Incidental Mutation 'IGL01512:Abra'
ID89266
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abra
Ensembl Gene ENSMUSG00000042895
Gene Nameactin-binding Rho activating protein
SynonymsSTARS, C130068O12Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.339) question?
Stock #IGL01512
Quality Score
Status
Chromosome15
Chromosomal Location41864076-41869720 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 41866017 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 329 (E329G)
Ref Sequence ENSEMBL: ENSMUSP00000051973 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022918] [ENSMUST00000054742] [ENSMUST00000090095] [ENSMUST00000090096] [ENSMUST00000110297] [ENSMUST00000170127] [ENSMUST00000179393] [ENSMUST00000230203]
Predicted Effect probably benign
Transcript: ENSMUST00000022918
SMART Domains Protein: ENSMUSP00000022918
Gene: ENSMUSG00000022307

DomainStartEndE-ValueType
LysM 11 54 2.48e-9 SMART
low complexity region 113 120 N/A INTRINSIC
low complexity region 540 557 N/A INTRINSIC
TLDc 616 778 1.05e-80 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000054742
AA Change: E329G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000051973
Gene: ENSMUSG00000042895
AA Change: E329G

DomainStartEndE-ValueType
Costars 298 374 6.22e-45 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000090095
SMART Domains Protein: ENSMUSP00000087553
Gene: ENSMUSG00000022307

DomainStartEndE-ValueType
LysM 11 54 2.48e-9 SMART
low complexity region 113 120 N/A INTRINSIC
low complexity region 540 557 N/A INTRINSIC
TLDc 589 751 1.05e-80 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000090096
SMART Domains Protein: ENSMUSP00000087554
Gene: ENSMUSG00000022307

DomainStartEndE-ValueType
LysM 11 54 2.48e-9 SMART
low complexity region 113 120 N/A INTRINSIC
low complexity region 540 557 N/A INTRINSIC
TLDc 589 751 1.05e-80 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110297
SMART Domains Protein: ENSMUSP00000105926
Gene: ENSMUSG00000022307

DomainStartEndE-ValueType
low complexity region 31 45 N/A INTRINSIC
LysM 99 142 2.48e-9 SMART
low complexity region 201 208 N/A INTRINSIC
low complexity region 628 645 N/A INTRINSIC
TLDc 704 866 1.05e-80 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000170127
SMART Domains Protein: ENSMUSP00000126266
Gene: ENSMUSG00000022307

DomainStartEndE-ValueType
LysM 92 135 2.48e-9 SMART
low complexity region 194 201 N/A INTRINSIC
low complexity region 621 638 N/A INTRINSIC
TLDc 670 832 1.05e-80 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000179393
SMART Domains Protein: ENSMUSP00000136923
Gene: ENSMUSG00000022307

DomainStartEndE-ValueType
LysM 11 54 2.48e-9 SMART
low complexity region 113 120 N/A INTRINSIC
low complexity region 540 557 N/A INTRINSIC
TLDc 589 751 1.05e-80 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000230203
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired arteriogenesis following occlusion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T C 11: 110,317,823 I223V probably benign Het
Ahsa2 C T 11: 23,491,582 A163T probably benign Het
Atxn1 T C 13: 45,566,601 Q606R probably damaging Het
Fads1 T A 19: 10,183,142 S31T probably benign Het
Il6st T A 13: 112,504,366 M831K probably benign Het
Lztr1 G A 16: 17,522,391 probably null Het
Megf6 G A 4: 154,262,583 R755Q possibly damaging Het
Ndn T G 7: 62,348,733 L109R probably damaging Het
Olfr124 T G 17: 37,805,612 S156A probably damaging Het
Olfr1263 A G 2: 90,015,292 I121V probably damaging Het
Psmd6 T C 14: 14,114,237 Y294C probably damaging Het
Serpina6 A G 12: 103,654,059 Y144H probably damaging Het
Top3b T C 16: 16,891,422 I68T possibly damaging Het
Trav6d-4 G A 14: 52,753,413 V6I probably benign Het
Utp3 T C 5: 88,555,944 V444A probably damaging Het
Wdr72 T C 9: 74,148,759 V299A probably benign Het
Zfp791 C T 8: 85,113,543 V32M probably damaging Het
Zfp9 A G 6: 118,467,331 F17S probably damaging Het
Other mutations in Abra
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02022:Abra APN 15 41869406 missense probably benign
IGL02370:Abra APN 15 41869244 missense probably damaging 1.00
IGL02406:Abra APN 15 41869187 missense probably damaging 1.00
R1860:Abra UTSW 15 41869034 missense probably damaging 1.00
R1861:Abra UTSW 15 41869034 missense probably damaging 1.00
R2385:Abra UTSW 15 41869353 missense probably damaging 0.97
R3718:Abra UTSW 15 41866293 missense probably benign
R4582:Abra UTSW 15 41869285 missense probably benign 0.16
R4621:Abra UTSW 15 41869224 missense probably benign 0.10
R4724:Abra UTSW 15 41865906 missense probably damaging 1.00
R5926:Abra UTSW 15 41866254 missense probably damaging 1.00
R6417:Abra UTSW 15 41866056 missense probably benign 0.01
R6649:Abra UTSW 15 41869233 missense probably benign
R7348:Abra UTSW 15 41866159 missense probably damaging 1.00
R7487:Abra UTSW 15 41869553 missense probably damaging 1.00
R7997:Abra UTSW 15 41866197 missense probably damaging 1.00
RF053:Abra UTSW 15 41866299 small deletion probably benign
Posted On2013-12-03