Incidental Mutation 'IGL01931:Gm4922'
| ID |
180433 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gm4922
|
| Ensembl Gene |
ENSMUSG00000044624 |
| Gene Name |
predicted gene 4922 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01931
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
18655475-18662541 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 18660042 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 227
(S227P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149756
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055107]
[ENSMUST00000216654]
|
| AlphaFold |
Q8C0N0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055107
AA Change: S227P
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000055273
Gene: ENSMUSG00000044624
AA Change: S227P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
13 |
N/A |
INTRINSIC |
|
S_TKc
|
28 |
275 |
1.92e-75 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215162
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216654
AA Change: S227P
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930533L02Rik |
A |
G |
7: 124,917,869 (GRCm39) |
E87G |
unknown |
Het |
| Ano2 |
A |
G |
6: 125,959,708 (GRCm39) |
Y656C |
probably damaging |
Het |
| Cckbr |
T |
C |
7: 105,075,310 (GRCm39) |
S27P |
probably benign |
Het |
| Celsr1 |
T |
A |
15: 85,791,861 (GRCm39) |
N2580I |
probably damaging |
Het |
| Cfap221 |
A |
G |
1: 119,860,625 (GRCm39) |
L667P |
probably damaging |
Het |
| Col16a1 |
T |
C |
4: 129,966,634 (GRCm39) |
C555R |
possibly damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,114,973 (GRCm39) |
V162A |
probably damaging |
Het |
| Dync2h1 |
G |
A |
9: 7,011,207 (GRCm39) |
S3669L |
probably benign |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Grin2c |
A |
G |
11: 115,144,736 (GRCm39) |
F597L |
probably damaging |
Het |
| Hook3 |
G |
A |
8: 26,578,083 (GRCm39) |
|
probably benign |
Het |
| Ltv1 |
A |
G |
10: 13,061,245 (GRCm39) |
I106T |
probably damaging |
Het |
| Mdc1 |
T |
C |
17: 36,159,123 (GRCm39) |
V501A |
probably benign |
Het |
| Myo15a |
T |
A |
11: 60,386,964 (GRCm39) |
C667S |
probably damaging |
Het |
| Myom3 |
T |
C |
4: 135,516,950 (GRCm39) |
V840A |
probably benign |
Het |
| Naip1 |
G |
T |
13: 100,545,540 (GRCm39) |
C1329* |
probably null |
Het |
| Oas1c |
A |
C |
5: 120,943,560 (GRCm39) |
I193S |
probably benign |
Het |
| Osbp2 |
C |
T |
11: 3,655,388 (GRCm39) |
|
probably null |
Het |
| Phf1 |
T |
C |
17: 27,154,509 (GRCm39) |
|
probably benign |
Het |
| Pisd |
C |
A |
5: 32,896,476 (GRCm39) |
|
probably null |
Het |
| Ppox |
T |
C |
1: 171,105,456 (GRCm39) |
Q302R |
probably null |
Het |
| Sec24b |
G |
A |
3: 129,803,448 (GRCm39) |
P305S |
probably benign |
Het |
| Spink5 |
A |
T |
18: 44,148,705 (GRCm39) |
I923F |
probably benign |
Het |
| Thsd7a |
A |
T |
6: 12,504,098 (GRCm39) |
V352E |
probably damaging |
Het |
| Tpi1 |
A |
G |
6: 124,789,603 (GRCm39) |
V152A |
possibly damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Wdfy4 |
C |
T |
14: 32,877,710 (GRCm39) |
G85S |
probably damaging |
Het |
| Wnk4 |
A |
G |
11: 101,159,310 (GRCm39) |
T139A |
possibly damaging |
Het |
| Zfp345 |
T |
C |
2: 150,315,270 (GRCm39) |
H89R |
probably benign |
Het |
|
| Other mutations in Gm4922 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01810:Gm4922
|
APN |
10 |
18,659,795 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL01818:Gm4922
|
APN |
10 |
18,660,701 (GRCm39) |
missense |
unknown |
|
|
IGL02021:Gm4922
|
APN |
10 |
18,660,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02573:Gm4922
|
APN |
10 |
18,659,423 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03305:Gm4922
|
APN |
10 |
18,659,232 (GRCm39) |
nonsense |
probably null |
|
|
R0149:Gm4922
|
UTSW |
10 |
18,659,289 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0361:Gm4922
|
UTSW |
10 |
18,659,289 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0564:Gm4922
|
UTSW |
10 |
18,659,813 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1079:Gm4922
|
UTSW |
10 |
18,660,086 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1163:Gm4922
|
UTSW |
10 |
18,659,469 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1164:Gm4922
|
UTSW |
10 |
18,659,469 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1398:Gm4922
|
UTSW |
10 |
18,659,496 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1458:Gm4922
|
UTSW |
10 |
18,659,640 (GRCm39) |
nonsense |
probably null |
|
|
R1867:Gm4922
|
UTSW |
10 |
18,660,211 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1994:Gm4922
|
UTSW |
10 |
18,659,388 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2146:Gm4922
|
UTSW |
10 |
18,659,264 (GRCm39) |
missense |
probably benign |
|
|
R2437:Gm4922
|
UTSW |
10 |
18,659,829 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3551:Gm4922
|
UTSW |
10 |
18,660,244 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3939:Gm4922
|
UTSW |
10 |
18,660,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4580:Gm4922
|
UTSW |
10 |
18,659,432 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4602:Gm4922
|
UTSW |
10 |
18,660,007 (GRCm39) |
nonsense |
probably null |
|
|
R4704:Gm4922
|
UTSW |
10 |
18,660,567 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4790:Gm4922
|
UTSW |
10 |
18,659,916 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R5478:Gm4922
|
UTSW |
10 |
18,659,885 (GRCm39) |
missense |
probably benign |
|
|
R5510:Gm4922
|
UTSW |
10 |
18,659,745 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5694:Gm4922
|
UTSW |
10 |
18,660,035 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6080:Gm4922
|
UTSW |
10 |
18,660,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6869:Gm4922
|
UTSW |
10 |
18,660,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6923:Gm4922
|
UTSW |
10 |
18,659,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7667:Gm4922
|
UTSW |
10 |
18,660,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8198:Gm4922
|
UTSW |
10 |
18,659,340 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8270:Gm4922
|
UTSW |
10 |
18,659,760 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8310:Gm4922
|
UTSW |
10 |
18,659,536 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9454:Gm4922
|
UTSW |
10 |
18,660,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation