Incidental Mutation 'IGL00896:Gimap6'
| ID |
27577 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gimap6
|
| Ensembl Gene |
ENSMUSG00000047867 |
| Gene Name |
GTPase, IMAP family member 6 |
| Synonyms |
4833419H03Rik, Ian6 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00896
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
48678516-48685159 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 48679394 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 214
(N214S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059371
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053661]
[ENSMUST00000119315]
[ENSMUST00000126422]
|
| AlphaFold |
Q8K349 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053661
AA Change: N214S
PolyPhen 2
Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000059371
Gene: ENSMUSG00000047867
AA Change: N214S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
66 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
87 |
102 |
N/A |
INTRINSIC |
|
Pfam:AIG1
|
104 |
303 |
7.7e-73 |
PFAM |
|
Pfam:MMR_HSR1
|
105 |
226 |
2.8e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119315
|
| SMART Domains |
Protein: ENSMUSP00000113918
Gene: ENSMUSG00000047867
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
66 |
71 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126422
|
| SMART Domains |
Protein: ENSMUSP00000145325
Gene: ENSMUSG00000047867
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
66 |
71 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132725
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
All alleles(1) : Targeted, other(1) |
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6a |
A |
G |
12: 113,509,030 (GRCm39) |
T468A |
possibly damaging |
Het |
| Ankrd35 |
A |
G |
3: 96,591,592 (GRCm39) |
E626G |
probably damaging |
Het |
| Arhgef4 |
A |
G |
1: 34,850,777 (GRCm39) |
Y1812C |
possibly damaging |
Het |
| Aurkc |
T |
C |
7: 7,005,513 (GRCm39) |
Y260H |
possibly damaging |
Het |
| Bltp1 |
A |
G |
3: 37,093,611 (GRCm39) |
T4352A |
probably benign |
Het |
| Cpb1 |
A |
G |
3: 20,306,193 (GRCm39) |
V329A |
probably benign |
Het |
| Cyp2d11 |
G |
T |
15: 82,275,275 (GRCm39) |
|
probably benign |
Het |
| Dnase1 |
G |
A |
16: 3,857,076 (GRCm39) |
S28N |
probably benign |
Het |
| Drgx |
C |
T |
14: 32,327,171 (GRCm39) |
|
probably benign |
Het |
| Evpl |
C |
A |
11: 116,113,410 (GRCm39) |
E1427* |
probably null |
Het |
| Htr1f |
A |
T |
16: 64,746,469 (GRCm39) |
H274Q |
probably benign |
Het |
| Ipo9 |
A |
T |
1: 135,327,797 (GRCm39) |
V538E |
probably damaging |
Het |
| Lmf2 |
T |
C |
15: 89,237,539 (GRCm39) |
K308E |
probably benign |
Het |
| Mog |
T |
A |
17: 37,328,377 (GRCm39) |
|
probably null |
Het |
| Myo19 |
T |
C |
11: 84,800,324 (GRCm39) |
V903A |
probably benign |
Het |
| Myt1l |
A |
G |
12: 29,876,885 (GRCm39) |
T179A |
unknown |
Het |
| Nckap1 |
C |
T |
2: 80,411,297 (GRCm39) |
V5M |
possibly damaging |
Het |
| Or1e23 |
T |
C |
11: 73,407,167 (GRCm39) |
N286S |
probably damaging |
Het |
| Or51l4 |
T |
C |
7: 103,404,213 (GRCm39) |
D193G |
probably damaging |
Het |
| Or9a2 |
A |
T |
6: 41,749,047 (GRCm39) |
L62Q |
probably damaging |
Het |
| Pcdhb5 |
T |
G |
18: 37,455,838 (GRCm39) |
|
probably null |
Het |
| Pcm1 |
C |
A |
8: 41,729,160 (GRCm39) |
Q711K |
possibly damaging |
Het |
| Pde6a |
A |
G |
18: 61,353,864 (GRCm39) |
D63G |
possibly damaging |
Het |
| Piezo1 |
T |
C |
8: 123,224,609 (GRCm39) |
M711V |
possibly damaging |
Het |
| Rev1 |
G |
A |
1: 38,138,021 (GRCm39) |
T88I |
probably damaging |
Het |
| Sntg1 |
A |
T |
1: 8,665,634 (GRCm39) |
|
probably null |
Het |
| Sult2a1 |
T |
A |
7: 13,566,565 (GRCm39) |
T137S |
probably benign |
Het |
| Txndc15 |
G |
A |
13: 55,873,488 (GRCm39) |
A283T |
probably damaging |
Het |
| Zswim8 |
A |
G |
14: 20,766,069 (GRCm39) |
E785G |
probably damaging |
Het |
|
| Other mutations in Gimap6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00588:Gimap6
|
APN |
6 |
48,679,355 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02126:Gimap6
|
APN |
6 |
48,679,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02450:Gimap6
|
APN |
6 |
48,681,351 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02493:Gimap6
|
APN |
6 |
48,679,603 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02601:Gimap6
|
APN |
6 |
48,679,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
natural
|
UTSW |
6 |
48,679,388 (GRCm39) |
missense |
probably damaging |
0.99 |
|
N/A:Gimap6
|
UTSW |
6 |
48,679,349 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4515001:Gimap6
|
UTSW |
6 |
48,679,502 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4519001:Gimap6
|
UTSW |
6 |
48,684,995 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0066:Gimap6
|
UTSW |
6 |
48,679,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0066:Gimap6
|
UTSW |
6 |
48,679,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1594:Gimap6
|
UTSW |
6 |
48,679,125 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2233:Gimap6
|
UTSW |
6 |
48,681,418 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4982:Gimap6
|
UTSW |
6 |
48,684,933 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5664:Gimap6
|
UTSW |
6 |
48,679,209 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6235:Gimap6
|
UTSW |
6 |
48,679,391 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7469:Gimap6
|
UTSW |
6 |
48,679,392 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7997:Gimap6
|
UTSW |
6 |
48,679,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8715:Gimap6
|
UTSW |
6 |
48,679,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8910:Gimap6
|
UTSW |
6 |
48,679,388 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9638:Gimap6
|
UTSW |
6 |
48,679,424 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9699:Gimap6
|
UTSW |
6 |
48,684,951 (GRCm39) |
missense |
probably benign |
0.41 |
|
| Posted On |
2013-04-17 |
Incidental Mutation