Incidental Mutation 'IGL02679:Gimap4'
| ID |
303307 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gimap4
|
| Ensembl Gene |
ENSMUSG00000054435 |
| Gene Name |
GTPase, IMAP family member 4 |
| Synonyms |
Ian1, E430007K16Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
IGL02679
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
48661483-48668994 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 48667429 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 61
(C61*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122070
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067506]
[ENSMUST00000090070]
[ENSMUST00000118802]
[ENSMUST00000119575]
[ENSMUST00000121957]
[ENSMUST00000156770]
|
| AlphaFold |
Q99JY3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000067506
AA Change: C61*
|
| SMART Domains |
Protein: ENSMUSP00000068398
Gene: ENSMUSG00000054435
AA Change: C61*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AIG1
|
31 |
218 |
4.2e-72 |
PFAM |
|
Pfam:MMR_HSR1
|
32 |
186 |
2.6e-10 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000090070
AA Change: C61*
|
| SMART Domains |
Protein: ENSMUSP00000087524
Gene: ENSMUSG00000054435
AA Change: C61*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AIG1
|
31 |
242 |
1.5e-80 |
PFAM |
|
Pfam:MMR_HSR1
|
32 |
170 |
1.6e-10 |
PFAM |
|
low complexity region
|
265 |
282 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118802
|
| SMART Domains |
Protein: ENSMUSP00000112530
Gene: ENSMUSG00000054435
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AIG1
|
31 |
53 |
1.6e-7 |
PFAM |
|
Pfam:AIG1
|
48 |
114 |
6.4e-17 |
PFAM |
|
low complexity region
|
137 |
154 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119575
|
| SMART Domains |
Protein: ENSMUSP00000113989
Gene: ENSMUSG00000054435
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1zin_1
|
31 |
50 |
2e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121957
|
| SMART Domains |
Protein: ENSMUSP00000113016
Gene: ENSMUSG00000054435
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AIG1
|
31 |
55 |
4.3e-8 |
PFAM |
|
Pfam:AIG1
|
48 |
89 |
1.5e-10 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000156770
AA Change: C61*
|
| SMART Domains |
Protein: ENSMUSP00000122070
Gene: ENSMUSG00000054435
AA Change: C61*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AIG1
|
31 |
69 |
6.7e-17 |
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. This gene exists within a cluster of other related genes located on mouse chromosome 6. This family member encodes a lymphoid signaling protein that functions to accelerate programmed T-cell death, which appears to correlate with the phosphorylation status of the protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a knock-out allele show no detectable alterations in T-cell development, selection and activation; however, mutant T cells exhibit a delay in the execution of programmed cell death induced by intrinsic stimuli downstream of caspase-3 activation and phosphatidylserine exposure. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930442H23Rik |
T |
A |
10: 81,018,813 (GRCm39) |
|
probably benign |
Het |
| Adam5 |
A |
T |
8: 25,296,542 (GRCm39) |
Y302N |
probably damaging |
Het |
| Ankrd34c |
A |
T |
9: 89,612,132 (GRCm39) |
Y70N |
probably damaging |
Het |
| Asph |
G |
A |
4: 9,601,349 (GRCm39) |
P190S |
possibly damaging |
Het |
| Atp6v1h |
T |
C |
1: 5,194,525 (GRCm39) |
C235R |
probably damaging |
Het |
| Brwd1 |
A |
G |
16: 95,804,023 (GRCm39) |
L2049P |
probably benign |
Het |
| Capn2 |
T |
A |
1: 182,300,149 (GRCm39) |
I614F |
probably benign |
Het |
| Ccdc126 |
T |
A |
6: 49,310,995 (GRCm39) |
M1K |
probably null |
Het |
| Cdh9 |
T |
C |
15: 16,832,316 (GRCm39) |
I401T |
probably damaging |
Het |
| Cep57l1 |
T |
C |
10: 41,605,382 (GRCm39) |
E121G |
probably damaging |
Het |
| Cfap46 |
A |
G |
7: 139,194,386 (GRCm39) |
I2276T |
probably damaging |
Het |
| Cnnm3 |
T |
C |
1: 36,559,239 (GRCm39) |
S490P |
probably benign |
Het |
| D430041D05Rik |
C |
T |
2: 104,060,650 (GRCm39) |
V731I |
possibly damaging |
Het |
| Dynlt2b |
T |
C |
16: 32,244,125 (GRCm39) |
V107A |
possibly damaging |
Het |
| Fgf3 |
C |
A |
7: 144,394,487 (GRCm39) |
N100K |
probably damaging |
Het |
| Gas7 |
G |
A |
11: 67,566,553 (GRCm39) |
|
probably null |
Het |
| Gfm1 |
C |
T |
3: 67,382,100 (GRCm39) |
P725S |
possibly damaging |
Het |
| Greb1 |
C |
T |
12: 16,758,724 (GRCm39) |
R664Q |
probably damaging |
Het |
| Kpnb1 |
T |
A |
11: 97,068,086 (GRCm39) |
I295F |
possibly damaging |
Het |
| Lamc3 |
A |
G |
2: 31,835,410 (GRCm39) |
E1577G |
probably benign |
Het |
| Lrrk1 |
C |
T |
7: 65,924,620 (GRCm39) |
V235M |
probably damaging |
Het |
| Meak7 |
A |
T |
8: 120,499,149 (GRCm39) |
D114E |
probably benign |
Het |
| Mipol1 |
T |
A |
12: 57,352,829 (GRCm39) |
V56E |
possibly damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,442,621 (GRCm39) |
I1927V |
probably benign |
Het |
| Ncaph |
A |
T |
2: 126,966,784 (GRCm39) |
N223K |
possibly damaging |
Het |
| Nipbl |
A |
G |
15: 8,325,037 (GRCm39) |
M2542T |
probably benign |
Het |
| Nolc1 |
C |
A |
19: 46,071,468 (GRCm39) |
|
probably benign |
Het |
| Or10j5 |
G |
A |
1: 172,784,743 (GRCm39) |
C127Y |
probably damaging |
Het |
| Or51h1 |
A |
G |
7: 102,308,384 (GRCm39) |
M119V |
possibly damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,393,441 (GRCm39) |
|
probably null |
Het |
| Ppat |
A |
T |
5: 77,067,316 (GRCm39) |
C306S |
probably benign |
Het |
| Ptpn13 |
A |
T |
5: 103,717,320 (GRCm39) |
M1821L |
possibly damaging |
Het |
| Rabl3 |
C |
T |
16: 37,362,287 (GRCm39) |
S42L |
probably damaging |
Het |
| Rbm12 |
C |
T |
2: 155,937,480 (GRCm39) |
|
probably benign |
Het |
| Rfx3 |
G |
A |
19: 27,827,137 (GRCm39) |
H150Y |
possibly damaging |
Het |
| Rngtt |
A |
G |
4: 33,356,098 (GRCm39) |
M312V |
possibly damaging |
Het |
| Slc10a2 |
T |
A |
8: 5,148,499 (GRCm39) |
T149S |
probably damaging |
Het |
| Spata21 |
T |
C |
4: 140,838,576 (GRCm39) |
|
probably benign |
Het |
| Stx8 |
G |
T |
11: 67,860,598 (GRCm39) |
W6C |
probably damaging |
Het |
| Tcn2 |
T |
C |
11: 3,877,504 (GRCm39) |
E48G |
possibly damaging |
Het |
| Tecpr1 |
A |
T |
5: 144,143,364 (GRCm39) |
N670K |
probably benign |
Het |
| Tmem255b |
G |
A |
8: 13,507,055 (GRCm39) |
M240I |
probably benign |
Het |
| Ubr4 |
G |
A |
4: 139,186,445 (GRCm39) |
E651K |
probably damaging |
Het |
| Ubr5 |
T |
C |
15: 38,002,558 (GRCm39) |
T1498A |
probably benign |
Het |
| Vmn2r95 |
G |
A |
17: 18,664,116 (GRCm39) |
C445Y |
probably damaging |
Het |
| Zfp429 |
T |
A |
13: 67,547,855 (GRCm39) |
|
probably benign |
Het |
| Zfp804b |
T |
G |
5: 6,821,392 (GRCm39) |
D557A |
possibly damaging |
Het |
|
| Other mutations in Gimap4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00980:Gimap4
|
APN |
6 |
48,667,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01917:Gimap4
|
APN |
6 |
48,667,854 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02302:Gimap4
|
APN |
6 |
48,667,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1466:Gimap4
|
UTSW |
6 |
48,668,216 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1466:Gimap4
|
UTSW |
6 |
48,668,216 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1584:Gimap4
|
UTSW |
6 |
48,668,216 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2079:Gimap4
|
UTSW |
6 |
48,667,881 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R2118:Gimap4
|
UTSW |
6 |
48,667,905 (GRCm39) |
missense |
probably benign |
0.24 |
|
R2566:Gimap4
|
UTSW |
6 |
48,667,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4279:Gimap4
|
UTSW |
6 |
48,667,511 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5592:Gimap4
|
UTSW |
6 |
48,668,092 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5597:Gimap4
|
UTSW |
6 |
48,667,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6162:Gimap4
|
UTSW |
6 |
48,667,655 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6354:Gimap4
|
UTSW |
6 |
48,663,814 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6658:Gimap4
|
UTSW |
6 |
48,668,338 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8028:Gimap4
|
UTSW |
6 |
48,667,684 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8349:Gimap4
|
UTSW |
6 |
48,667,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8449:Gimap4
|
UTSW |
6 |
48,667,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8993:Gimap4
|
UTSW |
6 |
48,667,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9112:Gimap4
|
UTSW |
6 |
48,667,629 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9366:Gimap4
|
UTSW |
6 |
48,668,037 (GRCm39) |
missense |
probably benign |
|
|
R9367:Gimap4
|
UTSW |
6 |
48,667,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9477:Gimap4
|
UTSW |
6 |
48,667,314 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0050:Gimap4
|
UTSW |
6 |
48,667,734 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Posted On |
2015-04-16 |
Incidental Mutation