Incidental Mutation 'R4814:Abi3bp'
ID 369671
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 042432-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R4814 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 56298241-56510498 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 56471116 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 587 (V587G)
Ref Sequence ENSEMBL: ENSMUSP00000093712 (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: V667G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000036257
Gene: ENSMUSG00000035258
AA Change: V667G

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
AA Change: V587G

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000093712
Gene: ENSMUSG00000035258
AA Change: V587G

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 benign
Transcript: ENSMUST00000231781
AA Change: V1109G

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect probably benign
Transcript: ENSMUST00000231832
Predicted Effect probably benign
Transcript: ENSMUST00000231870
AA Change: V587G

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
Meta Mutation Damage Score 0.0967 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency 100% (79/79)
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb2 A G 2: 103,547,632 (GRCm39) D1002G probably benign Het
Acap2 A G 16: 30,926,944 (GRCm39) S524P probably benign Het
Acsm1 A T 7: 119,254,687 (GRCm39) I385L probably benign Het
Adra1a C G 14: 66,875,481 (GRCm39) A152G probably benign Het
Agbl4 A T 4: 111,513,565 (GRCm39) Y437F possibly damaging Het
Amt A G 9: 108,176,979 (GRCm39) T196A probably benign Het
Apobr G A 7: 126,185,859 (GRCm39) V457M probably benign Het
Birc6 A G 17: 74,956,667 (GRCm39) K3563E probably damaging Het
Cdadc1 AGACGGA AGA 14: 59,806,440 (GRCm39) probably null Het
Chrna9 T C 5: 66,134,492 (GRCm39) W448R probably damaging Het
Cyp4a31 A T 4: 115,427,466 (GRCm39) D224V probably damaging Het
Ddx10 C A 9: 53,115,405 (GRCm39) R643L possibly damaging Het
Dip2c A G 13: 9,586,896 (GRCm39) H200R probably benign Het
Dnah8 A T 17: 30,986,898 (GRCm39) R3182S probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Egfr T C 11: 16,819,354 (GRCm39) C295R probably damaging Het
Garem1 A T 18: 21,281,173 (GRCm39) N394K probably damaging Het
Gcat T C 15: 78,915,322 (GRCm39) probably null Het
Gckr C T 5: 31,455,644 (GRCm39) Q66* probably null Het
Gm26996 A T 6: 130,556,317 (GRCm39) noncoding transcript Het
Gm9386 C A 17: 81,246,141 (GRCm39) noncoding transcript Het
Gpr6 A T 10: 40,947,258 (GRCm39) M108K possibly damaging Het
H2-Q10 A C 17: 35,784,481 (GRCm39) probably benign Het
Hpf1 A G 8: 61,346,841 (GRCm39) D52G probably damaging Het
Jak2 A G 19: 29,279,377 (GRCm39) R989G probably damaging Het
Kat7 A G 11: 95,193,949 (GRCm39) probably benign Het
Kcnn3 G T 3: 89,570,031 (GRCm39) V615F probably damaging Het
Lgi1 G T 19: 38,289,326 (GRCm39) probably null Het
Lrrtm4 A T 6: 80,000,117 (GRCm39) T510S possibly damaging Het
Map7d1 A G 4: 126,128,114 (GRCm39) probably null Het
Mapt T C 11: 104,189,786 (GRCm39) V252A probably benign Het
Mbd4 A T 6: 115,826,260 (GRCm39) S223T possibly damaging Het
Meig1 T A 2: 3,412,959 (GRCm39) I21L probably benign Het
Mia3 A G 1: 183,113,684 (GRCm39) Y447H probably damaging Het
Mrpl46 A C 7: 78,430,343 (GRCm39) N142K probably benign Het
Myo18a C A 11: 77,750,062 (GRCm39) probably benign Het
Nup188 A G 2: 30,216,523 (GRCm39) T776A possibly damaging Het
Oas1h C A 5: 121,000,728 (GRCm39) H113N probably damaging Het
Or6c202 T A 10: 128,996,245 (GRCm39) T203S possibly damaging Het
Or7g18 A G 9: 18,787,213 (GRCm39) I197V probably benign Het
Or7g27 C T 9: 19,250,476 (GRCm39) T240M probably damaging Het
Or9i1b A T 19: 13,896,817 (GRCm39) L144F possibly damaging Het
Orc3 T A 4: 34,572,450 (GRCm39) probably benign Het
Osbpl3 T A 6: 50,329,980 (GRCm39) L65F probably damaging Het
Papola C A 12: 105,765,912 (GRCm39) P4Q probably damaging Het
Pepd A G 7: 34,645,022 (GRCm39) N151S probably damaging Het
Plekhm2 A G 4: 141,355,150 (GRCm39) L959P probably benign Het
Prpf40a A T 2: 53,080,032 (GRCm39) H82Q probably damaging Het
Robo1 C T 16: 72,768,923 (GRCm39) T496M probably benign Het
Samd9l T G 6: 3,372,863 (GRCm39) Q1466P probably damaging Het
Serpina1a T C 12: 103,821,022 (GRCm39) T342A probably benign Het
Serpina3i A G 12: 104,231,470 (GRCm39) T36A probably benign Het
Serpinb5 G T 1: 106,800,069 (GRCm39) L86F probably damaging Het
Slc35g1 A G 19: 38,391,275 (GRCm39) S186G possibly damaging Het
Slco6d1 T A 1: 98,350,899 (GRCm39) D126E probably benign Het
Smchd1 A G 17: 71,718,763 (GRCm39) probably null Het
Smpdl3a C A 10: 57,687,337 (GRCm39) T355K probably damaging Het
Sntg2 A G 12: 30,423,267 (GRCm39) probably benign Het
Sox14 T A 9: 99,757,284 (GRCm39) M152L probably benign Het
Spats2l G T 1: 57,977,085 (GRCm39) A308S possibly damaging Het
Tcf12 T C 9: 71,777,323 (GRCm39) probably benign Het
Tcf7l2 T A 19: 55,912,504 (GRCm39) C478* probably null Het
Tekt5 A G 16: 10,200,771 (GRCm39) L250P probably damaging Het
Tmem132d T G 5: 128,061,328 (GRCm39) I425L probably benign Het
Tmem174 T A 13: 98,773,456 (GRCm39) I125F probably damaging Het
Trafd1 T G 5: 121,512,079 (GRCm39) I404L probably benign Het
Trpm5 G A 7: 142,636,373 (GRCm39) P500S possibly damaging Het
Trpm6 T A 19: 18,839,576 (GRCm39) N1616K probably benign Het
Vmn1r4 A G 6: 56,933,715 (GRCm39) D73G possibly damaging Het
Vmn2r85 T A 10: 130,254,567 (GRCm39) I706F probably benign Het
Zc3h14 C G 12: 98,719,107 (GRCm39) D157E probably damaging Het
Zfp982 A G 4: 147,597,090 (GRCm39) Q149R 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
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'- GGAAGGCGTAGTCTCCATTTTG -3'
(R):5'- CATGAATCAACAGGCAACCATTTAG -3'

Sequencing Primer
(F):5'- GCGTAGTCTCCATTTTGAAAGAATGG -3'
(R):5'- CAACAGGCAACCATTTAGTTTTTAC -3'
Posted On 2016-02-04