Incidental Mutation 'IGL02517:Git1'
ID 296841
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 # IGL02517
Quality Score
Status
Chromosome 11
Chromosomal Location 77384388-77398612 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 77390413 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 86 (V86A)
Ref Sequence ENSEMBL: ENSMUSP00000098375 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037285] [ENSMUST00000100812]
AlphaFold Q68FF6
Predicted Effect probably benign
Transcript: ENSMUST00000037285
AA Change: V86A

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000037210
Gene: ENSMUSG00000011877
AA Change: V86A

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
AA Change: V86A

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000098375
Gene: ENSMUSG00000011877
AA Change: V86A

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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acnat2 T G 4: 49,380,647 (GRCm39) M244L possibly damaging Het
Acnat2 A T 4: 49,380,639 (GRCm39) C228* probably null Het
Adam24 T C 8: 41,133,218 (GRCm39) S229P probably damaging Het
Alpk3 T C 7: 80,727,643 (GRCm39) S258P probably benign Het
Atad2b A G 12: 5,068,037 (GRCm39) T1012A probably benign Het
Bltp1 A G 3: 37,013,017 (GRCm39) E1899G probably damaging Het
C4b A T 17: 34,953,382 (GRCm39) S1034T probably benign Het
Cd300ld2 T A 11: 114,901,249 (GRCm39) H277L possibly damaging Het
Chrna4 C T 2: 180,670,926 (GRCm39) V277I probably benign Het
Col3a1 A G 1: 45,364,963 (GRCm39) probably null Het
Dpep2 C T 8: 106,715,388 (GRCm39) V369M probably damaging Het
Eml2 T A 7: 18,940,055 (GRCm39) N815K probably damaging Het
Enpp3 A G 10: 24,685,746 (GRCm39) probably benign Het
Hivep2 C T 10: 14,006,926 (GRCm39) P1175S probably benign Het
Hydin T C 8: 111,293,604 (GRCm39) I3517T probably benign Het
Ift172 T A 5: 31,410,992 (GRCm39) probably null Het
Jmy A G 13: 93,589,316 (GRCm39) I647T probably benign Het
Kifap3 T A 1: 163,653,440 (GRCm39) probably benign Het
Lama3 G A 18: 12,670,915 (GRCm39) probably null Het
Lipa A C 19: 34,471,522 (GRCm39) I351S possibly damaging Het
Ltbp2 G T 12: 84,832,091 (GRCm39) A1631D probably benign Het
Masp2 A G 4: 148,698,477 (GRCm39) I519M probably damaging Het
Mfsd6 A G 1: 52,702,436 (GRCm39) probably benign Het
Numa1 T G 7: 101,661,216 (GRCm39) D1846E probably benign Het
Oog3 A T 4: 143,885,920 (GRCm39) I226K probably damaging Het
Or11h6 A G 14: 50,880,658 (GRCm39) T301A probably benign Het
Or5an6 A T 19: 12,372,265 (GRCm39) I213F probably benign Het
Or8b3b T C 9: 38,584,209 (GRCm39) Y177C probably damaging Het
Or8g53 T G 9: 39,683,800 (GRCm39) T99P probably damaging Het
Or9s13 A T 1: 92,548,183 (GRCm39) Y185F probably benign Het
Pkdcc T C 17: 83,531,295 (GRCm39) S435P probably damaging Het
Ppm1g A G 5: 31,365,425 (GRCm39) Y70H probably damaging Het
Prcc C T 3: 87,776,984 (GRCm39) S330N probably damaging Het
Ror2 A T 13: 53,272,876 (GRCm39) L251Q probably damaging Het
Scn11a A G 9: 119,621,464 (GRCm39) L651P probably damaging Het
Skint6 A T 4: 112,805,737 (GRCm39) probably benign Het
Slc23a4 A G 6: 34,931,917 (GRCm39) F186L probably benign Het
Slc30a8 A T 15: 52,198,530 (GRCm39) D325V probably benign Het
Son C T 16: 91,452,099 (GRCm39) T282M possibly damaging Het
Tas2r118 A T 6: 23,969,891 (GRCm39) F57I probably damaging Het
Tcf7l1 A G 6: 72,606,966 (GRCm39) S447P probably benign Het
Thsd1 T A 8: 22,733,454 (GRCm39) V167E probably damaging Het
Tle3 T C 9: 61,322,063 (GRCm39) V696A probably damaging Het
Tmem67 A T 4: 12,069,463 (GRCm39) I405K possibly damaging Het
Tmem71 A C 15: 66,413,466 (GRCm39) V202G probably benign Het
Trim6 T C 7: 103,881,564 (GRCm39) probably benign Het
Trip12 A G 1: 84,721,535 (GRCm39) probably benign Het
Ubr1 A C 2: 120,694,854 (GRCm39) C1693G possibly damaging Het
Ush2a G A 1: 188,648,195 (GRCm39) R4600H probably damaging Het
Vil1 A G 1: 74,465,851 (GRCm39) I547M probably benign Het
Vmn1r219 A T 13: 23,347,266 (GRCm39) I152L probably benign Het
Vmn1r26 A G 6: 57,986,127 (GRCm39) F21L possibly damaging Het
Vmn2r45 T A 7: 8,486,185 (GRCm39) K368* probably null Het
Vmn2r68 C T 7: 84,871,153 (GRCm39) W710* probably null Het
Zfp808 T A 13: 62,321,032 (GRCm39) *754R probably null Het
Zyg11b C T 4: 108,123,515 (GRCm39) E151K probably damaging Het
Other mutations in Git1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00092:Git1 APN 11 77,396,783 (GRCm39) missense probably benign
IGL00401:Git1 APN 11 77,389,782 (GRCm39) splice site 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
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 2015-04-16