Incidental Mutation 'IGL02028:Abi2'
ID184241
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abi2
Ensembl Gene ENSMUSG00000026782
Gene Nameabl-interactor 2
Synonyms8430425M24Rik
Accession Numbers

Genbank: NM_001198570.1, NM_001198571.1, NM_198127.2; Ensembl: ENSMUST00000052332, ENSMUST00000087417

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02028
Quality Score
Status
Chromosome1
Chromosomal Location60409619-60481158 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 60434283 bp
ZygosityHeterozygous
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] [ENSMUST00000189082] [ENSMUST00000189980] [ENSMUST00000190158]
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 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 noncoding transcript
Transcript: ENSMUST00000189649
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 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191493
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: 114,166,015 D166E probably damaging Het
Akap8l T C 17: 32,338,521 probably null Het
Arl6ip5 A G 6: 97,229,650 Y97C probably damaging Het
Atad5 T A 11: 80,134,110 S1772R probably benign Het
Ccdc106 A G 7: 5,059,646 Q155R probably damaging Het
Ccdc33 T C 9: 58,076,578 N446S probably benign Het
Cd3eap T C 7: 19,357,078 K368R probably damaging Het
Cdh2 T C 18: 16,650,420 D84G probably benign Het
Cntn6 A G 6: 104,859,426 K918E probably damaging Het
Dock6 T C 9: 21,838,826 D521G probably damaging Het
Etv6 C T 6: 134,248,733 A309V probably benign Het
Ezh1 G T 11: 101,199,340 H529Q probably damaging Het
Figla T C 6: 86,017,363 L40P probably damaging Het
Gabra4 T A 5: 71,633,596 Q301L probably damaging Het
Glt1d1 G A 5: 127,706,920 V313M possibly damaging Het
Gm28778 T A 1: 53,317,961 I94K possibly damaging Het
Gm4847 T C 1: 166,642,196 K103E probably benign Het
Gne A G 4: 44,066,852 S23P probably damaging Het
Hipk2 A G 6: 38,818,756 C186R possibly damaging Het
Lrp1b C T 2: 41,511,452 V283I probably damaging Het
Mcm10 A T 2: 5,008,700 D40E possibly damaging Het
Morc2b T A 17: 33,137,413 I462F possibly damaging Het
Myh1 T A 11: 67,210,615 I711N probably damaging Het
Oit3 A G 10: 59,438,655 F108L probably damaging Het
Olfr1289 T C 2: 111,483,471 F14L probably benign Het
Olfr913 T A 9: 38,594,419 L66* probably null Het
Rbm19 A G 5: 120,120,236 D172G probably damaging Het
Ribc2 A G 15: 85,143,335 D339G possibly damaging Het
Rras2 C A 7: 114,060,362 V56L probably benign Het
Scn2a A G 2: 65,763,658 E1617G probably damaging Het
Slc13a1 T A 6: 24,118,031 M236L probably benign Het
Snrnp27 C T 6: 86,682,973 R13H unknown Het
Srgap2 T C 1: 131,296,435 K92E probably damaging Het
Suco T C 1: 161,856,859 K231E possibly damaging Het
Tll2 C A 19: 41,098,649 E588* probably null Het
Tmem215 A T 4: 40,473,940 I6L possibly damaging Het
Tnc A C 4: 63,966,672 probably benign Het
Tob1 G A 11: 94,214,226 G196D probably benign Het
Ubtfl1 T A 9: 18,409,553 Y126N possibly damaging Het
Uck1 G T 2: 32,258,137 Q192K probably damaging Het
Vdac3-ps1 A G 13: 18,030,884 noncoding transcript Het
Vmn1r88 C T 7: 13,177,792 S25L probably benign Het
Vmn2r109 T G 17: 20,541,080 I672L probably benign Het
Vmn2r23 T C 6: 123,741,860 F724S probably damaging Het
Vmn2r54 A T 7: 12,632,161 F282Y probably damaging Het
Vmn2r82 A T 10: 79,379,223 I347F probably benign Het
Wasf2 G A 4: 133,195,801 R474H probably damaging Het
Wdr60 C A 12: 116,256,061 R87L probably benign Het
Zmym5 T C 14: 56,804,160 H162R possibly damaging Het
Other mutations in Abi2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01097:Abi2 APN 1 60447346 missense probably damaging 1.00
IGL01369:Abi2 APN 1 60437056 missense probably damaging 1.00
IGL02074:Abi2 APN 1 60447307 missense probably damaging 1.00
IGL02897:Abi2 APN 1 60448194 missense probably damaging 0.96
IGL02957:Abi2 APN 1 60470786 missense probably damaging 1.00
1mM(1):Abi2 UTSW 1 60437057 missense probably damaging 1.00
P0026:Abi2 UTSW 1 60453723 missense probably benign 0.42
R0062:Abi2 UTSW 1 60453725 missense probably benign 0.42
R0062:Abi2 UTSW 1 60453725 missense probably benign 0.42
R3946:Abi2 UTSW 1 60453754 missense probably damaging 1.00
R4793:Abi2 UTSW 1 60409804 start codon destroyed probably null 1.00
R5110:Abi2 UTSW 1 60450121 missense probably benign 0.00
R5557:Abi2 UTSW 1 60438912 unclassified probably benign
R6037:Abi2 UTSW 1 60464579 missense probably damaging 1.00
R6037:Abi2 UTSW 1 60464579 missense probably damaging 1.00
R6368:Abi2 UTSW 1 60453651 missense possibly damaging 0.82
R6481:Abi2 UTSW 1 60438939 unclassified probably null
R7393:Abi2 UTSW 1 60434382 missense possibly damaging 0.92
R7460:Abi2 UTSW 1 60434307 missense probably damaging 1.00
Posted On2014-05-07