Incidental Mutation 'R4281:Gimap8'
| ID |
322890 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gimap8
|
| Ensembl Gene |
ENSMUSG00000064262 |
| Gene Name |
GTPase, IMAP family member 8 |
| Synonyms |
LOC243374, IAN9 |
| MMRRC Submission |
041649-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4281 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
48624168-48637809 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 48635754 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 506
(R506S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145255
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078223]
[ENSMUST00000203083]
[ENSMUST00000203509]
|
| AlphaFold |
Q75N62 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000078223
AA Change: S344R
|
| SMART Domains |
Protein: ENSMUSP00000077350
Gene: ENSMUSG00000064262
AA Change: S344R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
Pfam:AIG1
|
49 |
251 |
1.5e-55 |
PFAM |
|
Pfam:MMR_HSR1
|
50 |
173 |
4.7e-7 |
PFAM |
|
Pfam:AIG1
|
285 |
473 |
7.7e-51 |
PFAM |
|
Pfam:AIG1
|
476 |
682 |
4.2e-67 |
PFAM |
|
Pfam:MMR_HSR1
|
477 |
603 |
3e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203083
AA Change: R506S
PolyPhen 2
Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000145286
Gene: ENSMUSG00000064262
AA Change: R506S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
Pfam:AIG1
|
49 |
251 |
1.5e-55 |
PFAM |
|
Pfam:MMR_HSR1
|
50 |
173 |
4.7e-7 |
PFAM |
|
Pfam:AIG1
|
285 |
473 |
7.7e-51 |
PFAM |
|
Pfam:AIG1
|
476 |
682 |
4.2e-67 |
PFAM |
|
Pfam:MMR_HSR1
|
477 |
603 |
3e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203509
AA Change: R506S
PolyPhen 2
Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000145255
Gene: ENSMUSG00000064262
AA Change: R506S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
Pfam:AIG1
|
49 |
251 |
1.5e-55 |
PFAM |
|
Pfam:MMR_HSR1
|
50 |
173 |
4.7e-7 |
PFAM |
|
Pfam:AIG1
|
285 |
473 |
7.7e-51 |
PFAM |
|
Pfam:AIG1
|
476 |
682 |
4.2e-67 |
PFAM |
|
Pfam:MMR_HSR1
|
477 |
603 |
3e-7 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
92% (44/48) |
| 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. The encoded protein is larger than the other gene family members and includes three AIG1 domains (corresponding to the AIG1 protein from Arabidopsis thaliana) whereas other family members have one AIG1 domain. 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| B9d2 |
A |
G |
7: 25,380,851 (GRCm39) |
T14A |
possibly damaging |
Het |
| Cavin3 |
A |
C |
7: 105,130,981 (GRCm39) |
|
probably null |
Het |
| Defa27 |
A |
G |
8: 21,805,632 (GRCm39) |
N24S |
probably benign |
Het |
| Defb40 |
A |
G |
8: 19,028,093 (GRCm39) |
S14P |
probably damaging |
Het |
| Dnaaf11 |
A |
T |
15: 66,252,378 (GRCm39) |
H429Q |
probably benign |
Het |
| Dnmt3a |
G |
A |
12: 3,951,665 (GRCm39) |
G681R |
probably damaging |
Het |
| Evc2 |
T |
C |
5: 37,495,938 (GRCm39) |
V16A |
probably benign |
Het |
| Fam210b |
T |
C |
2: 172,193,468 (GRCm39) |
Y94H |
probably damaging |
Het |
| Gmip |
T |
A |
8: 70,266,251 (GRCm39) |
|
probably benign |
Het |
| Gpr39 |
G |
A |
1: 125,605,728 (GRCm39) |
V219I |
probably benign |
Het |
| Gsn |
A |
G |
2: 35,188,883 (GRCm39) |
Y434C |
probably damaging |
Het |
| Gtf2a1l |
A |
G |
17: 89,019,065 (GRCm39) |
N383S |
possibly damaging |
Het |
| Hepacam2 |
G |
A |
6: 3,475,938 (GRCm39) |
T329I |
probably damaging |
Het |
| Iqgap3 |
T |
C |
3: 88,006,167 (GRCm39) |
V526A |
probably benign |
Het |
| Magea14 |
T |
C |
X: 51,057,867 (GRCm39) |
Y273C |
probably damaging |
Het |
| Mark4 |
T |
C |
7: 19,167,371 (GRCm39) |
K456R |
probably benign |
Het |
| Nox4 |
A |
G |
7: 86,946,732 (GRCm39) |
I143V |
possibly damaging |
Het |
| Or11h7 |
T |
C |
14: 50,891,029 (GRCm39) |
C112R |
probably benign |
Het |
| Or12j3 |
A |
G |
7: 139,953,385 (GRCm39) |
I46T |
probably benign |
Het |
| Pcdh18 |
A |
G |
3: 49,710,982 (GRCm39) |
L111P |
possibly damaging |
Het |
| Pnma5 |
T |
C |
X: 72,079,036 (GRCm39) |
M549V |
probably benign |
Het |
| Pnpla6 |
T |
C |
8: 3,571,513 (GRCm39) |
L148P |
probably damaging |
Het |
| Ppp4r3c1 |
A |
T |
X: 88,976,105 (GRCm39) |
W31R |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,623,963 (GRCm39) |
|
probably null |
Het |
| Rars1 |
T |
C |
11: 35,712,051 (GRCm39) |
E275G |
probably damaging |
Het |
| Rasa3 |
A |
G |
8: 13,638,946 (GRCm39) |
V287A |
probably benign |
Het |
| Rimbp2 |
C |
T |
5: 128,865,404 (GRCm39) |
R641Q |
possibly damaging |
Het |
| Slco6b1 |
A |
G |
1: 96,925,115 (GRCm39) |
|
noncoding transcript |
Het |
| Sned1 |
A |
T |
1: 93,213,577 (GRCm39) |
R426* |
probably null |
Het |
| Tmem132a |
C |
G |
19: 10,839,090 (GRCm39) |
E451Q |
possibly damaging |
Het |
| Tmem229b-ps |
A |
G |
10: 53,351,474 (GRCm39) |
|
noncoding transcript |
Het |
| Trim33 |
T |
A |
3: 103,236,402 (GRCm39) |
V504D |
probably damaging |
Het |
| Usp47 |
A |
T |
7: 111,709,200 (GRCm39) |
E1315D |
probably benign |
Het |
| Zbtb24 |
T |
C |
10: 41,340,916 (GRCm39) |
S649P |
probably benign |
Het |
| Zfp28 |
A |
T |
7: 6,396,700 (GRCm39) |
Q378H |
probably benign |
Het |
| Zfp612 |
A |
G |
8: 110,816,691 (GRCm39) |
I594V |
probably damaging |
Het |
| Zfp692 |
T |
C |
11: 58,205,091 (GRCm39) |
F447L |
probably damaging |
Het |
| Zranb3 |
A |
C |
1: 127,891,614 (GRCm39) |
S787R |
possibly damaging |
Het |
|
| Other mutations in Gimap8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01341:Gimap8
|
APN |
6 |
48,635,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02830:Gimap8
|
APN |
6 |
48,633,239 (GRCm39) |
missense |
probably benign |
0.01 |
|
Kangchenjunga
|
UTSW |
6 |
48,636,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
lhotse
|
UTSW |
6 |
48,635,888 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
Makalu
|
UTSW |
6 |
48,633,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1224:Gimap8
|
UTSW |
6 |
48,627,629 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1386:Gimap8
|
UTSW |
6 |
48,633,587 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1503:Gimap8
|
UTSW |
6 |
48,624,463 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1560:Gimap8
|
UTSW |
6 |
48,633,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1681:Gimap8
|
UTSW |
6 |
48,633,345 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2012:Gimap8
|
UTSW |
6 |
48,633,287 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2094:Gimap8
|
UTSW |
6 |
48,627,502 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2937:Gimap8
|
UTSW |
6 |
48,635,730 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R2938:Gimap8
|
UTSW |
6 |
48,635,730 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R3147:Gimap8
|
UTSW |
6 |
48,627,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4276:Gimap8
|
UTSW |
6 |
48,636,017 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4294:Gimap8
|
UTSW |
6 |
48,635,891 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4713:Gimap8
|
UTSW |
6 |
48,635,920 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4750:Gimap8
|
UTSW |
6 |
48,627,361 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4896:Gimap8
|
UTSW |
6 |
48,636,281 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4936:Gimap8
|
UTSW |
6 |
48,633,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5041:Gimap8
|
UTSW |
6 |
48,636,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5091:Gimap8
|
UTSW |
6 |
48,633,581 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5215:Gimap8
|
UTSW |
6 |
48,628,017 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5360:Gimap8
|
UTSW |
6 |
48,633,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6119:Gimap8
|
UTSW |
6 |
48,635,888 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6221:Gimap8
|
UTSW |
6 |
48,635,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6450:Gimap8
|
UTSW |
6 |
48,633,385 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7137:Gimap8
|
UTSW |
6 |
48,627,187 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7154:Gimap8
|
UTSW |
6 |
48,633,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7666:Gimap8
|
UTSW |
6 |
48,636,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7686:Gimap8
|
UTSW |
6 |
48,633,006 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7912:Gimap8
|
UTSW |
6 |
48,627,999 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8467:Gimap8
|
UTSW |
6 |
48,627,269 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8773:Gimap8
|
UTSW |
6 |
48,633,545 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9202:Gimap8
|
UTSW |
6 |
48,633,403 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9773:Gimap8
|
UTSW |
6 |
48,633,568 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCCAGTCTCATGTGTGGG -3'
(R):5'- CATGCCTTCTTCGCAGAGAC -3'
Sequencing Primer
(F):5'- ACAGACCTGCTCAGTGATGTCTG -3'
(R):5'- TTCTTCGCAGAGACTCAAACAGTG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation