Incidental Mutation 'IGL00401:Git1'
ID 4538
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Git1
Ensembl Gene ENSMUSG00000011877
Gene Name GIT ArfGAP 1
Synonyms p95Cat, Cat-1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00401
Quality Score
Status
Chromosome 11
Chromosomal Location 77384388-77398612 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 77389782 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000098375 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037285] [ENSMUST00000100812]
AlphaFold Q68FF6
Predicted Effect probably benign
Transcript: ENSMUST00000037285
SMART Domains Protein: ENSMUSP00000037210
Gene: ENSMUSG00000011877

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 benign
Transcript: ENSMUST00000100812
SMART Domains Protein: ENSMUSP00000098375
Gene: ENSMUSG00000011877

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: 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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alk T A 17: 72,202,743 (GRCm39) D1164V probably damaging Het
Baiap3 T G 17: 25,463,302 (GRCm39) L964F probably damaging Het
Cacna2d2 T A 9: 107,392,072 (GRCm39) V471E probably damaging Het
Carmil3 C T 14: 55,735,755 (GRCm39) T569M probably damaging Het
Dapk2 G T 9: 66,176,060 (GRCm39) probably benign Het
Eps15l1 A T 8: 73,138,682 (GRCm39) Y291* probably null Het
Fancd2 T C 6: 113,541,357 (GRCm39) probably null Het
Fmnl2 T G 2: 53,004,929 (GRCm39) D674E probably damaging Het
Foxq1 A T 13: 31,743,260 (GRCm39) I121F probably damaging Het
Galnt13 C T 2: 54,406,547 (GRCm39) probably benign Het
Gm10220 A T 5: 26,323,609 (GRCm39) F146Y possibly damaging Het
Gm7353 A G 7: 3,160,630 (GRCm39) noncoding transcript Het
Hspa9 G A 18: 35,071,633 (GRCm39) probably benign Het
Kptn A G 7: 15,854,050 (GRCm39) D56G possibly damaging Het
Krtap4-13 A T 11: 99,700,543 (GRCm39) C39S unknown Het
Lgsn A G 1: 31,242,647 (GRCm39) K243R possibly damaging Het
Lyz2 C T 10: 117,118,090 (GRCm39) V20I probably benign Het
Mettl3 T A 14: 52,534,424 (GRCm39) probably benign Het
Myh6 T A 14: 55,190,874 (GRCm39) M934L probably benign Het
Nmnat2 A G 1: 152,969,863 (GRCm39) probably null Het
Pias2 T A 18: 77,220,907 (GRCm39) C381S probably damaging Het
Psme4 T C 11: 30,771,079 (GRCm39) probably benign Het
Smc4 T A 3: 68,937,712 (GRCm39) D887E probably damaging Het
Sorcs2 C A 5: 36,194,745 (GRCm39) probably null Het
Tet2 T C 3: 133,172,643 (GRCm39) E1873G possibly damaging Het
Txlng T A X: 161,565,305 (GRCm39) K341* probably null Het
Ugt2b37 T A 5: 87,390,340 (GRCm39) T369S possibly damaging Het
Usp46 C A 5: 74,163,832 (GRCm39) V302F probably damaging Het
Zfp292 A G 4: 34,808,683 (GRCm39) C1454R probably benign Het
Other mutations in Git1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00092:Git1 APN 11 77,396,783 (GRCm39) missense probably benign
IGL02143:Git1 APN 11 77,396,813 (GRCm39) missense possibly damaging 0.94
IGL02451:Git1 APN 11 77,391,513 (GRCm39) missense possibly damaging 0.66
IGL02474:Git1 APN 11 77,394,217 (GRCm39) missense probably damaging 1.00
IGL02517:Git1 APN 11 77,390,413 (GRCm39) missense probably benign 0.03
IGL02933:Git1 APN 11 77,391,902 (GRCm39) missense probably damaging 0.98
R0148:Git1 UTSW 11 77,396,554 (GRCm39) missense probably benign 0.28
R0195:Git1 UTSW 11 77,391,899 (GRCm39) missense probably benign 0.07
R0762:Git1 UTSW 11 77,390,660 (GRCm39) missense possibly damaging 0.80
R1439:Git1 UTSW 11 77,397,244 (GRCm39) missense possibly damaging 0.89
R1739:Git1 UTSW 11 77,389,808 (GRCm39) missense probably damaging 1.00
R4471:Git1 UTSW 11 77,390,650 (GRCm39) missense probably benign 0.26
R4482:Git1 UTSW 11 77,391,333 (GRCm39) missense possibly damaging 0.89
R4653:Git1 UTSW 11 77,395,869 (GRCm39) missense possibly damaging 0.94
R4783:Git1 UTSW 11 77,390,663 (GRCm39) missense probably damaging 1.00
R5014:Git1 UTSW 11 77,389,821 (GRCm39) missense probably damaging 1.00
R5703:Git1 UTSW 11 77,395,494 (GRCm39) frame shift probably null
R5984:Git1 UTSW 11 77,397,309 (GRCm39) missense possibly damaging 0.76
R6962:Git1 UTSW 11 77,395,469 (GRCm39) missense probably benign 0.31
R6972:Git1 UTSW 11 77,390,347 (GRCm39) missense probably damaging 1.00
R7012:Git1 UTSW 11 77,390,606 (GRCm39) missense probably damaging 1.00
R8204:Git1 UTSW 11 77,396,161 (GRCm39) missense probably benign 0.23
R9072:Git1 UTSW 11 77,389,901 (GRCm39) missense probably benign 0.03
R9073:Git1 UTSW 11 77,389,901 (GRCm39) missense probably benign 0.03
R9124:Git1 UTSW 11 77,395,498 (GRCm39) missense possibly damaging 0.69
R9126:Git1 UTSW 11 77,390,380 (GRCm39) missense probably damaging 1.00
R9162:Git1 UTSW 11 77,396,331 (GRCm39) missense probably benign 0.31
R9658:Git1 UTSW 11 77,390,581 (GRCm39) missense probably damaging 1.00
X0028:Git1 UTSW 11 77,389,872 (GRCm39) missense probably damaging 0.99
Posted On 2012-04-20