Incidental Mutation 'R3434:Ankib1'
ID 266339
Institutional Source Beutler Lab
Gene Symbol Ankib1
Ensembl Gene ENSMUSG00000040351
Gene Name ankyrin repeat and IBR domain containing 1
Synonyms 2310061P20Rik, 4631416I11Rik
MMRRC Submission 040652-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3434 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 3740000-3852925 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3742760 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1085 (V1085A)
Ref Sequence ENSEMBL: ENSMUSP00000040946 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043551] [ENSMUST00000200335]
AlphaFold Q6ZPS6
Predicted Effect probably damaging
Transcript: ENSMUST00000043551
AA Change: V1085A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000040946
Gene: ENSMUSG00000040351
AA Change: V1085A

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 noncoding transcript
Transcript: ENSMUST00000174957
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198344
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199043
Predicted Effect probably benign
Transcript: ENSMUST00000200335
SMART Domains Protein: ENSMUSP00000142687
Gene: ENSMUSG00000040351

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 0.1093 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency 98% (54/55)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 G A 17: 24,508,511 (GRCm39) A1008V probably damaging Het
Adora3 A G 3: 105,812,231 (GRCm39) K39R probably benign Het
Atp7a G A X: 105,138,463 (GRCm39) R563K probably benign Het
Azin1 T C 15: 38,493,820 (GRCm39) I268V probably benign Het
Carm1 T C 9: 21,480,769 (GRCm39) F81S probably damaging Het
Ccnjl A G 11: 43,470,688 (GRCm39) Y152C probably damaging Het
Chrna3 T A 9: 54,931,610 (GRCm39) I61F possibly damaging Het
Clca3a2 G A 3: 144,514,522 (GRCm39) probably benign Het
Clstn2 T A 9: 97,336,768 (GRCm39) D903V probably benign Het
Dpysl3 C T 18: 43,494,126 (GRCm39) V70I probably benign Het
Drg2 A T 11: 60,352,218 (GRCm39) K180* probably null Het
Dync2h1 A C 9: 7,011,236 (GRCm39) H3659Q probably benign Het
Dysf A T 6: 84,047,870 (GRCm39) Y349F probably benign Het
Epb41l4b T C 4: 57,040,865 (GRCm39) N533D probably benign Het
Fam47e T A 5: 92,733,221 (GRCm39) V152D probably damaging Het
Fasn G A 11: 120,713,599 (GRCm39) A24V probably damaging Het
Fhl4 T C 10: 84,934,308 (GRCm39) T158A probably benign Het
Fnbp1l C T 3: 122,339,955 (GRCm39) R499Q probably damaging Het
Hdlbp A T 1: 93,355,883 (GRCm39) M358K probably benign Het
Ift74 A G 4: 94,510,089 (GRCm39) probably null Het
Lhx4 A G 1: 155,578,147 (GRCm39) Y332H probably damaging Het
Mast2 A T 4: 116,165,292 (GRCm39) S1314T probably benign Het
Mast4 A G 13: 102,923,887 (GRCm39) I508T probably damaging Het
Mdn1 T C 4: 32,733,726 (GRCm39) probably null Het
Mrps23 A G 11: 88,100,940 (GRCm39) K44E probably damaging Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Mup6 G T 4: 60,004,116 (GRCm39) probably null Het
Notch3 A T 17: 32,377,592 (GRCm39) D161E possibly damaging Het
Or2ag13 A T 7: 106,472,976 (GRCm39) Y159N probably benign Het
Or4a67 T C 2: 88,598,413 (GRCm39) D82G probably damaging Het
Or5w11 T C 2: 87,459,418 (GRCm39) F204L probably benign Het
P2rx4 T A 5: 122,863,133 (GRCm39) I202K probably damaging Het
Phykpl A G 11: 51,489,482 (GRCm39) T363A probably benign Het
Pitpnm1 G A 19: 4,162,234 (GRCm39) A1047T probably damaging Het
Ppat A G 5: 77,065,912 (GRCm39) I402T probably damaging Het
Rpgr A G X: 10,042,841 (GRCm39) S656P probably benign Het
Rsbn1l T C 5: 21,110,928 (GRCm39) probably benign Het
Sacs A G 14: 61,449,752 (GRCm39) K3933E probably damaging Het
Scn7a T C 2: 66,505,847 (GRCm39) I1681V probably benign Het
Sel1l3 T C 5: 53,274,432 (GRCm39) D1016G probably benign Het
Sf3a3 C A 4: 124,618,870 (GRCm39) T277N possibly damaging Het
Slc35a5 A G 16: 44,964,396 (GRCm39) I279T probably benign Het
Slc39a10 T C 1: 46,874,877 (GRCm39) T142A probably benign Het
Tle3 T A 9: 61,321,376 (GRCm39) probably null Het
Tmem117 T C 15: 94,992,573 (GRCm39) I411T probably damaging Het
Ttn T C 2: 76,698,721 (GRCm39) T5A possibly damaging Het
Tubgcp3 T C 8: 12,708,381 (GRCm39) probably null Het
Ush2a C T 1: 188,465,955 (GRCm39) P2841L probably damaging Het
Vmn1r209 A T 13: 22,990,267 (GRCm39) M141K probably benign Het
Vmn2r91 A T 17: 18,330,370 (GRCm39) 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
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
R8712:Ankib1 UTSW 5 3,822,643 (GRCm39) missense probably benign 0.03
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'- TTCCCTGTAAGGTTAAAGTCAGCAC -3'
(R):5'- TGCCACCAGAAGACTCAGTG -3'

Sequencing Primer
(F):5'- CAGCACTGCAGTTATCATGTG -3'
(R):5'- AGTGTCCAAAGATACTGGTGTTC -3'
Posted On 2015-02-18