Incidental Mutation 'IGL00904:Abi1'
ID26838
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abi1
Ensembl Gene ENSMUSG00000058835
Gene Nameabl-interactor 1
SynonymsE3B1, Ssh3bp1
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.725) question?
Stock #IGL00904
Quality Score
Status
Chromosome2
Chromosomal Location22940073-23040241 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 22941930 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glutamine at position 404 (R404Q)
Ref Sequence ENSEMBL: ENSMUSP00000116093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053729] [ENSMUST00000078977] [ENSMUST00000091394] [ENSMUST00000093171] [ENSMUST00000114544] [ENSMUST00000123948] [ENSMUST00000126112] [ENSMUST00000139038] [ENSMUST00000140164] [ENSMUST00000149229] [ENSMUST00000178908] [ENSMUST00000153931] [ENSMUST00000149719]
Predicted Effect probably benign
Transcript: ENSMUST00000053729
SMART Domains Protein: ENSMUSP00000055689
Gene: ENSMUSG00000026784

DomainStartEndE-ValueType
low complexity region 4 15 N/A INTRINSIC
Pfam:polyprenyl_synt 117 366 1.5e-68 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000078977
AA Change: R434Q

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000077997
Gene: ENSMUSG00000058835
AA Change: R434Q

DomainStartEndE-ValueType
Pfam:Abi_HHR 93 171 3.7e-38 PFAM
low complexity region 176 185 N/A INTRINSIC
low complexity region 240 258 N/A INTRINSIC
low complexity region 264 282 N/A INTRINSIC
low complexity region 296 303 N/A INTRINSIC
low complexity region 337 364 N/A INTRINSIC
SH3 393 448 2.38e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000091394
AA Change: R462Q

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000088957
Gene: ENSMUSG00000058835
AA Change: R462Q

DomainStartEndE-ValueType
Pfam:Abi_HHR 93 171 4.1e-38 PFAM
low complexity region 176 185 N/A INTRINSIC
low complexity region 240 258 N/A INTRINSIC
low complexity region 264 281 N/A INTRINSIC
low complexity region 295 302 N/A INTRINSIC
low complexity region 336 351 N/A INTRINSIC
low complexity region 365 392 N/A INTRINSIC
SH3 421 476 2.38e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000093171
AA Change: R433Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000090860
Gene: ENSMUSG00000058835
AA Change: R433Q

DomainStartEndE-ValueType
Pfam:Abi_HHR 93 171 3.7e-38 PFAM
low complexity region 176 185 N/A INTRINSIC
low complexity region 240 258 N/A INTRINSIC
low complexity region 264 281 N/A INTRINSIC
low complexity region 295 302 N/A INTRINSIC
low complexity region 336 363 N/A INTRINSIC
SH3 392 447 2.38e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114544
AA Change: R370Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000110191
Gene: ENSMUSG00000058835
AA Change: R370Q

DomainStartEndE-ValueType
Pfam:Abi_HHR 93 170 4.4e-37 PFAM
low complexity region 171 180 N/A INTRINSIC
low complexity region 235 253 N/A INTRINSIC
low complexity region 268 300 N/A INTRINSIC
SH3 329 384 2.38e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123948
AA Change: R463Q

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000118491
Gene: ENSMUSG00000058835
AA Change: R463Q

DomainStartEndE-ValueType
Pfam:Abi_HHR 93 170 5.1e-39 PFAM
low complexity region 176 185 N/A INTRINSIC
low complexity region 240 258 N/A INTRINSIC
low complexity region 264 282 N/A INTRINSIC
low complexity region 296 303 N/A INTRINSIC
low complexity region 337 352 N/A INTRINSIC
low complexity region 366 393 N/A INTRINSIC
SH3 422 477 2.38e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000126112
AA Change: R458Q

PolyPhen 2 Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000117335
Gene: ENSMUSG00000058835
AA Change: R458Q

DomainStartEndE-ValueType
Pfam:Abi_HHR 93 170 8.6e-37 PFAM
low complexity region 171 180 N/A INTRINSIC
low complexity region 235 253 N/A INTRINSIC
low complexity region 259 277 N/A INTRINSIC
low complexity region 291 298 N/A INTRINSIC
low complexity region 332 347 N/A INTRINSIC
low complexity region 361 388 N/A INTRINSIC
SH3 417 472 2.38e-23 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135308
Predicted Effect possibly damaging
Transcript: ENSMUST00000139038
AA Change: R404Q

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000116093
Gene: ENSMUSG00000058835
AA Change: R404Q

DomainStartEndE-ValueType
Pfam:Abi_HHR 93 171 3.4e-38 PFAM
low complexity region 176 185 N/A INTRINSIC
low complexity region 240 258 N/A INTRINSIC
low complexity region 264 293 N/A INTRINSIC
low complexity region 307 334 N/A INTRINSIC
SH3 363 418 2.38e-23 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139472
Predicted Effect probably benign
Transcript: ENSMUST00000140164
AA Change: R457Q

PolyPhen 2 Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000120462
Gene: ENSMUSG00000058835
AA Change: R457Q

DomainStartEndE-ValueType
Pfam:Abi_HHR 93 170 8.6e-37 PFAM
low complexity region 171 180 N/A INTRINSIC
low complexity region 235 253 N/A INTRINSIC
low complexity region 259 276 N/A INTRINSIC
low complexity region 290 297 N/A INTRINSIC
low complexity region 331 346 N/A INTRINSIC
low complexity region 360 387 N/A INTRINSIC
SH3 416 471 2.38e-23 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148294
Predicted Effect probably benign
Transcript: ENSMUST00000149229
Predicted Effect probably benign
Transcript: ENSMUST00000178908
AA Change: R463Q

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000136846
Gene: ENSMUSG00000058835
AA Change: R463Q

DomainStartEndE-ValueType
Pfam:Abi_HHR 93 171 3.9e-37 PFAM
low complexity region 176 185 N/A INTRINSIC
low complexity region 240 258 N/A INTRINSIC
low complexity region 264 282 N/A INTRINSIC
low complexity region 296 303 N/A INTRINSIC
low complexity region 337 352 N/A INTRINSIC
low complexity region 366 393 N/A INTRINSIC
SH3 422 477 2.38e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000153931
AA Change: R375Q

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000120769
Gene: ENSMUSG00000058835
AA Change: R375Q

DomainStartEndE-ValueType
Pfam:Abi_HHR 93 171 3e-38 PFAM
low complexity region 176 185 N/A INTRINSIC
low complexity region 240 258 N/A INTRINSIC
low complexity region 273 305 N/A INTRINSIC
SH3 334 389 2.38e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000149719
AA Change: R428Q

PolyPhen 2 Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000120621
Gene: ENSMUSG00000058835
AA Change: R428Q

DomainStartEndE-ValueType
Pfam:Abi_HHR 93 170 7.8e-37 PFAM
low complexity region 171 180 N/A INTRINSIC
low complexity region 235 253 N/A INTRINSIC
low complexity region 259 276 N/A INTRINSIC
low complexity region 290 297 N/A INTRINSIC
low complexity region 331 358 N/A INTRINSIC
SH3 387 442 2.38e-23 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156344
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Abelson-interactor family of adaptor proteins. These proteins facilitate signal transduction as components of several multiprotein complexes, and regulate actin polymerization and cytoskeletal remodeling through interactions with Abelson tyrosine kinases. The encoded protein plays a role in macropinocytosis as a component of the WAVE2 complex, and also forms a complex with EPS8 and SOS1 that mediates signal transduction from Ras to Rac. This gene may play a role in the progression of several malignancies including melanoma, colon cancer and breast cancer, and a t(10;11) chromosomal translocation involving this gene and the MLL gene has been associated with acute myeloid leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 14. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit background sensitive embryonic lethality prior during organogenesis associated with about abnormal vasculogenesis and angiogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 G T 6: 86,946,153 G236C probably damaging Het
Atp8b3 C T 10: 80,528,764 G532R probably damaging Het
Bysl C T 17: 47,601,871 M331I probably benign Het
Cndp1 A G 18: 84,611,665 S468P probably benign Het
Esd A G 14: 74,749,688 *266W probably null Het
F5 T C 1: 164,194,009 V1351A probably benign Het
Fchsd2 A G 7: 101,271,622 D454G probably benign Het
Fndc1 T A 17: 7,756,363 M1415L probably benign Het
Ghr T A 15: 3,328,120 Y222F probably benign Het
Gm6583 G A 5: 112,355,128 R237* probably null Het
Gtf3c2 C T 5: 31,172,858 S299N probably damaging Het
Ice1 C T 13: 70,602,289 D93N probably damaging Het
Ints7 T A 1: 191,596,164 probably null Het
Kif18a A G 2: 109,292,126 D182G probably damaging Het
Mcm9 A T 10: 53,622,921 H308Q possibly damaging Het
Mesp2 A G 7: 79,812,653 D319G probably benign Het
Mrpl55 T A 11: 59,205,673 S84T probably benign Het
Mybpc3 T C 2: 91,120,029 V123A probably benign Het
Myom1 T C 17: 71,099,949 probably benign Het
Nfia C T 4: 98,065,386 P325S probably damaging Het
Notch4 T C 17: 34,575,561 probably null Het
Npepps A C 11: 97,258,306 V130G probably damaging Het
Olfr1356 A T 10: 78,847,763 S51T probably damaging Het
Pja2 G T 17: 64,283,531 T669K probably damaging Het
Rnf112 G T 11: 61,452,784 D98E probably damaging Het
Rsl1d1 G A 16: 11,199,694 T136I probably damaging Het
Samsn1 A T 16: 75,909,120 probably benign Het
Slc6a9 T C 4: 117,864,617 L280P probably damaging Het
Svep1 T C 4: 58,097,398 N1382D probably benign Het
Vmn2r100 T G 17: 19,526,000 C474G probably damaging Het
Vmn2r74 C T 7: 85,957,580 R186H probably benign Het
Wdr7 T C 18: 63,796,231 I1046T probably benign Het
Other mutations in Abi1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01694:Abi1 APN 2 22960713 missense probably damaging 1.00
IGL01809:Abi1 APN 2 22946717 missense probably benign 0.00
IGL02189:Abi1 APN 2 23040064 start codon destroyed probably null 1.00
IGL03126:Abi1 APN 2 22953467 missense probably benign 0.12
IGL03213:Abi1 APN 2 22941959 missense probably damaging 1.00
IGL03325:Abi1 APN 2 22971228 missense probably damaging 1.00
R0421:Abi1 UTSW 2 22960827 missense probably damaging 1.00
R0505:Abi1 UTSW 2 22962504 splice site probably benign
R1265:Abi1 UTSW 2 22946722 missense possibly damaging 0.85
R1851:Abi1 UTSW 2 22950264 missense possibly damaging 0.78
R2975:Abi1 UTSW 2 22957087 missense probably damaging 0.99
R3416:Abi1 UTSW 2 23040002 missense probably damaging 1.00
R5000:Abi1 UTSW 2 22950199 missense probably damaging 1.00
R5277:Abi1 UTSW 2 22994648 missense probably damaging 1.00
R5945:Abi1 UTSW 2 23039965 missense probably damaging 1.00
R6785:Abi1 UTSW 2 22953467 missense probably benign 0.12
R7000:Abi1 UTSW 2 22942041 missense probably damaging 1.00
R7249:Abi1 UTSW 2 22957089 missense possibly damaging 0.82
R7565:Abi1 UTSW 2 22946584 missense probably benign 0.00
R8052:Abi1 UTSW 2 22953543 missense probably benign 0.04
R8252:Abi1 UTSW 2 22971272 splice site probably benign
X0026:Abi1 UTSW 2 22971154 nonsense probably null
Posted On2013-04-17