Incidental Mutation 'IGL02933:Git1'
ID364193
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Git1
Ensembl Gene ENSMUSG00000011877
Gene NameG protein-coupled receptor kinase-interactor 1
Synonymsp95Cat, Cat-1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02933
Quality Score
Status
Chromosome11
Chromosomal Location77493562-77507786 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 77501076 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 241 (H241Q)
Ref Sequence ENSEMBL: ENSMUSP00000098375 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037285] [ENSMUST00000100812]
Predicted Effect probably damaging
Transcript: ENSMUST00000037285
AA Change: H241Q

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000037210
Gene: ENSMUSG00000011877
AA Change: H241Q

DomainStartEndE-ValueType
ArfGap 1 124 1.82e-45 SMART
ANK 132 161 2.55e2 SMART
ANK 166 195 2.47e0 SMART
ANK 199 228 4.6e0 SMART
GIT 273 303 1.01e-10 SMART
GIT 337 367 1.99e-9 SMART
Pfam:GIT_CC 418 483 8.6e-34 PFAM
Pfam:GIT1_C 647 763 3.2e-50 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000100812
AA Change: H241Q

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000098375
Gene: ENSMUSG00000011877
AA Change: H241Q

DomainStartEndE-ValueType
ArfGap 1 124 1.82e-45 SMART
ANK 132 161 2.55e2 SMART
ANK 166 195 2.47e0 SMART
ANK 199 228 4.6e0 SMART
GIT 264 294 1.01e-10 SMART
GIT 328 358 1.99e-9 SMART
PDB:2W6A|B 417 473 3e-28 PDB
low complexity region 474 484 N/A INTRINSIC
Pfam:GIT1_C 632 756 4.9e-65 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127302
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128796
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139410
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152428
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal lethality associated with abnormal lung vascular development with surviving mice exhibiting abnormal learning and anxiety related behavior. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700008O03Rik G T 7: 44,363,012 S24Y possibly damaging Het
Adam15 T C 3: 89,343,483 T609A possibly damaging Het
Ank1 C T 8: 23,122,865 T1485I possibly damaging Het
Bbof1 A G 12: 84,426,966 N357D probably damaging Het
Btn1a1 A G 13: 23,460,527 F267S possibly damaging Het
C2cd2 A T 16: 97,892,201 F157I probably benign Het
Cd55 T C 1: 130,452,524 E239G probably damaging Het
Cnpy1 T A 5: 28,207,121 H138L probably benign Het
Cpne4 T C 9: 105,019,767 V373A possibly damaging Het
Dlg5 A T 14: 24,158,499 S880T probably benign Het
Etv1 C T 12: 38,781,833 T27I probably benign Het
Fam227b T A 2: 126,123,988 probably null Het
Flcn T C 11: 59,803,757 S130G probably damaging Het
Flvcr2 T C 12: 85,803,128 probably benign Het
Gm14496 T A 2: 182,000,463 H642Q probably benign Het
Idh1 C T 1: 65,161,913 S293N probably damaging Het
Itpr2 A G 6: 146,312,904 S1449P probably benign Het
Mmel1 T A 4: 154,883,630 L141Q probably damaging Het
Morn4 A G 19: 42,076,222 I109T probably benign Het
Mrgprh T C 17: 12,877,709 Y279H probably damaging Het
Olfr356 T A 2: 36,937,298 Y60N probably damaging Het
Osbpl8 T C 10: 111,282,130 I578T probably damaging Het
Reg2 A G 6: 78,407,934 Y153C probably damaging Het
Sall2 T C 14: 52,313,027 S902G probably benign Het
Sesn3 C T 9: 14,321,208 T259M probably damaging Het
Traf1 C A 2: 34,949,095 D73Y possibly damaging Het
Trnt1 G A 6: 106,773,426 G97D probably benign Het
Ttll11 T C 2: 35,979,410 H72R probably benign Het
Txndc12 T C 4: 108,857,996 probably null Het
Zan C A 5: 137,428,414 S2490I unknown Het
Zfp955a T C 17: 33,243,709 probably null Het
Zfyve26 A C 12: 79,280,080 S756R possibly damaging Het
Zmynd8 T C 2: 165,828,318 N412S possibly damaging Het
Other mutations in Git1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00092:Git1 APN 11 77505957 missense probably benign
IGL00401:Git1 APN 11 77498956 splice site probably benign
IGL02143:Git1 APN 11 77505987 missense possibly damaging 0.94
IGL02451:Git1 APN 11 77500687 missense possibly damaging 0.66
IGL02474:Git1 APN 11 77503391 missense probably damaging 1.00
IGL02517:Git1 APN 11 77499587 missense probably benign 0.03
R0148:Git1 UTSW 11 77505728 missense probably benign 0.28
R0195:Git1 UTSW 11 77501073 missense probably benign 0.07
R0762:Git1 UTSW 11 77499834 missense possibly damaging 0.80
R1439:Git1 UTSW 11 77506418 missense possibly damaging 0.89
R1739:Git1 UTSW 11 77498982 missense probably damaging 1.00
R4471:Git1 UTSW 11 77499824 missense probably benign 0.26
R4482:Git1 UTSW 11 77500507 missense possibly damaging 0.89
R4653:Git1 UTSW 11 77505043 missense possibly damaging 0.94
R4783:Git1 UTSW 11 77499837 missense probably damaging 1.00
R5014:Git1 UTSW 11 77498995 missense probably damaging 1.00
R5703:Git1 UTSW 11 77504668 frame shift probably null
R5984:Git1 UTSW 11 77506483 missense possibly damaging 0.76
R6962:Git1 UTSW 11 77504643 missense probably benign 0.31
R6972:Git1 UTSW 11 77499521 missense probably damaging 1.00
R7012:Git1 UTSW 11 77499780 missense probably damaging 1.00
X0028:Git1 UTSW 11 77499046 missense probably damaging 0.99
Posted On2015-12-18