Mutagenetix > Incidental Mutation

Incidental Mutation 'R5029:Ank'

391580

Institutional Source

Beutler Lab

Gene Symbol

Ank

Ensembl Gene

ENSMUSG00000022265

Gene Name

progressive ankylosis

Synonyms

D15Ertd221e

MMRRC Submission

042620-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.439) question?

Stock #

R5029 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27466677-27594909 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 27590353 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 341 (V341A)

Ref Sequence

ENSEMBL: ENSMUSP00000022875 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022875] [ENSMUST00000228179]

AlphaFold

Q9JHZ2

Predicted Effect

probably benign
Transcript: ENSMUST00000022875
AA Change: V341A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000022875
Gene: ENSMUSG00000022265
AA Change: V341A

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

noncoding transcript
Transcript: ENSMUST00000134004

Predicted Effect

probably benign
Transcript: ENSMUST00000228179

Meta Mutation Damage Score

0.0632

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.1%

Validation Efficiency

97% (61/63)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actbl2	T	A	13: 111,255,593	M154K	probably benign	Het
Bnip3	T	A	7: 138,898,119		probably benign	Het
C1galt1	A	G	6: 7,863,931	K4E	possibly damaging	Het
Cbs	T	A	17: 31,615,482	Q511L	possibly damaging	Het
Ccdc117	T	C	11: 5,534,897	H109R	possibly damaging	Het
Cdh4	T	A	2: 179,881,949	V440D	possibly damaging	Het
Cnot4	T	C	6: 35,078,027	N109S	probably damaging	Het
Dact2	A	T	17: 14,195,852	S695R	probably benign	Het
Defa21	A	T	8: 21,026,365	E75V	probably damaging	Het
Dimt1	A	G	13: 106,957,122	D274G	probably null	Het
Dstyk	G	T	1: 132,449,324	V223L	probably benign	Het
Dync1h1	T	A	12: 110,618,010	S616T	possibly damaging	Het
Fer1l6	A	T	15: 58,643,920	I1619F	probably benign	Het
Gm4744	T	A	6: 40,949,407	Y83F	probably null	Het
Gm4787	G	C	12: 81,377,830	T518S	probably benign	Het
Hpx	T	G	7: 105,591,764	Y434S	probably damaging	Het
Ints4	A	G	7: 97,509,774	D451G	probably benign	Het
Itgb4	A	T	11: 115,988,591		probably benign	Het
Jph1	T	A	1: 17,091,391	N349I	possibly damaging	Het
Klrg1	A	G	6: 122,282,735	L26P	probably benign	Het
M1ap	A	C	6: 83,003,832	D233A	probably damaging	Het
Mfng	C	T	15: 78,764,388	R163H	probably benign	Het
Mycbp2	A	G	14: 103,156,510	S2762P	probably benign	Het
Myh11	T	A	16: 14,205,625	Q1556L	probably damaging	Het
N4bp2	A	G	5: 65,814,780	D1428G	probably damaging	Het
Ndc80	A	C	17: 71,508,765	C342G	probably benign	Het
Nxn	A	C	11: 76,274,530	Y199*	probably null	Het
Olfr1057	A	G	2: 86,374,890	I174T	probably damaging	Het
Olfr371	C	T	8: 85,231,206	A237V	probably benign	Het
Olfr776	T	A	10: 129,261,838	N292K	probably benign	Het
Pacs1	A	G	19: 5,142,271	F691L	probably benign	Het
Pcdhga12	T	C	18: 37,766,811	V232A	probably benign	Het
Pik3cb	A	T	9: 99,054,060	M773K	probably damaging	Het
Plxnb1	T	C	9: 109,114,655	Y1937H	probably damaging	Het
Ppfia2	C	A	10: 106,857,443	T603N	probably benign	Het
Psg22	A	G	7: 18,719,737	Y119C	probably damaging	Het
Saraf	G	T	8: 34,161,258	R86L	probably damaging	Het
Sh3bgrl2	T	C	9: 83,548,489	S11P	possibly damaging	Het
Slc39a4	C	T	15: 76,614,083	D385N	probably damaging	Het
St13	G	C	15: 81,399,585	R4G	probably benign	Het
Stpg3	T	C	2: 25,214,564	N13S	probably damaging	Het
Taf1a	T	A	1: 183,395,935	D50E	possibly damaging	Het
Tlr1	T	A	5: 64,925,681	N518Y	probably damaging	Het
Tnik	G	A	3: 28,665,844		probably null	Het
Tomm70a	T	A	16: 57,122,151	L97Q	probably benign	Het
Vmn2r97	T	A	17: 18,947,911	V809E	probably damaging	Het
Vps13d	T	C	4: 145,156,282	I914V	probably benign	Het
Zfyve26	A	T	12: 79,286,323	H291Q	probably damaging	Het
Zmynd15	G	T	11: 70,462,561	C334F	probably damaging	Het

Other mutations in Ank

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:Ank	APN	15	27544351	missense	possibly damaging	0.53
IGL02975:Ank	APN	15	27467001	utr 5 prime	probably benign
R0309:Ank	UTSW	15	27567572	missense	possibly damaging	0.65
R0470:Ank	UTSW	15	27571635	missense	probably damaging	0.98
R1688:Ank	UTSW	15	27557234	missense	probably damaging	1.00
R1691:Ank	UTSW	15	27590944	missense	probably damaging	1.00
R2073:Ank	UTSW	15	27565022	missense	probably benign	0.20
R2248:Ank	UTSW	15	27562711	splice site	probably null
R3113:Ank	UTSW	15	27571614	missense	probably damaging	1.00
R4027:Ank	UTSW	15	27544257	missense	probably damaging	1.00
R4028:Ank	UTSW	15	27544257	missense	probably damaging	1.00
R4029:Ank	UTSW	15	27544257	missense	probably damaging	1.00
R4030:Ank	UTSW	15	27544257	missense	probably damaging	1.00
R4124:Ank	UTSW	15	27571623	missense	probably damaging	1.00
R4126:Ank	UTSW	15	27590373	missense	probably benign
R4508:Ank	UTSW	15	27564977	missense	probably damaging	1.00
R4517:Ank	UTSW	15	27562749	missense	possibly damaging	0.51
R4631:Ank	UTSW	15	27467090	missense	probably benign
R4653:Ank	UTSW	15	27590361	missense	probably null	0.98
R5001:Ank	UTSW	15	27562733	missense	probably damaging	0.99
R5475:Ank	UTSW	15	27557199	missense	probably damaging	1.00
R7218:Ank	UTSW	15	27544321	missense	probably damaging	1.00
R7234:Ank	UTSW	15	27571656	critical splice donor site	probably null
R8530:Ank	UTSW	15	27544404	missense	probably benign
R8859:Ank	UTSW	15	27562748	missense	possibly damaging	0.93
R8935:Ank	UTSW	15	27591026	missense	probably damaging	0.99
R9002:Ank	UTSW	15	27544327	nonsense	probably null
R9408:Ank	UTSW	15	27591502	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGCACACGGATAGATGCCAC -3'
(R):5'- CCTCACTCTTAGGCATTGGTG -3'

Sequencing Primer
(F):5'- GGATAGATGCCACCCACAGTC -3'
(R):5'- GGTGCCACTGCTCATTCTGTATG -3'

Posted On

2016-06-06