Mutagenetix > Incidental Mutation

Incidental Mutation 'R8530:Ank'

659015

Institutional Source

Beutler Lab

Gene Symbol

Ank

Ensembl Gene

ENSMUSG00000022265

Gene Name

progressive ankylosis

Synonyms

D15Ertd221e

MMRRC Submission

068500-MU

Accession Numbers

Essential gene?

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

Stock #

R8530 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

27466763-27594995 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 27544490 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 84 (A84T)

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: A84T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000022875
Gene: ENSMUSG00000022265
AA Change: A84T

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	C	3: 137,774,586 (GRCm39)	E1258D	probably damaging	Het
4930407I10Rik	T	A	15: 81,949,587 (GRCm39)	H1161Q	probably damaging	Het
Adam20	A	G	8: 41,249,071 (GRCm39)	S394G	probably damaging	Het
Akr1c12	A	T	13: 4,320,160 (GRCm39)	F310Y	probably benign	Het
Bcas1	A	T	2: 170,229,868 (GRCm39)	I244K	probably damaging	Het
Cacna1a	T	C	8: 85,339,043 (GRCm39)		probably null	Het
Car14	T	C	3: 95,807,670 (GRCm39)	H79R	probably benign	Het
Cd163	T	C	6: 124,295,860 (GRCm39)	Y735H	probably damaging	Het
Cdh11	G	A	8: 103,391,387 (GRCm39)	P283L	probably benign	Het
Cfi	C	T	3: 129,644,382 (GRCm39)	T126I	possibly damaging	Het
Col6a4	T	A	9: 105,957,704 (GRCm39)	H40L	probably benign	Het
Dbh	A	G	2: 27,058,318 (GRCm39)	D162G	probably damaging	Het
Dnah14	A	G	1: 181,492,511 (GRCm39)	K1657R	probably damaging	Het
E2f7	T	A	10: 110,614,859 (GRCm39)	V521D	probably benign	Het
Eif3g	A	C	9: 20,809,026 (GRCm39)	S93A	possibly damaging	Het
Fa2h	T	C	8: 112,082,788 (GRCm39)	E143G	probably benign	Het
Foxc1	C	A	13: 31,991,771 (GRCm39)	P194Q	probably benign	Het
Fyco1	A	G	9: 123,669,605 (GRCm39)		probably null	Het
Gabrb3	T	C	7: 57,461,819 (GRCm39)	S256P	probably damaging	Het
Gcc1	C	A	6: 28,420,730 (GRCm39)	D196Y	probably damaging	Het
Herc1	T	A	9: 66,325,910 (GRCm39)	D1461E	probably benign	Het
Hmcn2	C	A	2: 31,281,088 (GRCm39)	L1867I	probably benign	Het
Hps6	A	T	19: 45,991,959 (GRCm39)		probably benign	Het
Macc1	A	T	12: 119,409,474 (GRCm39)	I81F	probably damaging	Het
Man2c1	G	T	9: 57,038,922 (GRCm39)	D111Y	probably damaging	Het
Mast3	A	T	8: 71,240,877 (GRCm39)	I240N	possibly damaging	Het
Matn1	A	T	4: 130,677,447 (GRCm39)	K219*	probably null	Het
Nup210	C	G	6: 91,053,627 (GRCm39)	A297P	possibly damaging	Het
Or5d43	A	T	2: 88,105,154 (GRCm39)	L80I	probably damaging	Het
Or6d12	T	A	6: 116,493,530 (GRCm39)	I264K	probably damaging	Het
Pcare	T	C	17: 72,059,101 (GRCm39)	Y192C	probably damaging	Het
Pcnt	G	A	10: 76,256,039 (GRCm39)	R734W	probably damaging	Het
Phactr3	A	G	2: 177,925,819 (GRCm39)	N360D	probably damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Potefam3a	T	C	8: 20,356,984 (GRCm38)	N242S	probably benign	Het
Qtrt2	C	A	16: 43,689,407 (GRCm39)	G197V	probably damaging	Het
Rabep1	A	T	11: 70,810,068 (GRCm39)	L500F	probably damaging	Het
Rhof	T	A	5: 123,257,581 (GRCm39)	D183V	probably damaging	Het
Shprh	T	C	10: 11,027,678 (GRCm39)	V95A	probably benign	Het
Spata31d1b	A	T	13: 59,864,964 (GRCm39)	N704I	unknown	Het
Tas1r2	A	T	4: 139,389,460 (GRCm39)	Y452F	probably benign	Het
Tc2n	A	T	12: 101,617,444 (GRCm39)	F325Y	possibly damaging	Het
Tiam2	G	T	17: 3,501,087 (GRCm39)	V909L	probably benign	Het
Tlx1	A	T	19: 45,139,524 (GRCm39)	Y57F	probably benign	Het
Uck1	C	A	2: 32,150,153 (GRCm39)		probably benign	Het
Vmn2r58	A	T	7: 41,513,576 (GRCm39)	W356R	probably damaging	Het
Wars1	G	A	12: 108,848,818 (GRCm39)	A43V	probably damaging	Het
Wrn	A	T	8: 33,770,852 (GRCm39)	I694N	possibly damaging	Het
Zfp120	A	G	2: 149,959,168 (GRCm39)	Y385H	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
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
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'- CAAGTCCCATGTTGGTGGTG -3'
(R):5'- GGCTTAATAATTGCTGAAGACGC -3'

Sequencing Primer
(F):5'- ACTCTGCGGAGATGTGGTTC -3'
(R):5'- TTGCTGAAGACGCCACTTAG -3'

Posted On

2021-01-18