Incidental Mutation 'IGL03049:Gm14393'
ID |
409004 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gm14393
|
Ensembl Gene |
ENSMUSG00000078905 |
Gene Name |
predicted gene 14393 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.149)
|
Stock # |
IGL03049
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
174903342-174909574 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 174903581 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Cysteine
at position 109
(G109C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000072668
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072895]
[ENSMUST00000109066]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000072895
AA Change: G109C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000072668 Gene: ENSMUSG00000078905 AA Change: G109C
Domain | Start | End | E-Value | Type |
KRAB
|
4 |
66 |
9.34e-15 |
SMART |
ZnF_C2H2
|
103 |
125 |
8.47e-4 |
SMART |
ZnF_C2H2
|
131 |
153 |
9.22e-5 |
SMART |
ZnF_C2H2
|
159 |
181 |
1.03e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109066
|
SMART Domains |
Protein: ENSMUSP00000104694 Gene: ENSMUSG00000078905
Domain | Start | End | E-Value | Type |
KRAB
|
4 |
64 |
1.21e-13 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122320
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgef19 |
A |
G |
4: 140,981,627 (GRCm39) |
H645R |
probably damaging |
Het |
Asic5 |
A |
G |
3: 81,904,256 (GRCm39) |
|
probably benign |
Het |
Atp6v0a2 |
T |
C |
5: 124,789,845 (GRCm39) |
F424L |
probably damaging |
Het |
Clca4a |
A |
T |
3: 144,676,516 (GRCm39) |
|
probably benign |
Het |
Eif3k |
A |
G |
7: 28,670,858 (GRCm39) |
S178P |
possibly damaging |
Het |
Elp2 |
C |
T |
18: 24,764,516 (GRCm39) |
T621I |
probably benign |
Het |
Exoc3l4 |
T |
C |
12: 111,389,835 (GRCm39) |
S137P |
probably damaging |
Het |
Gp2 |
A |
G |
7: 119,049,517 (GRCm39) |
V340A |
possibly damaging |
Het |
Hic2 |
A |
G |
16: 17,075,800 (GRCm39) |
S210G |
probably benign |
Het |
Lcn3 |
T |
A |
2: 25,655,586 (GRCm39) |
M1K |
probably null |
Het |
Ldlr |
A |
G |
9: 21,657,115 (GRCm39) |
E692G |
probably benign |
Het |
Ly75 |
T |
C |
2: 60,182,414 (GRCm39) |
N587S |
probably damaging |
Het |
Msh2 |
T |
C |
17: 88,015,937 (GRCm39) |
F523S |
probably damaging |
Het |
Mtmr4 |
T |
A |
11: 87,505,060 (GRCm39) |
I1185N |
probably damaging |
Het |
Ncoa6 |
T |
A |
2: 155,260,934 (GRCm39) |
K519N |
probably damaging |
Het |
Or4c103 |
C |
T |
2: 88,513,834 (GRCm39) |
V81M |
possibly damaging |
Het |
Or52z14 |
A |
T |
7: 103,253,298 (GRCm39) |
I146F |
probably damaging |
Het |
Or7c70 |
T |
A |
10: 78,683,356 (GRCm39) |
H131L |
possibly damaging |
Het |
Ppp1r13b |
T |
C |
12: 111,799,663 (GRCm39) |
T705A |
probably benign |
Het |
Ripor1 |
A |
G |
8: 106,342,079 (GRCm39) |
D119G |
probably damaging |
Het |
Scn10a |
A |
G |
9: 119,495,056 (GRCm39) |
V395A |
probably damaging |
Het |
Slc18b1 |
T |
C |
10: 23,698,844 (GRCm39) |
V338A |
probably benign |
Het |
Usp10 |
A |
G |
8: 120,683,366 (GRCm39) |
T746A |
probably benign |
Het |
|
Other mutations in Gm14393 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02873:Gm14393
|
APN |
2 |
174,903,595 (GRCm39) |
missense |
possibly damaging |
0.53 |
FR4340:Gm14393
|
UTSW |
2 |
174,903,427 (GRCm39) |
missense |
possibly damaging |
0.48 |
FR4976:Gm14393
|
UTSW |
2 |
174,903,613 (GRCm39) |
missense |
probably benign |
|
R1470:Gm14393
|
UTSW |
2 |
174,905,774 (GRCm39) |
missense |
probably damaging |
1.00 |
R1470:Gm14393
|
UTSW |
2 |
174,905,774 (GRCm39) |
missense |
probably damaging |
1.00 |
R3940:Gm14393
|
UTSW |
2 |
174,903,420 (GRCm39) |
splice site |
probably null |
|
R4214:Gm14393
|
UTSW |
2 |
174,903,640 (GRCm39) |
missense |
probably benign |
0.00 |
R4585:Gm14393
|
UTSW |
2 |
174,904,497 (GRCm39) |
unclassified |
probably benign |
|
R4586:Gm14393
|
UTSW |
2 |
174,904,497 (GRCm39) |
unclassified |
probably benign |
|
R5431:Gm14393
|
UTSW |
2 |
174,905,669 (GRCm39) |
missense |
probably damaging |
0.97 |
R5553:Gm14393
|
UTSW |
2 |
174,903,639 (GRCm39) |
nonsense |
probably null |
|
R5942:Gm14393
|
UTSW |
2 |
174,903,689 (GRCm39) |
nonsense |
probably null |
|
R6497:Gm14393
|
UTSW |
2 |
174,903,427 (GRCm39) |
missense |
possibly damaging |
0.48 |
R7154:Gm14393
|
UTSW |
2 |
174,903,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |