Incidental Mutation 'R2118:Abi3bp'
ID 231239
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 040122-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R2118 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 56298241-56510498 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 56298227 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
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 noncoding transcript
Transcript: ENSMUST00000231337
Predicted Effect probably benign
Transcript: ENSMUST00000231781
Predicted Effect probably benign
Transcript: ENSMUST00000231832
Predicted Effect probably benign
Transcript: ENSMUST00000231870
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (90/90)
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020L24Rik T C 11: 83,331,190 (GRCm39) S31P possibly damaging Het
4933430I17Rik T A 4: 62,457,109 (GRCm39) L143M possibly damaging Het
Abca13 T C 11: 9,259,013 (GRCm39) probably benign Het
Abcg5 T A 17: 84,978,575 (GRCm39) E294D probably benign Het
Adamts8 T C 9: 30,854,359 (GRCm39) F76S probably damaging Het
Agpat3 T C 10: 78,113,918 (GRCm39) R257G probably damaging Het
Ahctf1 C A 1: 179,597,017 (GRCm39) R43L probably damaging Het
AI593442 T C 9: 52,588,993 (GRCm39) T195A probably benign Het
Aipl1 A T 11: 71,920,195 (GRCm39) L291Q possibly damaging Het
Ambn T A 5: 88,608,617 (GRCm39) probably benign Het
Arap2 G A 5: 62,864,028 (GRCm39) T532I probably damaging Het
Arg1 T C 10: 24,796,621 (GRCm39) N69D possibly damaging Het
Arhgef10 A G 8: 14,984,820 (GRCm39) D200G probably damaging Het
Arhgef38 T C 3: 132,866,514 (GRCm39) K208E probably benign Het
Asb4 A T 6: 5,390,687 (GRCm39) T27S probably benign Het
Ash1l C G 3: 88,892,602 (GRCm39) Q1494E possibly damaging Het
Car12 T C 9: 66,621,174 (GRCm39) V15A probably benign Het
Cdc20b A G 13: 113,215,232 (GRCm39) I267V probably benign Het
Cdh1 A G 8: 107,390,842 (GRCm39) I653V probably benign Het
Cenpe T A 3: 134,952,645 (GRCm39) M1445K possibly damaging Het
Cfap43 T C 19: 47,758,877 (GRCm39) E932G probably damaging Het
Cfhr1 G C 1: 139,478,642 (GRCm39) Q243E probably benign Het
Cnih2 C A 19: 5,148,276 (GRCm39) A6S possibly damaging Het
Cntnap1 G T 11: 101,079,483 (GRCm39) M1240I probably benign Het
Cntrl T C 2: 35,051,977 (GRCm39) S1050P probably benign Het
Cyp2a12 A G 7: 26,736,071 (GRCm39) *493W probably null Het
Dbx2 A C 15: 95,522,681 (GRCm39) L342R probably damaging Het
Dmd G C X: 83,356,089 (GRCm39) A2257P probably benign Het
Dnajb2 T C 1: 75,214,121 (GRCm39) W30R probably damaging Het
Ecel1 A G 1: 87,075,997 (GRCm39) S727P probably damaging Het
Ednrb T A 14: 104,059,204 (GRCm39) D274V probably benign Het
Fam78b G A 1: 166,906,278 (GRCm39) V146M probably damaging Het
Fancd2 A G 6: 113,537,035 (GRCm39) probably benign Het
Fbxw14 T C 9: 109,103,692 (GRCm39) probably benign Het
Gimap4 G T 6: 48,667,905 (GRCm39) C92F probably benign Het
Gm10033 A C 8: 69,824,942 (GRCm39) noncoding transcript Het
Gm5828 A G 1: 16,840,199 (GRCm39) noncoding transcript Het
Gnpat T C 8: 125,603,680 (GRCm39) V186A probably damaging Het
Gnptab T C 10: 88,272,260 (GRCm39) S967P probably benign Het
Ikbkb T C 8: 23,157,233 (GRCm39) probably benign Het
Il1rap A T 16: 26,529,315 (GRCm39) H379L probably damaging Het
Ints12 T C 3: 132,814,921 (GRCm39) V376A probably damaging Het
Kalrn C T 16: 34,152,600 (GRCm39) S309N possibly damaging Het
Kel T A 6: 41,666,234 (GRCm39) I471L probably benign Het
Klhl25 T C 7: 75,516,480 (GRCm39) V462A probably damaging Het
Ksr1 A T 11: 78,936,019 (GRCm39) M77K probably benign Het
Leo1 T A 9: 75,353,094 (GRCm39) N212K probably damaging Het
Ltbp1 T A 17: 75,617,154 (GRCm39) V1031E possibly damaging Het
Ltbr A G 6: 125,286,440 (GRCm39) S249P probably benign Het
Mast4 A G 13: 102,890,713 (GRCm39) V855A probably damaging Het
Mdga2 T A 12: 66,915,526 (GRCm39) E43V probably damaging Het
Mmaa A T 8: 79,994,588 (GRCm39) L406* probably null Het
Mtcl2 T C 2: 156,875,245 (GRCm39) E835G probably damaging Het
Nlrp12 A T 7: 3,290,079 (GRCm39) N144K probably damaging Het
Nlrp6 T C 7: 140,506,357 (GRCm39) V766A probably benign Het
Or4f61 C A 2: 111,922,675 (GRCm39) V124L probably benign Het
Or5h18 A G 16: 58,848,178 (GRCm39) F31L possibly damaging Het
Pabpc4l T C 3: 46,401,276 (GRCm39) T123A probably benign Het
Pappa2 T C 1: 158,684,836 (GRCm39) T768A probably damaging Het
Pde6d A G 1: 86,473,524 (GRCm39) F91L probably benign Het
Ppp1r13l A G 7: 19,105,346 (GRCm39) M373V possibly damaging Het
Prss37 G A 6: 40,492,294 (GRCm39) R186* probably null Het
Psg16 C A 7: 16,824,548 (GRCm39) H111N probably benign Het
Psg20 T A 7: 18,414,947 (GRCm39) Y316F probably benign Het
Psmd1 T A 1: 86,006,422 (GRCm39) S263T possibly damaging Het
Rai14 A G 15: 10,575,252 (GRCm39) F569L probably benign Het
Rbpms2 T A 9: 65,558,229 (GRCm39) D116E probably damaging Het
Rgs20 A G 1: 4,987,113 (GRCm39) probably benign Het
Rnf114 T C 2: 167,352,803 (GRCm39) L101P probably damaging Het
Rnf168 T G 16: 32,097,036 (GRCm39) L37R probably damaging Het
Rpe T C 1: 66,754,387 (GRCm39) M153T probably damaging Het
Sap18 T A 14: 58,036,011 (GRCm39) S66T probably damaging Het
Slc2a13 A G 15: 91,400,679 (GRCm39) V181A probably damaging Het
Spag17 A G 3: 99,956,556 (GRCm39) E884G possibly damaging Het
Sycn T C 7: 28,240,713 (GRCm39) S127P probably damaging Het
Tas2r106 A T 6: 131,655,317 (GRCm39) L178H probably damaging Het
Tas2r117 T A 6: 132,780,129 (GRCm39) I89K probably damaging Het
Tep1 C A 14: 51,093,029 (GRCm39) probably null Het
Tex14 T C 11: 87,410,569 (GRCm39) probably benign Het
Tll1 T C 8: 64,538,591 (GRCm39) E351G probably benign Het
Tmem44 T A 16: 30,366,262 (GRCm39) K55* probably null Het
Trak1 T A 9: 121,302,063 (GRCm39) *940R probably null Het
Vmn1r200 C T 13: 22,579,353 (GRCm39) T43I probably damaging Het
Wars2 T C 3: 99,123,883 (GRCm39) V248A probably benign Het
Wfdc6b C T 2: 164,459,363 (GRCm39) R142C probably benign Het
Zfp729a A T 13: 67,769,613 (GRCm39) probably null Het
Zfp759 C A 13: 67,287,578 (GRCm39) probably benign 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
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'- CTGTTGCAGCATTGGAGAGG -3'
(R):5'- AGGACCTTTGACTCTCTGCAG -3'

Sequencing Primer
(F):5'- AGGGAAATGTGATGATATGTTTTTGC -3'
(R):5'- ATTCCCCCATATTGTACAGCAG -3'
Posted On 2014-09-18