Mutagenetix > Incidental Mutation

Incidental Mutation 'R5475:Ank'

434044

Institutional Source

Beutler Lab

Gene Symbol

Ank

Ensembl Gene

ENSMUSG00000022265

Gene Name

progressive ankylosis

Synonyms

D15Ertd221e

MMRRC Submission

043036-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.468) question?

Stock #

R5475 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27466763-27594995 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 27557285 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 156 (K156N)

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: K156N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022875
Gene: ENSMUSG00000022265
AA Change: K156N

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.4878

Coding Region Coverage

1x: 98.3%
3x: 97.4%
10x: 95.5%
20x: 91.8%

Validation Efficiency

96% (72/75)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
AA467197	A	G	2: 122,482,646 (GRCm39)	K70R	probably damaging	Het
Agr3	A	G	12: 35,997,539 (GRCm39)	N83S	probably benign	Het
Alpk2	T	C	18: 65,440,083 (GRCm39)	T904A	probably benign	Het
Arsb	T	G	13: 93,998,773 (GRCm39)	D360E	probably benign	Het
Atg14	C	T	14: 47,805,793 (GRCm39)	R24Q	possibly damaging	Het
Cacna1e	A	T	1: 154,601,455 (GRCm39)	F71I	possibly damaging	Het
Cdc42bpg	T	C	19: 6,361,101 (GRCm39)	I242T	probably damaging	Het
Cngb1	A	T	8: 95,978,597 (GRCm39)	I588N	probably damaging	Het
Col6a6	T	C	9: 105,651,537 (GRCm39)	H1158R	probably null	Het
Cse1l	T	C	2: 166,783,174 (GRCm39)	S684P	probably damaging	Het
Cyp2c29	A	T	19: 39,318,731 (GRCm39)	M404L	possibly damaging	Het
D5Ertd579e	G	T	5: 36,772,601 (GRCm39)	S598Y	probably damaging	Het
Dph7	A	T	2: 24,858,969 (GRCm39)		probably null	Het
Dsg1c	A	T	18: 20,415,088 (GRCm39)	N662Y	probably damaging	Het
Efcab9	T	G	11: 32,472,862 (GRCm39)	D195A	probably damaging	Het
Ephb4	A	G	5: 137,352,701 (GRCm39)	M95V	probably benign	Het
Fam171a1	A	T	2: 3,226,334 (GRCm39)	Y489F	possibly damaging	Het
Fars2	T	C	13: 36,388,553 (GRCm39)	I14T	probably benign	Het
Fbxo34	T	C	14: 47,766,802 (GRCm39)	V54A	probably benign	Het
Fbxw17	T	C	13: 50,579,684 (GRCm39)	I167T	probably benign	Het
Fzd9	A	T	5: 135,279,123 (GRCm39)		probably null	Het
Gm26996	T	A	6: 130,556,918 (GRCm39)		noncoding transcript	Het
Gm4744	A	G	6: 40,927,388 (GRCm39)		probably benign	Het
Gm4744	T	A	6: 40,927,403 (GRCm39)		probably benign	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Has1	C	A	17: 18,068,583 (GRCm39)	R257L	possibly damaging	Het
Hjv	T	C	3: 96,434,599 (GRCm39)	S113P	probably benign	Het
Hsd17b8	C	T	17: 34,246,287 (GRCm39)		probably benign	Het
Kat2b	T	G	17: 53,970,609 (GRCm39)	V665G	probably damaging	Het
Klhdc4	T	A	8: 122,526,311 (GRCm39)	H276L	possibly damaging	Het
Klhl6	A	T	16: 19,766,877 (GRCm39)	C506S	probably damaging	Het
Ldb2	T	C	5: 44,699,174 (GRCm39)	Y88C	probably damaging	Het
Lrit1	A	G	14: 36,776,958 (GRCm39)	E26G	probably benign	Het
Mcoln2	A	G	3: 145,889,541 (GRCm39)	Y414C	probably damaging	Het
Mfsd5	A	G	15: 102,188,928 (GRCm39)	D100G	probably damaging	Het
Micall2	T	A	5: 139,702,224 (GRCm39)	S340C	probably damaging	Het
Npsr1	T	C	9: 24,211,715 (GRCm39)	I81T	probably damaging	Het
Or2bd2	G	T	7: 6,443,169 (GRCm39)	R90L	probably benign	Het
Or2t49	A	G	11: 58,392,431 (GRCm39)	V317A	probably benign	Het
Or6x1	T	A	9: 40,099,005 (GRCm39)	L198H	possibly damaging	Het
Or8b56	T	A	9: 38,739,762 (GRCm39)	F258L	possibly damaging	Het
Pax3	T	C	1: 78,080,055 (GRCm39)	T444A	probably benign	Het
Pea15a	A	G	1: 172,026,809 (GRCm39)		probably null	Het
Phc1	T	A	6: 122,311,051 (GRCm39)	Q95L	possibly damaging	Het
Plch2	T	C	4: 155,084,594 (GRCm39)	Y361C	probably damaging	Het
Pphln1-ps1	A	T	16: 13,494,977 (GRCm39)	R25S	possibly damaging	Het
Rad54l2	C	T	9: 106,583,057 (GRCm39)	G787D	probably damaging	Het
Rbm20	G	T	19: 53,823,136 (GRCm39)	E578*	probably null	Het
Sipa1l2	A	T	8: 126,218,334 (GRCm39)	D334E	probably damaging	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Thumpd1	A	G	7: 119,319,943 (GRCm39)	S8P	probably benign	Het
Tnxb	T	C	17: 34,908,567 (GRCm39)	Y1407H	probably damaging	Het
Trav2	T	A	14: 52,805,290 (GRCm39)	V37E	probably damaging	Het
Trav3-1	G	T	14: 52,818,494 (GRCm39)	W56L	probably damaging	Het
Usp31	A	T	7: 121,250,749 (GRCm39)	L808Q	probably damaging	Het
Vmn1r52	C	T	6: 90,155,894 (GRCm39)	A66V	probably benign	Het
Vmn2r105	T	A	17: 20,455,044 (GRCm39)	I31L	probably benign	Het
Wdr1	C	T	5: 38,686,931 (GRCm39)	G278S	probably damaging	Het
Zbtb2	G	T	10: 4,319,275 (GRCm39)	F250L	probably benign	Het

Other mutations in Ank

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- GCCATCATCCACTCTGATCTAG -3'
(R):5'- TCCATATGGGATGCGAGCTG -3'

Sequencing Primer
(F):5'- GCTAGCCGCCAGATGAAGTTAC -3'
(R):5'- ATATGGGATGCGAGCTGAGTGC -3'

Posted On

2016-10-06