Incidental Mutation 'IGL01508:Gimap7'
| ID |
89117 |
| 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 # |
IGL01508
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
48695555-48701570 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 48701230 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 272
(N272I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057143
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052503]
[ENSMUST00000127537]
[ENSMUST00000204785]
|
| AlphaFold |
Q8R379 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052503
AA Change: N272I
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000057143
Gene: ENSMUSG00000043931
AA Change: N272I
| 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 benign
Transcript: ENSMUST00000127537
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204266
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204317
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204785
|
| SMART Domains |
Protein: ENSMUSP00000145238
Gene: ENSMUSG00000043931
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
C |
T |
6: 121,636,326 (GRCm39) |
R732* |
probably null |
Het |
| Adarb2 |
C |
A |
13: 8,802,606 (GRCm39) |
|
probably null |
Het |
| Alb |
C |
T |
5: 90,618,697 (GRCm39) |
A430V |
probably benign |
Het |
| Cdhr3 |
A |
T |
12: 33,103,427 (GRCm39) |
F397I |
possibly damaging |
Het |
| Cmya5 |
A |
G |
13: 93,230,535 (GRCm39) |
S1518P |
probably benign |
Het |
| Col6a4 |
T |
A |
9: 105,890,804 (GRCm39) |
Y1830F |
possibly damaging |
Het |
| Col6a6 |
A |
G |
9: 105,604,365 (GRCm39) |
|
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,666,231 (GRCm39) |
S599G |
probably benign |
Het |
| Dnai4 |
G |
A |
4: 102,929,884 (GRCm39) |
P369L |
possibly damaging |
Het |
| Fbxo3 |
A |
T |
2: 103,864,021 (GRCm39) |
H92L |
probably benign |
Het |
| Ffar2 |
T |
C |
7: 30,518,601 (GRCm39) |
D313G |
probably benign |
Het |
| Fnta |
T |
C |
8: 26,497,294 (GRCm39) |
E185G |
probably damaging |
Het |
| Gdap2 |
C |
T |
3: 100,078,243 (GRCm39) |
T69I |
possibly damaging |
Het |
| Gin1 |
T |
C |
1: 97,705,162 (GRCm39) |
V84A |
probably benign |
Het |
| Itga8 |
A |
G |
2: 12,237,613 (GRCm39) |
L369P |
possibly damaging |
Het |
| Itgax |
C |
T |
7: 127,743,990 (GRCm39) |
T891I |
probably damaging |
Het |
| Lama1 |
T |
A |
17: 68,116,356 (GRCm39) |
|
probably benign |
Het |
| Lkaaear1 |
T |
C |
2: 181,338,830 (GRCm39) |
T169A |
probably benign |
Het |
| Nckap5 |
A |
G |
1: 125,953,309 (GRCm39) |
V1017A |
probably damaging |
Het |
| Nemf |
A |
C |
12: 69,391,760 (GRCm39) |
|
probably benign |
Het |
| Osr1 |
A |
G |
12: 9,629,370 (GRCm39) |
D81G |
probably damaging |
Het |
| Pate4 |
A |
T |
9: 35,519,602 (GRCm39) |
C29* |
probably null |
Het |
| Prkce |
C |
T |
17: 86,937,513 (GRCm39) |
R649C |
probably damaging |
Het |
| Ptpn5 |
A |
G |
7: 46,741,303 (GRCm39) |
V14A |
probably benign |
Het |
| Rnf166 |
C |
A |
8: 123,197,081 (GRCm39) |
C57F |
probably damaging |
Het |
| Tenm3 |
A |
G |
8: 48,729,680 (GRCm39) |
I1426T |
probably benign |
Het |
| Trpm6 |
C |
T |
19: 18,773,894 (GRCm39) |
Q424* |
probably null |
Het |
| Ttc27 |
T |
A |
17: 75,142,352 (GRCm39) |
S606T |
probably damaging |
Het |
| Tyrp1 |
T |
C |
4: 80,759,002 (GRCm39) |
S292P |
possibly damaging |
Het |
| Wdr70 |
A |
G |
15: 8,108,747 (GRCm39) |
V133A |
probably benign |
Het |
| Ylpm1 |
T |
C |
12: 85,062,229 (GRCm39) |
F252S |
possibly damaging |
Het |
|
| Other mutations in Gimap7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00584:Gimap7
|
APN |
6 |
48,700,667 (GRCm39) |
nonsense |
probably null |
|
|
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 |
2013-12-03 |
Incidental Mutation