Incidental Mutation 'R8781:Abi3bp'
ID 670277
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 068605-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R8781 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 56298241-56510498 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 56426512 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 509 (T509I)
Ref Sequence ENSEMBL: ENSMUSP00000036257 (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: T509I

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000036257
Gene: ENSMUSG00000035258
AA Change: T509I

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: T509I

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000093711
Gene: ENSMUSG00000035258
AA Change: T509I

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: T509I

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000093712
Gene: ENSMUSG00000035258
AA Change: T509I

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 damaging
Transcript: ENSMUST00000231781
AA Change: T509I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000231832
Predicted Effect probably damaging
Transcript: ENSMUST00000231870
AA Change: T509I

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (59/59)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik A G 19: 3,767,538 (GRCm39) D375G possibly damaging Het
Atp13a2 T A 4: 140,723,691 (GRCm39) C257S probably benign Het
Ccdc183 T A 2: 25,502,208 (GRCm39) probably benign Het
Cd109 C T 9: 78,543,929 (GRCm39) P158S probably damaging Het
Cdh23 C T 10: 60,167,567 (GRCm39) E1810K probably damaging Het
Cog5 T A 12: 31,883,249 (GRCm39) W393R probably damaging Het
Cyth1 C T 11: 118,073,069 (GRCm39) R277Q probably damaging Het
Ddx54 G T 5: 120,751,217 (GRCm39) R6L probably benign Het
Dnah8 T A 17: 30,944,078 (GRCm39) I1765N probably damaging Het
Erp27 G A 6: 136,886,458 (GRCm39) Q192* probably null Het
Fam81a T A 9: 70,032,381 (GRCm39) H37L probably damaging Het
Fbn2 A G 18: 58,194,719 (GRCm39) S1481P possibly damaging Het
Fbp1 T G 13: 63,016,831 (GRCm39) I224L probably benign Het
Fhit A G 14: 10,421,503 (GRCm38) V32A probably damaging Het
Gapvd1 T A 2: 34,610,698 (GRCm39) H495L probably benign Het
Gas2l3 T C 10: 89,266,841 (GRCm39) D33G probably damaging Het
Heatr5b A T 17: 79,102,738 (GRCm39) D1213E probably benign Het
Hsf2bp C G 17: 32,252,241 (GRCm39) E65Q possibly damaging Het
Kif28 G T 1: 179,525,481 (GRCm39) T937K probably benign Het
Klf6 T A 13: 5,915,071 (GRCm39) V170D probably benign Het
Kri1 A T 9: 21,191,748 (GRCm39) S283T Het
Lcor C T 19: 41,573,698 (GRCm39) R818W probably damaging Het
Lct A G 1: 128,215,261 (GRCm39) Y1772H probably damaging Het
Lrrc37 T A 11: 103,508,958 (GRCm39) E1003D unknown Het
Naip5 T A 13: 100,356,338 (GRCm39) E1092D probably benign Het
Or2b2b A G 13: 21,859,013 (GRCm39) S34P probably damaging Het
Or52j3 T A 7: 102,836,082 (GRCm39) D91E probably benign Het
Or8c14-ps1 T G 9: 38,101,385 (GRCm39) D121E probably damaging Het
Parg T A 14: 31,936,400 (GRCm39) D518E probably benign Het
Pcx G A 19: 4,670,980 (GRCm39) A1095T probably damaging Het
Pde1b G A 15: 103,433,727 (GRCm39) V342M probably damaging Het
Pik3r2 C T 8: 71,222,046 (GRCm39) G579D possibly damaging Het
Pknox1 G A 17: 31,821,837 (GRCm39) probably benign Het
Pla2g3 C A 11: 3,438,530 (GRCm39) T60K probably benign Het
Ppfia3 C T 7: 44,997,953 (GRCm39) E725K possibly damaging Het
Ppl C T 16: 4,915,800 (GRCm39) V588I possibly damaging Het
Sardh T A 2: 27,086,715 (GRCm39) E815V possibly damaging Het
Scn7a T C 2: 66,567,775 (GRCm39) E273G probably benign Het
Slc7a8 A T 14: 54,996,996 (GRCm39) probably benign Het
Smg8 G A 11: 86,971,147 (GRCm39) P875S possibly damaging Het
Sncaip T C 18: 53,039,614 (GRCm39) S603P probably benign Het
Speg G A 1: 75,383,665 (GRCm39) G1218S probably damaging Het
Stk31 A T 6: 49,383,709 (GRCm39) D92V probably damaging Het
Suco A G 1: 161,645,951 (GRCm39) V1250A probably damaging Het
Tas2r138 A G 6: 40,589,850 (GRCm39) V132A probably benign Het
Tcp1 T C 17: 13,143,263 (GRCm39) I524T probably damaging Het
Tenm3 CTGCTGTGAAATG C 8: 48,795,484 (GRCm39) probably null Het
Tln2 C A 9: 67,163,233 (GRCm39) V1105L probably damaging Het
Tmem19 T C 10: 115,195,563 (GRCm39) probably benign Het
Tmprss4 T C 9: 45,087,740 (GRCm39) Y283C possibly damaging Het
Trim29 T A 9: 43,222,615 (GRCm39) V148D probably benign Het
Trip10 C T 17: 57,562,313 (GRCm39) A277V probably benign Het
Usp12 C A 5: 146,700,172 (GRCm39) R61L probably benign Het
Vmn1r58 T G 7: 5,413,482 (GRCm39) L249F probably benign Het
Vmn2r31 C T 7: 7,387,400 (GRCm39) V724I possibly damaging Het
Vmn2r66 C T 7: 84,644,355 (GRCm39) W685* probably null Het
Vmn2r8 A G 5: 108,945,597 (GRCm39) I670T possibly damaging Het
Vmn2r91 T A 17: 18,305,323 (GRCm39) M2K possibly damaging Het
Wdr12 A G 1: 60,126,300 (GRCm39) W172R probably damaging Het
Yipf5 A T 18: 40,340,752 (GRCm39) V200E possibly damaging Het
Zfp608 T C 18: 55,031,801 (GRCm39) K713R probably damaging Het
Zfp768 A G 7: 126,942,476 (GRCm39) S554P 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
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 56,433,566 (GRCm39) missense probably benign 0.06
R2202:Abi3bp UTSW 16 56,471,088 (GRCm39) nonsense probably null
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
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'- CTCTGTAGAAAGCATGCACAGC -3'
(R):5'- CACGTTATTGAAGACCCCTGTTTTC -3'

Sequencing Primer
(F):5'- ACAGCATGGGCATCTAGAAATAC -3'
(R):5'- CTGTCCTGCAGAGAAACA -3'
Posted On 2021-04-30