Incidental Mutation 'IGL02450:Gimap6'
| ID |
294146 |
| 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 # |
IGL02450
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
48678516-48685159 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 48681351 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 94
(I94M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113918
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053661]
[ENSMUST00000119315]
[ENSMUST00000126422]
|
| AlphaFold |
Q8K349 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053661
|
| SMART Domains |
Protein: ENSMUSP00000059371
Gene: ENSMUSG00000047867
| 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
AA Change: I94M
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000113918
Gene: ENSMUSG00000047867
AA Change: I94M
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aco2 |
A |
G |
15: 81,798,963 (GRCm39) |
*781W |
probably null |
Het |
| Adamts16 |
C |
A |
13: 70,984,419 (GRCm39) |
R81S |
probably damaging |
Het |
| Aldh1l1 |
A |
G |
6: 90,546,855 (GRCm39) |
D386G |
probably benign |
Het |
| Anxa6 |
G |
A |
11: 54,885,767 (GRCm39) |
R393W |
probably damaging |
Het |
| Bdnf |
G |
A |
2: 109,553,949 (GRCm39) |
V108I |
possibly damaging |
Het |
| Bpgm |
C |
T |
6: 34,464,399 (GRCm39) |
R39W |
probably damaging |
Het |
| Cd101 |
T |
C |
3: 100,901,054 (GRCm39) |
E1006G |
probably damaging |
Het |
| Cd109 |
A |
T |
9: 78,603,132 (GRCm39) |
E972V |
possibly damaging |
Het |
| Cdhr3 |
T |
A |
12: 33,132,224 (GRCm39) |
Q133L |
probably benign |
Het |
| Cdk5r1 |
C |
T |
11: 80,368,666 (GRCm39) |
A111V |
probably benign |
Het |
| Cnga4 |
A |
T |
7: 105,054,955 (GRCm39) |
I77F |
probably damaging |
Het |
| Egfem1 |
G |
A |
3: 29,711,417 (GRCm39) |
|
probably null |
Het |
| Fbxl21 |
T |
A |
13: 56,674,766 (GRCm39) |
V39D |
possibly damaging |
Het |
| Glis1 |
T |
C |
4: 107,484,726 (GRCm39) |
V407A |
probably benign |
Het |
| Gm5784 |
C |
T |
12: 19,437,970 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9839 |
A |
T |
1: 32,559,964 (GRCm39) |
|
probably benign |
Het |
| Heatr5a |
T |
A |
12: 51,992,213 (GRCm39) |
M566L |
probably benign |
Het |
| Jph1 |
G |
A |
1: 17,074,201 (GRCm39) |
P606S |
possibly damaging |
Het |
| Jup |
C |
T |
11: 100,269,183 (GRCm39) |
C410Y |
probably damaging |
Het |
| Kif23 |
A |
G |
9: 61,831,239 (GRCm39) |
M777T |
probably benign |
Het |
| Lifr |
G |
T |
15: 7,220,246 (GRCm39) |
D959Y |
probably damaging |
Het |
| Lsm1 |
C |
A |
8: 26,283,806 (GRCm39) |
L73I |
possibly damaging |
Het |
| Maneal |
G |
A |
4: 124,750,928 (GRCm39) |
A276V |
probably benign |
Het |
| Myh4 |
A |
G |
11: 67,142,635 (GRCm39) |
D932G |
probably damaging |
Het |
| Nipbl |
C |
T |
15: 8,373,058 (GRCm39) |
V1063M |
probably damaging |
Het |
| Nlrx1 |
A |
G |
9: 44,164,798 (GRCm39) |
V882A |
probably benign |
Het |
| Obox6 |
A |
G |
7: 15,567,638 (GRCm39) |
C270R |
probably damaging |
Het |
| Or13a19 |
A |
G |
7: 139,903,140 (GRCm39) |
H176R |
possibly damaging |
Het |
| Pard3b |
A |
G |
1: 62,571,835 (GRCm39) |
I925V |
possibly damaging |
Het |
| Pdhx |
A |
G |
2: 102,872,594 (GRCm39) |
S163P |
probably benign |
Het |
| Pdzrn3 |
T |
C |
6: 101,331,461 (GRCm39) |
D271G |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,075,515 (GRCm39) |
I399T |
probably damaging |
Het |
| Pthlh |
T |
G |
6: 147,158,666 (GRCm39) |
D98A |
possibly damaging |
Het |
| Spata31f3 |
A |
G |
4: 42,874,127 (GRCm39) |
S14P |
probably benign |
Het |
| Spock3 |
T |
A |
8: 63,698,249 (GRCm39) |
|
probably null |
Het |
| Tgtp2 |
C |
T |
11: 48,950,317 (GRCm39) |
G85D |
probably benign |
Het |
| Tmem94 |
A |
G |
11: 115,683,897 (GRCm39) |
D739G |
probably damaging |
Het |
| Washc5 |
G |
A |
15: 59,204,166 (GRCm39) |
R706* |
probably null |
Het |
| Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
probably benign |
Het |
| Zscan20 |
G |
T |
4: 128,480,450 (GRCm39) |
D680E |
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 |
|
IGL00896:Gimap6
|
APN |
6 |
48,679,394 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02126:Gimap6
|
APN |
6 |
48,679,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-04-16 |
Incidental Mutation