Incidental Mutation 'R8712:Ankib1'
ID 669627
Institutional Source Beutler Lab
Gene Symbol Ankib1
Ensembl Gene ENSMUSG00000040351
Gene Name ankyrin repeat and IBR domain containing 1
Synonyms 2310061P20Rik, 4631416I11Rik
MMRRC Submission 068566-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8712 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 3740000-3852925 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 3822643 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 21 (C21F)
Ref Sequence ENSEMBL: ENSMUSP00000040946 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043551] [ENSMUST00000200335]
AlphaFold Q6ZPS6
Predicted Effect probably benign
Transcript: ENSMUST00000043551
AA Change: C21F

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000040946
Gene: ENSMUSG00000040351
AA Change: C21F

DomainStartEndE-ValueType
ANK 45 75 7.08e-1 SMART
ANK 145 174 2.32e-5 SMART
low complexity region 209 219 N/A INTRINSIC
low complexity region 304 319 N/A INTRINSIC
RING 334 382 9.73e-2 SMART
IBR 403 479 8.72e-12 SMART
IBR 502 566 2.59e-5 SMART
RING 520 644 2.36e0 SMART
low complexity region 764 773 N/A INTRINSIC
low complexity region 808 822 N/A INTRINSIC
UIM 846 865 3.62e-1 SMART
low complexity region 905 917 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000200335
AA Change: C21F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000142687
Gene: ENSMUSG00000040351
AA Change: C21F

DomainStartEndE-ValueType
ANK 45 75 4.5e-3 SMART
ANK 145 174 1.4e-7 SMART
low complexity region 209 219 N/A INTRINSIC
low complexity region 304 319 N/A INTRINSIC
RING 334 382 4.6e-4 SMART
IBR 403 479 2.9e-14 SMART
IBR 502 566 8.3e-8 SMART
RING 520 644 1.1e-2 SMART
low complexity region 768 779 N/A INTRINSIC
Meta Mutation Damage Score 0.0634 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (75/75)
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts1 A T 16: 85,594,896 (GRCm39) N617K probably benign Het
Adnp2 A T 18: 80,174,185 (GRCm39) C75S probably damaging Het
Agmo T C 12: 37,407,673 (GRCm39) F186L possibly damaging Het
Ahnak2 T C 12: 112,749,872 (GRCm39) Y122C Het
Ahnak2 T C 12: 112,750,709 (GRCm39) E71G Het
Aldh5a1 A G 13: 25,102,524 (GRCm39) V313A probably damaging Het
Aqr A G 2: 113,949,358 (GRCm39) Y947H probably damaging Het
Atp1a2 T A 1: 172,103,547 (GRCm39) Y991F probably benign Het
Atp8b3 G A 10: 80,365,923 (GRCm39) T309M possibly damaging Het
Blzf1 T A 1: 164,125,859 (GRCm39) D259V possibly damaging Het
Cacng5 T C 11: 107,772,510 (GRCm39) I113V probably benign Het
Catsper3 T C 13: 55,953,657 (GRCm39) M269T probably benign Het
Ccdc142 A C 6: 83,079,233 (GRCm39) Y190S probably damaging Het
Ccdc159 C A 9: 21,845,051 (GRCm39) Q306K probably benign Het
Ccdc180 A T 4: 45,920,842 (GRCm39) probably null Het
Cebpz A G 17: 79,229,081 (GRCm39) F955S possibly damaging Het
Cftr C T 6: 18,274,696 (GRCm39) T938I probably damaging Het
Col28a1 T C 6: 8,013,133 (GRCm39) K973R probably benign Het
Cyp2c29 T C 19: 39,310,138 (GRCm39) probably benign Het
Ddx1 A G 12: 13,293,859 (GRCm39) probably benign Het
Duox2 A C 2: 122,119,826 (GRCm39) Y867* probably null Het
Ereg T C 5: 91,237,013 (GRCm39) Y111H possibly damaging Het
Esrrb T A 12: 86,565,724 (GRCm39) L417Q probably damaging Het
Fbxw7 G A 3: 84,859,684 (GRCm39) R2H unknown Het
Galnt6 C T 15: 100,592,501 (GRCm39) V569I probably benign Het
Gm14226 G A 2: 154,866,094 (GRCm39) C17Y unknown Het
Gpr150 T G 13: 76,204,642 (GRCm39) D101A probably damaging Het
Grm1 A T 10: 10,565,296 (GRCm39) L1004Q probably benign Het
Gtf2a1l T A 17: 89,022,351 (GRCm39) D447E probably damaging Het
Gtf2ird1 C T 5: 134,444,064 (GRCm39) V64M probably damaging Het
Ifi206 A T 1: 173,308,074 (GRCm39) W641R Het
Ifi214 T A 1: 173,355,486 (GRCm39) E107D possibly damaging Het
Kif19a T C 11: 114,675,599 (GRCm39) V357A probably damaging Het
Klhdc7b T A 15: 89,271,025 (GRCm39) S636T probably benign Het
Klhl25 C T 7: 75,515,420 (GRCm39) R109C probably damaging Het
Ltbp2 T C 12: 84,853,124 (GRCm39) E835G probably benign Het
Marchf1 A G 8: 66,921,000 (GRCm39) K226E probably damaging Het
Mcpt1 T C 14: 56,256,170 (GRCm39) probably benign Het
Myrf C A 19: 10,192,434 (GRCm39) R639L probably benign Het
Naip5 T C 13: 100,359,604 (GRCm39) H544R possibly damaging Het
Nccrp1 T C 7: 28,245,769 (GRCm39) I132V probably benign Het
Nprl3 C T 11: 32,187,334 (GRCm39) V333I possibly damaging Het
Or13a25 C T 7: 140,248,052 (GRCm39) S277L possibly damaging Het
Or14n1-ps1 T C 7: 86,092,923 (GRCm39) S245P probably damaging Het
Or2o1 T C 11: 49,051,297 (GRCm39) M152T probably benign Het
Or2y1 T A 11: 49,385,671 (GRCm39) S104T probably benign Het
Or4b1d A T 2: 89,969,114 (GRCm39) I123N probably damaging Het
Or4f62 A T 2: 111,986,934 (GRCm39) I213F probably damaging Het
Or52h1 T C 7: 103,829,025 (GRCm39) N197D probably damaging Het
Or56a41 C A 7: 104,741,808 (GRCm39) V73F possibly damaging Het
Or8c15 T C 9: 38,121,099 (GRCm39) V248A probably benign Het
Or8d6 T C 9: 39,853,891 (GRCm39) S112P probably damaging Het
Otx2 A G 14: 48,896,521 (GRCm39) M179T probably damaging Het
Pmfbp1 A G 8: 110,265,309 (GRCm39) probably benign Het
Ppfia3 T A 7: 45,011,129 (GRCm39) T34S probably benign Het
Prkcsh T C 9: 21,924,375 (GRCm39) Y502H probably damaging Het
Psd T C 19: 46,301,775 (GRCm39) E937G probably damaging Het
Rbbp6 T A 7: 122,600,976 (GRCm39) I1661N unknown Het
Rhobtb1 T A 10: 69,106,587 (GRCm39) M446K probably damaging Het
Sall3 T C 18: 81,017,236 (GRCm39) I231V probably benign Het
Slc12a9 C T 5: 137,325,916 (GRCm39) V270I probably damaging Het
Slc6a15 A G 10: 103,225,112 (GRCm39) K67E probably damaging Het
Slc9c1 A G 16: 45,380,646 (GRCm39) D524G probably benign Het
Smpdl3a A G 10: 57,687,526 (GRCm39) D418G probably benign Het
Sox6 T C 7: 115,196,743 (GRCm39) T296A probably benign Het
Ssu2 T C 6: 112,361,399 (GRCm39) E19G probably damaging Het
Tctn3 T C 19: 40,600,170 (GRCm39) N90S probably damaging Het
Tex24 A G 8: 27,834,652 (GRCm39) Q60R possibly damaging Het
Tlcd1 T A 11: 78,070,470 (GRCm39) *128R probably null Het
Tti1 A C 2: 157,834,930 (GRCm39) L1010R probably damaging Het
Ttn A G 2: 76,567,682 (GRCm39) L27737P probably damaging Het
Ubqln5 T A 7: 103,778,322 (GRCm39) K167N probably benign Het
Unkl A G 17: 25,450,689 (GRCm39) I492V possibly damaging Het
Vmn1r8 G A 6: 57,013,665 (GRCm39) V239I probably benign Het
Vmn2r101 T A 17: 19,811,397 (GRCm39) L494I probably benign Het
Vmn2r54 G T 7: 12,369,877 (GRCm39) T62K probably benign Het
Other mutations in Ankib1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00226:Ankib1 APN 5 3,777,573 (GRCm39) missense probably benign 0.20
IGL01329:Ankib1 APN 5 3,784,194 (GRCm39) splice site probably benign
IGL01372:Ankib1 APN 5 3,822,594 (GRCm39) missense probably damaging 1.00
IGL01593:Ankib1 APN 5 3,782,590 (GRCm39) missense probably benign 0.00
IGL01613:Ankib1 APN 5 3,763,146 (GRCm39) nonsense probably null
IGL01728:Ankib1 APN 5 3,751,992 (GRCm39) splice site probably benign
IGL01782:Ankib1 APN 5 3,777,607 (GRCm39) missense probably damaging 1.00
IGL01878:Ankib1 APN 5 3,784,152 (GRCm39) missense possibly damaging 0.69
IGL02730:Ankib1 APN 5 3,752,995 (GRCm39) missense probably damaging 1.00
IGL02742:Ankib1 APN 5 3,743,479 (GRCm39) missense probably benign 0.04
IGL02873:Ankib1 APN 5 3,822,619 (GRCm39) missense probably damaging 1.00
R0033:Ankib1 UTSW 5 3,819,588 (GRCm39) missense possibly damaging 0.52
R0242:Ankib1 UTSW 5 3,750,344 (GRCm39) splice site probably benign
R0564:Ankib1 UTSW 5 3,779,655 (GRCm39) missense probably damaging 0.99
R0632:Ankib1 UTSW 5 3,822,529 (GRCm39) missense probably benign 0.02
R0732:Ankib1 UTSW 5 3,763,163 (GRCm39) missense possibly damaging 0.89
R1678:Ankib1 UTSW 5 3,756,301 (GRCm39) missense probably damaging 0.99
R1816:Ankib1 UTSW 5 3,784,028 (GRCm39) missense probably benign 0.05
R2165:Ankib1 UTSW 5 3,763,210 (GRCm39) missense possibly damaging 0.69
R3434:Ankib1 UTSW 5 3,742,760 (GRCm39) missense probably damaging 1.00
R3749:Ankib1 UTSW 5 3,784,097 (GRCm39) missense probably damaging 0.98
R4745:Ankib1 UTSW 5 3,782,566 (GRCm39) missense probably damaging 1.00
R4827:Ankib1 UTSW 5 3,751,907 (GRCm39) missense probably damaging 1.00
R4983:Ankib1 UTSW 5 3,819,652 (GRCm39) missense probably benign 0.09
R4989:Ankib1 UTSW 5 3,763,217 (GRCm39) missense probably damaging 0.99
R5022:Ankib1 UTSW 5 3,784,011 (GRCm39) missense possibly damaging 0.96
R5057:Ankib1 UTSW 5 3,784,011 (GRCm39) missense possibly damaging 0.96
R5510:Ankib1 UTSW 5 3,779,693 (GRCm39) missense probably benign 0.02
R5606:Ankib1 UTSW 5 3,751,907 (GRCm39) missense probably damaging 1.00
R5910:Ankib1 UTSW 5 3,743,217 (GRCm39) missense probably benign
R5929:Ankib1 UTSW 5 3,819,633 (GRCm39) missense possibly damaging 0.86
R5986:Ankib1 UTSW 5 3,797,071 (GRCm39) missense probably damaging 1.00
R6281:Ankib1 UTSW 5 3,751,965 (GRCm39) missense possibly damaging 0.70
R6336:Ankib1 UTSW 5 3,750,377 (GRCm39) nonsense probably null
R6377:Ankib1 UTSW 5 3,743,855 (GRCm39) missense possibly damaging 0.78
R7001:Ankib1 UTSW 5 3,744,781 (GRCm39) missense probably benign
R7264:Ankib1 UTSW 5 3,805,739 (GRCm39) missense probably damaging 1.00
R7380:Ankib1 UTSW 5 3,772,576 (GRCm39) missense probably benign 0.03
R7402:Ankib1 UTSW 5 3,819,586 (GRCm39) missense probably benign 0.01
R7491:Ankib1 UTSW 5 3,751,911 (GRCm39) missense probably damaging 1.00
R7525:Ankib1 UTSW 5 3,805,734 (GRCm39) missense possibly damaging 0.95
R7562:Ankib1 UTSW 5 3,797,021 (GRCm39) missense probably null 1.00
R8116:Ankib1 UTSW 5 3,752,995 (GRCm39) missense probably damaging 1.00
R8347:Ankib1 UTSW 5 3,797,065 (GRCm39) missense probably damaging 1.00
R8750:Ankib1 UTSW 5 3,752,890 (GRCm39) critical splice donor site probably null
R8854:Ankib1 UTSW 5 3,777,489 (GRCm39) missense probably null 0.97
R9032:Ankib1 UTSW 5 3,819,641 (GRCm39) missense probably benign 0.16
R9180:Ankib1 UTSW 5 3,756,276 (GRCm39) missense probably damaging 1.00
R9325:Ankib1 UTSW 5 3,822,523 (GRCm39) missense possibly damaging 0.81
R9474:Ankib1 UTSW 5 3,805,617 (GRCm39) missense probably damaging 0.98
R9504:Ankib1 UTSW 5 3,763,235 (GRCm39) missense probably benign
R9564:Ankib1 UTSW 5 3,805,733 (GRCm39) missense possibly damaging 0.87
Z1088:Ankib1 UTSW 5 3,763,137 (GRCm39) nonsense probably null
Z1088:Ankib1 UTSW 5 3,763,136 (GRCm39) missense probably damaging 1.00
Z1176:Ankib1 UTSW 5 3,742,763 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GATCATGTAACATGGACAAGTCTC -3'
(R):5'- TACAGCCTAACTTGGTAACTTCTC -3'

Sequencing Primer
(F):5'- TCAGAGATCACAAGCGTTTTCC -3'
(R):5'- GGTAACTTCTCCTTCATTAGAATGTG -3'
Posted On 2021-04-30