Incidental Mutation 'IGL00323:Gm13941'
ID |
332247 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gm13941
|
Ensembl Gene |
ENSMUSG00000079170 |
Gene Name |
predicted gene 13941 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
IGL00323
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
110885009-110935204 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 110935198 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 11
(M11L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115383
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000127918]
|
AlphaFold |
A2AJ38 |
Predicted Effect |
unknown
Transcript: ENSMUST00000127918
AA Change: M11L
|
SMART Domains |
Protein: ENSMUSP00000115383 Gene: ENSMUSG00000079170 AA Change: M11L
Domain | Start | End | E-Value | Type |
low complexity region
|
225 |
244 |
N/A |
INTRINSIC |
|
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 |
Ap5m1 |
T |
C |
14: 49,311,247 (GRCm39) |
Y106H |
probably damaging |
Het |
Atrnl1 |
C |
A |
19: 57,680,249 (GRCm39) |
N716K |
probably benign |
Het |
Ccnq |
A |
G |
11: 78,641,782 (GRCm39) |
V236A |
probably benign |
Het |
Cdk13 |
A |
T |
13: 17,895,683 (GRCm39) |
N1075K |
possibly damaging |
Het |
Daam1 |
G |
A |
12: 72,005,517 (GRCm39) |
|
probably benign |
Het |
Exd2 |
T |
C |
12: 80,522,940 (GRCm39) |
V133A |
probably damaging |
Het |
Glrb |
T |
C |
3: 80,769,262 (GRCm39) |
D155G |
probably damaging |
Het |
Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
Inpp5d |
G |
T |
1: 87,611,537 (GRCm39) |
V329F |
probably benign |
Het |
Lilrb4b |
A |
T |
10: 51,357,347 (GRCm39) |
D61V |
probably benign |
Het |
Malt1 |
T |
A |
18: 65,582,034 (GRCm39) |
C299* |
probably null |
Het |
Or10j27 |
G |
A |
1: 172,957,978 (GRCm39) |
Q269* |
probably null |
Het |
Or4f14 |
A |
T |
2: 111,742,381 (GRCm39) |
M298K |
possibly damaging |
Het |
Pigk |
C |
A |
3: 152,453,269 (GRCm39) |
S282* |
probably null |
Het |
Pik3r1 |
T |
A |
13: 101,827,044 (GRCm39) |
M1L |
probably benign |
Het |
Pnpla1 |
A |
G |
17: 29,096,416 (GRCm39) |
Y165C |
probably damaging |
Het |
Rfx7 |
A |
G |
9: 72,524,702 (GRCm39) |
N631D |
probably damaging |
Het |
Rp1 |
T |
A |
1: 4,416,969 (GRCm39) |
D1381V |
probably damaging |
Het |
Rrp8 |
T |
C |
7: 105,382,223 (GRCm39) |
|
probably benign |
Het |
Scn4a |
A |
T |
11: 106,210,745 (GRCm39) |
D1757E |
probably benign |
Het |
Sec62 |
T |
C |
3: 30,864,591 (GRCm39) |
|
probably benign |
Het |
Smarca5 |
G |
A |
8: 81,440,670 (GRCm39) |
T598M |
probably benign |
Het |
Sptbn5 |
T |
C |
2: 119,884,948 (GRCm39) |
|
probably benign |
Het |
Srcap |
T |
C |
7: 127,141,885 (GRCm39) |
|
probably benign |
Het |
Stab1 |
T |
A |
14: 30,861,263 (GRCm39) |
E71D |
probably benign |
Het |
Trhde |
A |
T |
10: 114,322,652 (GRCm39) |
S716R |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,726,859 (GRCm39) |
|
probably benign |
Het |
Wscd2 |
A |
C |
5: 113,689,236 (GRCm39) |
T81P |
possibly damaging |
Het |
Zfp335 |
G |
A |
2: 164,734,302 (GRCm39) |
T1295I |
probably damaging |
Het |
|
Other mutations in Gm13941 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00420:Gm13941
|
APN |
2 |
110,922,193 (GRCm39) |
splice site |
probably benign |
|
IGL01149:Gm13941
|
APN |
2 |
110,931,482 (GRCm39) |
missense |
unknown |
|
IGL01319:Gm13941
|
APN |
2 |
110,925,150 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL02557:Gm13941
|
APN |
2 |
110,931,501 (GRCm39) |
missense |
unknown |
|
IGL03163:Gm13941
|
APN |
2 |
110,928,761 (GRCm39) |
missense |
unknown |
|
R0067:Gm13941
|
UTSW |
2 |
110,889,761 (GRCm39) |
unclassified |
noncoding transcript |
|
R0918:Gm13941
|
UTSW |
2 |
110,930,945 (GRCm39) |
missense |
unknown |
|
R2315:Gm13941
|
UTSW |
2 |
110,935,162 (GRCm39) |
missense |
unknown |
|
R3847:Gm13941
|
UTSW |
2 |
110,935,198 (GRCm39) |
missense |
unknown |
|
R3848:Gm13941
|
UTSW |
2 |
110,935,198 (GRCm39) |
missense |
unknown |
|
R5416:Gm13941
|
UTSW |
2 |
110,925,079 (GRCm39) |
missense |
unknown |
|
R5574:Gm13941
|
UTSW |
2 |
110,930,951 (GRCm39) |
missense |
unknown |
|
R6389:Gm13941
|
UTSW |
2 |
110,928,734 (GRCm39) |
missense |
unknown |
|
R6616:Gm13941
|
UTSW |
2 |
110,931,520 (GRCm39) |
missense |
unknown |
|
R7056:Gm13941
|
UTSW |
2 |
110,927,147 (GRCm39) |
missense |
unknown |
|
R7455:Gm13941
|
UTSW |
2 |
110,925,085 (GRCm39) |
missense |
unknown |
|
R8197:Gm13941
|
UTSW |
2 |
110,926,921 (GRCm39) |
splice site |
probably null |
|
R9116:Gm13941
|
UTSW |
2 |
110,935,146 (GRCm39) |
missense |
unknown |
|
R9164:Gm13941
|
UTSW |
2 |
110,936,324 (GRCm39) |
missense |
unknown |
|
R9536:Gm13941
|
UTSW |
2 |
110,918,861 (GRCm39) |
missense |
unknown |
|
R9763:Gm13941
|
UTSW |
2 |
110,931,518 (GRCm39) |
missense |
unknown |
|
Z1177:Gm13941
|
UTSW |
2 |
110,925,123 (GRCm39) |
missense |
unknown |
|
|
Posted On |
2015-08-05 |