Incidental Mutation 'R4653:Git1'
ID 351485
Institutional Source Beutler Lab
Gene Symbol Git1
Ensembl Gene ENSMUSG00000011877
Gene Name GIT ArfGAP 1
Synonyms p95Cat, Cat-1
MMRRC Submission 041913-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4653 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 77384388-77398612 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 77395869 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 468 (N468S)
Ref Sequence ENSEMBL: ENSMUSP00000098375 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037285] [ENSMUST00000060417] [ENSMUST00000100812]
AlphaFold Q68FF6
Predicted Effect possibly damaging
Transcript: ENSMUST00000037285
AA Change: N477S

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000037210
Gene: ENSMUSG00000011877
AA Change: N477S

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: ENSMUST00000060417
SMART Domains Protein: ENSMUSP00000057592
Gene: ENSMUSG00000044328

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 77 90 N/A INTRINSIC
low complexity region 130 139 N/A INTRINSIC
low complexity region 188 205 N/A INTRINSIC
low complexity region 222 236 N/A INTRINSIC
low complexity region 281 299 N/A INTRINSIC
transmembrane domain 303 325 N/A INTRINSIC
low complexity region 350 375 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000100812
AA Change: N468S

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000098375
Gene: ENSMUSG00000011877
AA Change: N468S

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: ENSMUST00000124690
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126857
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127302
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139410
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152428
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128796
Predicted Effect probably benign
Transcript: ENSMUST00000136101
SMART Domains Protein: ENSMUSP00000122898
Gene: ENSMUSG00000044328

DomainStartEndE-ValueType
low complexity region 114 127 N/A INTRINSIC
low complexity region 167 176 N/A INTRINSIC
Meta Mutation Damage Score 0.0888 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 97% (66/68)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T C 10: 78,903,264 (GRCm39) T351A probably benign Het
3930402G23Rik A T 8: 10,976,075 (GRCm39) noncoding transcript Het
4933409G03Rik G A 2: 68,436,559 (GRCm39) E168K unknown Het
Abca4 G T 3: 121,932,230 (GRCm39) E295* probably null Het
Abi3 T C 11: 95,723,637 (GRCm39) I215V probably benign Het
Adhfe1 G T 1: 9,620,803 (GRCm39) probably benign Het
Akr1a1 A G 4: 116,495,156 (GRCm39) probably benign Het
Ank T A 15: 27,590,447 (GRCm39) W344R probably null Het
Cast A G 13: 74,894,133 (GRCm39) S171P probably benign Het
Ccdc39 A G 3: 33,873,955 (GRCm39) probably null Het
Cd180 T A 13: 102,841,416 (GRCm39) L154H probably damaging Het
Cnp A T 11: 100,467,342 (GRCm39) D95V probably benign Het
Cul1 T C 6: 47,461,897 (GRCm39) I20T probably damaging Het
Dnah6 T C 6: 73,050,440 (GRCm39) K3042R possibly damaging Het
Dpy19l1 A C 9: 24,393,350 (GRCm39) S140A possibly damaging Het
Dpys C A 15: 39,656,642 (GRCm39) R475L probably damaging Het
Dync1i2 A G 2: 71,078,199 (GRCm39) N276S probably damaging Het
Ext2 T C 2: 93,526,504 (GRCm39) S711G probably benign Het
Fancm A G 12: 65,129,828 (GRCm39) Y223C probably damaging Het
Folh1 C A 7: 86,393,633 (GRCm39) G360* probably null Het
Garin5b T C 7: 4,761,054 (GRCm39) R553G possibly damaging Het
Gcat T C 15: 78,919,487 (GRCm39) S151P probably damaging Het
Gcm2 A T 13: 41,256,317 (GRCm39) D477E probably benign Het
Gtf3c1 T C 7: 125,273,272 (GRCm39) I622V probably benign Het
Hsd17b13 G A 5: 104,113,702 (GRCm39) L251F probably damaging Het
Lamc1 T G 1: 153,104,523 (GRCm39) S59R probably damaging Het
Llgl1 A G 11: 60,599,477 (GRCm39) D486G possibly damaging Het
Lrrk1 T C 7: 65,922,801 (GRCm39) I1366V probably benign Het
Ly9 G T 1: 171,421,597 (GRCm39) H441Q probably benign Het
Mtcl2 A G 2: 156,882,511 (GRCm39) F514L probably damaging Het
Myo15b G A 11: 115,770,813 (GRCm39) probably null Het
Nomo1 G T 7: 45,711,237 (GRCm39) A639S probably benign Het
P3h2 T C 16: 25,924,027 (GRCm39) D136G probably damaging Het
Pde4dip A T 3: 97,674,654 (GRCm39) D87E probably damaging Het
Pdpk1 A T 17: 24,325,871 (GRCm39) D108E probably benign Het
Pex26 C T 6: 121,167,084 (GRCm39) S231L probably damaging Het
Prpf38b G A 3: 108,811,408 (GRCm39) probably benign Het
Prpf4b A T 13: 35,083,954 (GRCm39) M908L probably benign Het
Prps2 T C X: 166,135,288 (GRCm39) D183G probably damaging Het
R3hdm1 T C 1: 128,112,181 (GRCm39) S422P probably damaging Het
Rhox2a G C X: 36,508,962 (GRCm39) R43P probably benign Het
Rps6-ps2 A G 8: 89,533,319 (GRCm39) noncoding transcript Het
Ryr3 T A 2: 112,483,108 (GRCm39) N4213I probably damaging Het
Slc7a14 A G 3: 31,311,831 (GRCm39) V63A probably damaging Het
Sppl2a C T 2: 126,762,233 (GRCm39) probably null Het
Sspo T A 6: 48,455,580 (GRCm39) W3077R probably damaging Het
Stag1 T A 9: 100,678,769 (GRCm39) M230K probably damaging Het
Sv2a T C 3: 96,098,078 (GRCm39) probably null Het
Themis2 A G 4: 132,510,287 (GRCm39) S638P probably benign Het
Trabd A G 15: 88,970,042 (GRCm39) Y346C probably damaging Het
Trim38 A T 13: 23,966,952 (GRCm39) D133V probably damaging Het
Trmt1l G A 1: 151,315,320 (GRCm39) V16I probably benign Het
Ube2b A G 11: 51,886,199 (GRCm39) probably null Het
Usp13 A T 3: 32,892,073 (GRCm39) Q84L probably damaging Het
Vmn1r172 G T 7: 23,359,997 (GRCm39) G294V probably damaging Het
Vmn2r59 A T 7: 41,693,228 (GRCm39) H457Q probably benign Het
Vmn2r63 A G 7: 42,553,114 (GRCm39) I714T possibly damaging Het
Vps8 T C 16: 21,318,960 (GRCm39) Y602H probably damaging Het
Zbp1 G A 2: 173,049,608 (GRCm39) P385S possibly 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
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
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
Predicted Primers PCR Primer
(F):5'- TGTCCCTACAGAGCATGGAC -3'
(R):5'- TACTCACCGTGCTGTGGAAAG -3'

Sequencing Primer
(F):5'- ATGGACTCCTCAGATCTGTCAGATG -3'
(R):5'- CTGTGGAAAGGCTGGAGC -3'
Posted On 2015-10-08