Incidental Mutation 'IGL02143:Git1'
ID281671
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Git1
Ensembl Gene ENSMUSG00000011877
Gene NameG protein-coupled receptor kinase-interactor 1
Synonymsp95Cat, Cat-1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02143
Quality Score
Status
Chromosome11
Chromosomal Location77493562-77507786 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 77505987 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 645 (V645A)
Ref Sequence ENSEMBL: ENSMUSP00000098375 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037285] [ENSMUST00000060417] [ENSMUST00000100812]
Predicted Effect possibly damaging
Transcript: ENSMUST00000037285
AA Change: V654A

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000037210
Gene: ENSMUSG00000011877
AA Change: V654A

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: V645A

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000098375
Gene: ENSMUSG00000011877
AA Change: V645A

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: 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
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019N19Rik C A 19: 58,789,252 R34L possibly damaging Het
Abhd5 T C 9: 122,365,213 M1T probably null Het
Ager G A 17: 34,599,118 G183E probably damaging Het
Alcam C A 16: 52,305,619 V112L probably damaging Het
Amot T A X: 145,487,028 Q204H probably damaging Het
Ankar C T 1: 72,658,649 probably null Het
Armc9 A G 1: 86,176,865 M279V possibly damaging Het
Bpifb1 C T 2: 154,209,929 T218I probably benign Het
Cacna1f A C X: 7,613,995 probably benign Het
Cacna2d2 T C 9: 107,518,275 probably null Het
Ccdc57 A T 11: 120,861,243 C837* probably null Het
Ctbp2 G A 7: 132,991,156 A808V probably damaging Het
Dcbld2 T C 16: 58,448,526 probably null Het
Dis3 T C 14: 99,091,318 probably benign Het
Disp2 T C 2: 118,789,969 F394S probably damaging Het
Dnah1 T C 14: 31,283,289 N2336S probably damaging Het
Drap1 C A 19: 5,423,843 L66F probably damaging Het
Eif5a2 C T 3: 28,793,739 R109C probably benign Het
Enpp1 A T 10: 24,677,974 D105E probably damaging Het
Evi5l G A 8: 4,191,293 M275I probably damaging Het
Flt1 T C 5: 147,578,436 T1059A probably benign Het
Fndc3c1 T C X: 106,472,734 probably benign Het
Gm7735 T A 16: 89,169,549 C20* probably null Het
Ighv1-42 G T 12: 114,937,286 P60T probably benign Het
Jakmip2 A T 18: 43,563,285 L533Q probably damaging Het
Kdm2b C T 5: 122,947,835 E238K probably damaging Het
Lpin2 T C 17: 71,243,926 S694P probably damaging Het
Mab21l2 C T 3: 86,547,255 R146Q possibly damaging Het
Mmp1b A T 9: 7,386,400 S174T probably benign Het
Neb T C 2: 52,291,199 Y1132C probably damaging Het
Nhsl1 A T 10: 18,511,635 H219L possibly damaging Het
Nwd2 T A 5: 63,791,653 probably null Het
Obp1a A C X: 78,090,843 M18R possibly damaging Het
Olfr525 A T 7: 140,323,592 K298* probably null Het
Olfr695 T C 7: 106,873,973 T91A probably benign Het
Pabpc5 T A X: 119,927,991 M1K probably null Het
Paxip1 A G 5: 27,775,598 probably benign Het
Perm1 A G 4: 156,218,043 E348G probably benign Het
Pfkfb1 T C X: 150,622,142 F170L probably damaging Het
Pou3f3 A G 1: 42,698,526 M461V probably benign Het
Ppfia2 G A 10: 106,857,499 D622N probably damaging Het
Prtg T G 9: 72,892,324 S801R probably damaging Het
Rars2 T A 4: 34,623,404 probably benign Het
Rasal1 A G 5: 120,652,852 D35G probably damaging Het
Repin1 T A 6: 48,597,121 L272Q probably damaging Het
Stk36 T C 1: 74,616,569 probably benign Het
Tbxa2r A G 10: 81,334,486 T269A probably benign Het
Tmem132c G A 5: 127,563,402 R879Q probably benign Het
Vmn1r78 C A 7: 12,152,480 A6E probably benign Het
Vps45 T C 3: 96,019,646 I530V probably benign Het
Vps45 A T 3: 96,033,821 N369K probably benign Het
Zkscan16 G A 4: 58,956,911 G398R 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
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
R4471:Git1 UTSW 11 77499824 missense probably benign 0.26
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
X0028:Git1 UTSW 11 77499046 missense probably damaging 0.99
Posted On2015-04-16