Incidental Mutation 'R7249:Abi1'
ID 563731
Institutional Source Beutler Lab
Gene Symbol Abi1
Ensembl Gene ENSMUSG00000058835
Gene Name abl interactor 1
Synonyms Ssh3bp1, E3B1
MMRRC Submission 045312-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.753) question?
Stock # R7249 (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 22847101 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 250 (E250G)
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 possibly damaging
Transcript: ENSMUST00000078977
AA Change: E250G

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000077997
Gene: ENSMUSG00000058835
AA Change: E250G

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: E250G

PolyPhen 2 Score 0.374 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000088957
Gene: ENSMUSG00000058835
AA Change: E250G

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: E250G

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000090860
Gene: ENSMUSG00000058835
AA Change: E250G

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: E245G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000110191
Gene: ENSMUSG00000058835
AA Change: E245G

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 possibly damaging
Transcript: ENSMUST00000123948
AA Change: E250G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000118491
Gene: ENSMUSG00000058835
AA Change: E250G

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: E245G

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000117335
Gene: ENSMUSG00000058835
AA Change: E245G

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: E250G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000116093
Gene: ENSMUSG00000058835
AA Change: E250G

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: E245G

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000120462
Gene: ENSMUSG00000058835
AA Change: E245G

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: E245G

PolyPhen 2 Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000120621
Gene: ENSMUSG00000058835
AA Change: E245G

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 damaging
Transcript: ENSMUST00000153931
AA Change: E250G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000120769
Gene: ENSMUSG00000058835
AA Change: E250G

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 possibly damaging
Transcript: ENSMUST00000178908
AA Change: E250G

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000136846
Gene: ENSMUSG00000058835
AA Change: E250G

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: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik T C 8: 79,974,970 (GRCm39) T38A probably benign Het
3425401B19Rik G T 14: 32,385,271 (GRCm39) S231R possibly damaging Het
Actl6b T A 5: 137,553,347 (GRCm39) S120T probably damaging Het
Adgrv1 G A 13: 81,522,378 (GRCm39) H5920Y probably damaging Het
Adra2c G A 5: 35,438,299 (GRCm39) R357H probably damaging Het
Ap3d1 T C 10: 80,577,767 (GRCm39) D20G probably damaging Het
Arfgef3 A T 10: 18,506,583 (GRCm39) D847E possibly damaging Het
Cacna1d T C 14: 29,864,660 (GRCm39) E434G probably damaging Het
Carm1 T C 9: 21,497,505 (GRCm39) Y356H probably benign Het
Clip1 T C 5: 123,741,663 (GRCm39) K1075R probably damaging Het
Cyp27b1 G T 10: 126,886,918 (GRCm39) probably null Het
D630045J12Rik A T 6: 38,113,885 (GRCm39) V1769D possibly damaging Het
Dchs2 C T 3: 83,035,336 (GRCm39) Q28* probably null Het
Dpp4 A G 2: 62,215,547 (GRCm39) F107L probably benign Het
Eln AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC 5: 134,739,935 (GRCm39) probably benign Het
Faap24 A G 7: 35,094,485 (GRCm39) V105A probably benign Het
Gabra6 A T 11: 42,208,259 (GRCm39) D166E probably damaging Het
Gfpt1 A G 6: 87,033,126 (GRCm39) E117G probably damaging Het
H2-T10 T C 17: 36,430,269 (GRCm39) D224G probably damaging Het
Hspa12a T A 19: 58,793,865 (GRCm39) E332V probably benign Het
Htr5b T A 1: 121,438,203 (GRCm39) N343Y probably damaging Het
Irf8 C A 8: 121,466,571 (GRCm39) N5K possibly damaging Het
Itgb1 C A 8: 129,446,885 (GRCm39) Q467K probably benign Het
Itpr2 C A 6: 146,212,550 (GRCm39) C1522F probably damaging Het
Jmjd1c T A 10: 67,025,596 (GRCm39) L138I probably benign Het
Lrrc8b G T 5: 105,629,133 (GRCm39) R493L probably benign Het
Malrd1 G T 2: 15,628,151 (GRCm39) C400F probably damaging Het
Marchf8 G A 6: 116,383,195 (GRCm39) E257K probably benign Het
Mastl G A 2: 23,036,151 (GRCm39) H122Y probably damaging Het
Mis18a T C 16: 90,523,202 (GRCm39) K98R possibly damaging Het
Msra A G 14: 64,678,212 (GRCm39) V28A probably benign Het
Mtmr7 A G 8: 41,043,520 (GRCm39) V177A probably benign Het
Nelfcd T C 2: 174,264,999 (GRCm39) probably null Het
Nemp1 T C 10: 127,529,395 (GRCm39) S226P probably damaging Het
Nmnat1 G A 4: 149,554,099 (GRCm39) T147I probably null Het
Ntng2 A G 2: 29,118,004 (GRCm39) V148A probably benign Het
Nup214 A G 2: 31,878,245 (GRCm39) H304R possibly damaging Het
Or4a2 T C 2: 89,248,217 (GRCm39) Y180C probably damaging Het
Phldb2 C A 16: 45,621,977 (GRCm39) A623S probably damaging Het
Pitrm1 C T 13: 6,610,161 (GRCm39) T411I probably damaging Het
Pkn3 G A 2: 29,974,773 (GRCm39) R429Q probably benign Het
Plcb4 A G 2: 135,849,741 (GRCm39) probably null Het
Pmpca G C 2: 26,285,046 (GRCm39) E424Q possibly damaging Het
Pnp G A 14: 51,188,887 (GRCm39) V227I probably benign Het
Pskh1 T C 8: 106,639,886 (GRCm39) S189P possibly damaging Het
Rbpms2 T G 9: 65,556,632 (GRCm39) V24G probably damaging Het
Robo3 T A 9: 37,336,129 (GRCm39) I446L probably benign Het
Septin8 A T 11: 53,425,949 (GRCm39) K174I probably damaging Het
Shank1 C T 7: 43,976,585 (GRCm39) A561V unknown Het
Slco4a1 A G 2: 180,106,604 (GRCm39) Y262C probably benign Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Spidr T C 16: 15,784,512 (GRCm39) S519G probably benign Het
Ssx2ip A G 3: 146,132,193 (GRCm39) N218S possibly damaging Het
Svil T C 18: 5,056,270 (GRCm39) V381A probably benign Het
Svil T C 18: 5,062,247 (GRCm39) S769P probably damaging Het
Tep1 A T 14: 51,061,732 (GRCm39) C2595S possibly damaging Het
Tiam1 T C 16: 89,640,143 (GRCm39) Y858C probably damaging Het
Tie1 A G 4: 118,343,425 (GRCm39) V146A probably benign Het
Traf3ip1 G T 1: 91,455,361 (GRCm39) E578D probably damaging Het
Trim23 A G 13: 104,324,663 (GRCm39) Y247C probably damaging Het
Tsc2 A G 17: 24,826,729 (GRCm39) W896R probably damaging Het
Vmn1r157 T C 7: 22,461,125 (GRCm39) S2P probably benign Het
Xkr4 T A 1: 3,287,033 (GRCm39) T386S probably damaging Het
Zdhhc24 T G 19: 4,928,889 (GRCm39) V38G possibly damaging 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
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'- CTGCCTTTATTATAGCAATAGCCAC -3'
(R):5'- GTCACAGCAGGCTTGAAATAGAC -3'

Sequencing Primer
(F):5'- GTGAAGCTGAGGGTACTAAC -3'
(R):5'- GAGTATTTAGTAGCTCCAGTTT -3'
Posted On 2019-06-26