Incidental Mutation 'IGL00737:AI597479'
| ID |
8693 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
AI597479
|
| Ensembl Gene |
ENSMUSG00000010290 |
| Gene Name |
expressed sequence AI597479 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
IGL00737
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
43137870-43155106 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 43140018 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 81
(H81Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000010434
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010434]
[ENSMUST00000095014]
[ENSMUST00000189010]
[ENSMUST00000190427]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000010434
AA Change: H81Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000010434
Gene: ENSMUSG00000010290
AA Change: H81Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ashwin
|
13 |
232 |
8.7e-84 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095014
|
| SMART Domains |
Protein: ENSMUSP00000092624
Gene: ENSMUSG00000070939
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CNH
|
30 |
293 |
3.3e-15 |
PFAM |
|
Pfam:Vps39_1
|
448 |
550 |
3.3e-26 |
PFAM |
|
Pfam:Clathrin
|
572 |
730 |
5.3e-13 |
PFAM |
|
Pfam:Vps39_2
|
738 |
846 |
2e-35 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187872
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189010
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190427
|
| SMART Domains |
Protein: ENSMUSP00000140384
Gene: ENSMUSG00000070939
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CNH
|
1 |
53 |
2e-4 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
A |
T |
11: 110,087,823 (GRCm39) |
|
probably benign |
Het |
| Alcam |
A |
T |
16: 52,073,543 (GRCm39) |
L561Q |
unknown |
Het |
| Cd8a |
T |
C |
6: 71,350,691 (GRCm39) |
V52A |
probably benign |
Het |
| Cgas |
G |
A |
9: 78,342,770 (GRCm39) |
P344L |
probably damaging |
Het |
| Cpsf2 |
T |
C |
12: 101,949,725 (GRCm39) |
V119A |
probably damaging |
Het |
| Cry1 |
T |
C |
10: 84,978,904 (GRCm39) |
N541D |
probably benign |
Het |
| Dock8 |
A |
G |
19: 25,160,340 (GRCm39) |
T1748A |
probably benign |
Het |
| Kifap3 |
A |
T |
1: 163,624,839 (GRCm39) |
I132F |
probably damaging |
Het |
| Lcor |
A |
G |
19: 41,541,139 (GRCm39) |
T68A |
probably damaging |
Het |
| Lpcat2 |
A |
G |
8: 93,635,834 (GRCm39) |
D372G |
probably damaging |
Het |
| Mrpl30 |
G |
A |
1: 37,934,457 (GRCm39) |
R33H |
probably benign |
Het |
| Ncstn |
A |
G |
1: 171,901,968 (GRCm39) |
Y151H |
probably benign |
Het |
| Parp4 |
A |
G |
14: 56,821,620 (GRCm39) |
T2A |
probably damaging |
Het |
| Plxna2 |
G |
A |
1: 194,428,547 (GRCm39) |
|
probably benign |
Het |
| Pum2 |
A |
G |
12: 8,783,381 (GRCm39) |
Y610C |
probably damaging |
Het |
| Rabl6 |
T |
C |
2: 25,474,132 (GRCm39) |
|
probably benign |
Het |
| Wdr33 |
T |
A |
18: 32,011,169 (GRCm39) |
W273R |
probably damaging |
Het |
| Wdr59 |
T |
C |
8: 112,185,368 (GRCm39) |
N855S |
probably damaging |
Het |
| Wipi2 |
T |
A |
5: 142,652,625 (GRCm39) |
D412E |
probably benign |
Het |
| Zfp28 |
T |
C |
7: 6,396,429 (GRCm39) |
*56Q |
probably null |
Het |
| Zfyve16 |
T |
A |
13: 92,657,626 (GRCm39) |
K762* |
probably null |
Het |
|
| Other mutations in AI597479 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0329:AI597479
|
UTSW |
1 |
43,150,277 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0330:AI597479
|
UTSW |
1 |
43,150,277 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0799:AI597479
|
UTSW |
1 |
43,150,330 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1463:AI597479
|
UTSW |
1 |
43,152,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1973:AI597479
|
UTSW |
1 |
43,150,286 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2055:AI597479
|
UTSW |
1 |
43,150,280 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2187:AI597479
|
UTSW |
1 |
43,139,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4434:AI597479
|
UTSW |
1 |
43,139,959 (GRCm39) |
nonsense |
probably null |
|
|
R6593:AI597479
|
UTSW |
1 |
43,150,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7156:AI597479
|
UTSW |
1 |
43,150,261 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7536:AI597479
|
UTSW |
1 |
43,150,505 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9375:AI597479
|
UTSW |
1 |
43,150,505 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
Z1176:AI597479
|
UTSW |
1 |
43,152,350 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:AI597479
|
UTSW |
1 |
43,150,279 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation