Mutagenetix > Incidental Mutation

Incidental Mutation 'R4508:Ank'

331089

Institutional Source

Beutler Lab

Gene Symbol

Ank

Ensembl Gene

ENSMUSG00000022265

Gene Name

progressive ankylosis

Synonyms

D15Ertd221e

MMRRC Submission

041757-MU

Accession Numbers

Essential gene?

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

Stock #

R4508 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27466763-27594995 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 27565063 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 255 (R255W)

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: R255W

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

SMART Domains

Protein: ENSMUSP00000022875
Gene: ENSMUSG00000022265
AA Change: R255W

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

0.7362

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.3%

Validation Efficiency

100% (50/50)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12	A	G	2: 150,746,275 (GRCm39)		probably benign	Het
Amer3	A	G	1: 34,627,380 (GRCm39)	R540G	probably benign	Het
Ank3	A	C	10: 69,728,200 (GRCm39)	I629L	probably damaging	Het
Arhgap11a	T	A	2: 113,672,387 (GRCm39)	N194Y	probably damaging	Het
BB014433	T	C	8: 15,092,095 (GRCm39)	T253A	possibly damaging	Het
Ccdc40	C	A	11: 119,133,335 (GRCm39)	D534E	probably damaging	Het
Chrna2	C	A	14: 66,383,902 (GRCm39)	N106K	probably damaging	Het
Clec2f	C	A	6: 128,997,474 (GRCm39)		noncoding transcript	Het
Cnnm2	G	A	19: 46,865,709 (GRCm39)	D766N	probably benign	Het
Ctc1	A	G	11: 68,906,943 (GRCm39)		probably null	Het
Ddc	C	T	11: 11,769,393 (GRCm39)		probably null	Het
Doc2g	G	A	19: 4,054,036 (GRCm39)		probably benign	Het
Ep400	T	C	5: 110,851,481 (GRCm39)	T1334A	unknown	Het
Epdr1	T	C	13: 19,778,659 (GRCm39)	I44V	probably benign	Het
Fbp2	A	T	13: 62,989,679 (GRCm39)	I209N	probably damaging	Het
Garin1b	T	C	6: 29,323,764 (GRCm39)	V163A	probably benign	Het
Get1	T	A	16: 95,946,899 (GRCm39)		probably benign	Het
Gldc	G	T	19: 30,120,807 (GRCm39)	Q375K	probably damaging	Het
Hc	A	C	2: 34,903,077 (GRCm39)	V1058G	possibly damaging	Het
Hydin	T	A	8: 111,245,886 (GRCm39)	S2200T	possibly damaging	Het
Kcnc1	C	T	7: 46,077,712 (GRCm39)	P505S	probably benign	Het
Kifc3	T	C	8: 95,834,048 (GRCm39)		probably null	Het
Klhl10	A	G	11: 100,333,002 (GRCm39)	E49G	possibly damaging	Het
Lhx5	T	C	5: 120,573,499 (GRCm39)	S161P	probably damaging	Het
Lilra6	G	T	7: 3,915,028 (GRCm39)	Y455*	probably null	Het
Lzts1	C	T	8: 69,588,270 (GRCm39)	R562H	probably benign	Het
Muc6	G	A	7: 141,226,356 (GRCm39)		probably benign	Het
Ogfod2	C	T	5: 124,251,317 (GRCm39)	Q74*	probably null	Het
Or4f56	A	C	2: 111,703,947 (GRCm39)	D84E	probably damaging	Het
Or5h17	T	A	16: 58,820,138 (GRCm39)	V30E	probably benign	Het
Polr2a	T	C	11: 69,633,385 (GRCm39)		probably null	Het
Ptpre	T	C	7: 135,270,832 (GRCm39)	L329P	probably damaging	Het
Rnh1	T	C	7: 140,744,456 (GRCm39)	Q73R	possibly damaging	Het
Scly	G	A	1: 91,236,047 (GRCm39)	V100I	possibly damaging	Het
Sos2	A	T	12: 69,682,435 (GRCm39)	L261*	probably null	Het
Sp1	A	C	15: 102,317,747 (GRCm39)	Q422P	possibly damaging	Het
Sp3	A	T	2: 72,800,741 (GRCm39)	F468Y	probably damaging	Het
Tenm2	T	C	11: 35,899,172 (GRCm39)	Y2662C	possibly damaging	Het
Tmem38a	C	T	8: 73,326,005 (GRCm39)	P20S	possibly damaging	Het
Tmprss2	C	A	16: 97,371,627 (GRCm39)	G281C	probably damaging	Het
Tmprss6	A	T	15: 78,343,978 (GRCm39)	Y183N	probably damaging	Het
Ttn	A	T	2: 76,580,684 (GRCm39)	L23403Q	probably damaging	Het
Ubqlnl	C	T	7: 103,798,925 (GRCm39)	V191M	probably benign	Het
Vmn1r90	T	C	7: 14,296,084 (GRCm39)	N5D	probably benign	Het
Vps13b	A	G	15: 35,709,819 (GRCm39)	D1922G	possibly damaging	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
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'- GGCATGTCTACAGAGGCTTTTC -3'
(R):5'- AGTCACCTAATCATGGCTTCC -3'

Sequencing Primer
(F):5'- AATGGAGTTGCTATTGATTGGCATAC -3'
(R):5'- AATCATGGCTTCCTTTGTCATTGTG -3'

Posted On

2015-07-21