Incidental Mutation 'R4471:Git1'
ID329448
Institutional Source Beutler Lab
Gene Symbol Git1
Ensembl Gene ENSMUSG00000011877
Gene NameG protein-coupled receptor kinase-interactor 1
Synonymsp95Cat, Cat-1
MMRRC Submission 041728-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R4471 (G1)
Quality Score225
Status Validated
Chromosome11
Chromosomal Location77493562-77507786 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 77499824 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 129 (T129A)
Ref Sequence ENSEMBL: ENSMUSP00000098375 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037285] [ENSMUST00000100812]
Predicted Effect probably benign
Transcript: ENSMUST00000037285
AA Change: T129A

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000037210
Gene: ENSMUSG00000011877
AA Change: T129A

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: T129A

PolyPhen 2 Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000098375
Gene: ENSMUSG00000011877
AA Change: T129A

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
Meta Mutation Damage Score 0.0884 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 99% (69/70)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930452B06Rik A G 14: 8,536,571 L212P probably damaging Het
AF067061 G T 13: 120,264,043 R81L probably benign Het
Alpk1 A G 3: 127,679,526 S943P probably damaging Het
Ankdd1a T C 9: 65,503,509 D398G probably damaging Het
Ankrd13b T A 11: 77,476,214 K49M probably damaging Het
Asah1 A G 8: 41,343,724 probably null Het
Cdc34b A G 11: 94,742,238 E88G probably benign Het
Cdh2 T C 18: 16,774,476 probably null Het
Ceacam1 T A 7: 25,474,600 N210I possibly damaging Het
Celf3 A G 3: 94,488,278 probably null Het
Cmya5 A T 13: 93,092,325 M2085K probably benign Het
Cpne6 G A 14: 55,516,632 V469M probably damaging Het
Cyp2j12 A G 4: 96,133,069 V100A probably benign Het
Diexf C T 1: 193,130,137 R5Q possibly damaging Het
Dnajb4 A T 3: 152,185,162 H333Q probably benign Het
Eif3f T C 7: 108,940,946 V316A possibly damaging Het
Eml1 T C 12: 108,506,635 probably benign Het
Ern1 C A 11: 106,420,042 V302L possibly damaging Het
Fam110b A T 4: 5,799,092 H170L probably benign Het
Fn3krp T G 11: 121,426,673 D146E probably benign Het
Glrp1 T A 1: 88,503,474 Q58L unknown Het
Gpatch2 A G 1: 187,233,140 E281G probably damaging Het
Hipk2 T A 6: 38,736,922 probably benign Het
Hydin A G 8: 110,587,132 N4214S probably damaging Het
Icam5 T A 9: 21,035,506 C443* probably null Het
Impdh1 G A 6: 29,204,632 Q307* probably null Het
Ivns1abp C T 1: 151,361,239 T447M probably benign Het
Lman1 A T 18: 65,991,726 probably benign Het
Mdn1 A G 4: 32,668,860 E306G probably benign Het
Msc G C 1: 14,755,678 P24R probably damaging Het
Mtif2 T C 11: 29,540,053 probably benign Het
Mvp C T 7: 127,001,958 M1I probably null Het
Myh7 A T 14: 54,991,854 Y162* probably null Het
Nemf G A 12: 69,314,442 H956Y probably benign Het
Nktr T C 9: 121,748,896 probably benign Het
Nrxn3 T C 12: 90,204,741 S276P probably damaging Het
Olfr26 T C 9: 38,855,631 S190P probably damaging Het
Patj A G 4: 98,535,579 K621E probably damaging Het
Prss2 A G 6: 41,522,846 I24V probably damaging Het
R3hcc1l T C 19: 42,582,820 probably benign Het
Rest T C 5: 77,281,180 V482A probably benign Het
Rexo1 A T 10: 80,542,658 S476T probably damaging Het
Rin2 C T 2: 145,860,446 T354I probably benign Het
Slc16a3 T C 11: 120,955,948 probably benign Het
Slc5a4b G A 10: 76,058,891 Q594* probably null Het
Slk T G 19: 47,615,423 V202G probably damaging Het
Smarca2 T A 19: 26,619,877 V53D possibly damaging Het
Snrnp200 T A 2: 127,238,753 V2036E probably benign Het
Sox5 A G 6: 143,844,765 M523T possibly damaging Het
Syt17 A G 7: 118,436,817 probably null Het
Taf2 T C 15: 55,058,880 D337G possibly damaging Het
Tecrl A G 5: 83,313,287 Y108H probably benign Het
Tln1 A T 4: 43,551,018 F409L probably benign Het
Tmem59l A G 8: 70,487,301 L6S unknown Het
Ttc23 G A 7: 67,670,156 R187Q probably benign Het
Ttl T C 2: 129,082,057 V230A probably benign Het
Ube2u G A 4: 100,481,646 W36* probably null Het
Ube4a A T 9: 44,946,532 probably benign Het
Ulk1 C T 5: 110,789,357 R691Q probably benign Het
Unc45a A G 7: 80,332,980 I399T possibly damaging Het
Wdr59 A C 8: 111,466,787 probably null Het
Zfp24 A G 18: 24,018,115 probably benign Het
Zfp777 A T 6: 48,042,107 W342R probably damaging Het
Zfp979 A T 4: 147,613,456 C265* probably null Het
Zzef1 T A 11: 72,913,331 L2633Q probably 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
IGL02933:Git1 APN 11 77501076 missense probably damaging 0.98
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
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
Predicted Primers PCR Primer
(F):5'- TCTCTTCCCCACAGATGGTG -3'
(R):5'- GCCTTGTGTATCCACTTGGG -3'

Sequencing Primer
(F):5'- ACAGATGGTGCACACGCTTG -3'
(R):5'- CTTGGGAGCAGAGGCATCTTAG -3'
Posted On2015-07-21