Incidental Mutation 'R9002:Ank'
ID 685058
Institutional Source Beutler Lab
Gene Symbol Ank
Ensembl Gene ENSMUSG00000022265
Gene Name progressive ankylosis
Synonyms D15Ertd221e
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.468) question?
Stock # R9002 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 27466763-27594995 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 27544413 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 58 (L58*)
Ref Sequence ENSEMBL: ENSMUSP00000022875 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022875] [ENSMUST00000228179]
AlphaFold Q9JHZ2
Predicted Effect probably null
Transcript: ENSMUST00000022875
AA Change: L58*
SMART Domains Protein: ENSMUSP00000022875
Gene: ENSMUSG00000022265
AA Change: L58*

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 probably benign
Transcript: ENSMUST00000228179
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,241,926 (GRCm39) M1263K possibly damaging Het
Abca8b C T 11: 109,843,456 (GRCm39) D985N probably benign Het
Ak5 A T 3: 152,359,091 (GRCm39) M207K probably damaging Het
Akt1 T C 12: 112,626,048 (GRCm39) I75V probably benign Het
Ap1g1 A C 8: 110,581,738 (GRCm39) T666P probably benign Het
Ap3b2 A T 7: 81,117,192 (GRCm39) S615T probably benign Het
Ash1l G T 3: 88,888,715 (GRCm39) R198L probably benign Het
Axl A T 7: 25,478,103 (GRCm39) C199S probably damaging Het
C1d T C 11: 17,212,787 (GRCm39) L44S probably damaging Het
Chst13 G A 6: 90,286,506 (GRCm39) P152L probably damaging Het
Col4a4 A G 1: 82,449,032 (GRCm39) L1186P probably benign Het
Ctdsp2 T A 10: 126,832,061 (GRCm39) I223N probably damaging Het
Efcab3 A T 11: 104,920,822 (GRCm39) D4671V probably damaging Het
Eml1 T A 12: 108,504,438 (GRCm39) I799N probably damaging Het
Fbxw18 G A 9: 109,519,660 (GRCm39) T282I probably damaging Het
Fmo2 A T 1: 162,705,647 (GRCm39) C397* probably null Het
Gbp10 C A 5: 105,369,847 (GRCm39) V262L probably benign Het
Gm45871 A T 18: 90,609,968 (GRCm39) H402L probably damaging Het
Has1 T C 17: 18,063,912 (GRCm39) S576G unknown Het
Hat1 C T 2: 71,271,647 (GRCm39) R407W probably damaging Het
Hivep2 G T 10: 14,008,157 (GRCm39) R1585L probably benign Het
Ifi211 A G 1: 173,733,894 (GRCm39) V89A possibly damaging Het
Igkv4-59 T C 6: 69,415,475 (GRCm39) T27A possibly damaging Het
Irf9 T A 14: 55,845,140 (GRCm39) N333K possibly damaging Het
Jakmip2 C T 18: 43,715,323 (GRCm39) V68I probably benign Het
Kif1b T G 4: 149,275,712 (GRCm39) I1400L probably damaging Het
Kif2b C T 11: 91,467,053 (GRCm39) C410Y probably benign Het
Klk1b16 T C 7: 43,790,189 (GRCm39) L153P possibly damaging Het
Kndc1 C T 7: 139,507,708 (GRCm39) S1222F possibly damaging Het
Lama5 A G 2: 179,838,311 (GRCm39) C855R probably damaging Het
Mast3 A G 8: 71,233,904 (GRCm39) L947P probably damaging Het
Mblac2 C A 13: 81,860,072 (GRCm39) A142E possibly damaging Het
Mppe1 A G 18: 67,358,925 (GRCm39) S348P possibly damaging Het
Mroh8 A C 2: 157,058,939 (GRCm39) V909G probably damaging Het
Mthfd1 C T 12: 76,350,754 (GRCm39) T712M probably benign Het
Nek10 T C 14: 14,980,590 (GRCm38) L982P probably damaging Het
Nlrp4b C T 7: 10,448,886 (GRCm39) T363I probably damaging Het
Nol10 A G 12: 17,408,134 (GRCm39) E120G probably damaging Het
Olfml1 T C 7: 107,189,423 (GRCm39) S163P probably damaging Het
Or2n1c A T 17: 38,519,555 (GRCm39) N140Y probably benign Het
Or51a7 A T 7: 102,614,618 (GRCm39) I104F probably damaging Het
Or6ae1 T C 7: 139,742,198 (GRCm39) I222V probably damaging Het
Or8b43 T A 9: 38,360,171 (GRCm39) M1K probably null Het
Or8i2 T C 2: 86,852,241 (GRCm39) T216A probably benign Het
Pde6a T A 18: 61,419,060 (GRCm39) L812Q probably damaging Het
Pdxp T A 15: 78,802,459 (GRCm39) M231K probably damaging Het
Pi4ka A G 16: 17,117,317 (GRCm39) L1368P Het
Ppie T C 4: 123,024,344 (GRCm39) N171S possibly damaging Het
Rimbp2 T C 5: 128,865,356 (GRCm39) H657R probably benign Het
Sarnp T A 10: 128,657,842 (GRCm39) probably null Het
Serpinb9c T C 13: 33,334,329 (GRCm39) T266A probably damaging Het
Srgap3 T A 6: 112,757,854 (GRCm39) I218F possibly damaging Het
Susd1 C A 4: 59,324,882 (GRCm39) W717L probably benign Het
Tgfbi A G 13: 56,771,402 (GRCm39) Y88C probably damaging Het
Tmc6 A T 11: 117,661,308 (GRCm39) F624Y probably damaging Het
Tnni2 A G 7: 141,998,013 (GRCm39) E172G probably damaging Het
Traf3ip1 T C 1: 91,433,178 (GRCm39) S316P probably benign Het
Tshr C A 12: 91,504,548 (GRCm39) N495K possibly damaging Het
Ulk3 C A 9: 57,500,542 (GRCm39) A317E probably damaging Het
Usp24 T C 4: 106,275,412 (GRCm39) V2229A possibly damaging Het
Usp32 G A 11: 84,944,777 (GRCm39) R304C probably damaging Het
Usp40 C T 1: 87,935,063 (GRCm39) G28D probably benign Het
Vmn1r41 A G 6: 89,724,109 (GRCm39) K217E possibly damaging Het
Vmn2r73 T A 7: 85,507,284 (GRCm39) K676M probably benign Het
Vnn1 A G 10: 23,775,349 (GRCm39) T200A possibly damaging Het
Zc3hav1 A G 6: 38,302,176 (GRCm39) L698P possibly 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
R0470:Ank UTSW 15 27,571,721 (GRCm39) missense probably damaging 0.98
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
R9408:Ank UTSW 15 27,591,588 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGATTCACTCCGCACACTG -3'
(R):5'- TGAAGACGCCACTTAGCCTAC -3'

Sequencing Primer
(F):5'- ACTCCGCACACTGCCTGC -3'
(R):5'- TGAAACGACCAAACCGAAATGCTG -3'
Posted On 2021-10-11