Incidental Mutation 'R0732:Ankib1'
ID 67627
Institutional Source Beutler Lab
Gene Symbol Ankib1
Ensembl Gene ENSMUSG00000040351
Gene Name ankyrin repeat and IBR domain containing 1
Synonyms 2310061P20Rik, 4631416I11Rik
MMRRC Submission 038913-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0732 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 3740000-3852925 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3763163 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 522 (N522S)
Ref Sequence ENSEMBL: ENSMUSP00000142687 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043551] [ENSMUST00000200335]
AlphaFold Q6ZPS6
Predicted Effect possibly damaging
Transcript: ENSMUST00000043551
AA Change: N522S

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000040946
Gene: ENSMUSG00000040351
AA Change: N522S

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 possibly damaging
Transcript: ENSMUST00000200335
AA Change: N522S

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000142687
Gene: ENSMUSG00000040351
AA Change: N522S

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
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 94.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,523,411 (GRCm39) Y1175C probably damaging Het
Acsm3 T C 7: 119,373,057 (GRCm39) S187P probably benign Het
Adam28 T C 14: 68,874,796 (GRCm39) I294V probably benign Het
Adgrv1 T C 13: 81,651,123 (GRCm39) I3057M possibly damaging Het
Aff4 T C 11: 53,266,423 (GRCm39) V304A probably benign Het
Akr1b10 T C 6: 34,367,044 (GRCm39) Y108H probably benign Het
Ano1 T A 7: 144,173,225 (GRCm39) probably null Het
Antxr2 G T 5: 98,108,567 (GRCm39) probably null Het
Arc G A 15: 74,543,044 (GRCm39) T393I probably damaging Het
Arhgef33 A G 17: 80,688,783 (GRCm39) D5G possibly damaging Het
Atf2 A T 2: 73,675,844 (GRCm39) M169K possibly damaging Het
BC005624 T A 2: 30,863,949 (GRCm39) T215S possibly damaging Het
Bmp8b G A 4: 122,999,199 (GRCm39) G19D unknown Het
Cacna1d T C 14: 29,764,877 (GRCm39) N1987S probably damaging Het
Camta1 T A 4: 151,670,941 (GRCm39) probably null Het
Catsperg2 C T 7: 29,400,121 (GRCm39) G316D probably damaging Het
Cbs G T 17: 31,844,003 (GRCm39) N209K probably benign Het
Ccdc122 T A 14: 77,329,199 (GRCm39) M84K probably damaging Het
Cd5 C T 19: 10,700,649 (GRCm39) C285Y probably damaging Het
Chpf2 T C 5: 24,795,419 (GRCm39) M1T probably null Het
Coch T A 12: 51,642,155 (GRCm39) D42E probably damaging Het
Crip2 C T 12: 113,104,178 (GRCm39) probably benign Het
Crlf2 G C 5: 109,705,004 (GRCm39) P67R probably damaging Het
Cxcl16 G T 11: 70,346,234 (GRCm39) P233H probably damaging Het
Cyfip1 T C 7: 55,536,529 (GRCm39) I319T probably damaging Het
Ddhd2 T C 8: 26,231,348 (GRCm39) Q364R probably damaging Het
Ephx2 A G 14: 66,324,412 (GRCm39) probably null Het
Exoc6b C A 6: 84,832,504 (GRCm39) V397L probably damaging Het
Fam83b T A 9: 76,400,210 (GRCm39) K298* probably null Het
Fbxo8 T A 8: 57,044,564 (GRCm39) I289N probably damaging Het
Fkbp9 T A 6: 56,855,089 (GRCm39) M536K probably benign Het
Flot1 C T 17: 36,136,416 (GRCm39) R190W possibly damaging Het
Gbp2b T A 3: 142,312,739 (GRCm39) V374E probably benign Het
Gna15 T A 10: 81,348,390 (GRCm39) S114C probably damaging Het
Gstt4 T A 10: 75,653,155 (GRCm39) T136S probably benign Het
Hcn3 C T 3: 89,056,093 (GRCm39) V524M probably damaging Het
Kctd16 A T 18: 40,391,616 (GRCm39) D68V probably damaging Het
Kics2 T C 10: 121,586,852 (GRCm39) V253A possibly damaging Het
Krt90 G T 15: 101,468,860 (GRCm39) F227L possibly damaging Het
Lrrc37 T C 11: 103,510,664 (GRCm39) T435A unknown Het
Maip1 A G 1: 57,450,994 (GRCm39) Y212C probably damaging Het
Mamdc2 C T 19: 23,356,233 (GRCm39) D72N probably damaging Het
Marveld3 A T 8: 110,675,115 (GRCm39) Y234N probably damaging Het
Mas1 A G 17: 13,060,634 (GRCm39) I263T probably benign Het
Matk T A 10: 81,094,140 (GRCm39) probably null Het
Mrgpre T A 7: 143,335,303 (GRCm39) I67F possibly damaging Het
Mthfd1 T A 12: 76,340,948 (GRCm39) I449N probably damaging Het
Nacc1 C T 8: 85,402,830 (GRCm39) R321Q probably damaging Het
Neb T C 2: 52,148,693 (GRCm39) D2618G probably damaging Het
Neb T C 2: 52,181,280 (GRCm39) Y1109C probably damaging Het
Nell1 T G 7: 50,506,135 (GRCm39) W781G probably damaging Het
Or4g16 T A 2: 111,137,325 (GRCm39) Y258* probably null Het
Or4x6 A G 2: 89,949,666 (GRCm39) V92A probably benign Het
Or52d1 T C 7: 103,755,501 (GRCm39) L5P probably damaging Het
Or55b4 T C 7: 102,133,650 (GRCm39) I226V probably benign Het
Or5p72 C A 7: 108,021,784 (GRCm39) A2D probably benign Het
Or6k4 A T 1: 173,964,981 (GRCm39) I224F possibly damaging Het
Or8s8 T C 15: 98,354,959 (GRCm39) L256S possibly damaging Het
Or8u10 A C 2: 85,915,928 (GRCm39) S64R probably benign Het
Pcdh7 C A 5: 57,878,657 (GRCm39) D737E probably damaging Het
Pdss1 T G 2: 22,791,324 (GRCm39) M55R probably benign Het
Pex6 C T 17: 47,035,626 (GRCm39) R889W probably damaging Het
Pigl T A 11: 62,349,307 (GRCm39) C8S possibly damaging Het
Plekha7 A T 7: 115,744,472 (GRCm39) M585K probably damaging Het
Ppp1r1a C T 15: 103,441,514 (GRCm39) M66I possibly damaging Het
Ptcd3 A T 6: 71,858,155 (GRCm39) probably benign Het
Rhov A T 2: 119,101,495 (GRCm39) V37E probably damaging Het
Rnf213 A T 11: 119,331,894 (GRCm39) M2368L probably damaging Het
Skida1 T C 2: 18,050,968 (GRCm39) probably benign Het
Slc25a28 T C 19: 43,655,392 (GRCm39) D161G probably benign Het
Smc6 T C 12: 11,340,818 (GRCm39) V490A probably damaging Het
Sohlh2 T A 3: 55,097,794 (GRCm39) probably null Het
Stk31 A G 6: 49,394,429 (GRCm39) T264A probably benign Het
Syngap1 T A 17: 27,173,962 (GRCm39) S190R possibly damaging Het
Tacr1 T A 6: 82,529,882 (GRCm39) V200E probably damaging Het
Tbrg4 C T 11: 6,570,812 (GRCm39) R220H probably benign Het
Tcf20 A G 15: 82,736,504 (GRCm39) L1649P probably benign Het
Tcirg1 A T 19: 3,947,866 (GRCm39) L523Q possibly damaging Het
Tinag T A 9: 76,908,936 (GRCm39) K335M possibly damaging Het
Tkt T G 14: 30,293,097 (GRCm39) probably null Het
Tnpo1 C T 13: 99,000,320 (GRCm39) R349H probably damaging Het
Trim26 T A 17: 37,163,510 (GRCm39) S230R possibly damaging Het
Trim8 T A 19: 46,503,178 (GRCm39) probably null Het
Trp53bp1 T C 2: 121,078,745 (GRCm39) R326G probably null Het
Ugt2a2 A T 5: 87,608,498 (GRCm39) I613N probably damaging Het
Vmn1r32 T C 6: 66,530,690 (GRCm39) I29V probably benign Het
Wnt5b C T 6: 119,423,543 (GRCm39) W27* probably null 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
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
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'- AGCGCAGACTTCCTTTCAACCC -3'
(R):5'- GCAAAGAAAAGCCTTGTTCCCTCCC -3'

Sequencing Primer
(F):5'- CCCAGCTAGGTGGATCTCTTATG -3'
(R):5'- CCTCCCCCTGAAGTTAAGTG -3'
Posted On 2013-09-03