Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02538:Ankrd1'

297604

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ankrd1

Ensembl Gene

ENSMUSG00000024803

Gene Name

ankyrin repeat domain 1

Synonyms

CARP, Alrp, MARP1, Crap

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02538

Quality Score

Status

Chromosome

Chromosomal Location

36089365-36097244 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36092456 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 257 (H257R)

Ref Sequence

ENSEMBL: ENSMUSP00000025718 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025718]

AlphaFold

Q9CR42

Predicted Effect

probably damaging
Transcript: ENSMUST00000025718
AA Change: H257R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000025718
Gene: ENSMUSG00000024803
AA Change: H257R

Domain	Start	End	E-Value	Type
coiled coil region	53	88	N/A	INTRINSIC
low complexity region	94	113	N/A	INTRINSIC
Blast:ANK	119	148	1e-10	BLAST
ANK	152	181	4.56e-4	SMART
ANK	185	214	3.28e-5	SMART
ANK	218	247	4.89e-4	SMART
ANK	251	280	6.92e-4	SMART
Blast:ANK	285	313	5e-8	BLAST

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is localized to the nucleus of endothelial cells and is induced by IL-1 and TNF-alpha stimulation. Studies in rat cardiomyocytes suggest that this gene functions as a transcription factor. Interactions between this protein and the sarcomeric proteins myopalladin and titin suggest that it may also be involved in the myofibrillar stretch-sensor system. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele are viable, fertile, and show no apparent cardiac phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	A	2: 69,136,949 (GRCm39)	I171L	possibly damaging	Het
Amdhd1	C	T	10: 93,363,108 (GRCm39)	V327I	probably damaging	Het
Ano5	G	A	7: 51,233,523 (GRCm39)	R595H	probably damaging	Het
Atg2a	A	G	19: 6,307,658 (GRCm39)	T1531A	probably benign	Het
Bsn	A	G	9: 107,982,435 (GRCm39)	S1001P	unknown	Het
Btn1a1	T	C	13: 23,643,385 (GRCm39)	T355A	possibly damaging	Het
Cd22	G	T	7: 30,576,985 (GRCm39)	N107K	probably benign	Het
Ceacam10	A	G	7: 24,477,908 (GRCm39)	H141R	probably damaging	Het
Chil3	T	C	3: 106,071,445 (GRCm39)	D73G	probably damaging	Het
Cit	C	T	5: 116,125,048 (GRCm39)	Q1536*	probably null	Het
Dmgdh	T	A	13: 93,845,261 (GRCm39)	I418K	possibly damaging	Het
Efcab6	T	A	15: 83,938,722 (GRCm39)		probably benign	Het
Eif4g2	T	C	7: 110,678,523 (GRCm39)	I110V	probably benign	Het
Fam217a	T	C	13: 35,095,096 (GRCm39)	Y221C	probably damaging	Het
Fezf1	T	A	6: 23,246,557 (GRCm39)	K342N	probably damaging	Het
Git2	A	T	5: 114,869,047 (GRCm39)		probably benign	Het
Gm8126	A	T	14: 43,117,047 (GRCm39)	R63W	probably benign	Het
Ica1l	T	C	1: 60,049,345 (GRCm39)	K203E	probably benign	Het
Iigp1c	A	T	18: 60,378,944 (GRCm39)	K160*	probably null	Het
Inpp5d	A	G	1: 87,623,088 (GRCm39)	M393V	probably null	Het
Kbtbd11	A	G	8: 15,078,841 (GRCm39)	D480G	probably damaging	Het
Klhl1	T	C	14: 96,477,649 (GRCm39)	N473S	probably benign	Het
Krt1c	A	G	15: 101,719,589 (GRCm39)	S694P	unknown	Het
Lhfpl6	C	T	3: 52,950,732 (GRCm39)	A2V	probably benign	Het
Lipk	T	A	19: 34,024,279 (GRCm39)	L354Q	probably damaging	Het
Luzp2	T	A	7: 54,861,546 (GRCm39)	L225*	probably null	Het
Mknk1	C	T	4: 115,717,288 (GRCm39)	Q58*	probably null	Het
Mmut	A	T	17: 41,249,510 (GRCm39)	I162F	probably damaging	Het
Nol11	T	A	11: 107,064,199 (GRCm39)	M518L	probably benign	Het
Nubpl	T	C	12: 52,357,477 (GRCm39)		probably benign	Het
Nup35	T	A	2: 80,474,563 (GRCm39)	S93R	possibly damaging	Het
Or2t48	T	C	11: 58,420,816 (GRCm39)		probably benign	Het
Or5ak22	T	A	2: 85,230,647 (GRCm39)	I77F	probably damaging	Het
Pex3	T	C	10: 13,411,344 (GRCm39)	E178G	possibly damaging	Het
Rad23b	C	A	4: 55,370,457 (GRCm39)	P161Q	possibly damaging	Het
Sipa1l2	A	G	8: 126,178,716 (GRCm39)	S1128P	probably damaging	Het
Terb2	T	C	2: 122,035,289 (GRCm39)		probably benign	Het
Trim72	A	G	7: 127,603,942 (GRCm39)	Y96C	probably damaging	Het
Tyk2	T	C	9: 21,022,339 (GRCm39)	D830G	possibly damaging	Het
Uri1	A	G	7: 37,664,916 (GRCm39)	S259P	probably benign	Het
Usp38	A	T	8: 81,712,187 (GRCm39)	L616H	probably damaging	Het
Uspl1	T	A	5: 149,125,269 (GRCm39)	C73S	probably damaging	Het
Wdr7	C	A	18: 63,929,306 (GRCm39)	D1047E	probably benign	Het

Other mutations in Ankrd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02210:Ankrd1	APN	19	36,095,714 (GRCm39)	missense	probably damaging	1.00
IGL02383:Ankrd1	APN	19	36,097,165 (GRCm39)	missense	probably benign	0.25
R0143:Ankrd1	UTSW	19	36,096,713 (GRCm39)	missense	probably benign	0.07
R1302:Ankrd1	UTSW	19	36,092,403 (GRCm39)	missense	probably damaging	1.00
R1800:Ankrd1	UTSW	19	36,096,759 (GRCm39)	missense	probably damaging	1.00
R1832:Ankrd1	UTSW	19	36,092,378 (GRCm39)	missense	possibly damaging	0.94
R1855:Ankrd1	UTSW	19	36,096,635 (GRCm39)	missense	probably damaging	1.00
R4158:Ankrd1	UTSW	19	36,095,273 (GRCm39)	missense	probably damaging	1.00
R4160:Ankrd1	UTSW	19	36,095,273 (GRCm39)	missense	probably damaging	1.00
R4161:Ankrd1	UTSW	19	36,095,273 (GRCm39)	missense	probably damaging	1.00
R4930:Ankrd1	UTSW	19	36,092,433 (GRCm39)	missense	probably damaging	0.99
R5929:Ankrd1	UTSW	19	36,095,277 (GRCm39)	missense	possibly damaging	0.94
R7057:Ankrd1	UTSW	19	36,095,633 (GRCm39)	missense	possibly damaging	0.78
R7836:Ankrd1	UTSW	19	36,092,922 (GRCm39)	missense	possibly damaging	0.93
R7846:Ankrd1	UTSW	19	36,094,218 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16