Mutagenetix > Incidental Mutation

Incidental Mutation 'R4027:Ank'

313059

Institutional Source

Beutler Lab

Gene Symbol

Ank

Ensembl Gene

ENSMUSG00000022265

Gene Name

progressive ankylosis

Synonyms

D15Ertd221e

MMRRC Submission

040850-MU

Accession Numbers

Essential gene?

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

Stock #

R4027 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27466763-27594995 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27544343 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 35 (N35D)

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: N35D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022875
Gene: ENSMUSG00000022265
AA Change: N35D

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

0.9186

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

97% (60/62)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402F06Rik	A	G	2: 35,270,408 (GRCm39)	F98L	probably damaging	Het
Adam26b	T	C	8: 43,973,409 (GRCm39)	N531S	probably benign	Het
Ahdc1	T	C	4: 132,791,476 (GRCm39)	S906P	possibly damaging	Het
Ano10	A	G	9: 122,081,994 (GRCm39)		probably benign	Het
Atp4a	T	C	7: 30,424,377 (GRCm39)		probably null	Het
C030005K15Rik	T	C	10: 97,561,404 (GRCm39)	Y109C	unknown	Het
Carmil1	T	A	13: 24,251,206 (GRCm39)		probably benign	Het
Ccl2	A	G	11: 81,927,885 (GRCm39)	R110G	probably benign	Het
Cntnap2	C	A	6: 46,833,062 (GRCm39)	F758L	probably benign	Het
Cog6	A	C	3: 52,909,950 (GRCm39)	D267E	possibly damaging	Het
Cyp4f37	G	T	17: 32,850,646 (GRCm39)	E366D	probably benign	Het
Dcun1d4	A	G	5: 73,691,980 (GRCm39)	D89G	probably damaging	Het
Dpep1	T	C	8: 123,920,892 (GRCm39)	V24A	probably benign	Het
Eefsec	T	C	6: 88,353,232 (GRCm39)	I48V	probably benign	Het
Elmo2	G	A	2: 165,136,169 (GRCm39)	Q195*	probably null	Het
Ephb3	A	G	16: 21,040,447 (GRCm39)	D561G	probably damaging	Het
Erich2	C	A	2: 70,343,134 (GRCm39)		probably benign	Het
Gatm	A	G	2: 122,427,927 (GRCm39)	V362A	probably damaging	Het
Gdf10	A	G	14: 33,654,572 (GRCm39)	M360V	probably damaging	Het
Gpr141	T	C	13: 19,935,995 (GRCm39)	N260S	probably benign	Het
Hectd1	T	A	12: 51,849,219 (GRCm39)		probably null	Het
Insrr	A	G	3: 87,716,906 (GRCm39)	E682G	probably benign	Het
Itgax	A	G	7: 127,740,438 (GRCm39)	I742V	possibly damaging	Het
Kcnh1	T	C	1: 191,959,007 (GRCm39)	V187A	probably benign	Het
Kdm6b	G	T	11: 69,297,094 (GRCm39)	S419R	possibly damaging	Het
Kmt2a	A	T	9: 44,747,990 (GRCm39)		probably benign	Het
Krt10	A	G	11: 99,277,019 (GRCm39)		probably benign	Het
Lct	G	A	1: 128,212,918 (GRCm39)	R1912C	probably benign	Het
Lefty1	T	C	1: 180,765,346 (GRCm39)	S305P	probably benign	Het
Mast3	A	G	8: 71,240,552 (GRCm39)	L279P	probably damaging	Het
Mfsd4b3-ps	T	C	10: 39,823,343 (GRCm39)	T306A	probably benign	Het
Mgam	G	A	6: 40,731,836 (GRCm39)	R1351Q	probably damaging	Het
Mknk1	T	A	4: 115,721,758 (GRCm39)	F101I	probably damaging	Het
Mlc1	T	C	15: 88,850,697 (GRCm39)	I154V	probably benign	Het
Myo5b	T	C	18: 74,892,311 (GRCm39)	I1685T	possibly damaging	Het
Nacc2	T	A	2: 25,950,348 (GRCm39)	M463L	probably benign	Het
Nek11	A	C	9: 105,121,589 (GRCm39)	Y443*	probably null	Het
Nme4	T	C	17: 26,313,196 (GRCm39)		probably null	Het
Nova1	A	G	12: 46,863,801 (GRCm39)		probably benign	Het
Or52h9	A	T	7: 104,202,530 (GRCm39)	I135F	possibly damaging	Het
Parp10	A	G	15: 76,125,354 (GRCm39)		probably null	Het
Pkd1l3	T	A	8: 110,350,603 (GRCm39)	S483T	possibly damaging	Het
Plce1	T	C	19: 38,512,709 (GRCm39)	S3P	probably damaging	Het
Pnldc1	T	C	17: 13,109,666 (GRCm39)	D400G	probably benign	Het
Polr2b	G	A	5: 77,496,252 (GRCm39)	R1141H	possibly damaging	Het
Prmt6	A	G	3: 110,157,257 (GRCm39)	I344T	probably damaging	Het
Psmd2	G	A	16: 20,481,955 (GRCm39)	G896D	probably damaging	Het
Ranbp17	C	T	11: 33,450,718 (GRCm39)	R73Q	possibly damaging	Het
Rcn1	G	T	2: 105,229,395 (GRCm39)	Y52*	probably null	Het
Reck	T	C	4: 43,922,931 (GRCm39)	I402T	probably damaging	Het
Tecpr1	C	A	5: 144,143,077 (GRCm39)	A735S	probably benign	Het
Tshz1	T	C	18: 84,032,954 (GRCm39)	K485E	possibly damaging	Het
Ube4a	G	A	9: 44,861,198 (GRCm39)		probably benign	Het
Vldlr	A	G	19: 27,215,713 (GRCm39)	T237A	probably benign	Het
Vmn1r74	C	A	7: 11,580,898 (GRCm39)	T66K	probably damaging	Het
Wdr49	C	A	3: 75,230,972 (GRCm39)	L563F	probably benign	Het
Zmym1	C	T	4: 126,943,672 (GRCm39)	V239I	probably benign	Het
Zmym5	T	A	14: 57,035,268 (GRCm39)	T267S	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
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'- AGCTCAAACTGAAGCTAATGTGG -3'
(R):5'- ACCTATCAGGGTGTGGAAGAC -3'

Sequencing Primer
(F):5'- CTGAAGCTAATGTGGACAAAACC -3'
(R):5'- TGTGGAAGACGGCAGCG -3'

Posted On

2015-04-30