Incidental Mutation 'R2035:Abi3bp'
ID 224553
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 040042-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R2035 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 56298241-56510498 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 56480581 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 686 (H686L)
Ref Sequence ENSEMBL: ENSMUSP00000156180 (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: H766L

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000036257
Gene: ENSMUSG00000035258
AA Change: H766L

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: H666L

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000093711
Gene: ENSMUSG00000035258
AA Change: H666L

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: H702L

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000093712
Gene: ENSMUSG00000035258
AA Change: H702L

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: H496L

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000128818
Gene: ENSMUSG00000035258
AA Change: H496L

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 benign
Transcript: ENSMUST00000231781
AA Change: H1224L

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000231832
AA Change: H471L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000231870
AA Change: H686L

PolyPhen 2 Score 0.212 (Sensitivity: 0.92; Specificity: 0.88)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,760,761 (GRCm39) *1273Q probably null Het
Aars2 A G 17: 45,825,727 (GRCm39) I348V possibly damaging Het
Abca8b G A 11: 109,847,932 (GRCm39) R788C possibly damaging Het
Abhd15 T C 11: 77,406,536 (GRCm39) L171P probably damaging Het
Acsl1 A G 8: 46,981,621 (GRCm39) Y456C probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Ash1l T A 3: 88,973,624 (GRCm39) V2561D probably benign Het
B3galnt2 T A 13: 14,140,909 (GRCm39) F44I probably benign Het
Bicra A T 7: 15,730,338 (GRCm39) H24Q possibly damaging Het
Ccdc163 T C 4: 116,568,530 (GRCm39) S195P probably damaging Het
Cd163 A T 6: 124,297,588 (GRCm39) K911N probably damaging Het
Clcn3 A T 8: 61,387,632 (GRCm39) S179T probably damaging Het
Dctn4 T A 18: 60,671,489 (GRCm39) D120E possibly damaging Het
Dnali1 C T 4: 124,952,903 (GRCm39) V207M probably damaging Het
Dnhd1 A G 7: 105,354,128 (GRCm39) Q3036R probably damaging Het
Dst G A 1: 34,310,494 (GRCm39) R4098H probably damaging Het
Eml5 A T 12: 98,760,525 (GRCm39) N1741K probably benign Het
Enah G A 1: 181,749,537 (GRCm39) P415L probably damaging Het
Entr1 T A 2: 26,273,639 (GRCm39) S374C probably damaging Het
Ess2 A G 16: 17,727,950 (GRCm39) probably null Het
F8 ATCTCTCTC ATCTCTC X: 74,366,604 (GRCm39) probably null Het
Gm4841 T G 18: 60,402,929 (GRCm39) Y388S probably benign Het
Grin3a T C 4: 49,771,336 (GRCm39) T479A probably damaging Het
Gucy2e C A 11: 69,118,358 (GRCm39) V743L probably benign Het
Il33 T A 19: 29,932,037 (GRCm39) N143K probably damaging Het
Ism1 T A 2: 139,599,075 (GRCm39) S349R probably damaging Het
Itgb2 T A 10: 77,383,033 (GRCm39) D134E probably damaging Het
Kcnk1 A C 8: 126,752,108 (GRCm39) N238T possibly damaging Het
Kcnu1 G T 8: 26,386,721 (GRCm39) V535L probably benign Het
Muc19 T A 15: 91,776,599 (GRCm39) noncoding transcript Het
Mycbp2 A T 14: 103,497,675 (GRCm39) Y966N probably damaging Het
Myo19 A T 11: 84,788,434 (GRCm39) M349L probably benign Het
Narf G A 11: 121,129,326 (GRCm39) A37T probably benign Het
Ncapd2 T C 6: 125,161,491 (GRCm39) N208D probably benign Het
Nr1i2 A G 16: 38,071,488 (GRCm39) probably null Het
Opn5 A G 17: 42,918,052 (GRCm39) I70T probably damaging Het
Or52e19 T A 7: 102,959,463 (GRCm39) H178Q probably damaging Het
Or7a38 T C 10: 78,753,421 (GRCm39) V249A possibly damaging Het
Pkn2 G T 3: 142,526,348 (GRCm39) P410T probably damaging Het
Pla2r1 T C 2: 60,253,080 (GRCm39) N1337S probably damaging Het
Prkd3 A T 17: 79,282,802 (GRCm39) probably null Het
Pum2 T A 12: 8,778,638 (GRCm39) Y429* probably null Het
Resf1 G A 6: 149,230,724 (GRCm39) V1257I possibly damaging Het
Rttn T A 18: 89,038,340 (GRCm39) V812E probably damaging Het
Rufy2 T A 10: 62,842,526 (GRCm39) L483H probably damaging Het
Slc35a3 T A 3: 116,480,972 (GRCm39) Q97L probably damaging Het
St18 A T 1: 6,872,552 (GRCm39) M96L probably benign Het
Strc G A 2: 121,205,415 (GRCm39) A905V probably damaging Het
Syne3 T C 12: 104,924,386 (GRCm39) M338V probably benign Het
Syngr2 A G 11: 117,704,186 (GRCm39) D187G probably benign Het
Tas2r109 A C 6: 132,957,423 (GRCm39) I169R probably benign Het
Tbc1d22a T A 15: 86,275,266 (GRCm39) probably null Het
Thbs1 T A 2: 117,948,821 (GRCm39) probably null Het
Them6 C A 15: 74,593,524 (GRCm39) D127E probably damaging Het
Tmem132d T C 5: 127,869,522 (GRCm39) D604G probably damaging Het
Tnni1 A G 1: 135,733,330 (GRCm39) T51A probably benign Het
Topors T C 4: 40,262,879 (GRCm39) N135S probably damaging Het
Unc80 A T 1: 66,645,752 (GRCm39) D1476V probably damaging Het
Vmn1r17 A G 6: 57,337,573 (GRCm39) V264A probably benign Het
Vmn1r193 T A 13: 22,403,732 (GRCm39) T87S probably benign Het
Vmn1r202 C A 13: 22,685,772 (GRCm39) R215L probably damaging Het
Vmn2r24 A T 6: 123,793,019 (GRCm39) N782I probably damaging Het
Vmn2r53 A G 7: 12,332,438 (GRCm39) F404L possibly damaging Het
Xpo4 A T 14: 57,823,383 (GRCm39) C1036S possibly damaging Het
Yae1d1 T C 13: 18,164,306 (GRCm39) N104D probably benign Het
Zan C A 5: 137,442,209 (GRCm39) R1901L unknown Het
Zbtb9 G A 17: 27,193,897 (GRCm39) R434H probably damaging Het
Zdhhc23 A C 16: 43,793,871 (GRCm39) C268G 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
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'- TCTTCTGTATGCGAGCTGTC -3'
(R):5'- TGACAGCTAATTTAGTAGGCTAGG -3'

Sequencing Primer
(F):5'- TCTGTATGCGAGCTGTCATTAC -3'
(R):5'- CAGCTAATTTAGTAGGCTAGGTTTAG -3'
Posted On 2014-08-25