Incidental Mutation 'R0685:Abi3bp'
ID 61145
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 038870-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R0685 (G1)
Quality Score 120
Status Validated
Chromosome 16
Chromosomal Location 56298241-56510498 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 56353316 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 82 (T82A)
Ref Sequence ENSEMBL: ENSMUSP00000036257 (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: T82A

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000036257
Gene: ENSMUSG00000035258
AA Change: T82A

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: T82A

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000093711
Gene: ENSMUSG00000035258
AA Change: T82A

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 possibly damaging
Transcript: ENSMUST00000096013
AA Change: T82A

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000093712
Gene: ENSMUSG00000035258
AA Change: T82A

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
AA Change: T82A

PolyPhen 2 Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000128818
Gene: ENSMUSG00000035258
AA Change: T82A

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 possibly damaging
Transcript: ENSMUST00000231781
AA Change: T82A

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000231832
AA Change: T82A

PolyPhen 2 Score 0.760 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000231870
AA Change: T82A

PolyPhen 2 Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
Meta Mutation Damage Score 0.1131 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.6%
Validation Efficiency 98% (89/91)
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020N01Rik A G 10: 21,469,337 (GRCm39) D17G probably damaging Het
Adgre4 A C 17: 56,099,035 (GRCm39) E180D probably benign Het
Ankrd28 G A 14: 31,465,407 (GRCm39) probably benign Het
Aoc3 A G 11: 101,227,273 (GRCm39) D382G possibly damaging Het
Apob C A 12: 8,060,742 (GRCm39) R3075S probably benign Het
Aqr A G 2: 113,971,458 (GRCm39) F459S probably damaging Het
Bcr T C 10: 74,967,475 (GRCm39) W570R probably damaging Het
Bloc1s5 C T 13: 38,787,895 (GRCm39) R163K probably benign Het
Bod1 A T 11: 31,619,267 (GRCm39) N101K possibly damaging Het
Bysl A T 17: 47,913,396 (GRCm39) S296T probably benign Het
Chl1 G A 6: 103,685,503 (GRCm39) probably null Het
Clstn1 G A 4: 149,731,312 (GRCm39) A885T probably benign Het
Cyp3a25 G T 5: 145,935,356 (GRCm39) P87T probably damaging Het
Dync1h1 T C 12: 110,623,626 (GRCm39) V3633A probably damaging Het
Dynlt5 T C 4: 102,859,735 (GRCm39) Y96H probably damaging Het
Elp4 C A 2: 105,622,622 (GRCm39) C241F possibly damaging Het
Fat4 T A 3: 39,055,327 (GRCm39) F4182Y probably benign Het
Gabbr2 G A 4: 46,787,521 (GRCm39) H381Y possibly damaging Het
Gm10577 G T 4: 100,877,515 (GRCm39) probably benign Het
Gm9955 G T 18: 24,842,314 (GRCm39) probably benign Het
Gstm5 T A 3: 107,804,635 (GRCm39) I73N probably damaging Het
Gypa T A 8: 81,223,331 (GRCm39) probably benign Het
Hectd2 T A 19: 36,546,831 (GRCm39) V64D probably damaging Het
Igkv10-95 T A 6: 68,657,543 (GRCm39) Y20N probably benign Het
Il15 T C 8: 83,064,188 (GRCm39) probably benign Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Kiz C A 2: 146,697,978 (GRCm39) probably benign Het
Lcmt2 C A 2: 120,969,721 (GRCm39) S234I probably benign Het
Lilra5 A G 7: 4,244,956 (GRCm39) probably benign Het
Lin37 T C 7: 30,255,299 (GRCm39) E187G probably damaging Het
Lrrc37 T C 11: 103,507,714 (GRCm39) probably benign Het
Mcmdc2 T A 1: 9,982,039 (GRCm39) probably null Het
Mctp1 T C 13: 76,973,918 (GRCm39) probably null Het
Mdp1 C A 14: 55,896,726 (GRCm39) G112* probably null Het
Mmp15 T C 8: 96,098,762 (GRCm39) Y530H possibly damaging Het
Mtss2 T C 8: 111,454,029 (GRCm39) probably null Het
Muc5ac T C 7: 141,361,446 (GRCm39) S1586P probably benign Het
Nap1l5 A T 6: 58,883,757 (GRCm39) C66S possibly damaging Het
Ninl G T 2: 150,781,775 (GRCm39) Q1237K possibly damaging Het
Or5p70 A T 7: 107,994,470 (GRCm39) T48S possibly damaging Het
Or9m1b T C 2: 87,836,762 (GRCm39) E111G probably damaging Het
Orc6 T G 8: 86,027,783 (GRCm39) S37R possibly damaging Het
Papss1 A C 3: 131,288,854 (GRCm39) N119H possibly damaging Het
Phf13 A T 4: 152,076,069 (GRCm39) F278I probably damaging Het
Pole2 C A 12: 69,258,187 (GRCm39) A239S probably damaging Het
Ppt2 T C 17: 34,845,546 (GRCm39) D75G probably damaging Het
Psd2 A G 18: 36,136,044 (GRCm39) D443G possibly damaging Het
Psen1 C A 12: 83,761,594 (GRCm39) S132* probably null Het
Psme4 A G 11: 30,828,415 (GRCm39) T1812A probably damaging Het
Rasgrf1 T C 9: 89,797,535 (GRCm39) probably benign Het
Reep3 A G 10: 66,857,518 (GRCm39) probably benign Het
Rexo4 A T 2: 26,848,586 (GRCm39) probably benign Het
Rnf6 A C 5: 146,148,468 (GRCm39) S183R probably damaging Het
Scai A T 2: 38,993,749 (GRCm39) M297K probably damaging Het
Scn9a A T 2: 66,313,843 (GRCm39) S1947R probably benign Het
Sema6c T C 3: 95,080,021 (GRCm39) C772R possibly damaging Het
Skint7 T C 4: 111,837,542 (GRCm39) S107P possibly damaging Het
Slc24a3 A G 2: 145,448,715 (GRCm39) N420D probably benign Het
Smc1b T C 15: 84,955,021 (GRCm39) D1077G possibly damaging Het
Smg7 G A 1: 152,742,399 (GRCm39) P82L probably damaging Het
Sp3 A C 2: 72,801,342 (GRCm39) F268V probably damaging Het
Srms T C 2: 180,854,426 (GRCm39) D47G probably benign Het
Ss18 A C 18: 14,784,238 (GRCm39) M150R probably damaging Het
Taf5 G A 19: 47,063,293 (GRCm39) R281Q probably benign Het
Tars1 T C 15: 11,385,259 (GRCm39) K644R probably benign Het
Tinag C A 9: 76,859,285 (GRCm39) W441L probably damaging Het
Tmtc1 T C 6: 148,312,738 (GRCm39) S244G probably benign Het
Tpr T C 1: 150,309,476 (GRCm39) V1670A possibly damaging Het
Trpv3 A G 11: 73,187,640 (GRCm39) probably benign Het
Uhrf1 G T 17: 56,617,742 (GRCm39) V155L probably damaging Het
Ush2a G A 1: 188,132,475 (GRCm39) C899Y probably damaging Het
Vmn2r115 G A 17: 23,578,249 (GRCm39) R574H probably benign Het
Vmn2r63 T C 7: 42,577,434 (GRCm39) D368G probably benign Het
Vps13a A G 19: 16,758,105 (GRCm39) V10A probably damaging Het
Wbp11 A G 6: 136,791,636 (GRCm39) probably benign Het
Zcwpw1 A G 5: 137,797,854 (GRCm39) D145G probably benign Het
Zfp607a G A 7: 27,577,901 (GRCm39) V324I probably damaging Het
Zfp618 A G 4: 63,052,011 (GRCm39) I931V probably benign Het
Zfp821 T C 8: 110,451,174 (GRCm39) V389A possibly damaging Het
Zfp976 T A 7: 42,263,141 (GRCm39) H232L 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
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
Predicted Primers PCR Primer
(F):5'- GAATGATGCTTCCAGCAAGCAAGG -3'
(R):5'- GCTCCAGGTTCCAGTTACAAAGGTG -3'

Sequencing Primer
(F):5'- GGTGAAATATCAGGCACTTACCTATG -3'
(R):5'- ACAAAGGTGATTTGTGTTGCCAC -3'
Posted On 2013-07-30