Incidental Mutation 'R7194:Abi3bp'
ID 559819
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 045335-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R7194 (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 56382734 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 115 (R115C)
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: R115C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000036257
Gene: ENSMUSG00000035258
AA Change: R115C

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 damaging
Transcript: ENSMUST00000096012
AA Change: R115C

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000093711
Gene: ENSMUSG00000035258
AA Change: R115C

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: R115C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000093712
Gene: ENSMUSG00000035258
AA Change: R115C

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: R115C

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000128818
Gene: ENSMUSG00000035258
AA Change: R115C

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: R115C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000231832
AA Change: R115C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000231870
AA Change: R115C

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (70/70)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadat A G 8: 60,979,656 (GRCm39) I173V probably benign Het
Adam18 A G 8: 25,141,868 (GRCm39) S234P possibly damaging Het
Adam20 A G 8: 41,249,449 (GRCm39) R520G probably benign Het
Angel2 C G 1: 190,677,194 (GRCm39) T514R probably damaging Het
Ankar A T 1: 72,698,192 (GRCm39) I954N probably benign Het
Ankrd7 A T 6: 18,879,342 (GRCm39) Y262F probably benign Het
Ano8 C A 8: 71,935,007 (GRCm39) L398F possibly damaging Het
App C T 16: 84,822,319 (GRCm39) V356I probably benign Het
Atp1a2 C A 1: 172,108,194 (GRCm39) E636* probably null Het
Cckbr G A 7: 105,084,552 (GRCm39) E429K possibly damaging Het
Cfi T G 3: 129,648,708 (GRCm39) S197R probably damaging Het
Chn2 A G 6: 54,263,162 (GRCm39) probably null Het
Col3a1 C A 1: 45,370,860 (GRCm39) A405D unknown Het
Colec12 A T 18: 9,848,248 (GRCm39) N142I probably benign Het
Copa T C 1: 171,947,511 (GRCm39) L1109P probably damaging Het
Cpeb3 T A 19: 37,152,152 (GRCm39) M75L probably benign Het
Cyp2d11 T C 15: 82,275,969 (GRCm39) Y204C probably benign Het
Defa17 A G 8: 22,146,613 (GRCm39) T80A probably benign Het
Dnaaf9 C A 2: 130,648,708 (GRCm39) R258L unknown Het
Dppa5a C T 9: 78,275,002 (GRCm39) probably null Het
Fat4 G T 3: 38,943,033 (GRCm39) S642I probably damaging Het
Fat4 T A 3: 39,038,044 (GRCm39) C3899S probably damaging Het
Fn1 A G 1: 71,641,482 (GRCm39) V1869A probably damaging Het
Gm10308 A T 17: 91,396,389 (GRCm39) I104L unknown Het
Gpr139 C T 7: 118,743,896 (GRCm39) A230T possibly damaging Het
Grm8 T C 6: 27,618,486 (GRCm39) N452S probably benign Het
Hmox1 T C 8: 75,823,551 (GRCm39) V73A probably benign Het
Hspa4 A G 11: 53,156,765 (GRCm39) F641L probably damaging Het
Ifi207 T G 1: 173,557,490 (GRCm39) H416P possibly damaging Het
Igkv10-96 G T 6: 68,609,028 (GRCm39) T89K possibly damaging Het
Kmt2d A C 15: 98,741,714 (GRCm39) V4482G unknown Het
Krt28 T A 11: 99,265,230 (GRCm39) K146* probably null Het
Krt82 T C 15: 101,451,191 (GRCm39) N406S probably damaging Het
Marveld3 A T 8: 110,686,477 (GRCm39) probably null Het
Mllt6 C T 11: 97,564,394 (GRCm39) S370L probably benign Het
Muc16 A G 9: 18,585,750 (GRCm39) L26S unknown Het
Mup12 T A 4: 60,696,734 (GRCm39) E48V probably benign Het
Myh1 G A 11: 67,102,183 (GRCm39) V825I probably benign Het
Nipal3 G A 4: 135,201,732 (GRCm39) T152I probably benign Het
Nrg3 A T 14: 39,194,435 (GRCm39) M108K probably benign Het
Nup50l T G 6: 96,141,756 (GRCm39) E429D probably benign Het
Oog3 A T 4: 143,889,169 (GRCm39) I3N probably damaging Het
Or10d4c G A 9: 39,558,387 (GRCm39) V122I probably benign Het
Pira13 A G 7: 3,827,792 (GRCm39) W122R Het
Pkhd1l1 T C 15: 44,392,512 (GRCm39) C1616R probably damaging Het
Ppa2 T A 3: 133,053,953 (GRCm39) probably null Het
Ppfibp2 T A 7: 107,322,187 (GRCm39) probably null Het
Ppp4c T C 7: 126,385,653 (GRCm39) N229D probably damaging Het
Ptpn9 T C 9: 56,929,570 (GRCm39) F96L probably damaging Het
Pygl A G 12: 70,241,094 (GRCm39) V742A probably benign Het
Ranbp2 A G 10: 58,312,591 (GRCm39) T1104A probably benign Het
Rasal1 G A 5: 120,813,557 (GRCm39) A644T probably benign Het
Rcor3 T A 1: 191,810,261 (GRCm39) T139S possibly damaging Het
Rfx5 T A 3: 94,862,454 (GRCm39) I37N probably damaging Het
Rnf112 C T 11: 61,341,683 (GRCm39) G374R probably damaging Het
Rrp12 T C 19: 41,859,979 (GRCm39) I1034V probably benign Het
Sacs T A 14: 61,447,538 (GRCm39) Y3195N possibly damaging Het
Scn4a A G 11: 106,215,062 (GRCm39) I1243T probably benign Het
Sirt7 A T 11: 120,509,799 (GRCm39) C362S probably benign Het
Slc17a6 T A 7: 51,276,640 (GRCm39) S130T probably damaging Het
Snrnp48 A C 13: 38,393,875 (GRCm39) Y60S probably damaging Het
Syne1 T C 10: 5,060,859 (GRCm39) E7260G probably damaging Het
Trbv15 C T 6: 41,118,529 (GRCm39) T95I probably benign Het
Trip12 A T 1: 84,771,943 (GRCm39) N68K probably benign Het
Ugcg A G 4: 59,213,210 (GRCm39) Y132C probably damaging Het
Usp9y A T Y: 1,304,672 (GRCm39) C2391S probably damaging Het
Vmn1r103 C A 7: 20,244,438 (GRCm39) V8L probably benign Het
Vmn2r15 T A 5: 109,440,649 (GRCm39) N403I probably damaging Het
Zbtb11 T C 16: 55,827,551 (GRCm39) S1006P 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
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'- GGGAAAGGAATGTCATCTTTCTAAGTC -3'
(R):5'- AGGGTCCAAAGTTTGTGCATTTTC -3'

Sequencing Primer
(F):5'- TGGGAATATGCCTCCATGAGATCC -3'
(R):5'- GTCCAAAGTTTGTGCATTTTCCTATG -3'
Posted On 2019-06-26