Incidental Mutation 'IGL00584:Gimap7'
| ID |
5450 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gimap7
|
| Ensembl Gene |
ENSMUSG00000043931 |
| Gene Name |
GTPase, IMAP family member 7 |
| Synonyms |
Ian3, IAN7 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
IGL00584
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
48695555-48701570 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 48700667 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 84
(C84*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145238
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052503]
[ENSMUST00000127537]
[ENSMUST00000204785]
|
| AlphaFold |
Q8R379 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000052503
AA Change: C84*
|
| SMART Domains |
Protein: ENSMUSP00000057143
Gene: ENSMUSG00000043931
AA Change: C84*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AIG1
|
9 |
218 |
1.2e-82 |
PFAM |
|
Pfam:MMR_HSR1
|
10 |
144 |
8.7e-11 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000127537
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204266
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204317
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000204785
AA Change: C84*
|
| SMART Domains |
Protein: ENSMUSP00000145238
Gene: ENSMUSG00000043931
AA Change: C84*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FeoB_N
|
9 |
82 |
7.2e-5 |
PFAM |
|
Pfam:AIG1
|
9 |
86 |
3.9e-31 |
PFAM |
|
Pfam:MMR_HSR1
|
10 |
86 |
7.5e-10 |
PFAM |
|
| 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 |
|
| Other mutations in this stock |
Total: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cep162 |
T |
C |
9: 87,103,143 (GRCm39) |
|
probably benign |
Het |
| Ces4a |
G |
T |
8: 105,871,795 (GRCm39) |
M288I |
probably benign |
Het |
| Dusp19 |
G |
A |
2: 80,461,126 (GRCm39) |
|
probably null |
Het |
| Eif4g1 |
C |
A |
16: 20,505,504 (GRCm39) |
|
probably benign |
Het |
| Farp1 |
T |
G |
14: 121,474,561 (GRCm39) |
I258S |
probably damaging |
Het |
| Galnt18 |
T |
A |
7: 111,071,202 (GRCm39) |
Q589L |
probably damaging |
Het |
| Il12rb2 |
T |
C |
6: 67,334,676 (GRCm39) |
T168A |
probably damaging |
Het |
| Krba1 |
T |
C |
6: 48,383,252 (GRCm39) |
L216S |
possibly damaging |
Het |
| Mki67 |
T |
C |
7: 135,297,424 (GRCm39) |
K2537E |
probably damaging |
Het |
| Myo6 |
G |
T |
9: 80,149,555 (GRCm39) |
|
probably benign |
Het |
| Nbea |
T |
A |
3: 55,989,869 (GRCm39) |
N329I |
probably damaging |
Het |
| Ndufb11 |
T |
A |
X: 20,483,339 (GRCm39) |
Q54L |
possibly damaging |
Het |
| Nudt1 |
T |
C |
5: 140,323,465 (GRCm39) |
F139S |
probably damaging |
Het |
| Rgn |
A |
T |
X: 20,423,756 (GRCm39) |
M118L |
probably benign |
Het |
| Syt12 |
C |
T |
19: 4,497,873 (GRCm39) |
V370M |
probably damaging |
Het |
| Syt14 |
A |
T |
1: 192,612,792 (GRCm39) |
N669K |
possibly damaging |
Het |
|
| Other mutations in Gimap7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01508:Gimap7
|
APN |
6 |
48,701,230 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03134:Gimap7
|
UTSW |
6 |
48,700,435 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0848:Gimap7
|
UTSW |
6 |
48,700,657 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1590:Gimap7
|
UTSW |
6 |
48,700,953 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1603:Gimap7
|
UTSW |
6 |
48,700,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1874:Gimap7
|
UTSW |
6 |
48,700,449 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1982:Gimap7
|
UTSW |
6 |
48,701,175 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2471:Gimap7
|
UTSW |
6 |
48,700,986 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3888:Gimap7
|
UTSW |
6 |
48,700,779 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5512:Gimap7
|
UTSW |
6 |
48,700,530 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6378:Gimap7
|
UTSW |
6 |
48,701,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7699:Gimap7
|
UTSW |
6 |
48,700,791 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7700:Gimap7
|
UTSW |
6 |
48,700,791 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9172:Gimap7
|
UTSW |
6 |
48,700,761 (GRCm39) |
nonsense |
probably null |
|
|
R9320:Gimap7
|
UTSW |
6 |
48,701,260 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9627:Gimap7
|
UTSW |
6 |
48,700,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9789:Gimap7
|
UTSW |
6 |
48,700,470 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1176:Gimap7
|
UTSW |
6 |
48,701,087 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1177:Gimap7
|
UTSW |
6 |
48,701,255 (GRCm39) |
frame shift |
probably null |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation