Incidental Mutation 'R1460:Abi3bp'
ID 162101
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 039515-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R1460 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 56298241-56510498 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56382780 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 130 (V130A)
Ref Sequence ENSEMBL: ENSMUSP00000156155 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048471] [ENSMUST00000096012] [ENSMUST00000096013] [ENSMUST00000171000] [ENSMUST00000231781] [ENSMUST00000231832] [ENSMUST00000231870]
AlphaFold A0A338P6S8
Predicted Effect possibly damaging
Transcript: ENSMUST00000048471
AA Change: V130A

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000036257
Gene: ENSMUSG00000035258
AA Change: V130A

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 possibly damaging
Transcript: ENSMUST00000096012
AA Change: V130A

PolyPhen 2 Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000093711
Gene: ENSMUSG00000035258
AA Change: V130A

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: V130A

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000093712
Gene: ENSMUSG00000035258
AA Change: V130A

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: V130A

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000128818
Gene: ENSMUSG00000035258
AA Change: V130A

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 noncoding transcript
Transcript: ENSMUST00000231337
Predicted Effect probably damaging
Transcript: ENSMUST00000231781
AA Change: V130A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000231832
AA Change: V130A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect possibly damaging
Transcript: ENSMUST00000231870
AA Change: V130A

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
Meta Mutation Damage Score 0.1367 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 89.1%
Validation Efficiency 94% (93/99)
Allele List at MGI
Other mutations in this stock
Total: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522H14Rik A T 4: 109,388,407 (GRCm39) probably null Het
Abcb11 A G 2: 69,087,718 (GRCm39) probably benign Het
Adamts4 A G 1: 171,084,009 (GRCm39) probably benign Het
Adgrd1 A G 5: 129,199,627 (GRCm39) T155A possibly damaging Het
Ano3 A T 2: 110,513,103 (GRCm39) S631T probably damaging Het
Ass1 G A 2: 31,404,753 (GRCm39) V345I probably benign Het
Atg7 G A 6: 114,680,325 (GRCm39) A384T probably damaging Het
Atp6v0a1 T A 11: 100,924,824 (GRCm39) I303N probably damaging Het
B3gntl1 T G 11: 121,530,624 (GRCm39) Y149S probably damaging Het
Btnl2 A G 17: 34,585,424 (GRCm39) D475G probably benign Het
Cdcp1 A T 9: 123,009,092 (GRCm39) S529T possibly damaging Het
Cenpt A G 8: 106,575,520 (GRCm39) L194P probably damaging Het
Cfhr4 T A 1: 139,625,934 (GRCm39) I788F probably damaging Het
Chmp4b A G 2: 154,534,515 (GRCm39) D177G possibly damaging Het
Chmp7 C T 14: 69,956,899 (GRCm39) M336I probably benign Het
Cish G T 9: 107,177,596 (GRCm39) E91* probably null Het
Col22a1 T C 15: 71,693,780 (GRCm39) D740G unknown Het
Cplane2 T C 4: 140,945,523 (GRCm39) F125L probably damaging Het
Crocc G A 4: 140,756,551 (GRCm39) Q1025* probably null Het
Ctrc C A 4: 141,566,120 (GRCm39) probably benign Het
Cyb5r2 T A 7: 107,356,450 (GRCm39) D7V probably benign Het
Dhx29 T C 13: 113,101,744 (GRCm39) probably benign Het
Dhx9 A C 1: 153,341,426 (GRCm39) D607E probably benign Het
Dnajb7 C T 15: 81,291,888 (GRCm39) G150R probably benign Het
Dnase1l3 T A 14: 7,974,050 (GRCm38) T214S probably benign Het
Dpm1 A T 2: 168,052,549 (GRCm39) I229N probably damaging Het
Dstn T C 2: 143,780,408 (GRCm39) V36A possibly damaging Het
Entpd1 T C 19: 40,714,632 (GRCm39) V247A probably damaging Het
Ephb3 C A 16: 21,037,672 (GRCm39) H277Q probably benign Het
Etl4 A T 2: 20,793,288 (GRCm39) N671I probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fancd2os G A 6: 113,574,973 (GRCm39) T11I probably damaging Het
Fcrlb G T 1: 170,739,853 (GRCm39) probably benign Het
Fhip1a T C 3: 85,638,183 (GRCm39) I39V probably damaging Het
Gm9991 T C 1: 90,606,780 (GRCm39) noncoding transcript Het
Gstk1 C T 6: 42,223,529 (GRCm39) R40W probably damaging Het
Gstt1 C T 10: 75,620,004 (GRCm39) V190M probably damaging Het
Hectd2 G A 19: 36,592,908 (GRCm39) W691* probably null Het
Hecw2 T C 1: 53,852,404 (GRCm39) T1572A probably damaging Het
Hoxa5 T C 6: 52,180,928 (GRCm39) T135A probably benign Het
Igfl3 T A 7: 17,913,880 (GRCm39) C77S possibly damaging Het
Itgb4 A G 11: 115,874,990 (GRCm39) D449G probably damaging Het
Larp1b T C 3: 40,916,653 (GRCm39) V11A probably benign Het
Lhx9 A G 1: 138,766,447 (GRCm39) probably benign Het
Lig3 G T 11: 82,686,624 (GRCm39) probably benign Het
Lipo4 A C 19: 33,476,718 (GRCm39) F343L probably benign Het
Lyn T A 4: 3,789,908 (GRCm39) Y480* probably null Het
Mib2 C T 4: 155,743,917 (GRCm39) G42S probably damaging Het
Mill1 C A 7: 17,996,595 (GRCm39) A137D probably damaging Het
Mmut T C 17: 41,248,266 (GRCm39) Y98H probably damaging Het
Morc2a A T 11: 3,633,794 (GRCm39) R635S probably benign Het
Mpped2 A G 2: 106,575,237 (GRCm39) probably benign Het
Mug2 T C 6: 122,017,492 (GRCm39) probably benign Het
Mynn C A 3: 30,657,853 (GRCm39) S57Y probably damaging Het
Myo3b G A 2: 70,062,798 (GRCm39) E333K probably benign Het
Myt1 A T 2: 181,444,725 (GRCm39) I514F probably damaging Het
Nlrp4f A G 13: 65,338,082 (GRCm39) C708R probably benign Het
Nod2 A G 8: 89,390,440 (GRCm39) E249G probably damaging Het
Npy2r T C 3: 82,448,251 (GRCm39) I175V probably benign Het
Obscn A T 11: 58,946,792 (GRCm39) V4114D probably damaging Het
Or1l8 A T 2: 36,817,820 (GRCm39) M102K probably damaging Het
Or2y12 T A 11: 49,426,504 (GRCm39) M164K possibly damaging Het
Or4a76 A G 2: 89,460,282 (GRCm39) probably null Het
Or52e7 T A 7: 104,684,915 (GRCm39) I170N possibly damaging Het
Or8g33 A G 9: 39,337,503 (GRCm39) M288T probably benign Het
Pbxip1 T A 3: 89,352,921 (GRCm39) I196N probably damaging Het
Piezo1 G A 8: 123,228,890 (GRCm39) T209M possibly damaging Het
Polr1a T C 6: 71,918,368 (GRCm39) M642T probably damaging Het
Prdm4 T C 10: 85,743,686 (GRCm39) M190V probably benign Het
Psmd7 G A 8: 108,307,691 (GRCm39) S264L possibly damaging Het
Qrich1 T G 9: 108,410,846 (GRCm39) probably benign Het
Rapgef4 G T 2: 71,861,520 (GRCm39) probably null Het
Rfx5 T C 3: 94,863,636 (GRCm39) I95T probably damaging Het
Rgr G A 14: 36,767,683 (GRCm39) R113C probably damaging Het
Rnf20 T C 4: 49,645,873 (GRCm39) probably benign Het
Rps3a1 G A 3: 86,045,369 (GRCm39) A241V probably benign Het
Rttn A T 18: 89,127,481 (GRCm39) probably benign Het
Scn2a A G 2: 65,532,187 (GRCm39) T600A probably damaging Het
Scyl2 T C 10: 89,493,751 (GRCm39) D339G possibly damaging Het
Sipa1 T A 19: 5,701,475 (GRCm39) H1029L probably benign Het
Slc49a4 T C 16: 35,539,736 (GRCm39) T362A probably benign Het
Snrnp48 A G 13: 38,395,081 (GRCm39) T124A probably benign Het
Sptbn1 A T 11: 30,088,637 (GRCm39) M875K possibly damaging Het
Supt6 A G 11: 78,113,024 (GRCm39) V973A possibly damaging Het
Supv3l1 T C 10: 62,279,162 (GRCm39) probably benign Het
Svep1 G T 4: 58,068,740 (GRCm39) N3015K possibly damaging Het
Tgfb3 A G 12: 86,105,841 (GRCm39) probably benign Het
Trerf1 A G 17: 47,628,771 (GRCm39) noncoding transcript Het
Trim24 T A 6: 37,941,761 (GRCm39) F904I probably damaging Het
Trim30d T A 7: 104,121,311 (GRCm39) Y328F probably benign Het
Ttn T C 2: 76,698,717 (GRCm39) E6G probably damaging Het
Ube2m T C 7: 12,769,762 (GRCm39) probably benign Het
Vmn2r-ps158 A T 7: 42,672,639 (GRCm39) R91S probably benign Het
Wdr90 A T 17: 26,079,422 (GRCm39) S237R possibly damaging Het
Zfp735 A T 11: 73,603,159 (GRCm39) H701L possibly damaging Het
Zp1 T C 19: 10,896,242 (GRCm39) D161G probably benign 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
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
Predicted Primers PCR Primer
(F):5'- CATCATTTGAAAGGCACtgtactggc -3'
(R):5'- AGGGTCCAAAGTTTGTGCATTTTCCTA -3'

Sequencing Primer
(F):5'- gagcaagccaggggaag -3'
(R):5'- TATGCACATGTCACTACATCAAAAG -3'
Posted On 2014-03-14