Incidental Mutation 'IGL02371:Gimap5'
| ID |
290936 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gimap5
|
| Ensembl Gene |
ENSMUSG00000043505 |
| Gene Name |
GTPase, IMAP family member 5 |
| Synonyms |
E230026N22Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02371
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
48723131-48731134 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 48729937 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 169
(N169I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056820
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055558]
[ENSMUST00000127537]
[ENSMUST00000204408]
|
| AlphaFold |
Q8BWF2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055558
AA Change: N169I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000056820
Gene: ENSMUSG00000043505
AA Change: N169I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AIG1
|
27 |
240 |
5.4e-80 |
PFAM |
|
Pfam:MMR_HSR1
|
28 |
151 |
9.5e-8 |
PFAM |
|
transmembrane domain
|
283 |
305 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127537
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203006
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204408
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204490
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205203
|
| 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]
PHENOTYPE: Mice homozygouse for a knock-out allele display defects in lymphocyte development with hematopoietic defects and reduced life span. Mice homozygous for an ENU-induced allele exhibit premature death associated with extramedullary hematopoiesis in the liver, anemia, cachexia, and colitis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arfgef3 |
T |
C |
10: 18,522,287 (GRCm39) |
T580A |
probably benign |
Het |
| Casp2 |
T |
A |
6: 42,244,902 (GRCm39) |
D100E |
probably benign |
Het |
| Cd1d1 |
C |
A |
3: 86,906,188 (GRCm39) |
R29L |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cyct |
A |
G |
2: 76,184,434 (GRCm39) |
*106R |
probably null |
Het |
| Enam |
A |
G |
5: 88,650,668 (GRCm39) |
I726V |
probably benign |
Het |
| Epha3 |
T |
G |
16: 63,405,383 (GRCm39) |
|
probably null |
Het |
| Erbb4 |
T |
C |
1: 68,329,453 (GRCm39) |
D632G |
probably benign |
Het |
| Fam217a |
T |
C |
13: 35,095,384 (GRCm39) |
N125S |
possibly damaging |
Het |
| Fbxo32 |
A |
T |
15: 58,044,860 (GRCm39) |
|
probably benign |
Het |
| Foxa1 |
T |
C |
12: 57,589,486 (GRCm39) |
T245A |
probably damaging |
Het |
| Gars1 |
T |
C |
6: 55,042,452 (GRCm39) |
V395A |
probably benign |
Het |
| Itgav |
A |
G |
2: 83,600,397 (GRCm39) |
M266V |
probably damaging |
Het |
| Klhl14 |
G |
A |
18: 21,785,238 (GRCm39) |
S63F |
probably damaging |
Het |
| Lpp |
G |
A |
16: 24,580,361 (GRCm39) |
A26T |
probably damaging |
Het |
| Lrrc17 |
T |
C |
5: 21,765,994 (GRCm39) |
Y159H |
probably damaging |
Het |
| Lzts1 |
A |
T |
8: 69,591,450 (GRCm39) |
S233T |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,676,860 (GRCm39) |
|
probably benign |
Het |
| Nrf1 |
A |
T |
6: 30,118,990 (GRCm39) |
I382F |
possibly damaging |
Het |
| Or11i1 |
A |
T |
3: 106,729,362 (GRCm39) |
F171Y |
probably damaging |
Het |
| Or1m1 |
G |
T |
9: 18,666,000 (GRCm39) |
S310R |
probably benign |
Het |
| Or4k41 |
A |
G |
2: 111,280,354 (GRCm39) |
R290G |
probably damaging |
Het |
| Pde9a |
T |
A |
17: 31,639,259 (GRCm39) |
V63D |
possibly damaging |
Het |
| Plcg1 |
T |
A |
2: 160,595,427 (GRCm39) |
N484K |
probably damaging |
Het |
| Plekhg4 |
T |
A |
8: 106,105,691 (GRCm39) |
|
probably null |
Het |
| Pot1b |
A |
G |
17: 56,002,092 (GRCm39) |
Y161H |
possibly damaging |
Het |
| Ptchd4 |
G |
A |
17: 42,627,865 (GRCm39) |
G109S |
possibly damaging |
Het |
| Rad51ap1 |
T |
C |
6: 126,904,527 (GRCm39) |
N119S |
probably benign |
Het |
| Rbm22 |
C |
T |
18: 60,705,028 (GRCm39) |
|
probably benign |
Het |
| Stk36 |
T |
A |
1: 74,661,414 (GRCm39) |
S480R |
probably benign |
Het |
| Ugt2b5 |
A |
T |
5: 87,275,535 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Gimap5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00899:Gimap5
|
APN |
6 |
48,730,107 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL01936:Gimap5
|
APN |
6 |
48,729,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01995:Gimap5
|
APN |
6 |
48,729,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02974:Gimap5
|
APN |
6 |
48,730,311 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
sphinx
|
UTSW |
6 |
48,729,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0321:Gimap5
|
UTSW |
6 |
48,727,449 (GRCm39) |
splice site |
probably benign |
|
|
R1480:Gimap5
|
UTSW |
6 |
48,729,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1655:Gimap5
|
UTSW |
6 |
48,730,110 (GRCm39) |
nonsense |
probably null |
|
|
R1761:Gimap5
|
UTSW |
6 |
48,730,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7449:Gimap5
|
UTSW |
6 |
48,729,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8519:Gimap5
|
UTSW |
6 |
48,730,068 (GRCm39) |
missense |
probably benign |
|
|
R8525:Gimap5
|
UTSW |
6 |
48,729,501 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1177:Gimap5
|
UTSW |
6 |
48,729,819 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Posted On |
2015-04-16 |
Incidental Mutation