Incidental Mutation 'R9214:Abi1'
ID 699039
Institutional Source Beutler Lab
Gene Symbol Abi1
Ensembl Gene ENSMUSG00000058835
Gene Name abl interactor 1
Synonyms Ssh3bp1, E3B1
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.753) question?
Stock # R9214 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 22830085-22930207 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 22831989 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 447 (Y447*)
Ref Sequence ENSEMBL: ENSMUSP00000118491 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053729] [ENSMUST00000078977] [ENSMUST00000091394] [ENSMUST00000093171] [ENSMUST00000114544] [ENSMUST00000123948] [ENSMUST00000126112] [ENSMUST00000139038] [ENSMUST00000140164] [ENSMUST00000149229] [ENSMUST00000149719] [ENSMUST00000153931] [ENSMUST00000178908]
AlphaFold Q8CBW3
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 null
Transcript: ENSMUST00000078977
AA Change: Y418*
SMART Domains Protein: ENSMUSP00000077997
Gene: ENSMUSG00000058835
AA Change: Y418*

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: Y446*
SMART Domains Protein: ENSMUSP00000088957
Gene: ENSMUSG00000058835
AA Change: Y446*

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: Y417*
SMART Domains Protein: ENSMUSP00000090860
Gene: ENSMUSG00000058835
AA Change: Y417*

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: Y354*
SMART Domains Protein: ENSMUSP00000110191
Gene: ENSMUSG00000058835
AA Change: Y354*

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: Y447*
SMART Domains Protein: ENSMUSP00000118491
Gene: ENSMUSG00000058835
AA Change: Y447*

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: Y442*
SMART Domains Protein: ENSMUSP00000117335
Gene: ENSMUSG00000058835
AA Change: Y442*

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: Y388*
SMART Domains Protein: ENSMUSP00000116093
Gene: ENSMUSG00000058835
AA Change: Y388*

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: Y441*
SMART Domains Protein: ENSMUSP00000120462
Gene: ENSMUSG00000058835
AA Change: Y441*

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 benign
Transcript: ENSMUST00000149229
Predicted Effect probably null
Transcript: ENSMUST00000149719
AA Change: Y412*
SMART Domains Protein: ENSMUSP00000120621
Gene: ENSMUSG00000058835
AA Change: Y412*

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 probably null
Transcript: ENSMUST00000153931
AA Change: Y359*
SMART Domains Protein: ENSMUSP00000120769
Gene: ENSMUSG00000058835
AA Change: Y359*

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: ENSMUST00000178908
AA Change: Y447*
SMART Domains Protein: ENSMUSP00000136846
Gene: ENSMUSG00000058835
AA Change: Y447*

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (64/64)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik T C 9: 55,890,653 (GRCm39) D352G probably benign Het
Acot1 A G 12: 84,064,189 (GRCm39) Y124C Het
Adgrf4 T C 17: 42,978,704 (GRCm39) N213S possibly damaging Het
Alg9 T A 9: 50,717,545 (GRCm39) Y443N probably damaging Het
Bhlhe22 A G 3: 18,109,024 (GRCm39) T25A probably benign Het
Bpifa1 C A 2: 153,985,789 (GRCm39) P35T unknown Het
Btbd16 T C 7: 130,381,437 (GRCm39) probably null Het
Ccdc187 G T 2: 26,183,409 (GRCm39) T197K probably benign Het
Cd209b A G 8: 3,968,771 (GRCm39) V295A probably benign Het
Cdcp3 C T 7: 130,824,481 (GRCm39) S192L possibly damaging Het
Clrn2 G T 5: 45,617,518 (GRCm39) A130S probably benign Het
Cnrip1 A G 11: 17,004,740 (GRCm39) T97A probably damaging Het
Col15a1 G C 4: 47,288,200 (GRCm39) probably benign Het
Col6a5 T C 9: 105,758,940 (GRCm39) T2089A possibly damaging Het
Cyfip1 T A 7: 55,523,273 (GRCm39) probably null Het
Ddx1 A G 12: 13,286,119 (GRCm39) S278P probably benign Het
Dnah12 A C 14: 26,445,060 (GRCm39) E654D probably benign Het
Efcab7 T C 4: 99,735,437 (GRCm39) S154P probably damaging Het
Emcn T C 3: 137,047,029 (GRCm39) F10S probably damaging Het
Fhip2a A G 19: 57,373,756 (GRCm39) H672R probably damaging Het
Flg2 G T 3: 93,110,884 (GRCm39) A971S unknown Het
Gli2 A T 1: 118,795,791 (GRCm39) H121Q probably damaging Het
Gm3633 A G 14: 42,460,359 (GRCm39) probably benign Het
Golga2 T C 2: 32,195,822 (GRCm39) L846P probably damaging Het
Golga7b A T 19: 42,255,440 (GRCm39) I106F probably damaging Het
Hltf T C 3: 20,140,280 (GRCm39) S460P probably benign Het
Hyal5 A G 6: 24,876,403 (GRCm39) Y92C probably damaging Het
Kif19b G A 5: 140,468,257 (GRCm39) R649Q probably benign Het
Mapk1 T A 16: 16,853,549 (GRCm39) C84S probably benign Het
Marchf10 A G 11: 105,281,100 (GRCm39) V395A probably benign Het
Meltf A G 16: 31,697,763 (GRCm39) T7A probably benign Het
Mfhas1 T A 8: 36,057,730 (GRCm39) V735D probably damaging Het
Mia2 G T 12: 59,223,150 (GRCm39) R486L possibly damaging Het
Mmp20 T C 9: 7,628,327 (GRCm39) L25P probably benign Het
Mprip C T 11: 59,650,901 (GRCm39) T1535I possibly damaging Het
Mrpl9 T A 3: 94,355,126 (GRCm39) S233T possibly damaging Het
Muc21 T A 17: 35,931,838 (GRCm39) S783C unknown Het
Nckap5 A C 1: 125,942,376 (GRCm39) V1576G probably benign Het
Ntng1 T C 3: 109,841,921 (GRCm39) Y284C probably damaging Het
Numa1 T A 7: 101,650,139 (GRCm39) V1290D probably damaging Het
Or52l1 T G 7: 104,829,587 (GRCm39) Y326S probably benign Het
Pcdhgc4 A T 18: 37,950,264 (GRCm39) D560V probably damaging Het
Pla2g1b A G 5: 115,610,107 (GRCm39) K84E possibly damaging Het
Pramel16 T C 4: 143,675,750 (GRCm39) I359V probably benign Het
Prrt4 C T 6: 29,170,767 (GRCm39) A562T possibly damaging Het
Rab6a T C 7: 100,275,786 (GRCm39) F33S probably damaging Het
Rgs11 A G 17: 26,427,260 (GRCm39) Y397C probably damaging Het
Rnf43 A T 11: 87,622,111 (GRCm39) H277L probably benign Het
Ryr1 A G 7: 28,785,187 (GRCm39) S1842P possibly damaging Het
Slc25a34 C T 4: 141,350,641 (GRCm39) A123T probably damaging Het
Smoc2 A G 17: 14,556,839 (GRCm39) Y96C probably damaging Het
Sqle A G 15: 59,194,765 (GRCm39) E267G probably benign Het
Sspo G A 6: 48,440,869 (GRCm39) R1777H possibly damaging Het
Stx6 T A 1: 155,067,210 (GRCm39) N133K probably benign Het
Taf7l2 T C 10: 115,948,903 (GRCm39) T208A probably benign Het
Thoc5 A T 11: 4,864,303 (GRCm39) Q320L probably benign Het
Tmc4 G C 7: 3,670,497 (GRCm39) C531W probably damaging Het
Tmigd1 A G 11: 76,801,031 (GRCm39) T173A probably damaging Het
Tpp2 A C 1: 44,031,514 (GRCm39) M1111L probably benign Het
Ttc21a T C 9: 119,772,941 (GRCm39) V206A probably benign Het
Ulk1 A T 5: 110,936,663 (GRCm39) V758E possibly damaging Het
Vdr T A 15: 97,767,600 (GRCm39) H130L probably benign Het
Vps13b A G 15: 35,623,892 (GRCm39) T1270A probably damaging Het
Zc3h13 A G 14: 75,560,991 (GRCm39) D527G unknown Het
Zfp512 C T 5: 31,637,434 (GRCm39) R508W probably damaging Het
Zfp606 A G 7: 12,215,026 (GRCm39) T85A unknown 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
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
X0026:Abi1 UTSW 2 22,861,166 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CATGTCCTTGAAAATATGGGCAC -3'
(R):5'- TCAATGTGGTCAATATGTCGGG -3'

Sequencing Primer
(F):5'- ATCCCACAGTATGACGGAG -3'
(R):5'- GAGGCAGCAGCTGTACCTTTAATC -3'
Posted On 2022-02-07