Incidental Mutation 'R7554:Abi3bp'
ID 585996
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 045651-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R7554 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 56298241-56510498 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 56438575 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000156096 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048471] [ENSMUST00000096012] [ENSMUST00000096013] [ENSMUST00000171000] [ENSMUST00000231781] [ENSMUST00000231832] [ENSMUST00000231870]
AlphaFold A0A338P6S8
Predicted Effect probably benign
Transcript: ENSMUST00000048471
SMART Domains Protein: ENSMUSP00000036257
Gene: ENSMUSG00000035258

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
SMART Domains Protein: ENSMUSP00000093711
Gene: ENSMUSG00000035258

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
SMART Domains Protein: ENSMUSP00000093712
Gene: ENSMUSG00000035258

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 null
Transcript: ENSMUST00000231781
Predicted Effect probably benign
Transcript: ENSMUST00000231832
Predicted Effect probably benign
Transcript: ENSMUST00000231870
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik A T 15: 84,839,686 (GRCm39) F185I probably damaging Het
Acot5 T A 12: 84,120,254 (GRCm39) L203H probably damaging Het
Alad C T 4: 62,430,023 (GRCm39) probably null Het
Alkbh5 C T 11: 60,429,415 (GRCm39) T56I probably benign Het
Apbb1ip G A 2: 22,713,558 (GRCm39) D138N unknown Het
BC049715 T G 6: 136,817,295 (GRCm39) S178R probably damaging Het
C1rb C A 6: 124,557,365 (GRCm39) H501N probably damaging Het
Celsr3 A T 9: 108,718,408 (GRCm39) M2327L probably benign Het
Cers4 G A 8: 4,565,718 (GRCm39) V55I probably benign Het
Cngb3 A T 4: 19,461,753 (GRCm39) K545* probably null Het
Crb1 C T 1: 139,265,019 (GRCm39) C133Y probably damaging Het
Cryba4 C T 5: 112,398,969 (GRCm39) R25Q probably damaging Het
Cyp7b1 C T 3: 18,151,610 (GRCm39) G201D probably benign Het
Dcun1d2 A T 8: 13,331,077 (GRCm39) C18S probably benign Het
Ddx39b A T 17: 35,466,006 (GRCm39) I176F probably benign Het
Dnah7a A G 1: 53,567,857 (GRCm39) I1913T possibly damaging Het
Eif2ak1 T C 5: 143,816,296 (GRCm39) I198T probably damaging Het
Esp34 G A 17: 38,866,782 (GRCm39) M75I probably benign Het
Fam98a G T 17: 75,854,670 (GRCm39) C46* probably null Het
Fanci A T 7: 79,062,500 (GRCm39) N342I probably damaging Het
Fat1 A T 8: 45,490,202 (GRCm39) I3705F possibly damaging Het
Fbxw7 T A 3: 84,883,620 (GRCm39) V598D Het
Gas2l2 G A 11: 83,315,236 (GRCm39) Q306* probably null Het
Gbp10 G A 5: 105,384,015 (GRCm39) probably benign Het
Gigyf2 T A 1: 87,335,292 (GRCm39) S378T unknown Het
Hao1 C T 2: 134,372,538 (GRCm39) V157M possibly damaging Het
Hdlbp C T 1: 93,365,031 (GRCm39) V79M probably damaging Het
Htt G A 5: 35,022,084 (GRCm39) R1676H probably damaging Het
Ift56 T A 6: 38,362,435 (GRCm39) L70Q probably null Het
Klhl11 A G 11: 100,354,774 (GRCm39) V349A probably benign Het
Lama2 T C 10: 27,031,492 (GRCm39) E1522G probably damaging Het
Map3k4 T A 17: 12,451,300 (GRCm39) K1531M probably damaging Het
Map3k4 T A 17: 12,451,301 (GRCm39) K1531* probably null Het
Mapk15 A G 15: 75,867,745 (GRCm39) Y120C possibly damaging Het
Mapt C A 11: 104,189,528 (GRCm39) P182Q probably benign Het
Mgat4d A C 8: 84,082,402 (GRCm39) K117N probably benign Het
Mid1 G T X: 168,769,010 (GRCm39) S468I possibly damaging Het
Mmp8 T C 9: 7,563,112 (GRCm39) L225P probably damaging Het
Mrps31 A G 8: 22,911,445 (GRCm39) K229R possibly damaging Het
Muc5b A T 7: 141,412,513 (GRCm39) T1820S unknown Het
Myof T C 19: 37,942,958 (GRCm39) T707A probably benign Het
Nckap5l A T 15: 99,327,261 (GRCm39) S143T probably benign Het
Notch3 A G 17: 32,341,345 (GRCm39) S2136P probably benign Het
Nphp3 A T 9: 103,919,270 (GRCm39) D1306V probably damaging Het
Or10ag56 T A 2: 87,139,349 (GRCm39) M92K probably damaging Het
Or1e1b-ps1 C T 11: 73,845,630 (GRCm39) T38I probably damaging Het
Or2at1 T A 7: 99,417,210 (GRCm39) N280K possibly damaging Het
Or52n1 T C 7: 104,383,074 (GRCm39) I166V probably benign Het
Or56b1 T C 7: 104,285,733 (GRCm39) M284T probably benign Het
Or5k15 T C 16: 58,709,769 (GRCm39) I271M probably benign Het
Pabpc4l T A 3: 46,401,549 (GRCm39) T32S probably benign Het
Pcdhb10 A C 18: 37,544,935 (GRCm39) T4P probably benign Het
Pkhd1l1 A G 15: 44,358,866 (GRCm39) I358M probably damaging Het
Plekhg1 A G 10: 3,913,647 (GRCm39) E1178G Het
Prkcd A T 14: 30,331,220 (GRCm39) Y52N probably damaging Het
Rasa3 G A 8: 13,645,390 (GRCm39) T183M probably damaging Het
Rbm26 G T 14: 105,398,029 (GRCm39) A31D unknown Het
Scara3 T C 14: 66,158,299 (GRCm39) T570A possibly damaging Het
Sec24d T A 3: 123,149,423 (GRCm39) V810D probably damaging Het
Sgcz A T 8: 38,030,426 (GRCm39) probably null Het
Stt3b A G 9: 115,109,477 (GRCm39) probably null Het
Synpo G T 18: 60,736,405 (GRCm39) Q514K probably benign Het
Tagln2 G T 1: 172,333,411 (GRCm39) K88N probably damaging Het
Tcaf1 T A 6: 42,654,388 (GRCm39) K601N probably benign Het
Tent4a G T 13: 69,648,191 (GRCm39) H734Q probably damaging Het
Tprn T C 2: 25,153,811 (GRCm39) F371S probably damaging Het
Ttn A T 2: 76,671,652 (GRCm39) V11304E unknown Het
Ttn C T 2: 76,706,207 (GRCm39) W9171* probably null Het
Vmn2r50 A T 7: 9,784,066 (GRCm39) M136K probably null Het
Zfp518b G A 5: 38,830,415 (GRCm39) P530L probably damaging Het
Zfp941 C A 7: 140,391,970 (GRCm39) S463I possibly 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
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'- AATGTCATACAGTCTGTCTCGAC -3'
(R):5'- GCCTAGGGATTGGACAGAAC -3'

Sequencing Primer
(F):5'- TGTCTCGACAGTCAGCTGAC -3'
(R):5'- TTGGACAGAACACCATGCTG -3'
Posted On 2019-10-18