Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02975:Ank'

406356

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ank

Ensembl Gene

ENSMUSG00000022265

Gene Name

progressive ankylosis

Synonyms

D15Ertd221e

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.432) question?

Stock #

IGL02975

Quality Score

Status

Chromosome

Chromosomal Location

27466763-27594995 bp(+) (GRCm39)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

A to G at 27467087 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000022875 (fasta)

Gene Model

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

AlphaFold

Q9JHZ2

Predicted Effect

probably benign
Transcript: ENSMUST00000022875

SMART Domains

Protein: ENSMUSP00000022875
Gene: ENSMUSG00000022265

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: ENSMUST00000227384

Coding Region Coverage

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	T	C	5: 99,381,784 (GRCm39)	D326G	possibly damaging	Het
Abtb3	A	G	10: 85,467,207 (GRCm39)	I721V	probably benign	Het
Ago4	C	T	4: 126,406,312 (GRCm39)		probably null	Het
Ankmy2	C	A	12: 36,243,773 (GRCm39)	S329R	possibly damaging	Het
Aox1	A	G	1: 58,107,550 (GRCm39)	E608G	probably damaging	Het
Car1	G	A	3: 14,842,882 (GRCm39)	L48F	probably benign	Het
Cct8	A	G	16: 87,283,118 (GRCm39)		probably benign	Het
Clasp1	A	T	1: 118,390,277 (GRCm39)	T154S	probably damaging	Het
Clca4a	A	C	3: 144,669,530 (GRCm39)	I340M	possibly damaging	Het
Cnksr3	C	T	10: 7,088,354 (GRCm39)		probably null	Het
Cntrob	T	C	11: 69,210,199 (GRCm39)	T265A	possibly damaging	Het
Ddx5	T	C	11: 106,672,711 (GRCm39)	I605V	probably benign	Het
Eif3i	A	G	4: 129,489,105 (GRCm39)	Y70H	probably damaging	Het
Epb41l5	T	C	1: 119,506,811 (GRCm39)		probably benign	Het
Fah	A	T	7: 84,250,287 (GRCm39)	S90T	probably benign	Het
Fat2	T	A	11: 55,161,020 (GRCm39)	M3237L	probably benign	Het
Fbxw8	A	G	5: 118,215,760 (GRCm39)	Y417H	probably benign	Het
Fmnl2	C	A	2: 52,991,494 (GRCm39)	F336L	probably benign	Het
Gli3	A	G	13: 15,899,153 (GRCm39)	R847G	probably damaging	Het
Gm17509	T	C	13: 117,357,308 (GRCm39)		probably benign	Het
Gm4846	T	A	1: 166,311,449 (GRCm39)	Y470F	possibly damaging	Het
Gm7461	T	C	8: 4,727,847 (GRCm39)		noncoding transcript	Het
Gpatch4	A	T	3: 87,961,743 (GRCm39)	N134I	possibly damaging	Het
Grina	A	G	15: 76,133,185 (GRCm39)	Y251C	probably damaging	Het
Gsn	A	G	2: 35,194,666 (GRCm39)	D654G	probably benign	Het
Hyal5	A	G	6: 24,891,451 (GRCm39)	T422A	probably benign	Het
Iars1	T	A	13: 49,858,325 (GRCm39)	I377N	probably damaging	Het
Ints3	A	T	3: 90,309,144 (GRCm39)		probably benign	Het
Kdm4b	G	A	17: 56,682,996 (GRCm39)		probably null	Het
Kyat1	A	G	2: 30,076,687 (GRCm39)	S276P	probably damaging	Het
Lrrc1	A	G	9: 77,359,929 (GRCm39)	C288R	probably damaging	Het
Mst1r	T	A	9: 107,790,379 (GRCm39)	M664K	probably benign	Het
Neb	A	T	2: 52,188,879 (GRCm39)	I817N	probably damaging	Het
Nudt6	C	A	3: 37,473,667 (GRCm39)	G18V	probably damaging	Het
Or10a49	G	A	7: 108,468,062 (GRCm39)	Q100*	probably null	Het
Or4k52	T	A	2: 111,611,266 (GRCm39)	Y200*	probably null	Het
Or7a41	T	C	10: 78,870,867 (GRCm39)	V79A	possibly damaging	Het
Pde1c	A	G	6: 56,135,921 (GRCm39)	I341T	probably damaging	Het
Pgm5	T	C	19: 24,812,212 (GRCm39)	I107V	probably benign	Het
Pot1b	G	A	17: 55,969,454 (GRCm39)		probably benign	Het
Prkca	C	T	11: 108,231,503 (GRCm39)	W58*	probably null	Het
Slc12a9	T	C	5: 137,320,705 (GRCm39)	K555R	probably damaging	Het
Smoc2	A	T	17: 14,556,872 (GRCm39)	Q107L	probably damaging	Het
Sytl1	T	A	4: 132,988,343 (GRCm39)	R4S	probably benign	Het
Tbc1d4	A	G	14: 101,695,549 (GRCm39)	L963P	probably damaging	Het
Tfdp2	G	A	9: 96,199,989 (GRCm39)		probably benign	Het
Tmem63a	A	T	1: 180,788,640 (GRCm39)	M326L	probably benign	Het
Vmn2r66	A	G	7: 84,656,182 (GRCm39)	L278P	probably damaging	Het
Wtap	A	G	17: 13,202,398 (GRCm39)	V11A	possibly damaging	Het
Zcchc9	A	T	13: 91,954,172 (GRCm39)	S28T	possibly damaging	Het
Zfp12	C	T	5: 143,229,814 (GRCm39)		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
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
R9002:Ank	UTSW	15	27,544,413 (GRCm39)	nonsense	probably null
R9408:Ank	UTSW	15	27,591,588 (GRCm39)	missense	probably damaging	0.99

Posted On

2016-08-02