Incidental Mutation 'IGL02086:Abi3bp'
ID 285489
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abi3bp
Ensembl Gene ENSMUSG00000035258
Gene Name ABI family member 3 binding protein
Synonyms D930038M13Rik, TARSH, 5033411B22Rik, eratin
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # IGL02086
Quality Score
Status
Chromosome 16
Chromosomal Location 56298241-56510498 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 56462930 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000156180 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048471] [ENSMUST00000096012] [ENSMUST00000096013] [ENSMUST00000171000] [ENSMUST00000231781] [ENSMUST00000231832] [ENSMUST00000231870]
AlphaFold A0A338P6S8
Predicted Effect probably benign
Transcript: ENSMUST00000048471
SMART Domains Protein: ENSMUSP00000036257
Gene: ENSMUSG00000035258

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
FN3 114 203 3.08e-2 SMART
low complexity region 433 446 N/A INTRINSIC
low complexity region 516 528 N/A INTRINSIC
low complexity region 579 591 N/A INTRINSIC
low complexity region 734 747 N/A INTRINSIC
low complexity region 751 764 N/A INTRINSIC
FN3 941 1024 6.29e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000096012
SMART Domains Protein: ENSMUSP00000093711
Gene: ENSMUSG00000035258

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
FN3 114 203 3.08e-2 SMART
low complexity region 433 446 N/A INTRINSIC
low complexity region 634 647 N/A INTRINSIC
low complexity region 651 664 N/A INTRINSIC
FN3 841 924 6.29e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000096013
SMART Domains Protein: ENSMUSP00000093712
Gene: ENSMUSG00000035258

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
FN3 114 203 3.08e-2 SMART
low complexity region 433 446 N/A INTRINSIC
low complexity region 670 683 N/A INTRINSIC
low complexity region 687 700 N/A INTRINSIC
FN3 877 960 6.29e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000171000
SMART Domains Protein: ENSMUSP00000128818
Gene: ENSMUSG00000035258

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
FN3 114 203 3.08e-2 SMART
low complexity region 464 477 N/A INTRINSIC
low complexity region 481 494 N/A INTRINSIC
FN3 671 754 6.29e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000231781
Predicted Effect probably benign
Transcript: ENSMUST00000231832
Predicted Effect probably benign
Transcript: ENSMUST00000231870
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930426L09Rik T C 2: 19,003,623 (GRCm39) probably benign Het
Asb4 T C 6: 5,398,386 (GRCm39) I117T probably benign Het
Birc6 T G 17: 74,946,822 (GRCm39) L2847R probably damaging Het
C2cd2 A G 16: 97,691,208 (GRCm39) probably benign Het
Ccdc77 C A 6: 120,316,119 (GRCm39) C186F possibly damaging Het
Cd300ld2 T A 11: 114,903,384 (GRCm39) probably benign Het
Cd55b A T 1: 130,345,919 (GRCm39) D166E probably benign Het
Cfap100 A G 6: 90,390,954 (GRCm39) F8L probably damaging Het
Col2a1 C T 15: 97,884,618 (GRCm39) probably null Het
Dbf4 A G 5: 8,453,189 (GRCm39) I270T probably benign Het
Dkk3 T C 7: 111,748,236 (GRCm39) S123G probably benign Het
Ep400 A G 5: 110,824,809 (GRCm39) probably benign Het
Fam184a A G 10: 53,575,351 (GRCm39) I30T probably damaging Het
Fam20a T C 11: 109,564,239 (GRCm39) I505V probably benign Het
Fbh1 T C 2: 11,768,938 (GRCm39) D285G probably benign Het
Fcho1 T C 8: 72,169,444 (GRCm39) E154G probably damaging Het
Klhdc1 A G 12: 69,329,958 (GRCm39) I362M probably benign Het
Knl1 A T 2: 118,931,255 (GRCm39) E1990D probably benign Het
Lancl2 A G 6: 57,711,024 (GRCm39) Y394C probably damaging Het
Lgi2 G A 5: 52,723,299 (GRCm39) S50F probably damaging Het
Map2k7 A G 8: 4,288,950 (GRCm39) E14G probably damaging Het
Mga A G 2: 119,754,517 (GRCm39) I1009V probably damaging Het
Nat9 C A 11: 115,074,234 (GRCm39) probably null Het
Nek2 G A 1: 191,563,401 (GRCm39) A422T probably benign Het
Nfkbiz A T 16: 55,636,034 (GRCm39) L509Q probably damaging Het
Or56b2 A T 7: 104,337,634 (GRCm39) R137S probably benign Het
Pgap1 T A 1: 54,587,147 (GRCm39) Q143L probably damaging Het
Pkd1l3 C T 8: 110,392,217 (GRCm39) T1937I probably damaging Het
Pou1f1 A G 16: 65,326,784 (GRCm39) E128G probably damaging Het
Ppfia3 T C 7: 44,989,996 (GRCm39) probably benign Het
Prkd1 T C 12: 50,434,046 (GRCm39) I566V probably benign Het
Psd2 A G 18: 36,138,959 (GRCm39) R528G probably damaging Het
Ptprg G T 14: 12,110,080 (GRCm38) E263* probably null Het
Radil T C 5: 142,529,576 (GRCm39) D40G probably benign Het
Ryr2 T A 13: 11,750,442 (GRCm39) Y1943F probably damaging Het
Slc30a4 C T 2: 122,543,947 (GRCm39) probably benign Het
Slc31a1 A T 4: 62,306,241 (GRCm39) T120S possibly damaging Het
Snrpe A G 1: 133,537,487 (GRCm39) probably benign Het
Stx3 G T 19: 11,796,046 (GRCm39) probably benign Het
Thoc2l A G 5: 104,666,867 (GRCm39) E463G possibly damaging Het
Ufsp1 T A 5: 137,293,178 (GRCm39) C43S probably damaging Het
Vac14 T A 8: 111,379,950 (GRCm39) M416K possibly damaging Het
Vmn1r81 A C 7: 11,993,792 (GRCm39) V272G possibly damaging Het
Vmn2r107 T A 17: 20,578,062 (GRCm39) I457K probably benign Het
Vmn2r72 A T 7: 85,387,374 (GRCm39) V730E probably benign Het
Vmn2r9 T C 5: 108,995,433 (GRCm39) Y405C probably damaging Het
Zcchc17 T C 4: 130,210,440 (GRCm39) *242W probably null Het
Zfp503 T C 14: 22,037,354 (GRCm39) K83R possibly damaging Het
Other mutations in Abi3bp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00780:Abi3bp APN 16 56,423,168 (GRCm39) missense probably null 0.99
IGL01580:Abi3bp APN 16 56,495,573 (GRCm39) missense probably damaging 1.00
IGL01633:Abi3bp APN 16 56,498,163 (GRCm39) missense probably damaging 1.00
IGL01783:Abi3bp APN 16 56,353,332 (GRCm39) critical splice donor site probably null
IGL01866:Abi3bp APN 16 56,492,336 (GRCm39) missense probably benign 0.19
IGL02022:Abi3bp APN 16 56,412,999 (GRCm39) missense probably damaging 1.00
IGL02122:Abi3bp APN 16 56,507,491 (GRCm39) splice site probably benign
IGL02155:Abi3bp APN 16 56,408,327 (GRCm39) missense probably damaging 0.99
IGL02351:Abi3bp APN 16 56,474,418 (GRCm39) missense possibly damaging 0.91
IGL02358:Abi3bp APN 16 56,474,418 (GRCm39) missense possibly damaging 0.91
IGL02418:Abi3bp APN 16 56,424,479 (GRCm39) splice site probably benign
IGL02559:Abi3bp APN 16 56,507,433 (GRCm39) nonsense probably null
IGL02617:Abi3bp APN 16 56,394,807 (GRCm39) nonsense probably null
IGL02810:Abi3bp APN 16 56,498,138 (GRCm39) missense probably damaging 1.00
IGL03057:Abi3bp APN 16 56,488,754 (GRCm39) missense possibly damaging 0.95
IGL03174:Abi3bp APN 16 56,435,110 (GRCm39) missense possibly damaging 0.64
R0389:Abi3bp UTSW 16 56,491,670 (GRCm39) missense possibly damaging 0.79
R0485:Abi3bp UTSW 16 56,424,375 (GRCm39) splice site probably null
R0557:Abi3bp UTSW 16 56,488,750 (GRCm39) missense probably damaging 0.97
R0616:Abi3bp UTSW 16 56,474,433 (GRCm39) missense probably damaging 0.99
R0685:Abi3bp UTSW 16 56,353,316 (GRCm39) missense possibly damaging 0.90
R0783:Abi3bp UTSW 16 56,415,601 (GRCm39) critical splice acceptor site probably null
R0828:Abi3bp UTSW 16 56,498,193 (GRCm39) missense probably damaging 1.00
R0841:Abi3bp UTSW 16 56,488,639 (GRCm39) missense possibly damaging 0.95
R1078:Abi3bp UTSW 16 56,474,444 (GRCm39) critical splice donor site probably null
R1101:Abi3bp UTSW 16 56,426,521 (GRCm39) missense probably damaging 1.00
R1116:Abi3bp UTSW 16 56,506,792 (GRCm39) splice site probably benign
R1145:Abi3bp UTSW 16 56,488,639 (GRCm39) missense possibly damaging 0.95
R1145:Abi3bp UTSW 16 56,488,639 (GRCm39) missense possibly damaging 0.95
R1317:Abi3bp UTSW 16 56,488,672 (GRCm39) missense possibly damaging 0.79
R1384:Abi3bp UTSW 16 56,394,862 (GRCm39) missense probably damaging 1.00
R1460:Abi3bp UTSW 16 56,382,780 (GRCm39) missense probably damaging 0.99
R1730:Abi3bp UTSW 16 56,488,642 (GRCm39) missense possibly damaging 0.62
R1761:Abi3bp UTSW 16 56,488,672 (GRCm39) missense possibly damaging 0.79
R1830:Abi3bp UTSW 16 56,408,348 (GRCm39) missense probably damaging 1.00
R1873:Abi3bp UTSW 16 56,394,862 (GRCm39) missense probably damaging 1.00
R1875:Abi3bp UTSW 16 56,394,862 (GRCm39) missense probably damaging 1.00
R1996:Abi3bp UTSW 16 56,491,720 (GRCm39) missense possibly damaging 0.61
R2018:Abi3bp UTSW 16 56,498,159 (GRCm39) missense probably damaging 1.00
R2019:Abi3bp UTSW 16 56,498,159 (GRCm39) missense probably damaging 1.00
R2035:Abi3bp UTSW 16 56,480,581 (GRCm39) missense probably benign 0.21
R2118:Abi3bp UTSW 16 56,298,227 (GRCm39) unclassified probably benign
R2202:Abi3bp UTSW 16 56,471,088 (GRCm39) nonsense probably null
R2202:Abi3bp UTSW 16 56,433,566 (GRCm39) missense probably benign 0.06
R2203:Abi3bp UTSW 16 56,433,566 (GRCm39) missense probably benign 0.06
R3030:Abi3bp UTSW 16 56,477,682 (GRCm39) missense possibly damaging 0.79
R3952:Abi3bp UTSW 16 56,424,401 (GRCm39) missense possibly damaging 0.88
R4176:Abi3bp UTSW 16 56,472,563 (GRCm39) missense probably damaging 0.96
R4296:Abi3bp UTSW 16 56,488,673 (GRCm39) missense probably benign 0.05
R4301:Abi3bp UTSW 16 56,377,266 (GRCm39) missense probably damaging 1.00
R4354:Abi3bp UTSW 16 56,353,314 (GRCm39) missense probably benign 0.05
R4417:Abi3bp UTSW 16 56,474,398 (GRCm39) missense probably damaging 1.00
R4716:Abi3bp UTSW 16 56,471,088 (GRCm39) nonsense probably null
R4808:Abi3bp UTSW 16 56,414,879 (GRCm39) missense probably damaging 0.96
R4814:Abi3bp UTSW 16 56,471,116 (GRCm39) missense probably benign 0.06
R5016:Abi3bp UTSW 16 56,491,631 (GRCm39) missense probably damaging 0.97
R5290:Abi3bp UTSW 16 56,462,838 (GRCm39) splice site probably null
R5891:Abi3bp UTSW 16 56,426,496 (GRCm39) missense probably damaging 1.00
R5897:Abi3bp UTSW 16 56,425,032 (GRCm39) missense possibly damaging 0.53
R6146:Abi3bp UTSW 16 56,491,628 (GRCm39) missense probably damaging 0.99
R6267:Abi3bp UTSW 16 56,414,860 (GRCm39) missense probably damaging 0.97
R6905:Abi3bp UTSW 16 56,394,880 (GRCm39) missense probably damaging 1.00
R6908:Abi3bp UTSW 16 56,477,668 (GRCm39) missense probably benign 0.01
R6917:Abi3bp UTSW 16 56,437,684 (GRCm39) splice site probably null
R7071:Abi3bp UTSW 16 56,449,503 (GRCm39) nonsense probably null
R7194:Abi3bp UTSW 16 56,382,734 (GRCm39) missense probably damaging 0.99
R7476:Abi3bp UTSW 16 56,435,109 (GRCm39) nonsense probably null
R7554:Abi3bp UTSW 16 56,438,575 (GRCm39) splice site probably null
R7571:Abi3bp UTSW 16 56,451,345 (GRCm39) splice site probably null
R7661:Abi3bp UTSW 16 56,453,263 (GRCm39) splice site probably null
R7662:Abi3bp UTSW 16 56,437,686 (GRCm39) splice site probably null
R7910:Abi3bp UTSW 16 56,498,105 (GRCm39) nonsense probably null
R8121:Abi3bp UTSW 16 56,452,241 (GRCm39) missense unknown
R8781:Abi3bp UTSW 16 56,426,512 (GRCm39) missense probably damaging 0.98
R8790:Abi3bp UTSW 16 56,495,437 (GRCm39) missense probably damaging 1.00
R8828:Abi3bp UTSW 16 56,507,455 (GRCm39) missense probably damaging 1.00
R9094:Abi3bp UTSW 16 56,456,590 (GRCm39) missense probably benign 0.00
R9135:Abi3bp UTSW 16 56,417,173 (GRCm39) missense probably benign 0.21
R9282:Abi3bp UTSW 16 56,440,867 (GRCm39) missense unknown
R9363:Abi3bp UTSW 16 56,438,575 (GRCm39) splice site probably null
R9464:Abi3bp UTSW 16 56,409,046 (GRCm39) missense possibly damaging 0.48
R9506:Abi3bp UTSW 16 56,437,773 (GRCm39) missense unknown
RF008:Abi3bp UTSW 16 56,447,952 (GRCm39) intron probably benign
RF016:Abi3bp UTSW 16 56,447,950 (GRCm39) frame shift probably null
RF052:Abi3bp UTSW 16 56,447,948 (GRCm39) intron probably benign
RF061:Abi3bp UTSW 16 56,447,950 (GRCm39) frame shift probably null
Posted On 2015-04-16