Incidental Mutation 'R1354:Gimap9'
| ID |
156240 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gimap9
|
| Ensembl Gene |
ENSMUSG00000051124 |
| Gene Name |
GTPase, IMAP family member 9 |
| Synonyms |
|
| MMRRC Submission |
039419-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R1354 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
48653084-48656050 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 48654982 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 190
(M190L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050330
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054050]
[ENSMUST00000147936]
|
| AlphaFold |
G3X987 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054050
AA Change: M190L
PolyPhen 2
Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000050330
Gene: ENSMUSG00000051124
AA Change: M190L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AIG1
|
9 |
219 |
8.5e-83 |
PFAM |
|
Pfam:MMR_HSR1
|
10 |
157 |
3.4e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147936
|
| SMART Domains |
Protein: ENSMUSP00000122830
Gene: ENSMUSG00000051124
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MMR_HSR1
|
1 |
123 |
7.3e-11 |
PFAM |
|
Pfam:AIG1
|
1 |
138 |
5.6e-61 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.9%
- 20x: 92.3%
|
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atoh1 |
A |
G |
6: 64,706,341 (GRCm39) |
E12G |
possibly damaging |
Het |
| Ccdc183 |
T |
C |
2: 25,502,151 (GRCm39) |
N241S |
probably benign |
Het |
| Cmya5 |
G |
A |
13: 93,228,566 (GRCm39) |
T2174I |
possibly damaging |
Het |
| Edem1 |
A |
G |
6: 108,831,277 (GRCm39) |
I579M |
possibly damaging |
Het |
| Glod4 |
A |
T |
11: 76,128,654 (GRCm39) |
|
probably null |
Het |
| Ighv8-6 |
A |
T |
12: 115,129,700 (GRCm39) |
S19T |
probably damaging |
Het |
| Lef1 |
C |
T |
3: 130,988,317 (GRCm39) |
P267S |
probably damaging |
Het |
| Megf11 |
A |
G |
9: 64,560,459 (GRCm39) |
E335G |
probably benign |
Het |
| Muc5ac |
A |
G |
7: 141,361,114 (GRCm39) |
N1475S |
probably damaging |
Het |
| Ndst2 |
C |
A |
14: 20,775,043 (GRCm39) |
R749L |
possibly damaging |
Het |
| Oas3 |
C |
A |
5: 120,908,065 (GRCm39) |
V292L |
possibly damaging |
Het |
| Phactr1 |
A |
T |
13: 43,210,807 (GRCm39) |
I210F |
possibly damaging |
Het |
| Plppr5 |
G |
A |
3: 117,369,496 (GRCm39) |
R51H |
possibly damaging |
Het |
| Ppp1r12b |
G |
A |
1: 134,763,721 (GRCm39) |
T771M |
probably benign |
Het |
| Rasgrf2 |
G |
A |
13: 92,165,174 (GRCm39) |
P331S |
probably damaging |
Het |
| Rtl6 |
C |
T |
15: 84,440,728 (GRCm39) |
V223M |
probably damaging |
Het |
| Tbc1d9 |
A |
C |
8: 83,995,610 (GRCm39) |
|
probably null |
Het |
| Tgm3 |
T |
C |
2: 129,883,818 (GRCm39) |
I492T |
probably benign |
Het |
| Trdv1 |
T |
A |
14: 54,119,375 (GRCm39) |
|
probably benign |
Het |
| Wdr45b |
A |
T |
11: 121,226,256 (GRCm39) |
I191N |
probably damaging |
Het |
|
| Other mutations in Gimap9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01012:Gimap9
|
APN |
6 |
48,654,851 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01568:Gimap9
|
APN |
6 |
48,654,550 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0442:Gimap9
|
UTSW |
6 |
48,655,000 (GRCm39) |
nonsense |
probably null |
|
|
R2276:Gimap9
|
UTSW |
6 |
48,654,812 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6190:Gimap9
|
UTSW |
6 |
48,655,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6930:Gimap9
|
UTSW |
6 |
48,654,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7116:Gimap9
|
UTSW |
6 |
48,654,989 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8819:Gimap9
|
UTSW |
6 |
48,654,821 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8820:Gimap9
|
UTSW |
6 |
48,654,821 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9346:Gimap9
|
UTSW |
6 |
48,654,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9536:Gimap9
|
UTSW |
6 |
48,654,416 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R9559:Gimap9
|
UTSW |
6 |
48,655,134 (GRCm39) |
missense |
probably benign |
0.13 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCGACTGGACCGTTACACTGAAGA -3'
(R):5'- AAAACAATTTGTGCCGCCTTTCCTT -3'
Sequencing Primer
(F):5'- AACGGTCGCTCTGATCAAG -3'
(R):5'- GCCTTTCCTTTTTCTAATTTAGCAG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation