Incidental Mutation 'IGL01917:Gimap4'
| ID |
179993 |
| 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: 0.052)
|
| Stock # |
IGL01917
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
48661483-48668994 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 48667854 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 75
(M75T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112530
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067506]
[ENSMUST00000090070]
[ENSMUST00000118802]
[ENSMUST00000119575]
[ENSMUST00000121957]
[ENSMUST00000156770]
|
| AlphaFold |
Q99JY3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067506
AA Change: M203T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000068398
Gene: ENSMUSG00000054435
AA Change: M203T
| 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 benign
Transcript: ENSMUST00000090070
AA Change: M203T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000087524
Gene: ENSMUSG00000054435
AA Change: M203T
| 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
AA Change: M75T
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000112530
Gene: ENSMUSG00000054435
AA Change: M75T
| 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 |
unknown
Transcript: ENSMUST00000121957
AA Change: M75T
|
| SMART Domains |
Protein: ENSMUSP00000113016
Gene: ENSMUSG00000054435
AA Change: M75T
| 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 benign
Transcript: ENSMUST00000156770
|
| SMART Domains |
Protein: ENSMUSP00000122070
Gene: ENSMUSG00000054435
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abt1 |
A |
T |
13: 23,607,959 (GRCm39) |
M15K |
unknown |
Het |
| Adal |
A |
G |
2: 120,973,035 (GRCm39) |
S31G |
possibly damaging |
Het |
| C2cd5 |
T |
C |
6: 143,018,322 (GRCm39) |
Y300C |
probably benign |
Het |
| Chia1 |
T |
A |
3: 106,035,536 (GRCm39) |
V184E |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 38,943,879 (GRCm39) |
V924D |
possibly damaging |
Het |
| Fstl5 |
A |
T |
3: 76,615,153 (GRCm39) |
H738L |
probably damaging |
Het |
| Gm10238 |
A |
T |
15: 75,109,561 (GRCm39) |
|
noncoding transcript |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gm5862 |
A |
C |
5: 26,227,769 (GRCm39) |
W41G |
probably benign |
Het |
| Gsdmc |
A |
G |
15: 63,650,434 (GRCm39) |
Y307H |
probably benign |
Het |
| Iqub |
A |
G |
6: 24,479,318 (GRCm39) |
L408P |
probably damaging |
Het |
| Lbx1 |
T |
A |
19: 45,222,652 (GRCm39) |
K124* |
probably null |
Het |
| Naip2 |
C |
A |
13: 100,298,591 (GRCm39) |
V482L |
probably benign |
Het |
| Or52e19 |
T |
A |
7: 102,959,564 (GRCm39) |
L212* |
probably null |
Het |
| Pdcd11 |
C |
A |
19: 47,089,604 (GRCm39) |
Q325K |
possibly damaging |
Het |
| Pik3c3 |
T |
A |
18: 30,407,499 (GRCm39) |
S82R |
probably damaging |
Het |
| Pramel11 |
T |
A |
4: 143,624,284 (GRCm39) |
E71V |
probably benign |
Het |
| Prickle1 |
T |
C |
15: 93,401,408 (GRCm39) |
K359E |
probably damaging |
Het |
| Ptprj |
A |
G |
2: 90,300,093 (GRCm39) |
V236A |
probably damaging |
Het |
| Serpinb3d |
T |
A |
1: 107,007,411 (GRCm39) |
T192S |
probably damaging |
Het |
| Usp31 |
T |
C |
7: 121,278,708 (GRCm39) |
N219S |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
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 |
|
IGL02302:Gimap4
|
APN |
6 |
48,667,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02679:Gimap4
|
APN |
6 |
48,667,429 (GRCm39) |
nonsense |
probably null |
|
|
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 |
2014-05-07 |
Incidental Mutation