Incidental Mutation 'R5592:Gimap4'
| ID |
437569 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gimap4
|
| Ensembl Gene |
ENSMUSG00000054435 |
| Gene Name |
GTPase, IMAP family member 4 |
| Synonyms |
Ian1, E430007K16Rik |
| MMRRC Submission |
043144-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R5592 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
48661483-48668994 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 48668092 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 154
(E154D)
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000068398
Gene: ENSMUSG00000054435
| 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 damaging
Transcript: ENSMUST00000090070
AA Change: E282D
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000087524
Gene: ENSMUSG00000054435
AA Change: E282D
| 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 damaging
Transcript: ENSMUST00000118802
AA Change: E154D
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112530
Gene: ENSMUSG00000054435
AA Change: E154D
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 96.7%
|
| Validation Efficiency |
100% (48/48) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630001G21Rik |
A |
T |
1: 85,654,332 (GRCm39) |
F2I |
probably damaging |
Het |
| Adam17 |
C |
T |
12: 21,384,138 (GRCm39) |
S454N |
probably damaging |
Het |
| Adcy1 |
A |
T |
11: 7,089,088 (GRCm39) |
K501* |
probably null |
Het |
| Arhgap28 |
A |
T |
17: 68,165,267 (GRCm39) |
M543K |
probably damaging |
Het |
| Art3 |
T |
A |
5: 92,540,679 (GRCm39) |
Y141N |
probably damaging |
Het |
| Ccdc38 |
C |
T |
10: 93,386,064 (GRCm39) |
T60I |
possibly damaging |
Het |
| Crmp1 |
A |
C |
5: 37,422,609 (GRCm39) |
I139L |
probably benign |
Het |
| Cul9 |
G |
A |
17: 46,831,517 (GRCm39) |
L1566F |
probably benign |
Het |
| Cysltr2 |
T |
C |
14: 73,266,931 (GRCm39) |
K260E |
probably benign |
Het |
| Drd1 |
A |
T |
13: 54,208,190 (GRCm39) |
M1K |
probably null |
Het |
| Flii |
T |
G |
11: 60,611,225 (GRCm39) |
M449L |
probably benign |
Het |
| Galnt16 |
T |
C |
12: 80,635,293 (GRCm39) |
V343A |
probably damaging |
Het |
| Glmp |
T |
G |
3: 88,233,333 (GRCm39) |
|
probably benign |
Het |
| Glt1d1 |
A |
T |
5: 127,734,183 (GRCm39) |
D119V |
probably benign |
Het |
| Gm5930 |
C |
T |
14: 44,568,886 (GRCm39) |
M245I |
probably benign |
Het |
| Golgb1 |
T |
A |
16: 36,746,125 (GRCm39) |
H2901Q |
probably benign |
Het |
| Krt12 |
C |
T |
11: 99,311,650 (GRCm39) |
V184I |
probably benign |
Het |
| Lyst |
T |
G |
13: 13,917,918 (GRCm39) |
I3326S |
probably damaging |
Het |
| Mier3 |
T |
A |
13: 111,843,195 (GRCm39) |
Y182* |
probably null |
Het |
| Mlip |
G |
A |
9: 77,137,764 (GRCm39) |
S381L |
probably damaging |
Het |
| Mmp25 |
A |
G |
17: 23,859,176 (GRCm39) |
V157A |
possibly damaging |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Ms4a6c |
A |
G |
19: 11,458,496 (GRCm39) |
|
probably benign |
Het |
| Ms4a6c |
A |
G |
19: 11,457,641 (GRCm39) |
|
probably benign |
Het |
| Muc19 |
T |
C |
15: 91,828,199 (GRCm39) |
|
noncoding transcript |
Het |
| Mucl3 |
T |
C |
17: 35,954,535 (GRCm39) |
Y9C |
probably damaging |
Het |
| Mycbp2 |
C |
A |
14: 103,432,113 (GRCm39) |
M2308I |
probably benign |
Het |
| Myo1a |
G |
T |
10: 127,549,908 (GRCm39) |
V463F |
probably damaging |
Het |
| Ogdh |
A |
T |
11: 6,266,763 (GRCm39) |
|
probably null |
Het |
| Or52h9 |
A |
T |
7: 104,202,938 (GRCm39) |
N271Y |
probably benign |
Het |
| Or5l14 |
A |
G |
2: 87,792,684 (GRCm39) |
L184P |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Paip1 |
C |
A |
13: 119,587,334 (GRCm39) |
D124E |
probably damaging |
Het |
| Pdcd11 |
T |
A |
19: 47,091,164 (GRCm39) |
N379K |
probably benign |
Het |
| Pitpnm2 |
T |
C |
5: 124,280,212 (GRCm39) |
E112G |
probably damaging |
Het |
| Prrg4 |
T |
C |
2: 104,663,123 (GRCm39) |
Y161C |
probably benign |
Het |
| Rb1 |
A |
G |
14: 73,449,187 (GRCm39) |
Y648H |
probably damaging |
Het |
| Rpa3 |
A |
T |
6: 8,257,694 (GRCm39) |
M56K |
probably benign |
Het |
| Scarf1 |
A |
T |
11: 75,416,513 (GRCm39) |
T652S |
probably benign |
Het |
| Slc16a5 |
A |
G |
11: 115,363,608 (GRCm39) |
K423R |
probably benign |
Het |
| Sptan1 |
C |
T |
2: 29,876,731 (GRCm39) |
|
probably benign |
Het |
| Ssrp1 |
T |
C |
2: 84,875,863 (GRCm39) |
I574T |
probably benign |
Het |
| Synm |
A |
G |
7: 67,409,264 (GRCm39) |
L38P |
probably damaging |
Het |
| Ubqln4 |
T |
G |
3: 88,464,171 (GRCm39) |
M224R |
probably damaging |
Het |
| Uroc1 |
A |
G |
6: 90,332,326 (GRCm39) |
N561S |
probably damaging |
Het |
| Vav1 |
A |
G |
17: 57,611,835 (GRCm39) |
Y483C |
probably benign |
Het |
| Vps13a |
G |
A |
19: 16,702,935 (GRCm39) |
L673F |
probably damaging |
Het |
| Zfp418 |
G |
T |
7: 7,184,314 (GRCm39) |
K92N |
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 |
|
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 |
|
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'- AAGTGCCGAGTGTGTGATC -3'
(R):5'- TAGAGCATTTGGGCATCGG -3'
Sequencing Primer
(F):5'- TGTGTGATCCAGAAAGAGACCTTG -3'
(R):5'- GCACTATAGGGCAGGGTTATC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation