Incidental Mutation 'R8891:Abi1'
ID 677667
Institutional Source Beutler Lab
Gene Symbol Abi1
Ensembl Gene ENSMUSG00000058835
Gene Name abl interactor 1
Synonyms Ssh3bp1, E3B1
MMRRC Submission 068753-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.753) question?
Stock # R8891 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 22830085-22930207 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 22861262 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 99 (I99V)
Ref Sequence ENSEMBL: ENSMUSP00000118491 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078977] [ENSMUST00000091394] [ENSMUST00000093171] [ENSMUST00000114544] [ENSMUST00000123948] [ENSMUST00000126112] [ENSMUST00000139038] [ENSMUST00000140164] [ENSMUST00000149719] [ENSMUST00000153931] [ENSMUST00000178908]
AlphaFold Q8CBW3
Predicted Effect probably damaging
Transcript: ENSMUST00000078977
AA Change: I99V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000077997
Gene: ENSMUSG00000058835
AA Change: I99V

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: I99V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000088957
Gene: ENSMUSG00000058835
AA Change: I99V

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 possibly damaging
Transcript: ENSMUST00000093171
AA Change: I99V

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000090860
Gene: ENSMUSG00000058835
AA Change: I99V

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 possibly damaging
Transcript: ENSMUST00000114544
AA Change: I99V

PolyPhen 2 Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000110191
Gene: ENSMUSG00000058835
AA Change: I99V

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: I99V

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000118491
Gene: ENSMUSG00000058835
AA Change: I99V

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 possibly damaging
Transcript: ENSMUST00000126112
AA Change: I99V

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000117335
Gene: ENSMUSG00000058835
AA Change: I99V

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 damaging
Transcript: ENSMUST00000139038
AA Change: I99V

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000116093
Gene: ENSMUSG00000058835
AA Change: I99V

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 possibly damaging
Transcript: ENSMUST00000140164
AA Change: I99V

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000120462
Gene: ENSMUSG00000058835
AA Change: I99V

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 possibly damaging
Transcript: ENSMUST00000149719
AA Change: I99V

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000120621
Gene: ENSMUSG00000058835
AA Change: I99V

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: I99V

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000120769
Gene: ENSMUSG00000058835
AA Change: I99V

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 damaging
Transcript: ENSMUST00000178908
AA Change: I99V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000136846
Gene: ENSMUSG00000058835
AA Change: I99V

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: 99.4%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A T 3: 137,772,520 (GRCm39) K570* probably null Het
Abtb3 G A 10: 85,223,958 (GRCm39) G256R unknown Het
Adgrg7 T A 16: 56,572,762 (GRCm39) E351D probably benign Het
Ankrd34c T G 9: 89,612,143 (GRCm39) K66T probably damaging Het
Asap2 C T 12: 21,162,144 (GRCm39) R34W probably damaging Het
Atr A G 9: 95,787,813 (GRCm39) T1469A probably benign Het
Ccdc168 T C 1: 44,096,284 (GRCm39) I1605V probably benign Het
Celsr1 G T 15: 85,822,194 (GRCm39) R1708S probably benign Het
Chmp2a T A 7: 12,767,840 (GRCm39) E28D probably benign Het
Cldn24 A T 8: 48,275,281 (GRCm39) N35I probably benign Het
Coa6 G C 8: 127,149,570 (GRCm39) probably null Het
Copa C T 1: 171,946,818 (GRCm39) R1009C probably damaging Het
Crybb2 G A 5: 113,209,913 (GRCm39) T150M possibly damaging Het
Ctnnd2 A T 15: 30,620,076 (GRCm39) T143S probably benign Het
Eid3 A G 10: 82,702,992 (GRCm39) N151S probably damaging Het
Fbxo17 G T 7: 28,434,733 (GRCm39) V173L possibly damaging Het
Fmn2 CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC 1: 174,436,769 (GRCm39) probably benign Het
Galntl6 T C 8: 58,415,433 (GRCm39) N240S probably damaging Het
Gck G T 11: 5,851,733 (GRCm39) S445R probably damaging Het
Gm5114 C A 7: 39,057,718 (GRCm39) V634F probably benign Het
Gnat2 G A 3: 108,005,634 (GRCm39) D200N Het
H13 A G 2: 152,546,049 (GRCm39) N390S probably benign Het
Helz T A 11: 107,552,842 (GRCm39) M1206K probably damaging Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Kank1 G A 19: 25,387,439 (GRCm39) G371R probably benign Het
Kif13b A G 14: 64,982,326 (GRCm39) T513A probably damaging Het
L3mbtl4 T C 17: 68,762,781 (GRCm39) S105P possibly damaging Het
Lpo T A 11: 87,697,848 (GRCm39) E653V probably benign Het
Lyst A G 13: 13,887,435 (GRCm39) D3088G possibly damaging Het
Man2b1 C A 8: 85,811,084 (GRCm39) H72N probably damaging Het
Mast3 A T 8: 71,233,801 (GRCm39) H981Q probably damaging Het
Meioc T A 11: 102,559,246 (GRCm39) I56N probably benign Het
Mul1 A C 4: 138,162,164 (GRCm39) K32Q probably benign Het
Oas1c C T 5: 120,946,126 (GRCm39) S124N probably benign Het
Omg T A 11: 79,393,829 (GRCm39) K10* probably null Het
Or2a52 A G 6: 43,144,750 (GRCm39) I253V probably benign Het
Or4k52 A T 2: 111,611,186 (GRCm39) I174F probably damaging Het
Or6c88 A G 10: 129,407,046 (GRCm39) H174R probably damaging Het
Pcdhb14 T A 18: 37,582,692 (GRCm39) N599K probably damaging Het
Pcdhb18 C A 18: 37,623,700 (GRCm39) N343K probably damaging Het
Phf7 C A 14: 30,971,613 (GRCm39) probably benign Het
Pramel15 C T 4: 144,099,397 (GRCm39) C456Y probably damaging Het
Qdpr T C 5: 45,604,982 (GRCm39) N42S probably damaging Het
Rbm44 T A 1: 91,090,136 (GRCm39) D716E probably benign Het
Rprd2 A C 3: 95,671,367 (GRCm39) H1345Q possibly damaging Het
Rsf1 G GACGGCGGCT 7: 97,229,116 (GRCm39) probably benign Het
Ryr2 G A 13: 11,814,768 (GRCm39) A668V probably damaging Het
Sag T A 1: 87,759,683 (GRCm39) L307Q probably damaging Het
Sash1 G A 10: 8,603,734 (GRCm39) P1106L probably damaging Het
Sec16b T A 1: 157,382,409 (GRCm39) I615N probably damaging Het
Sfi1 A ATCTTCCCAAAGCCAGTGC 11: 3,103,384 (GRCm39) probably benign Het
Slco1b2 T C 6: 141,628,993 (GRCm39) V600A probably benign Het
Sucnr1 A G 3: 59,994,263 (GRCm39) T264A probably benign Het
Tbx3 A G 5: 119,809,983 (GRCm39) probably benign Het
Tigd5 T C 15: 75,783,069 (GRCm39) V477A possibly damaging Het
Tle7 T A 8: 110,836,763 (GRCm39) S216R possibly damaging Het
Ttc17 G A 2: 94,192,764 (GRCm39) A89V probably damaging Het
Twsg1 A G 17: 66,255,657 (GRCm39) I39T Het
Zfp184 T C 13: 22,143,512 (GRCm39) F406S probably damaging Het
Zfp429 A T 13: 67,538,830 (GRCm39) C205S probably damaging Het
Zfp59 T A 7: 27,554,313 (GRCm39) D588E probably benign Het
Zfp64 A T 2: 168,797,083 (GRCm39) M1K 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
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
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'- TTAACTCCATGGCCCACATC -3'
(R):5'- CACATTCTAGGTCCCTAGGAAAC -3'

Sequencing Primer
(F):5'- CATCCAGAACTGTATAGTCGATAGG -3'
(R):5'- CTAGGTCCCTAGGAAACAGGTTTTC -3'
Posted On 2021-08-02