Incidental Mutation 'IGL02028:Abi2'
ID 184241
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abi2
Ensembl Gene ENSMUSG00000026782
Gene Name abl interactor 2
Synonyms 8430425M24Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02028
Quality Score
Status
Chromosome 1
Chromosomal Location 60448778-60520317 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 60473442 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 53 (Y53C)
Ref Sequence ENSEMBL: ENSMUSP00000141068 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052332] [ENSMUST00000185788] [ENSMUST00000186097] [ENSMUST00000187709] [ENSMUST00000188594] [ENSMUST00000188618] [ENSMUST00000189980] [ENSMUST00000189082] [ENSMUST00000190158]
AlphaFold P62484
Predicted Effect probably damaging
Transcript: ENSMUST00000052332
AA Change: Y53C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058754
Gene: ENSMUSG00000026782
AA Change: Y53C

DomainStartEndE-ValueType
Pfam:Abi_HHR 93 168 1.1e-37 PFAM
low complexity region 236 262 N/A INTRINSIC
low complexity region 335 370 N/A INTRINSIC
SH3 387 442 5.55e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000185788
SMART Domains Protein: ENSMUSP00000139483
Gene: ENSMUSG00000026782

DomainStartEndE-ValueType
Pfam:Abi_HHR 1 67 4.4e-25 PFAM
low complexity region 68 81 N/A INTRINSIC
low complexity region 83 115 N/A INTRINSIC
low complexity region 119 137 N/A INTRINSIC
low complexity region 249 284 N/A INTRINSIC
SH3 301 356 3.4e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000186097
SMART Domains Protein: ENSMUSP00000139501
Gene: ENSMUSG00000026782

DomainStartEndE-ValueType
low complexity region 25 38 N/A INTRINSIC
low complexity region 95 121 N/A INTRINSIC
low complexity region 125 143 N/A INTRINSIC
low complexity region 284 319 N/A INTRINSIC
SH3 336 391 3.4e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000187400
Predicted Effect probably damaging
Transcript: ENSMUST00000187709
AA Change: Y53C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139867
Gene: ENSMUSG00000026782
AA Change: Y53C

DomainStartEndE-ValueType
Pfam:Abi_HHR 93 165 1.8e-33 PFAM
low complexity region 166 179 N/A INTRINSIC
low complexity region 236 262 N/A INTRINSIC
low complexity region 364 399 N/A INTRINSIC
SH3 416 471 3.4e-26 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000188594
AA Change: Y53C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140750
Gene: ENSMUSG00000026782
AA Change: Y53C

DomainStartEndE-ValueType
Pfam:Abi_HHR 93 165 1.7e-33 PFAM
low complexity region 166 179 N/A INTRINSIC
low complexity region 181 213 N/A INTRINSIC
low complexity region 217 235 N/A INTRINSIC
low complexity region 347 382 N/A INTRINSIC
SH3 399 454 3.4e-26 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000188618
AA Change: Y53C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140274
Gene: ENSMUSG00000026782
AA Change: Y53C

DomainStartEndE-ValueType
Pfam:Abi_HHR 93 171 5.1e-37 PFAM
low complexity region 172 185 N/A INTRINSIC
low complexity region 242 268 N/A INTRINSIC
low complexity region 272 290 N/A INTRINSIC
low complexity region 402 437 N/A INTRINSIC
SH3 454 487 2.29e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000189980
AA Change: Y53C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141068
Gene: ENSMUSG00000026782
AA Change: Y53C

DomainStartEndE-ValueType
Pfam:Abi_HHR 93 171 5e-37 PFAM
low complexity region 172 185 N/A INTRINSIC
low complexity region 242 268 N/A INTRINSIC
low complexity region 369 404 N/A INTRINSIC
SH3 421 476 5.55e-24 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191493
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189649
Predicted Effect probably benign
Transcript: ENSMUST00000189082
SMART Domains Protein: ENSMUSP00000140522
Gene: ENSMUSG00000026782

DomainStartEndE-ValueType
Pfam:Abi_HHR 38 115 5.8e-34 PFAM
low complexity region 116 129 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000190158
SMART Domains Protein: ENSMUSP00000139743
Gene: ENSMUSG00000026782

DomainStartEndE-ValueType
low complexity region 18 31 N/A INTRINSIC
low complexity region 33 65 N/A INTRINSIC
low complexity region 69 87 N/A INTRINSIC
PDB:4N78|F 88 196 5e-62 PDB
low complexity region 226 261 N/A INTRINSIC
SH3 278 333 3.4e-26 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice display microphthalmia, abnormal lens development, abnormal corpus callosum, cerebral cortex, and hippocampus morphology, and impaired contextual conditioning. [provided by MGI curators]
Allele List at MGI

All alleles(30) : Targeted, knock-out(1) Targeted, other(2) Gene trapped(27)

Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb T A 5: 114,304,076 (GRCm39) D166E probably damaging Het
Akap8l T C 17: 32,557,495 (GRCm39) probably null Het
Arl6ip5 A G 6: 97,206,611 (GRCm39) Y97C probably damaging Het
Atad5 T A 11: 80,024,936 (GRCm39) S1772R probably benign Het
Ccdc106 A G 7: 5,062,645 (GRCm39) Q155R probably damaging Het
Ccdc33 T C 9: 57,983,861 (GRCm39) N446S probably benign Het
Cdh2 T C 18: 16,783,477 (GRCm39) D84G probably benign Het
Cntn6 A G 6: 104,836,387 (GRCm39) K918E probably damaging Het
Dock6 T C 9: 21,750,122 (GRCm39) D521G probably damaging Het
Dync2i1 C A 12: 116,219,681 (GRCm39) R87L probably benign Het
Etv6 C T 6: 134,225,696 (GRCm39) A309V probably benign Het
Ezh1 G T 11: 101,090,166 (GRCm39) H529Q probably damaging Het
Figla T C 6: 85,994,345 (GRCm39) L40P probably damaging Het
Gabra4 T A 5: 71,790,939 (GRCm39) Q301L probably damaging Het
Glt1d1 G A 5: 127,783,984 (GRCm39) V313M possibly damaging Het
Gm28778 T A 1: 53,357,120 (GRCm39) I94K possibly damaging Het
Gm4847 T C 1: 166,469,765 (GRCm39) K103E probably benign Het
Gne A G 4: 44,066,852 (GRCm39) S23P probably damaging Het
Hipk2 A G 6: 38,795,691 (GRCm39) C186R possibly damaging Het
Lrp1b C T 2: 41,401,464 (GRCm39) V283I probably damaging Het
Mcm10 A T 2: 5,013,511 (GRCm39) D40E possibly damaging Het
Morc2b T A 17: 33,356,387 (GRCm39) I462F possibly damaging Het
Myh1 T A 11: 67,101,441 (GRCm39) I711N probably damaging Het
Oit3 A G 10: 59,274,477 (GRCm39) F108L probably damaging Het
Or4f4b T C 2: 111,313,816 (GRCm39) F14L probably benign Het
Or8b49 T A 9: 38,505,715 (GRCm39) L66* probably null Het
Polr1g T C 7: 19,091,003 (GRCm39) K368R probably damaging Het
Rbm19 A G 5: 120,258,301 (GRCm39) D172G probably damaging Het
Ribc2 A G 15: 85,027,536 (GRCm39) D339G possibly damaging Het
Rras2 C A 7: 113,659,597 (GRCm39) V56L probably benign Het
Scn2a A G 2: 65,594,002 (GRCm39) E1617G probably damaging Het
Slc13a1 T A 6: 24,118,030 (GRCm39) M236L probably benign Het
Snrnp27 C T 6: 86,659,955 (GRCm39) R13H unknown Het
Srgap2 T C 1: 131,224,173 (GRCm39) K92E probably damaging Het
Suco T C 1: 161,684,428 (GRCm39) K231E possibly damaging Het
Tll2 C A 19: 41,087,088 (GRCm39) E588* probably null Het
Tmem215 A T 4: 40,473,940 (GRCm39) I6L possibly damaging Het
Tnc A C 4: 63,884,909 (GRCm39) probably benign Het
Tob1 G A 11: 94,105,052 (GRCm39) G196D probably benign Het
Ubtfl1 T A 9: 18,320,849 (GRCm39) Y126N possibly damaging Het
Uck1 G T 2: 32,148,149 (GRCm39) Q192K probably damaging Het
Vdac3-ps1 A G 13: 18,205,469 (GRCm39) noncoding transcript Het
Vmn1r88 C T 7: 12,911,719 (GRCm39) S25L probably benign Het
Vmn2r109 T G 17: 20,761,342 (GRCm39) I672L probably benign Het
Vmn2r23 T C 6: 123,718,819 (GRCm39) F724S probably damaging Het
Vmn2r54 A T 7: 12,366,088 (GRCm39) F282Y probably damaging Het
Vmn2r82 A T 10: 79,215,057 (GRCm39) I347F probably benign Het
Wasf2 G A 4: 132,923,112 (GRCm39) R474H probably damaging Het
Zmym5 T C 14: 57,041,617 (GRCm39) H162R possibly damaging Het
Other mutations in Abi2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01097:Abi2 APN 1 60,486,505 (GRCm39) missense probably damaging 1.00
IGL01369:Abi2 APN 1 60,476,215 (GRCm39) missense probably damaging 1.00
IGL02074:Abi2 APN 1 60,486,466 (GRCm39) missense probably damaging 1.00
IGL02897:Abi2 APN 1 60,487,353 (GRCm39) missense probably damaging 0.96
IGL02957:Abi2 APN 1 60,509,945 (GRCm39) missense probably damaging 1.00
1mM(1):Abi2 UTSW 1 60,476,216 (GRCm39) missense probably damaging 1.00
P0026:Abi2 UTSW 1 60,492,882 (GRCm39) missense probably benign 0.42
R0062:Abi2 UTSW 1 60,492,884 (GRCm39) missense probably benign 0.42
R0062:Abi2 UTSW 1 60,492,884 (GRCm39) missense probably benign 0.42
R3946:Abi2 UTSW 1 60,492,913 (GRCm39) missense probably damaging 1.00
R4793:Abi2 UTSW 1 60,448,963 (GRCm39) start codon destroyed probably null 1.00
R5110:Abi2 UTSW 1 60,489,280 (GRCm39) missense probably benign 0.00
R5557:Abi2 UTSW 1 60,478,071 (GRCm39) unclassified probably benign
R6037:Abi2 UTSW 1 60,503,738 (GRCm39) missense probably damaging 1.00
R6037:Abi2 UTSW 1 60,503,738 (GRCm39) missense probably damaging 1.00
R6368:Abi2 UTSW 1 60,492,810 (GRCm39) missense possibly damaging 0.82
R6481:Abi2 UTSW 1 60,478,098 (GRCm39) splice site probably null
R7393:Abi2 UTSW 1 60,473,541 (GRCm39) missense possibly damaging 0.92
R7460:Abi2 UTSW 1 60,473,466 (GRCm39) missense probably damaging 1.00
R7573:Abi2 UTSW 1 60,509,867 (GRCm39) missense probably benign 0.37
R7744:Abi2 UTSW 1 60,476,362 (GRCm39) missense probably benign 0.00
R8843:Abi2 UTSW 1 60,492,888 (GRCm39) missense probably null
R8988:Abi2 UTSW 1 60,489,251 (GRCm39) missense probably benign 0.08
R9464:Abi2 UTSW 1 60,478,100 (GRCm39) critical splice acceptor site probably null
R9528:Abi2 UTSW 1 60,473,453 (GRCm39) missense probably damaging 0.99
R9569:Abi2 UTSW 1 60,503,763 (GRCm39) missense probably damaging 0.97
R9576:Abi2 UTSW 1 60,449,008 (GRCm39) missense possibly damaging 0.68
Z1177:Abi2 UTSW 1 60,476,324 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07