Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02210:Ankrd1'

284667

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ankrd1

Ensembl Gene

ENSMUSG00000024803

Gene Name

ankyrin repeat domain 1 (cardiac muscle)

Synonyms

MARP1, CARP, Alrp, Crap

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02210

Quality Score

Status

Chromosome

Chromosomal Location

36111965-36119844 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36118314 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 86 (D86G)

Ref Sequence

ENSEMBL: ENSMUSP00000025718 (fasta)

Gene Model

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

AlphaFold

Q9CR42

Predicted Effect

probably damaging
Transcript: ENSMUST00000025718
AA Change: D86G

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

SMART Domains

Protein: ENSMUSP00000025718
Gene: ENSMUSG00000024803
AA Change: D86G

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
Abcc9	A	G	6: 142,687,371	F215S	probably damaging	Het
Acvr2a	A	T	2: 48,898,526	H422L	probably damaging	Het
Adcy6	T	C	15: 98,594,971	Y908C	possibly damaging	Het
Alyref	A	C	11: 120,597,673	S110A	possibly damaging	Het
Anpep	T	A	7: 79,826,904	Y29F	probably benign	Het
Appl1	T	C	14: 26,925,952		probably benign	Het
Arrdc5	T	C	17: 56,300,026	D73G	probably damaging	Het
Atp12a	T	A	14: 56,371,744	Y142*	probably null	Het
Clec4a3	T	A	6: 122,954,108	I52N	probably damaging	Het
Cmya5	G	A	13: 93,092,734	P1949S	probably benign	Het
Crybb2	T	A	5: 113,058,387	Q194L	probably damaging	Het
Dmxl2	A	C	9: 54,404,049	L1796R	probably damaging	Het
Ecm1	A	G	3: 95,735,977	F337S	probably damaging	Het
F5	T	C	1: 164,190,141	S596P	probably benign	Het
Fat4	A	G	3: 38,891,853	T1632A	probably benign	Het
Gm5070	T	G	3: 95,410,625		noncoding transcript	Het
Hps5	T	C	7: 46,786,570	Y184C	probably benign	Het
Letmd1	T	C	15: 100,469,247		probably null	Het
Lipo5	A	T	19: 33,467,877	N97K	unknown	Het
Mis18bp1	A	T	12: 65,136,831	Y922*	probably null	Het
Mob3c	C	A	4: 115,833,755	H181N	probably damaging	Het
Muc4	A	T	16: 32,752,254	T711S	probably benign	Het
Nav3	T	C	10: 109,766,990	T1233A	probably benign	Het
Olfr1120	T	A	2: 87,358,003	D186E	probably damaging	Het
Olfr361	G	T	2: 37,085,619	T43N	possibly damaging	Het
Pcnt	T	C	10: 76,389,219	E1817G	possibly damaging	Het
Pdzd3	T	G	9: 44,248,317	T461P	probably benign	Het
Phc3	A	G	3: 30,936,709	V420A	probably damaging	Het
Plekhn1	A	T	4: 156,223,649	C316S	probably damaging	Het
Ppp1cb	T	A	5: 32,483,474		probably benign	Het
Slc29a4	T	C	5: 142,718,779	Y359H	probably damaging	Het
Sspo	T	C	6: 48,500,492	I4982T	probably damaging	Het
Sstr4	T	A	2: 148,396,309	L280Q	probably damaging	Het
Stap1	G	A	5: 86,078,061		probably null	Het
Szt2	A	G	4: 118,389,823	V865A	possibly damaging	Het
Tmem246	A	G	4: 49,586,686	Y161H	probably benign	Het
Tnr	T	A	1: 159,852,101	V215D	probably benign	Het
Trpm1	T	C	7: 64,210,865	L288P	probably damaging	Het
Ttll5	T	A	12: 85,912,545		probably benign	Het
Usp8	T	C	2: 126,718,056		probably benign	Het
Uxs1	T	C	1: 43,750,286	Y403C	possibly damaging	Het
Wnk2	T	C	13: 49,090,869	E497G	probably damaging	Het
Xdh	T	C	17: 73,943,895	K21E	probably benign	Het

Other mutations in Ankrd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02383:Ankrd1	APN	19	36119765	missense	probably benign	0.25
IGL02538:Ankrd1	APN	19	36115056	missense	probably damaging	1.00
R0143:Ankrd1	UTSW	19	36119313	missense	probably benign	0.07
R1302:Ankrd1	UTSW	19	36115003	missense	probably damaging	1.00
R1800:Ankrd1	UTSW	19	36119359	missense	probably damaging	1.00
R1832:Ankrd1	UTSW	19	36114978	missense	possibly damaging	0.94
R1855:Ankrd1	UTSW	19	36119235	missense	probably damaging	1.00
R4158:Ankrd1	UTSW	19	36117873	missense	probably damaging	1.00
R4160:Ankrd1	UTSW	19	36117873	missense	probably damaging	1.00
R4161:Ankrd1	UTSW	19	36117873	missense	probably damaging	1.00
R4930:Ankrd1	UTSW	19	36115033	missense	probably damaging	0.99
R5929:Ankrd1	UTSW	19	36117877	missense	possibly damaging	0.94
R7057:Ankrd1	UTSW	19	36118233	missense	possibly damaging	0.78
R7836:Ankrd1	UTSW	19	36115522	missense	possibly damaging	0.93
R7846:Ankrd1	UTSW	19	36116818	missense	probably damaging	0.99

Posted On

2015-04-16