: 31,475,909 (GRCm39) |
I649T |
probably benign |
Het |
Mcm8 |
A |
G |
2: 132,659,094 (GRCm39) |
N26S |
probably benign |
Het |
Mgat5 |
T |
C |
1: 127,315,204 (GRCm39) |
L310P |
probably damaging |
Het |
Pah |
T |
C |
10: 87,414,755 (GRCm39) |
L369P |
probably benign |
Het |
Parp4 |
A |
C |
14: 56,853,917 (GRCm39) |
K844N |
possibly damaging |
Het |
Tlr5 |
A |
G |
1: 182,801,394 (GRCm39) |
T233A |
probably benign |
Het |
Tsnaxip1 |
A |
G |
8: 106,568,055 (GRCm39) |
T274A |
probably benign |
Het |
Wdr48 |
A |
G |
9: 119,734,456 (GRCm39) |
Y125C |
probably damaging |
Het |
|
Other mutations in Gm5431 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00964:Gm5431
|
APN |
11 |
48,780,094 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01571:Gm5431
|
APN |
11 |
48,785,540 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
2015-08-05 |