Incidental Mutation 'R0470:Ank'
ID 41819
Institutional Source Beutler Lab
Gene Symbol Ank
Ensembl Gene ENSMUSG00000022265
Gene Name progressive ankylosis
Synonyms D15Ertd221e
MMRRC Submission 038670-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.468) question?
Stock # R0470 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 27466763-27594995 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 27571721 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 331 (C331Y)
Ref Sequence ENSEMBL: ENSMUSP00000022875 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022875] [ENSMUST00000228179]
AlphaFold Q9JHZ2
Predicted Effect probably damaging
Transcript: ENSMUST00000022875
AA Change: C331Y

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022875
Gene: ENSMUSG00000022265
AA Change: C331Y

DomainStartEndE-ValueType
Pfam:ANKH 1 345 1e-223 PFAM
transmembrane domain 361 383 N/A INTRINSIC
transmembrane domain 404 426 N/A INTRINSIC
transmembrane domain 430 452 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134004
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184426
Predicted Effect probably benign
Transcript: ENSMUST00000228179
Meta Mutation Damage Score 0.7328 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 93.0%
Validation Efficiency 98% (55/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multipass transmembrane protein that is expressed in joints and other tissues and controls pyrophosphate levels in cultured cells. Progressive ankylosis-mediated control of pyrophosphate levels has been suggested as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher animals. Mutations in this gene have been associated with autosomal dominant craniometaphyseal dysplasia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant animals exhibit joint stiffness due to increased calcium deposits in calcified cartilages and die prematurely. Hyperostosis of craniofacial bones and the mandible has been reported in other mutants as well. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T G 19: 8,986,331 (GRCm39) D2538E probably benign Het
Akr1c13 T A 13: 4,248,500 (GRCm39) L235H probably damaging Het
Ankrd12 T C 17: 66,293,129 (GRCm39) E768G probably benign Het
Atm A T 9: 53,372,266 (GRCm39) V2172E probably damaging Het
Atp10b T A 11: 43,093,866 (GRCm39) L470Q possibly damaging Het
Bcl2 G A 1: 106,640,292 (GRCm39) R107C probably damaging Het
Ccn4 A G 15: 66,789,227 (GRCm39) I238V probably benign Het
Cdadc1 A T 14: 59,811,290 (GRCm39) probably benign Het
Cfhr2 A T 1: 139,749,517 (GRCm39) V155E probably damaging Het
Chp1 C T 2: 119,391,244 (GRCm39) R34C probably damaging Het
Cilp2 A T 8: 70,338,055 (GRCm39) V192E possibly damaging Het
Cyth1 T C 11: 118,023,074 (GRCm39) probably benign Het
Dnah8 T A 17: 30,927,514 (GRCm39) probably benign Het
Gja3 T C 14: 57,273,884 (GRCm39) T163A probably damaging Het
Gsdmcl1 C T 15: 63,722,280 (GRCm39) noncoding transcript Het
Herc6 C T 6: 57,596,437 (GRCm39) T459M probably damaging Het
Hexb A G 13: 97,314,507 (GRCm39) L412P probably damaging Het
Il17ra T G 6: 120,458,767 (GRCm39) D639E probably benign Het
Kcnh5 G A 12: 75,161,188 (GRCm39) T240I probably benign Het
Lef1 T C 3: 130,906,475 (GRCm39) probably benign Het
Lilrb4a T A 10: 51,370,923 (GRCm39) N282K possibly damaging Het
Mbnl2 A T 14: 120,642,062 (GRCm39) H342L probably damaging Het
Minar2 C T 18: 59,208,711 (GRCm39) R120C probably damaging Het
Nipal3 A G 4: 135,174,683 (GRCm39) V356A probably damaging Het
Or2a54 C G 6: 43,093,558 (GRCm39) A294G probably null Het
Or51i1 A T 7: 103,670,877 (GRCm39) I216N probably damaging Het
Plekha6 G A 1: 133,200,045 (GRCm39) R208Q probably benign Het
Prkar1b A G 5: 139,036,504 (GRCm39) I82T probably damaging Het
Prrc1 C T 18: 57,496,469 (GRCm39) T140M probably damaging Het
Psg22 A C 7: 18,453,589 (GRCm39) S95R probably damaging Het
Ptk6 T C 2: 180,837,732 (GRCm39) T396A probably benign Het
Ptov1 A G 7: 44,514,235 (GRCm39) S9P probably damaging Het
Scin A C 12: 40,123,291 (GRCm39) probably benign Het
Sec13 T C 6: 113,717,593 (GRCm39) probably benign Het
Setd1a G A 7: 127,384,229 (GRCm39) probably benign Het
Sf3a2 G A 10: 80,640,388 (GRCm39) probably benign Het
Shmt1 T C 11: 60,683,789 (GRCm39) Y341C possibly damaging Het
Slc27a4 T A 2: 29,694,197 (GRCm39) L7Q probably benign Het
Slc41a2 T C 10: 83,152,086 (GRCm39) M130V possibly damaging Het
Sorcs3 T C 19: 48,785,956 (GRCm39) probably null Het
Tex24 C T 8: 27,834,936 (GRCm39) R155* probably null Het
Tgfb1 T A 7: 25,387,355 (GRCm39) probably benign Het
Tmc5 A G 7: 118,239,154 (GRCm39) D349G possibly damaging Het
Trappc13 C T 13: 104,297,512 (GRCm39) V131I possibly damaging Het
Trim66 A G 7: 109,056,749 (GRCm39) probably benign Het
Tspoap1 T C 11: 87,666,988 (GRCm39) S1027P probably damaging Het
Usp34 C T 11: 23,386,001 (GRCm39) H2143Y possibly damaging Het
Vmn1r179 A C 7: 23,627,818 (GRCm39) Y3S probably benign Het
Vmn1r231 G A 17: 21,110,265 (GRCm39) Q217* probably null Het
Vmn1r62 T A 7: 5,679,066 (GRCm39) L249* probably null Het
Vmn1r71 G C 7: 10,482,019 (GRCm39) S223C possibly damaging Het
Vmn2r109 T C 17: 20,773,148 (GRCm39) Q491R probably benign Het
Vwf G A 6: 125,605,391 (GRCm39) V925M possibly damaging Het
Zbtb6 A C 2: 37,319,505 (GRCm39) L141W probably damaging Het
Zranb1 G T 7: 132,584,500 (GRCm39) L615F probably damaging Het
Other mutations in Ank
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00417:Ank APN 15 27,544,437 (GRCm39) missense possibly damaging 0.53
IGL02975:Ank APN 15 27,467,087 (GRCm39) utr 5 prime probably benign
R0309:Ank UTSW 15 27,567,658 (GRCm39) missense possibly damaging 0.65
R1688:Ank UTSW 15 27,557,320 (GRCm39) missense probably damaging 1.00
R1691:Ank UTSW 15 27,591,030 (GRCm39) missense probably damaging 1.00
R2073:Ank UTSW 15 27,565,108 (GRCm39) missense probably benign 0.20
R2248:Ank UTSW 15 27,562,797 (GRCm39) splice site probably null
R3113:Ank UTSW 15 27,571,700 (GRCm39) missense probably damaging 1.00
R4027:Ank UTSW 15 27,544,343 (GRCm39) missense probably damaging 1.00
R4028:Ank UTSW 15 27,544,343 (GRCm39) missense probably damaging 1.00
R4029:Ank UTSW 15 27,544,343 (GRCm39) missense probably damaging 1.00
R4030:Ank UTSW 15 27,544,343 (GRCm39) missense probably damaging 1.00
R4124:Ank UTSW 15 27,571,709 (GRCm39) missense probably damaging 1.00
R4126:Ank UTSW 15 27,590,459 (GRCm39) missense probably benign
R4508:Ank UTSW 15 27,565,063 (GRCm39) missense probably damaging 1.00
R4517:Ank UTSW 15 27,562,835 (GRCm39) missense possibly damaging 0.51
R4631:Ank UTSW 15 27,467,176 (GRCm39) missense probably benign
R4653:Ank UTSW 15 27,590,447 (GRCm39) missense probably null 0.98
R5001:Ank UTSW 15 27,562,819 (GRCm39) missense probably damaging 0.99
R5029:Ank UTSW 15 27,590,439 (GRCm39) missense probably benign 0.00
R5475:Ank UTSW 15 27,557,285 (GRCm39) missense probably damaging 1.00
R7218:Ank UTSW 15 27,544,407 (GRCm39) missense probably damaging 1.00
R7234:Ank UTSW 15 27,571,742 (GRCm39) critical splice donor site probably null
R8530:Ank UTSW 15 27,544,490 (GRCm39) missense probably benign
R8859:Ank UTSW 15 27,562,834 (GRCm39) missense possibly damaging 0.93
R8935:Ank UTSW 15 27,591,112 (GRCm39) missense probably damaging 0.99
R9002:Ank UTSW 15 27,544,413 (GRCm39) nonsense probably null
R9408:Ank UTSW 15 27,591,588 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TCTTCCGAGCCGTCACTTGAAATC -3'
(R):5'- AGCTGTCCCCGTTGATCATGTCTG -3'

Sequencing Primer
(F):5'- CGTCACTTGAAATCAGTACTCAAGG -3'
(R):5'- GCCTGATAAGCAATGTAAATACTTCC -3'
Posted On 2013-05-23