Incidental Mutation 'R9126:Git1'
ID 693267
Institutional Source Beutler Lab
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 # R9126 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 77384388-77398612 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 77390380 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 75 (I75N)
Ref Sequence ENSEMBL: ENSMUSP00000037210 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037285] [ENSMUST00000100812]
AlphaFold Q68FF6
Predicted Effect probably damaging
Transcript: ENSMUST00000037285
AA Change: I75N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037210
Gene: ENSMUSG00000011877
AA Change: I75N

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: I75N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098375
Gene: ENSMUSG00000011877
AA Change: I75N

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam30 G T 3: 98,068,307 (GRCm39) V47L probably benign Het
Atm T C 9: 53,370,134 (GRCm39) K2323R probably benign Het
Bbx A G 16: 50,020,813 (GRCm39) L865P probably damaging Het
C2cd3 T A 7: 100,081,430 (GRCm39) I1024N Het
Cacna1e A T 1: 154,343,510 (GRCm39) C1161S probably benign Het
Caskin2 A T 11: 115,702,730 (GRCm39) V26E possibly damaging Het
Ccnb3 T G X: 6,874,413 (GRCm39) D722A probably damaging Het
Cep135 C A 5: 76,781,550 (GRCm39) Q846K probably benign Het
Cfap44 A T 16: 44,295,619 (GRCm39) D1639V possibly damaging Het
Cfh G T 1: 140,014,111 (GRCm39) R1238S probably damaging Het
Dctn1 A T 6: 83,169,835 (GRCm39) D712V probably damaging Het
Ddx21 T C 10: 62,424,479 (GRCm39) D574G probably damaging Het
Dele1 A G 18: 38,384,210 (GRCm39) T35A probably benign Het
Dipk1b A G 2: 26,525,989 (GRCm39) T308A probably benign Het
Dlgap5 A G 14: 47,638,989 (GRCm39) I443T probably damaging Het
Dusp7 G A 9: 106,250,966 (GRCm39) V364I Het
Entpd1 G T 19: 40,714,608 (GRCm39) R268L possibly damaging Het
Fermt3 C T 19: 6,979,745 (GRCm39) A463T probably benign Het
Frat2 T C 19: 41,836,106 (GRCm39) D82G probably damaging Het
Gpr171 T A 3: 59,005,488 (GRCm39) I96F probably damaging Het
Gzmb G T 14: 56,497,845 (GRCm39) R132S probably benign Het
Hecw1 C T 13: 14,546,608 (GRCm39) R132H probably damaging Het
Hey1 T G 3: 8,729,651 (GRCm39) S269R probably benign Het
Hgf T A 5: 16,765,979 (GRCm39) N38K possibly damaging Het
Lag3 T C 6: 124,881,809 (GRCm39) R467G probably damaging Het
Lama3 A T 18: 12,583,527 (GRCm39) H705L probably damaging Het
Lce3f T G 3: 92,900,327 (GRCm39) S49R unknown Het
Lrrc49 T C 9: 60,578,594 (GRCm39) D250G probably damaging Het
Lzts3 T C 2: 130,477,248 (GRCm39) K400R possibly damaging Het
Macc1 T C 12: 119,409,711 (GRCm39) S160P probably benign Het
Macf1 T C 4: 123,276,193 (GRCm39) T6155A possibly damaging Het
Mboat4 C T 8: 34,582,348 (GRCm39) T34I probably benign Het
Nav3 T A 10: 109,541,524 (GRCm39) Q1913L probably benign Het
Notch4 T C 17: 34,800,080 (GRCm39) S1014P probably benign Het
Or1o4 T C 17: 37,590,745 (GRCm39) T189A probably benign Het
Or2h1b T C 17: 37,462,123 (GRCm39) T247A possibly damaging Het
Or52z1 T G 7: 103,437,002 (GRCm39) I161L probably benign Het
Orc2 A C 1: 58,515,628 (GRCm39) H293Q probably benign Het
Otoa A G 7: 120,693,845 (GRCm39) Y75C probably damaging Het
Pate2 T A 9: 35,581,908 (GRCm39) probably null Het
Phldb3 G A 7: 24,326,726 (GRCm39) V585I probably damaging Het
Plk3 ACACTCAC ACAC 4: 116,989,090 (GRCm39) probably benign Het
Pou2f1 A T 1: 165,722,603 (GRCm39) N443K unknown Het
Prkci T A 3: 31,072,793 (GRCm39) F66I probably damaging Het
Ptprz1 C T 6: 23,002,334 (GRCm39) Q1475* probably null Het
Qars1 C T 9: 108,386,399 (GRCm39) R143C probably damaging Het
Reln T C 5: 22,160,194 (GRCm39) D2125G probably damaging Het
Rp1 A T 1: 4,417,136 (GRCm39) D1325E probably damaging Het
Rpl36a-ps1 A T 14: 99,231,694 (GRCm39) C15S probably damaging Het
Rsf1 CG CGACGGCGGGG 7: 97,229,115 (GRCm39) probably benign Het
Scn9a A G 2: 66,314,744 (GRCm39) I1658T probably damaging Het
Serinc1 C T 10: 57,395,577 (GRCm39) G370S probably benign Het
Spef1 G T 2: 131,013,829 (GRCm39) T197K probably damaging Het
Spmap2l A G 5: 77,164,453 (GRCm39) Y152C probably damaging Het
Sptan1 G A 2: 29,920,597 (GRCm39) V2363I probably damaging Het
Ssh2 T A 11: 77,346,102 (GRCm39) C1362* probably null Het
Star T C 8: 26,302,832 (GRCm39) V258A probably benign Het
Sympk T C 7: 18,778,873 (GRCm39) I588T possibly damaging Het
Tas2r136 T C 6: 132,754,584 (GRCm39) N181S probably damaging Het
Tbc1d4 A T 14: 101,724,952 (GRCm39) V555E probably benign Het
Topaz1 G A 9: 122,625,228 (GRCm39) V1438I probably benign Het
Trmt112 T A 19: 6,887,786 (GRCm39) M45K Het
Tshr G A 12: 91,503,992 (GRCm39) R310H probably damaging Het
Ulk4 G T 9: 121,090,988 (GRCm39) P238Q probably damaging Het
Unc5a T C 13: 55,145,774 (GRCm39) L312P possibly damaging Het
Urb1 T C 16: 90,566,290 (GRCm39) D1499G possibly damaging Het
Ushbp1 A G 8: 71,843,653 (GRCm39) S262P probably damaging Het
Vmn1r173 G A 7: 23,402,008 (GRCm39) R81K probably benign Het
Vmn2r5 G A 3: 64,399,159 (GRCm39) P607S probably benign Het
Vtn G T 11: 78,391,256 (GRCm39) G223V probably damaging Het
Zfhx4 T C 3: 5,394,589 (GRCm39) V1061A probably damaging Het
Zfp169 T C 13: 48,644,557 (GRCm39) E190G unknown Het
Zfp616 T A 11: 73,976,280 (GRCm39) C850S 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
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
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'- CAGGACACATGACTTTGGGTG -3'
(R):5'- TGCCCTGATGAACTCTGACTTG -3'

Sequencing Primer
(F):5'- TGGCCTGAGTGGATACCAGAC -3'
(R):5'- CCCTGATGAACTCTGACTTGATGGG -3'
Posted On 2022-01-20