Incidental Mutation 'R6336:Ankib1'
ID 510750
Institutional Source Beutler Lab
Gene Symbol Ankib1
Ensembl Gene ENSMUSG00000040351
Gene Name ankyrin repeat and IBR domain containing 1
Synonyms 2310061P20Rik, 4631416I11Rik
MMRRC Submission 044490-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6336 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 3740000-3852925 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 3750377 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 755 (Y755*)
Ref Sequence ENSEMBL: ENSMUSP00000142687 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043551] [ENSMUST00000200335]
AlphaFold Q6ZPS6
Predicted Effect probably null
Transcript: ENSMUST00000043551
AA Change: Y755*
SMART Domains Protein: ENSMUSP00000040946
Gene: ENSMUSG00000040351
AA Change: Y755*

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: ENSMUST00000199043
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200052
Predicted Effect probably null
Transcript: ENSMUST00000200335
AA Change: Y755*
SMART Domains Protein: ENSMUSP00000142687
Gene: ENSMUSG00000040351
AA Change: Y755*

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 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 98% (45/46)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik G T 5: 113,331,349 (GRCm39) P955Q possibly damaging Het
Adgrv1 T C 13: 81,534,100 (GRCm39) N5827S probably benign Het
Akt3 T C 1: 176,859,278 (GRCm39) D431G probably damaging Het
Anapc16 A T 10: 59,824,651 (GRCm39) V76D possibly damaging Het
Ankrd6 A G 4: 32,860,411 (GRCm39) S11P probably damaging Het
Card6 T A 15: 5,128,646 (GRCm39) K917* probably null Het
Ccdc152 T C 15: 3,330,611 (GRCm39) I21M probably damaging Het
Ccdc40 A G 11: 119,122,819 (GRCm39) E207G possibly damaging Het
Clca3a2 G T 3: 144,512,239 (GRCm39) A499E probably benign Het
Cntnap5b C T 1: 100,286,394 (GRCm39) A383V probably benign Het
Ddo T C 10: 40,509,027 (GRCm39) V89A probably damaging Het
Depdc5 T C 5: 33,121,851 (GRCm39) 176 probably null Het
Dlgap1 T A 17: 71,122,284 (GRCm39) D904E probably damaging Het
Ephb4 T A 5: 137,370,347 (GRCm39) L849H probably damaging Het
Fbxl13 A G 5: 21,728,545 (GRCm39) probably null Het
Fer1l6 C A 15: 58,431,081 (GRCm39) Y245* probably null Het
Foxred2 A G 15: 77,839,964 (GRCm39) Y109H probably damaging Het
Gabarapl1 A G 6: 129,514,491 (GRCm39) D43G probably benign Het
Gabrb1 A C 5: 72,187,241 (GRCm39) E178A possibly damaging Het
Gbp11 A G 5: 105,473,355 (GRCm39) Het
Grin3b C A 10: 79,812,295 (GRCm39) A845E probably damaging Het
Hoxd4 A G 2: 74,557,705 (GRCm39) Y28C probably damaging Het
Igsf10 G A 3: 59,237,760 (GRCm39) T807M probably benign Het
Kcnt1 A G 2: 25,778,767 (GRCm39) probably null Het
Kdm5a C A 6: 120,375,939 (GRCm39) T565K probably damaging Het
Map7d1 A G 4: 126,130,475 (GRCm39) S412P probably damaging Het
Mok A G 12: 110,800,558 (GRCm39) probably null Het
Mto1 A T 9: 78,381,117 (GRCm39) I73F probably damaging Het
Mtss2 G A 8: 111,458,796 (GRCm39) D310N probably damaging Het
Ncf2 T C 1: 152,709,821 (GRCm39) Y393H probably damaging Het
Or13c25 A T 4: 52,911,459 (GRCm39) C112S probably damaging Het
Or2f1b T C 6: 42,739,591 (GRCm39) S202P probably damaging Het
Or2y14 G T 11: 49,405,369 (GRCm39) K301N probably damaging Het
Or4f47 A C 2: 111,972,751 (GRCm39) I154L probably benign Het
Or4k49 A G 2: 111,494,964 (GRCm39) H131R possibly damaging Het
Or52z1 T C 7: 103,437,452 (GRCm39) T11A possibly damaging Het
Phxr2 T A 10: 98,961,952 (GRCm39) probably benign Het
Potefam3f A G 8: 20,499,951 (GRCm39) K242E unknown Het
Rnf17 A G 14: 56,658,626 (GRCm39) probably null Het
Serpinb9d T C 13: 33,378,677 (GRCm39) M41T probably damaging Het
Slc12a5 T A 2: 164,834,384 (GRCm39) probably null Het
Slc22a6 G A 19: 8,599,494 (GRCm39) R331H probably benign Het
Spg11 G C 2: 121,943,440 (GRCm39) probably null Het
Src T A 2: 157,299,075 (GRCm39) V24E probably benign Het
Srgap1 A T 10: 121,761,846 (GRCm39) Y101N probably benign Het
Vmn2r30 T A 7: 7,337,307 (GRCm39) T110S probably benign Het
Vwa3a A G 7: 120,361,646 (GRCm39) E119G possibly damaging Het
Whamm T A 7: 81,241,512 (GRCm39) D274E probably damaging 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
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'- GCGGACTGCACTATAAGAGAGA -3'
(R):5'- AACACTTTCATGCATCACAGTTATT -3'

Sequencing Primer
(F):5'- AGCTGCATGCAGGGTGTAC -3'
(R):5'- GTACTATCCCAAGGGTAAGG -3'
Posted On 2018-04-02