Incidental Mutation 'R3416:Abi1'
ID 266790
Institutional Source Beutler Lab
Gene Symbol Abi1
Ensembl Gene ENSMUSG00000058835
Gene Name abl interactor 1
Synonyms Ssh3bp1, E3B1
MMRRC Submission 040634-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.753) question?
Stock # R3416 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 22830085-22930207 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 22930014 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 22 (S22G)
Ref Sequence ENSEMBL: ENSMUSP00000088957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078977] [ENSMUST00000091394] [ENSMUST00000093171] [ENSMUST00000114544] [ENSMUST00000123948] [ENSMUST00000126112] [ENSMUST00000178908] [ENSMUST00000139038] [ENSMUST00000140164] [ENSMUST00000149719] [ENSMUST00000153931]
AlphaFold Q8CBW3
Predicted Effect probably damaging
Transcript: ENSMUST00000078977
AA Change: S22G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000077997
Gene: ENSMUSG00000058835
AA Change: S22G

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 damaging
Transcript: ENSMUST00000091394
AA Change: S22G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000088957
Gene: ENSMUSG00000058835
AA Change: S22G

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 damaging
Transcript: ENSMUST00000093171
AA Change: S22G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000090860
Gene: ENSMUSG00000058835
AA Change: S22G

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 damaging
Transcript: ENSMUST00000114544
AA Change: S22G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110191
Gene: ENSMUSG00000058835
AA Change: S22G

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 damaging
Transcript: ENSMUST00000123948
AA Change: S22G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118491
Gene: ENSMUSG00000058835
AA Change: S22G

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 damaging
Transcript: ENSMUST00000126112
AA Change: S22G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117335
Gene: ENSMUSG00000058835
AA Change: S22G

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 possibly damaging
Transcript: ENSMUST00000178908
AA Change: S22G

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000136846
Gene: ENSMUSG00000058835
AA Change: S22G

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 damaging
Transcript: ENSMUST00000139038
AA Change: S22G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000116093
Gene: ENSMUSG00000058835
AA Change: S22G

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 damaging
Transcript: ENSMUST00000140164
AA Change: S22G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120462
Gene: ENSMUSG00000058835
AA Change: S22G

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 damaging
Transcript: ENSMUST00000149719
AA Change: S22G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120621
Gene: ENSMUSG00000058835
AA Change: S22G

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 possibly damaging
Transcript: ENSMUST00000153931
AA Change: S22G

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000120769
Gene: ENSMUSG00000058835
AA Change: S22G

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
Meta Mutation Damage Score 0.1190 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 100% (33/33)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500009L16Rik T C 10: 83,595,496 (GRCm39) probably null Het
Adgrl2 T C 3: 148,564,965 (GRCm39) Y201C probably damaging Het
Adnp2 T C 18: 80,171,373 (GRCm39) E1012G possibly damaging Het
Azin1 A T 15: 38,493,790 (GRCm39) S278T possibly damaging Het
Crocc G A 4: 140,773,758 (GRCm39) T103I possibly damaging Het
Cyb561d2 A G 9: 107,417,325 (GRCm39) L142P probably damaging Het
Cyp4f39 T C 17: 32,708,716 (GRCm39) V421A possibly damaging Het
Fryl T C 5: 73,265,417 (GRCm39) Q510R possibly damaging Het
Gfra1 T C 19: 58,255,544 (GRCm39) Y301C probably damaging Het
Igsf9b G A 9: 27,220,774 (GRCm39) V47I possibly damaging Het
Klhl42 G A 6: 147,009,378 (GRCm39) V406M probably damaging Het
Mfsd13a C T 19: 46,360,431 (GRCm39) R328C probably damaging Het
Mycs C T X: 5,380,810 (GRCm39) S90N possibly damaging Het
Or5p80 G A 7: 108,229,225 (GRCm39) V9I possibly damaging Het
Pcdha8 A T 18: 37,125,683 (GRCm39) Q55L probably benign Het
Pkhd1l1 A G 15: 44,410,760 (GRCm39) T2756A probably damaging Het
Prl8a8 A T 13: 27,695,532 (GRCm39) C71S probably damaging Het
Ralgapa1 T A 12: 55,817,398 (GRCm39) probably benign Het
Rtl4 C T X: 143,902,901 (GRCm39) Q108* probably null Het
Scn4a A T 11: 106,221,239 (GRCm39) S807T probably benign Het
Sla2 G A 2: 156,717,862 (GRCm39) R137C probably damaging Het
Smg1 G C 7: 117,748,076 (GRCm39) probably benign Het
Spata1 A T 3: 146,193,263 (GRCm39) probably benign Het
Strbp C G 2: 37,480,737 (GRCm39) R610T possibly damaging Het
Susd5 A G 9: 113,924,726 (GRCm39) D203G possibly damaging Het
Tas2r124 A T 6: 132,732,601 (GRCm39) R303S probably benign Het
Tgm3 G A 2: 129,889,692 (GRCm39) V629M possibly damaging Het
Tha1 T C 11: 117,764,026 (GRCm39) D67G possibly damaging Het
Vmn2r120 T A 17: 57,816,241 (GRCm39) I705F possibly damaging Het
Vrk3 C T 7: 44,424,866 (GRCm39) T427M probably benign Het
Zan T A 5: 137,433,982 (GRCm39) E2250D unknown Het
Zfp560 A T 9: 20,258,974 (GRCm39) Y629* probably null Het
Zftraf1 A T 15: 76,542,915 (GRCm39) 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
IGL02189:Abi1 APN 2 22,930,076 (GRCm39) start codon destroyed probably null 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TTTCTCAAGGCGGCCACTTC -3'
(R):5'- TTCTCGCGAGAAAGTGAGCC -3'

Sequencing Primer
(F):5'- AAGGCGGCCACTTCCTGTATC -3'
(R):5'- GGAGGTGCAGTCCCACAATAC -3'
Posted On 2015-02-18