Incidental Mutation 'R6146:Abi3bp'
ID 488909
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 044293-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R6146 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 56298241-56510498 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56491628 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 552 (S552P)
Ref Sequence ENSEMBL: ENSMUSP00000156155 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048471] [ENSMUST00000096012] [ENSMUST00000096013] [ENSMUST00000171000] [ENSMUST00000231781] [ENSMUST00000231832] [ENSMUST00000231870]
AlphaFold A0A338P6S8
Predicted Effect probably benign
Transcript: ENSMUST00000048471
AA Change: S847P

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000036257
Gene: ENSMUSG00000035258
AA Change: S847P

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
AA Change: S747P

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000093711
Gene: ENSMUSG00000035258
AA Change: S747P

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
AA Change: S783P

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000093712
Gene: ENSMUSG00000035258
AA Change: S783P

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: S577P

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000128818
Gene: ENSMUSG00000035258
AA Change: S577P

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: S1305P

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably damaging
Transcript: ENSMUST00000231832
AA Change: S552P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000231870
AA Change: S767P

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A G 5: 8,946,587 (GRCm39) E29G probably benign Het
Adgrg7 A G 16: 56,593,829 (GRCm39) I129T probably benign Het
Adhfe1 A G 1: 9,623,943 (GRCm39) N148S probably damaging Het
AI182371 A G 2: 34,987,983 (GRCm39) Y77H probably damaging Het
Aldh5a1 C T 13: 25,103,661 (GRCm39) probably null Het
Ankrd2 A G 19: 42,028,544 (GRCm39) T67A possibly damaging Het
Anln A T 9: 22,287,604 (GRCm39) C232* probably null Het
Cchcr1 A G 17: 35,839,475 (GRCm39) D587G possibly damaging Het
Cgn G T 3: 94,674,435 (GRCm39) Q901K possibly damaging Het
Cip2a A T 16: 48,814,692 (GRCm39) K18* probably null Het
Cluh G T 11: 74,558,054 (GRCm39) probably null Het
Crebbp G A 16: 3,902,487 (GRCm39) Q2213* probably null Het
Cyp2d22 T A 15: 82,258,036 (GRCm39) probably null Het
Dcdc2a T C 13: 25,389,440 (GRCm39) V456A probably benign Het
Depdc5 A G 5: 33,126,075 (GRCm39) E569G probably benign Het
Dnah5 T C 15: 28,459,331 (GRCm39) F4517L probably benign Het
Doc2b T C 11: 75,664,421 (GRCm39) K317E probably damaging Het
Dysf T A 6: 84,180,181 (GRCm39) D1951E probably damaging Het
Epha6 C A 16: 60,245,198 (GRCm39) A334S possibly damaging Het
F2rl2 A C 13: 95,837,149 (GRCm39) I65L probably benign Het
Fbxw17 A G 13: 50,586,548 (GRCm39) K417E probably benign Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Fxr2 A G 11: 69,532,165 (GRCm39) M96V possibly damaging Het
Kcnj10 C A 1: 172,196,892 (GRCm39) Y135* probably null Het
Kidins220 G A 12: 25,102,812 (GRCm39) R1238Q probably damaging Het
Krt31 T C 11: 99,939,056 (GRCm39) N255S probably benign Het
Lrp2 T C 2: 69,341,345 (GRCm39) D945G probably benign Het
Lrrc66 T C 5: 73,765,432 (GRCm39) D537G probably benign Het
Ltbp4 T A 7: 27,019,149 (GRCm39) I992F probably damaging Het
Lzts1 A G 8: 69,593,524 (GRCm39) S28P probably benign Het
Mrc2 C A 11: 105,216,470 (GRCm39) N86K probably damaging Het
Mroh6 C A 15: 75,758,486 (GRCm39) A302S possibly damaging Het
Muc16 T A 9: 18,409,093 (GRCm39) N198Y probably damaging Het
Myo9a T C 9: 59,778,512 (GRCm39) S1423P probably benign Het
Or10ag58 A T 2: 87,265,662 (GRCm39) D277V possibly damaging Het
Or2b28 A T 13: 21,531,164 (GRCm39) Y22F possibly damaging Het
Or5h22 A G 16: 58,895,077 (GRCm39) V122A probably benign Het
Or5p56 G T 7: 107,589,620 (GRCm39) G16V probably damaging Het
Or5w17 A C 2: 87,583,602 (GRCm39) L245R probably damaging Het
Or9g4 T A 2: 85,504,938 (GRCm39) K186* probably null Het
Otogl G A 10: 107,612,978 (GRCm39) silent Het
Polg T C 7: 79,100,260 (GRCm39) M1184V probably benign Het
Prl8a8 T C 13: 27,694,463 (GRCm39) Y108C probably damaging Het
Proser1 T A 3: 53,385,540 (GRCm39) I474N probably damaging Het
Rab44 A G 17: 29,354,391 (GRCm39) probably benign Het
Rbp1 C A 9: 98,307,669 (GRCm39) D79E possibly damaging Het
Rnf213 T C 11: 119,326,825 (GRCm39) V1605A probably benign Het
Rps24 A T 14: 24,540,803 (GRCm39) probably null Het
Setd5 T C 6: 113,098,773 (GRCm39) probably null Het
Skic3 A G 13: 76,333,359 (GRCm39) E1536G probably damaging Het
Slc38a3 T C 9: 107,532,228 (GRCm39) I435V probably benign Het
Slco1a5 T A 6: 142,180,534 (GRCm39) M623L probably benign Het
Spaca9 G A 2: 28,583,793 (GRCm39) R64W probably damaging Het
Spn A G 7: 126,735,479 (GRCm39) S343P possibly damaging Het
Sptan1 A G 2: 29,894,535 (GRCm39) T1168A probably benign Het
Sptbn4 A T 7: 27,064,012 (GRCm39) L2138* probably null Het
Tg T A 15: 66,545,216 (GRCm39) probably null Het
Tigd5 T A 15: 75,782,094 (GRCm39) L152Q probably damaging Het
Tmem163 C T 1: 127,447,126 (GRCm39) V170I probably benign Het
Tpr T C 1: 150,298,913 (GRCm39) C1068R possibly damaging Het
Ubr1 A T 2: 120,723,690 (GRCm39) Y1290N probably damaging Het
Vmn1r184 T A 7: 25,966,817 (GRCm39) F188I probably benign Het
Vmn2r100 G A 17: 19,742,522 (GRCm39) V299I probably benign Het
Vmn2r91 T G 17: 18,356,518 (GRCm39) H728Q probably benign Het
Vta1 T C 10: 14,581,096 (GRCm39) Y37C probably damaging Het
Wbp2 C A 11: 115,974,728 (GRCm39) M35I probably benign Het
Zcchc9 G A 13: 91,953,986 (GRCm39) Q90* probably null 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
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'- GTCAAGAACCAGGTCTTGCG -3'
(R):5'- CCAAGGAAAGGAGCGTATTCTG -3'

Sequencing Primer
(F):5'- AGGTCTTGCGTGCTCTCCAAG -3'
(R):5'- TTGATGAAAATTGAGGACCCCC -3'
Posted On 2017-10-10