Incidental Mutation 'R2018:Abi3bp'
ID 223544
Institutional Source Beutler Lab
Gene Symbol Abi3bp
Ensembl Gene ENSMUSG00000035258
Gene Name ABI family member 3 binding protein
Synonyms D930038M13Rik, TARSH, 5033411B22Rik, eratin
MMRRC Submission 040027-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R2018 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 56298241-56510498 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 56498159 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 918 (T918A)
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 damaging
Transcript: ENSMUST00000048471
AA Change: T998A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000036257
Gene: ENSMUSG00000035258
AA Change: T998A

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 damaging
Transcript: ENSMUST00000096012
AA Change: T898A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000093711
Gene: ENSMUSG00000035258
AA Change: T898A

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 damaging
Transcript: ENSMUST00000096013
AA Change: T934A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000093712
Gene: ENSMUSG00000035258
AA Change: T934A

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 damaging
Transcript: ENSMUST00000171000
AA Change: T728A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128818
Gene: ENSMUSG00000035258
AA Change: T728A

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 possibly damaging
Transcript: ENSMUST00000231781
AA Change: T1456A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect probably damaging
Transcript: ENSMUST00000231832
AA Change: T703A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000231870
AA Change: T918A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.5115 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 111 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610028H24Rik C A 10: 76,293,899 (GRCm39) F252L possibly damaging Het
4930447A16Rik T G 15: 37,440,742 (GRCm39) probably benign Het
Abca14 A T 7: 119,815,408 (GRCm39) M219L probably benign Het
Acss3 C T 10: 106,772,068 (GRCm39) S669N probably benign Het
Adamts16 G A 13: 70,927,637 (GRCm39) probably benign Het
Adamtsl4 A G 3: 95,588,412 (GRCm39) Y559H probably damaging Het
Adgrg5 T A 8: 95,661,108 (GRCm39) M106K probably damaging Het
Akt1 T C 12: 112,626,059 (GRCm39) N71S probably damaging Het
Amer2 A C 14: 60,615,894 (GRCm39) K30Q probably damaging Het
Anapc5 T C 5: 122,938,587 (GRCm39) K383E probably damaging Het
Ano1 A G 7: 144,207,987 (GRCm39) L258P probably damaging Het
Arb2a A G 13: 78,147,756 (GRCm39) T321A possibly damaging Het
Arhgef10l A G 4: 140,271,695 (GRCm39) S560P probably damaging Het
Arhgef40 T A 14: 52,241,162 (GRCm39) L1395Q probably damaging Het
Arid1a A T 4: 133,409,145 (GRCm39) D1787E unknown Het
Ces2h T C 8: 105,745,030 (GRCm39) L388P probably damaging Het
Cfap54 T A 10: 92,852,466 (GRCm39) N880I probably benign Het
Cryz T C 3: 154,327,320 (GRCm39) V116A probably damaging Het
Csrp1 G A 1: 135,678,366 (GRCm39) A159T probably damaging Het
Cttnbp2 A G 6: 18,434,517 (GRCm39) F447S probably damaging Het
Cyp4a12a A T 4: 115,184,702 (GRCm39) I328F probably damaging Het
Cyth4 T G 15: 78,492,371 (GRCm39) H133Q probably damaging Het
Ddah2 A G 17: 35,279,402 (GRCm39) I88V possibly damaging Het
Dmbt1 T G 7: 130,712,718 (GRCm39) I1563S possibly damaging Het
Dnajc22 T C 15: 98,999,114 (GRCm39) S100P probably benign Het
Fancl T A 11: 26,372,459 (GRCm39) D123E probably damaging Het
Fbxo30 A G 10: 11,166,772 (GRCm39) Q498R probably damaging Het
Fgd4 T C 16: 16,253,824 (GRCm39) H581R probably benign Het
Gm2663 T C 6: 40,974,900 (GRCm39) Q57R probably benign Het
Gm7247 A T 14: 51,602,804 (GRCm39) M47L possibly damaging Het
Gsdmc2 T A 15: 63,699,975 (GRCm39) probably null Het
Hc A C 2: 34,903,540 (GRCm39) F1038C probably damaging Het
Heatr1 C A 13: 12,429,359 (GRCm39) Q890K possibly damaging Het
Hipk4 C A 7: 27,228,429 (GRCm39) T293K probably damaging Het
Hp1bp3 C A 4: 137,948,943 (GRCm39) A2E probably damaging Het
Il6 T C 5: 30,219,945 (GRCm39) probably null Het
Itga6 A G 2: 71,648,828 (GRCm39) D104G probably benign Het
Krt24 A G 11: 99,173,277 (GRCm39) S293P probably damaging Het
Krt4 C T 15: 101,829,086 (GRCm39) R309Q probably damaging Het
Krt40 A T 11: 99,430,913 (GRCm39) W199R probably damaging Het
Lamc1 T C 1: 153,118,378 (GRCm39) E931G probably benign Het
Lamp3 A T 16: 19,519,961 (GRCm39) M74K probably benign Het
Lgalsl2 A G 7: 5,362,573 (GRCm39) D68G probably benign Het
Magel2 G A 7: 62,028,844 (GRCm39) V583I unknown Het
Marchf7 T A 2: 60,059,384 (GRCm39) Y37* probably null Het
Mrpl36 A G 13: 73,479,687 (GRCm39) K66E probably damaging Het
Mrps35 G T 6: 146,962,982 (GRCm39) E229* probably null Het
Mtmr6 T C 14: 60,536,441 (GRCm39) M557T probably benign Het
Myocd A T 11: 65,077,854 (GRCm39) I647N probably damaging Het
Myom2 A C 8: 15,181,151 (GRCm39) L1350F probably damaging Het
Nhsl3 A G 4: 129,116,148 (GRCm39) S884P probably damaging Het
Nosip T A 7: 44,726,033 (GRCm39) S197T probably benign Het
Npat A G 9: 53,473,791 (GRCm39) K528E probably benign Het
Nyap2 A G 1: 81,169,587 (GRCm39) T115A probably benign Het
Obi1 T A 14: 104,759,978 (GRCm39) K24M probably damaging Het
Or10al6 A G 17: 38,083,467 (GRCm39) R317G probably benign Het
Or4a72 A G 2: 89,405,737 (GRCm39) V111A probably damaging Het
Or4c109 G T 2: 88,818,489 (GRCm39) P19Q probably benign Het
Or51b6 T A 7: 103,556,249 (GRCm39) V201D possibly damaging Het
Or5m3 A T 2: 85,838,567 (GRCm39) Y149F probably damaging Het
Or8g55 A G 9: 39,785,354 (GRCm39) Q261R probably benign Het
Orc1 T C 4: 108,447,897 (GRCm39) V48A possibly damaging Het
Pde6d T C 1: 86,474,438 (GRCm39) E69G probably damaging Het
Pdgfrb A T 18: 61,216,406 (GRCm39) D1088V possibly damaging Het
Peg12 A G 7: 62,113,386 (GRCm39) V237A probably benign Het
Phf8-ps T C 17: 33,285,941 (GRCm39) N287S probably benign Het
Piezo1 A G 8: 123,209,451 (GRCm39) F2371L probably benign Het
Podn T A 4: 107,880,570 (GRCm39) S27C probably damaging Het
Pom121l2 A G 13: 22,166,904 (GRCm39) M392V possibly damaging Het
Ppm1b A G 17: 85,301,630 (GRCm39) K170R probably damaging Het
Rab18 A T 18: 6,770,113 (GRCm39) probably null Het
Raet1d G A 10: 22,246,911 (GRCm39) A80T probably damaging Het
Rfx7 T A 9: 72,524,967 (GRCm39) V719E probably benign Het
Ror1 C T 4: 100,265,038 (GRCm39) Q171* probably null Het
Rufy4 G A 1: 74,180,106 (GRCm39) V454M possibly damaging Het
Ryr2 C T 13: 11,866,074 (GRCm39) G292D possibly damaging Het
Ryr3 G T 2: 112,611,410 (GRCm39) N2257K probably benign Het
Saal1 A G 7: 46,348,913 (GRCm39) F306S possibly damaging Het
Sap18 A G 14: 58,036,021 (GRCm39) N69S probably damaging Het
Sar1b A T 11: 51,670,514 (GRCm39) probably null Het
Serpina3n G T 12: 104,375,473 (GRCm39) V182L probably damaging Het
Setd3 A T 12: 108,084,513 (GRCm39) H279Q probably damaging Het
Slc18a2 C A 19: 59,264,937 (GRCm39) A307E possibly damaging Het
Slc4a10 A T 2: 62,064,725 (GRCm39) D193V probably damaging Het
Spire2 T C 8: 124,059,657 (GRCm39) C52R probably damaging Het
Syne2 A T 12: 76,121,353 (GRCm39) I5940F probably damaging Het
Sytl1 C T 4: 132,983,471 (GRCm39) S355N probably damaging Het
Tarbp1 C T 8: 127,154,853 (GRCm39) V1424I probably damaging Het
Tatdn3 A T 1: 190,781,477 (GRCm39) probably null Het
Tbpl1 T A 10: 22,583,576 (GRCm39) E131D probably damaging Het
Telo2 A T 17: 25,324,382 (GRCm39) M501K probably damaging Het
Terb1 A G 8: 105,179,331 (GRCm39) V619A probably benign Het
Tmem132e A G 11: 82,335,989 (GRCm39) T1024A probably benign Het
Tmem30a T C 9: 79,681,500 (GRCm39) D223G probably damaging Het
Tmprss11d A G 5: 86,487,413 (GRCm39) V19A probably damaging Het
Tnks A T 8: 35,318,260 (GRCm39) S872T probably damaging Het
Tnxb A G 17: 34,890,724 (GRCm39) S356G probably benign Het
Tob2 T C 15: 81,735,400 (GRCm39) K190E probably damaging Het
Togaram1 T C 12: 65,049,433 (GRCm39) V1240A possibly damaging Het
Trim13 T A 14: 61,842,335 (GRCm39) C117* probably null Het
Trpv4 G A 5: 114,772,666 (GRCm39) R308C probably damaging Het
Ttn C G 2: 76,585,676 (GRCm39) D21987H probably damaging Het
Ttn C A 2: 76,656,418 (GRCm39) probably null Het
Upp1 A T 11: 9,083,240 (GRCm39) M111L possibly damaging Het
Vmn1r206 A T 13: 22,804,358 (GRCm39) V283E probably damaging Het
Vmn2r79 G T 7: 86,651,634 (GRCm39) L344F probably benign Het
Vmn2r93 T G 17: 18,546,324 (GRCm39) I732S probably damaging Het
Vmn2r96 G T 17: 18,804,263 (GRCm39) M504I probably benign Het
Vps39 T C 2: 120,173,708 (GRCm39) Y147C probably damaging Het
Zbtb20 T A 16: 43,398,015 (GRCm39) C35S possibly damaging Het
Zfp871 A T 17: 32,993,751 (GRCm39) C475S probably 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
IGL02086:Abi3bp APN 16 56,462,930 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- GCAGCCAATCTGTCATTGC -3'
(R):5'- TTCGAGTTAATTTCTGCCGTGC -3'

Sequencing Primer
(F):5'- GCAGCCAATCTGTCATTGCTATGAG -3'
(R):5'- GAGTTAATTTCTGCCGTGCATACTC -3'
Posted On 2014-08-25