Incidental Mutation 'R2471:Gimap7'
| ID |
253082 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gimap7
|
| Ensembl Gene |
ENSMUSG00000043931 |
| Gene Name |
GTPase, IMAP family member 7 |
| Synonyms |
Ian3, IAN7 |
| MMRRC Submission |
040403-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R2471 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
48695555-48701570 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 48700986 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 191
(V191M)
|
| 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: V191M
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000057143
Gene: ENSMUSG00000043931
AA Change: V191M
| 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 |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
A |
T |
9: 55,888,147 (GRCm39) |
M390K |
probably benign |
Het |
| Bicra |
A |
G |
7: 15,706,257 (GRCm39) |
S1395P |
probably benign |
Het |
| Cacnb2 |
G |
A |
2: 14,989,125 (GRCm39) |
D402N |
probably damaging |
Het |
| Csmd1 |
T |
A |
8: 16,261,776 (GRCm39) |
D907V |
probably damaging |
Het |
| Cstl1 |
T |
A |
2: 148,593,041 (GRCm39) |
Y65* |
probably null |
Het |
| Dnajc1 |
T |
C |
2: 18,224,627 (GRCm39) |
I213V |
possibly damaging |
Het |
| Emcn |
C |
T |
3: 137,109,772 (GRCm39) |
T138M |
probably damaging |
Het |
| F3 |
G |
T |
3: 121,518,689 (GRCm39) |
W51L |
probably damaging |
Het |
| Far2 |
A |
G |
6: 148,040,192 (GRCm39) |
Y41C |
probably damaging |
Het |
| Flrt1 |
A |
T |
19: 7,073,856 (GRCm39) |
D230E |
probably damaging |
Het |
| Gm19402 |
A |
T |
10: 77,526,354 (GRCm39) |
|
probably benign |
Het |
| Ipo5 |
A |
C |
14: 121,159,574 (GRCm39) |
K134T |
probably benign |
Het |
| Kcnf1 |
T |
C |
12: 17,225,531 (GRCm39) |
E230G |
probably damaging |
Het |
| Mad1l1 |
T |
C |
5: 140,247,307 (GRCm39) |
E340G |
probably benign |
Het |
| Map4k5 |
T |
C |
12: 69,903,620 (GRCm39) |
I62V |
probably benign |
Het |
| Marchf7 |
A |
G |
2: 60,067,244 (GRCm39) |
K588R |
possibly damaging |
Het |
| Mctp2 |
T |
A |
7: 71,810,909 (GRCm39) |
K52* |
probably null |
Het |
| Nr1h4 |
A |
T |
10: 89,309,756 (GRCm39) |
F310L |
probably damaging |
Het |
| Ofcc1 |
G |
A |
13: 40,250,501 (GRCm39) |
S605F |
probably damaging |
Het |
| Or2w1b |
A |
T |
13: 21,300,599 (GRCm39) |
T246S |
probably damaging |
Het |
| Or5ac25 |
A |
T |
16: 59,181,944 (GRCm39) |
S212R |
possibly damaging |
Het |
| Or5b97 |
G |
A |
19: 12,878,679 (GRCm39) |
T155I |
probably benign |
Het |
| Pcdh20 |
T |
G |
14: 88,704,672 (GRCm39) |
E876A |
probably benign |
Het |
| Plce1 |
C |
T |
19: 38,768,370 (GRCm39) |
A2215V |
probably damaging |
Het |
| Ptprg |
T |
C |
14: 12,210,327 (GRCm38) |
Y128H |
probably damaging |
Het |
| Sigirr |
A |
G |
7: 140,672,510 (GRCm39) |
L204S |
probably damaging |
Het |
| Slc2a12 |
A |
T |
10: 22,540,706 (GRCm39) |
Y187F |
probably damaging |
Het |
| Slc31a2 |
A |
T |
4: 62,214,312 (GRCm39) |
R86W |
probably null |
Het |
| Smc1b |
T |
C |
15: 84,976,218 (GRCm39) |
K830E |
probably damaging |
Het |
| Ssrp1 |
A |
G |
2: 84,872,642 (GRCm39) |
N427D |
possibly damaging |
Het |
| Taar9 |
A |
T |
10: 23,985,289 (GRCm39) |
F48L |
probably benign |
Het |
| Taok2 |
T |
C |
7: 126,474,272 (GRCm39) |
E319G |
probably damaging |
Het |
| Try10 |
T |
C |
6: 41,333,680 (GRCm39) |
S142P |
probably damaging |
Het |
| Tsc22d1 |
A |
G |
14: 76,655,644 (GRCm39) |
T626A |
probably benign |
Het |
| Zfp101 |
T |
C |
17: 33,599,950 (GRCm39) |
E602G |
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 |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CGCAAAGATGATCTGGAGGACC -3'
(R):5'- CCTCACGAAGGTTTCTTATCTTCAG -3'
Sequencing Primer
(F):5'- TGGAGGACCAGAGCTTAAGC -3'
(R):5'- TCAGATTGTAATTTTCCCTAATGGC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation