Incidental Mutation 'IGL02189:Abi1'
ID 283771
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abi1
Ensembl Gene ENSMUSG00000058835
Gene Name abl interactor 1
Synonyms Ssh3bp1, E3B1
Accession Numbers
Essential gene? Probably essential (E-score: 0.753) question?
Stock # IGL02189
Quality Score
Status
Chromosome 2
Chromosomal Location 22830085-22930207 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to C at 22930076 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 1 (M1R)
Ref Sequence ENSEMBL: ENSMUSP00000120769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078977] [ENSMUST00000091394] [ENSMUST00000093171] [ENSMUST00000114544] [ENSMUST00000123948] [ENSMUST00000126112] [ENSMUST00000139038] [ENSMUST00000140164] [ENSMUST00000178908] [ENSMUST00000153931] [ENSMUST00000149719]
AlphaFold Q8CBW3
Predicted Effect probably null
Transcript: ENSMUST00000078977
AA Change: M1R

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000077997
Gene: ENSMUSG00000058835
AA Change: M1R

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 null
Transcript: ENSMUST00000091394
AA Change: M1R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000088957
Gene: ENSMUSG00000058835
AA Change: M1R

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 null
Transcript: ENSMUST00000093171
AA Change: M1R

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000090860
Gene: ENSMUSG00000058835
AA Change: M1R

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 null
Transcript: ENSMUST00000114544
AA Change: M1R

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110191
Gene: ENSMUSG00000058835
AA Change: M1R

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 null
Transcript: ENSMUST00000123948
AA Change: M1R

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000118491
Gene: ENSMUSG00000058835
AA Change: M1R

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 null
Transcript: ENSMUST00000126112
AA Change: M1R

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000117335
Gene: ENSMUSG00000058835
AA Change: M1R

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 probably null
Transcript: ENSMUST00000139038
AA Change: M1R

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000116093
Gene: ENSMUSG00000058835
AA Change: M1R

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 probably null
Transcript: ENSMUST00000140164
AA Change: M1R

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000120462
Gene: ENSMUSG00000058835
AA Change: M1R

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 probably null
Transcript: ENSMUST00000178908
AA Change: M1R

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000136846
Gene: ENSMUSG00000058835
AA Change: M1R

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 null
Transcript: ENSMUST00000153931
AA Change: M1R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120769
Gene: ENSMUSG00000058835
AA Change: M1R

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 null
Transcript: ENSMUST00000149719
AA Change: M1R

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000120621
Gene: ENSMUSG00000058835
AA Change: M1R

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
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 A T 11: 48,838,248 (GRCm39) Y780N probably benign Het
Aadacl2 T C 3: 59,932,609 (GRCm39) S375P probably damaging Het
Acss1 T C 2: 150,471,788 (GRCm39) D322G probably damaging Het
Adam22 G A 5: 8,380,029 (GRCm39) R90W possibly damaging Het
Agtpbp1 T C 13: 59,648,275 (GRCm39) H515R probably benign Het
C3 T C 17: 57,527,113 (GRCm39) K779E probably benign Het
Cfhr2 A G 1: 139,749,497 (GRCm39) Y162H probably damaging Het
Chchd5 T C 2: 128,975,188 (GRCm39) probably benign Het
Csmd1 T A 8: 16,321,620 (GRCm39) I493F probably damaging Het
Daam1 A T 12: 71,993,059 (GRCm39) R349S unknown Het
Dnah11 T C 12: 118,046,314 (GRCm39) E1708G probably benign Het
Epg5 A G 18: 78,056,085 (GRCm39) D1753G probably damaging Het
Flt4 T G 11: 49,516,830 (GRCm39) C206G probably damaging Het
Fscn1 G T 5: 142,946,375 (GRCm39) A58S possibly damaging Het
Gapvd1 A T 2: 34,618,556 (GRCm39) N272K probably damaging Het
Gem T A 4: 11,706,121 (GRCm39) S70T possibly damaging Het
H2-K2 A G 17: 34,218,466 (GRCm39) L150P probably damaging Het
Hsd3b3 T A 3: 98,649,454 (GRCm39) I290L probably benign Het
Iws1 A G 18: 32,226,178 (GRCm39) R689G probably damaging Het
Klk1b22 A G 7: 43,765,630 (GRCm39) probably null Het
Klra4 T A 6: 130,021,105 (GRCm39) D230V possibly damaging Het
Krt26 C T 11: 99,224,471 (GRCm39) R349Q probably benign Het
Liat1 A G 11: 75,891,056 (GRCm39) K57E probably damaging Het
Lilra5 A T 7: 4,240,968 (GRCm39) M21L probably benign Het
Lrrc20 T A 10: 61,362,887 (GRCm39) V44D possibly damaging Het
Mtx1 T G 3: 89,116,624 (GRCm39) M426L probably damaging Het
Mylk2 C T 2: 152,757,074 (GRCm39) P283L probably damaging Het
Mynn T A 3: 30,667,693 (GRCm39) probably benign Het
Odr4 G T 1: 150,247,784 (GRCm39) N356K possibly damaging Het
Or4c1 A C 2: 89,133,641 (GRCm39) C98W probably damaging Het
Parl T A 16: 20,116,453 (GRCm39) I116F probably damaging Het
Pdlim3 T C 8: 46,338,630 (GRCm39) V5A probably damaging Het
Pld1 G A 3: 28,174,932 (GRCm39) V857I probably benign Het
Ptprf T A 4: 118,070,839 (GRCm39) probably benign Het
Ptprn A G 1: 75,235,139 (GRCm39) S170P possibly damaging Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Rps27a C A 11: 29,496,772 (GRCm39) Q40H probably damaging Het
Ryr3 A T 2: 112,585,183 (GRCm39) probably benign Het
Scube3 G T 17: 28,381,970 (GRCm39) C332F probably benign Het
Sh3glb2 T C 2: 30,235,351 (GRCm39) probably null Het
Sh3tc2 A G 18: 62,123,693 (GRCm39) E818G probably benign Het
Slc16a3 G A 11: 120,847,597 (GRCm39) V262I probably benign Het
Sptbn1 T A 11: 30,067,871 (GRCm39) D1781V probably damaging Het
Ssr1 C T 13: 38,171,492 (GRCm39) probably null Het
Tep1 A G 14: 51,064,283 (GRCm39) L2442S probably benign Het
Tonsl A T 15: 76,507,378 (GRCm39) V94D possibly damaging Het
Ttc22 A T 4: 106,496,354 (GRCm39) H468L probably benign Het
Ttc27 C T 17: 75,036,894 (GRCm39) T189M probably damaging Het
Ttn T C 2: 76,720,500 (GRCm39) probably benign Het
Ttn T G 2: 76,590,239 (GRCm39) I21157L probably damaging Het
Vav3 T A 3: 109,433,276 (GRCm39) probably benign Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Other mutations in Abi1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00904:Abi1 APN 2 22,831,942 (GRCm39) missense possibly damaging 0.71
IGL01694:Abi1 APN 2 22,850,725 (GRCm39) missense probably damaging 1.00
IGL01809:Abi1 APN 2 22,836,729 (GRCm39) missense probably benign 0.00
IGL03126:Abi1 APN 2 22,843,479 (GRCm39) missense probably benign 0.12
IGL03213:Abi1 APN 2 22,831,971 (GRCm39) missense probably damaging 1.00
IGL03325:Abi1 APN 2 22,861,240 (GRCm39) missense probably damaging 1.00
R0421:Abi1 UTSW 2 22,850,839 (GRCm39) missense probably damaging 1.00
R0505:Abi1 UTSW 2 22,852,516 (GRCm39) splice site probably benign
R1265:Abi1 UTSW 2 22,836,734 (GRCm39) missense possibly damaging 0.85
R1851:Abi1 UTSW 2 22,840,276 (GRCm39) missense possibly damaging 0.78
R2975:Abi1 UTSW 2 22,847,099 (GRCm39) missense probably damaging 0.99
R3416:Abi1 UTSW 2 22,930,014 (GRCm39) missense probably damaging 1.00
R5000:Abi1 UTSW 2 22,840,211 (GRCm39) missense probably damaging 1.00
R5277:Abi1 UTSW 2 22,884,660 (GRCm39) missense probably damaging 1.00
R5945:Abi1 UTSW 2 22,929,977 (GRCm39) missense probably damaging 1.00
R6785:Abi1 UTSW 2 22,843,479 (GRCm39) missense probably benign 0.12
R7000:Abi1 UTSW 2 22,832,053 (GRCm39) missense probably damaging 1.00
R7249:Abi1 UTSW 2 22,847,101 (GRCm39) missense possibly damaging 0.82
R7565:Abi1 UTSW 2 22,836,596 (GRCm39) missense probably benign 0.00
R8052:Abi1 UTSW 2 22,843,555 (GRCm39) missense probably benign 0.04
R8252:Abi1 UTSW 2 22,861,284 (GRCm39) splice site probably benign
R8891:Abi1 UTSW 2 22,861,262 (GRCm39) missense probably damaging 0.96
R9214:Abi1 UTSW 2 22,831,989 (GRCm39) nonsense probably null
X0026:Abi1 UTSW 2 22,861,166 (GRCm39) nonsense probably null
Posted On 2015-04-16