Incidental Mutation 'IGL02302:Gimap4'
ID287428
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gimap4
Ensembl Gene ENSMUSG00000054435
Gene NameGTPase, IMAP family member 4
SynonymsIan1, E430007K16Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.057) question?
Stock #IGL02302
Quality Score
Status
Chromosome6
Chromosomal Location48684549-48692060 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 48690413 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glycine at position 34 (V34G)
Ref Sequence ENSEMBL: ENSMUSP00000122070 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067506] [ENSMUST00000090070] [ENSMUST00000118802] [ENSMUST00000119575] [ENSMUST00000121957] [ENSMUST00000156770]
Predicted Effect probably damaging
Transcript: ENSMUST00000067506
AA Change: V34G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000068398
Gene: ENSMUSG00000054435
AA Change: V34G

DomainStartEndE-ValueType
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: V34G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000087524
Gene: ENSMUSG00000054435
AA Change: V34G

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000118802
AA Change: V34G

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000112530
Gene: ENSMUSG00000054435
AA Change: V34G

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000119575
AA Change: V34G

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113989
Gene: ENSMUSG00000054435
AA Change: V34G

DomainStartEndE-ValueType
SCOP:d1zin_1 31 50 2e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000121957
AA Change: V34G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113016
Gene: ENSMUSG00000054435
AA Change: V34G

DomainStartEndE-ValueType
Pfam:AIG1 31 55 4.3e-8 PFAM
Pfam:AIG1 48 89 1.5e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000156770
AA Change: V34G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122070
Gene: ENSMUSG00000054435
AA Change: V34G

DomainStartEndE-ValueType
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700066M21Rik A T 1: 57,383,098 Q211L possibly damaging Het
2210016F16Rik G A 13: 58,381,935 R288W probably damaging Het
Abca14 T A 7: 120,318,745 probably benign Het
Abcb10 A T 8: 123,958,672 V543D possibly damaging Het
Ankrd17 G A 5: 90,283,198 T909I probably benign Het
Arhgef3 A G 14: 27,362,842 N76S probably benign Het
Bbx A T 16: 50,224,915 C320S probably damaging Het
Cdh23 C A 10: 60,323,523 V2159F possibly damaging Het
Cmtr2 G A 8: 110,221,504 A149T probably damaging Het
Cntnap4 A G 8: 112,785,903 probably benign Het
Col6a3 A T 1: 90,781,760 F1905I unknown Het
Ddx60 A G 8: 61,975,832 Y792C possibly damaging Het
Dock4 T C 12: 40,725,777 L573P probably damaging Het
Dopey2 A G 16: 93,810,117 I2103V probably benign Het
Ear1 T G 14: 43,819,047 Q121H probably benign Het
Eprs T A 1: 185,387,124 probably benign Het
Ero1l T C 14: 45,293,162 K271R probably benign Het
Esyt1 A G 10: 128,512,367 L884P probably damaging Het
F2r T C 13: 95,604,652 N125S probably damaging Het
Fam129b A G 2: 32,921,123 I382V probably benign Het
Fam217a T C 13: 34,911,161 E357G probably damaging Het
Gabbr1 C T 17: 37,054,797 R123W probably damaging Het
Gatsl2 G A 5: 134,135,643 V148I possibly damaging Het
Gm3248 A T 14: 5,943,011 V180E probably benign Het
Hecw2 A T 1: 53,933,248 N204K probably damaging Het
Ighv1-84 T A 12: 115,980,929 K42* probably null Het
Kcnh7 T A 2: 62,706,058 Q1060L probably damaging Het
Kif3b T A 2: 153,316,948 I223N probably damaging Het
Lama2 G A 10: 27,212,043 P913S probably benign Het
Lgr4 A G 2: 110,002,496 I334M probably damaging Het
Lrrc45 G T 11: 120,718,525 E403D possibly damaging Het
Mccc2 A G 13: 99,954,239 L462P probably damaging Het
Mfsd13b T C 7: 120,998,909 V346A probably damaging Het
Muc6 T C 7: 141,641,496 T1342A possibly damaging Het
Mxd3 T C 13: 55,329,278 N56S probably benign Het
Ntn5 G T 7: 45,694,248 R337L probably damaging Het
Nynrin A G 14: 55,868,505 K894E probably benign Het
Olfr1305 A C 2: 111,873,542 S104R possibly damaging Het
Olfr350 G T 2: 36,850,703 G219V probably benign Het
Olfr447 T A 6: 42,912,338 Y272N probably damaging Het
Olfr859 A T 9: 19,808,685 R122S probably damaging Het
Pappa2 T C 1: 158,715,001 D1772G probably benign Het
Pcdh18 G T 3: 49,755,938 F309L probably benign Het
Pcdhac2 G T 18: 37,145,953 R662L probably damaging Het
Ppp5c G A 7: 17,008,630 S261L possibly damaging Het
Rc3h1 T C 1: 160,938,105 probably benign Het
Rfx8 A C 1: 39,665,522 S578A possibly damaging Het
Rhbdl3 T G 11: 80,353,681 *405E probably null Het
Rita1 C T 5: 120,609,793 A147T probably damaging Het
Rnf139 G T 15: 58,898,757 L210F probably damaging Het
Rragc A G 4: 123,921,086 R192G possibly damaging Het
Ryr3 A T 2: 112,964,356 V137E probably damaging Het
S100pbp A T 4: 129,182,441 D30E probably damaging Het
Smchd1 A T 17: 71,358,133 probably benign Het
Sppl3 T A 5: 115,082,331 C101S probably benign Het
St5 A G 7: 109,525,331 V1101A probably damaging Het
St8sia6 T C 2: 13,723,513 T74A probably benign Het
Sult3a1 A G 10: 33,866,575 N66S possibly damaging Het
Sv2b T A 7: 75,124,199 K508M probably damaging Het
Terf1 T C 1: 15,833,402 S275P probably damaging Het
Tmed8 G T 12: 87,174,216 H199N probably damaging Het
Tubg2 A T 11: 101,156,145 Q9L probably damaging Het
Ubxn4 C T 1: 128,256,111 probably benign Het
Usp34 C T 11: 23,467,243 T2964I possibly damaging Het
Zfp213 A G 17: 23,557,971 S366P possibly damaging Het
Other mutations in Gimap4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00980:Gimap4 APN 6 48690938 missense probably damaging 1.00
IGL01917:Gimap4 APN 6 48690920 missense probably benign 0.02
IGL02679:Gimap4 APN 6 48690495 nonsense probably null
R1466:Gimap4 UTSW 6 48691282 missense probably benign 0.17
R1466:Gimap4 UTSW 6 48691282 missense probably benign 0.17
R1584:Gimap4 UTSW 6 48691282 missense probably benign 0.17
R2079:Gimap4 UTSW 6 48690947 missense possibly damaging 0.46
R2118:Gimap4 UTSW 6 48690971 missense probably benign 0.24
R2566:Gimap4 UTSW 6 48690865 missense probably damaging 1.00
R4279:Gimap4 UTSW 6 48690577 missense probably benign 0.22
R5592:Gimap4 UTSW 6 48691158 missense probably damaging 0.99
R5597:Gimap4 UTSW 6 48690764 missense probably damaging 1.00
R6162:Gimap4 UTSW 6 48690721 missense probably damaging 0.97
R6354:Gimap4 UTSW 6 48686880 missense possibly damaging 0.53
R6658:Gimap4 UTSW 6 48691404 missense possibly damaging 0.65
X0050:Gimap4 UTSW 6 48690800 missense possibly damaging 0.91
Posted On2015-04-16