Incidental Mutation 'R4279:Gimap4'
| ID |
322795 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gimap4
|
| Ensembl Gene |
ENSMUSG00000054435 |
| Gene Name |
GTPase, IMAP family member 4 |
| Synonyms |
Ian1, E430007K16Rik |
| MMRRC Submission |
041079-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R4279 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
48661483-48668994 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 48667511 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 89
(I89V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087524
(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: I89V
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000068398
Gene: ENSMUSG00000054435
AA Change: I89V
| 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: I89V
PolyPhen 2
Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000087524
Gene: ENSMUSG00000054435
AA Change: I89V
| 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 benign
Transcript: ENSMUST00000156770
|
| SMART Domains |
Protein: ENSMUSP00000122070
Gene: ENSMUSG00000054435
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AIG1
|
31 |
69 |
6.7e-17 |
PFAM |
|
| Meta Mutation Damage Score |
0.0831 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
98% (40/41) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid2 |
T |
A |
15: 96,269,637 (GRCm39) |
L1250Q |
probably damaging |
Het |
| Ccdc73 |
A |
T |
2: 104,815,355 (GRCm39) |
N364Y |
possibly damaging |
Het |
| Ccl25 |
T |
A |
8: 4,399,829 (GRCm39) |
L56Q |
probably damaging |
Het |
| Ctnnd2 |
C |
A |
15: 30,905,966 (GRCm39) |
A871E |
probably damaging |
Het |
| Cyp2b23 |
C |
T |
7: 26,365,452 (GRCm39) |
S461N |
possibly damaging |
Het |
| Dgat2 |
C |
A |
7: 98,813,912 (GRCm39) |
G120V |
probably damaging |
Het |
| Dsp |
A |
T |
13: 38,369,207 (GRCm39) |
I768F |
probably damaging |
Het |
| Dzank1 |
T |
C |
2: 144,333,765 (GRCm39) |
E356G |
probably benign |
Het |
| Fam120a |
A |
T |
13: 49,042,734 (GRCm39) |
V889D |
probably benign |
Het |
| Fxyd5 |
C |
A |
7: 30,734,811 (GRCm39) |
D139Y |
probably null |
Het |
| Gcnt2 |
T |
C |
13: 41,041,666 (GRCm39) |
V275A |
probably benign |
Het |
| Gm6578 |
G |
A |
6: 12,100,187 (GRCm39) |
|
noncoding transcript |
Het |
| Jmjd8 |
A |
G |
17: 26,048,787 (GRCm39) |
|
probably benign |
Het |
| Jmy |
G |
C |
13: 93,635,390 (GRCm39) |
P142R |
probably damaging |
Het |
| Jmy |
C |
A |
13: 93,635,781 (GRCm39) |
D12Y |
probably damaging |
Het |
| Kif13b |
G |
T |
14: 65,016,805 (GRCm39) |
A1324S |
probably damaging |
Het |
| Klhl31 |
T |
C |
9: 77,563,121 (GRCm39) |
S629P |
unknown |
Het |
| Lpar1 |
A |
G |
4: 58,487,115 (GRCm39) |
V52A |
possibly damaging |
Het |
| Lrp5 |
A |
G |
19: 3,641,778 (GRCm39) |
S1395P |
possibly damaging |
Het |
| Mogs |
T |
C |
6: 83,093,048 (GRCm39) |
L132P |
probably damaging |
Het |
| Ncam1 |
C |
A |
9: 49,418,259 (GRCm39) |
|
probably benign |
Het |
| Ndufs8 |
A |
T |
19: 3,961,014 (GRCm39) |
F88I |
probably damaging |
Het |
| Nos2 |
T |
A |
11: 78,820,602 (GRCm39) |
L69Q |
probably benign |
Het |
| Or51a6 |
T |
A |
7: 102,604,292 (GRCm39) |
Q179L |
probably benign |
Het |
| Pls3 |
A |
T |
X: 74,846,138 (GRCm39) |
I192N |
probably benign |
Het |
| Psmd6 |
T |
C |
14: 14,112,297 (GRCm38) |
N388S |
possibly damaging |
Het |
| Rrbp1 |
T |
C |
2: 143,805,028 (GRCm39) |
T1046A |
probably benign |
Het |
| Scn11a |
T |
C |
9: 119,583,428 (GRCm39) |
E1729G |
probably benign |
Het |
| Slc6a3 |
A |
G |
13: 73,692,953 (GRCm39) |
D191G |
possibly damaging |
Het |
| Slc9a1 |
T |
C |
4: 133,139,400 (GRCm39) |
F206S |
probably benign |
Het |
| Tmc5 |
A |
G |
7: 118,273,886 (GRCm39) |
*968W |
probably null |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Unc13a |
T |
C |
8: 72,119,311 (GRCm39) |
K9R |
probably damaging |
Het |
| Vegfa |
A |
G |
17: 46,342,392 (GRCm39) |
V142A |
probably benign |
Het |
| Vmn1r119 |
T |
A |
7: 20,745,786 (GRCm39) |
M199L |
probably benign |
Het |
| Vnn1 |
A |
T |
10: 23,774,410 (GRCm39) |
D151V |
possibly damaging |
Het |
| Zfp365 |
A |
T |
10: 67,733,431 (GRCm39) |
F254I |
probably benign |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAATTCCCCAACTGAGAATTGTC -3'
(R):5'- CTAAGTCATCCTTCCTGGTGAGC -3'
Sequencing Primer
(F):5'- CCCAACTGAGAATTGTCTTACTTGG -3'
(R):5'- TCCTTCCTGGTGAGCAAGAGAATC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation