Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01731:Ankrd23'

105502

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ankrd23

Ensembl Gene

ENSMUSG00000067653

Gene Name

ankyrin repeat domain 23

Synonyms

1110058D09Rik, MARP3, 2310041C05Rik, MARP3, Darp

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01731

Quality Score

Status

Chromosome

Chromosomal Location

36569269-36575964 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36573147 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 75 (L75S)

Ref Sequence

ENSEMBL: ENSMUSP00000061168 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001172] [ENSMUST00000054665] [ENSMUST00000191849] [ENSMUST00000193083] [ENSMUST00000194853] [ENSMUST00000207088] [ENSMUST00000207843]

AlphaFold

Q812A3

Predicted Effect

probably benign
Transcript: ENSMUST00000001172

SMART Domains

Protein: ENSMUSP00000001172
Gene: ENSMUSG00000079610

Domain	Start	End	E-Value	Type
ANK	30	59	8.77e2	SMART
ANK	63	92	1.08e-5	SMART
ANK	96	127	1.27e-2	SMART
ANK	129	158	5.62e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000054665
AA Change: L75S

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

SMART Domains

Protein: ENSMUSP00000061168
Gene: ENSMUSG00000067653
AA Change: L75S

Domain	Start	End	E-Value	Type
coiled coil region	45	74	N/A	INTRINSIC
low complexity region	79	94	N/A	INTRINSIC
Blast:ANK	111	140	1e-9	BLAST
ANK	144	173	1.12e-3	SMART
ANK	177	206	1.4e-4	SMART
ANK	210	239	9.27e-5	SMART
ANK	243	272	7.42e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000191849

SMART Domains

Protein: ENSMUSP00000142202
Gene: ENSMUSG00000109510

Domain	Start	End	E-Value	Type
Blast:ANK	1	26	9e-9	BLAST
ANK	30	59	1.12e-3	SMART
ANK	63	92	1.4e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000193083

SMART Domains

Protein: ENSMUSP00000141394
Gene: ENSMUSG00000067653

Domain	Start	End	E-Value	Type
Blast:ANK	1	26	1e-8	BLAST
ANK	30	59	6.9e-6	SMART
ANK	63	92	8.9e-7	SMART
ANK	96	125	5.7e-7	SMART
ANK	129	158	4.6e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193991

Predicted Effect

probably damaging
Transcript: ENSMUST00000194853
AA Change: L75S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000141541
Gene: ENSMUSG00000067653
AA Change: L75S

Domain	Start	End	E-Value	Type
coiled coil region	45	74	N/A	INTRINSIC
low complexity region	79	94	N/A	INTRINSIC
Blast:ANK	111	140	2e-9	BLAST
ANK	144	173	1.12e-3	SMART
ANK	177	206	1.4e-4	SMART
ANK	210	239	7.42e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000207088

Predicted Effect

probably benign
Transcript: ENSMUST00000207843

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the muscle ankyrin repeat protein (MARP) family and encodes a protein with four tandem ankyrin-like repeats. The protein is localized to the nucleus, functioning as a transcriptional regulator. Expression of this protein is induced during recovery following starvation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile, and exhibit no apparent cardiac phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430093F15Rik	T	A	19: 10,762,711 (GRCm39)		probably benign	Het
Abca13	T	C	11: 9,199,749 (GRCm39)		probably benign	Het
Abcc6	G	A	7: 45,652,034 (GRCm39)	P611L	possibly damaging	Het
Acsl6	A	G	11: 54,241,385 (GRCm39)	E547G	probably benign	Het
Aldh1b1	T	C	4: 45,803,472 (GRCm39)	F337L	possibly damaging	Het
Alg1	C	T	16: 5,062,383 (GRCm39)	R422C	probably benign	Het
Arid5b	T	C	10: 67,933,439 (GRCm39)	H578R	probably damaging	Het
Atp10a	G	T	7: 58,447,310 (GRCm39)	W684L	probably benign	Het
Bzw2	T	C	12: 36,157,647 (GRCm39)		probably null	Het
C2cd2	A	T	16: 97,671,372 (GRCm39)	I509K	probably damaging	Het
Card11	T	C	5: 140,868,057 (GRCm39)	T864A	possibly damaging	Het
Ces1f	A	G	8: 93,993,948 (GRCm39)	S278P	possibly damaging	Het
Chd8	T	C	14: 52,450,111 (GRCm39)	I208V	probably benign	Het
Cstf2t	T	C	19: 31,061,738 (GRCm39)	S425P	probably benign	Het
Cxcl1	A	G	5: 91,039,436 (GRCm39)	T60A	probably benign	Het
Diaph1	G	T	18: 37,986,762 (GRCm39)		probably benign	Het
Dnai4	T	C	4: 102,919,632 (GRCm39)	I139V	probably benign	Het
Exoc3l	T	G	8: 106,019,587 (GRCm39)	K394T	probably benign	Het
Fabp4	T	C	3: 10,270,293 (GRCm39)		probably benign	Het
Fam234b	T	A	6: 135,188,903 (GRCm39)	F169L	possibly damaging	Het
Hectd1	C	A	12: 51,849,593 (GRCm39)	D204Y	possibly damaging	Het
Hephl1	A	T	9: 14,981,066 (GRCm39)	Y789N	probably damaging	Het
Igfbp6	C	A	15: 102,053,252 (GRCm39)	N90K	probably benign	Het
Khdrbs1	A	T	4: 129,619,462 (GRCm39)	D226E	probably benign	Het
Lipo4	T	A	19: 33,490,013 (GRCm39)	Q163L	probably damaging	Het
Med13l	T	C	5: 118,880,472 (GRCm39)	I1188T	probably benign	Het
Mki67	T	C	7: 135,298,278 (GRCm39)	E2252G	probably benign	Het
Nepn	G	T	10: 52,276,660 (GRCm39)	R132L	probably benign	Het
Nlrp9b	T	A	7: 19,757,342 (GRCm39)	L193*	probably null	Het
Ntn1	A	G	11: 68,276,244 (GRCm39)	S235P	probably damaging	Het
Nup210l	G	T	3: 90,061,873 (GRCm39)	R684L	probably damaging	Het
Obi1	T	C	14: 104,716,738 (GRCm39)	D545G	probably damaging	Het
Obp2b	A	G	2: 25,629,293 (GRCm39)	S154G	possibly damaging	Het
Or10ag59	A	G	2: 87,406,282 (GRCm39)	T285A	probably benign	Het
Or4f57	A	G	2: 111,790,980 (GRCm39)	V146A	probably benign	Het
Or51b6b	T	A	7: 103,310,053 (GRCm39)	T135S	probably benign	Het
Or5p1	A	T	7: 107,916,682 (GRCm39)	I194F	probably benign	Het
Polr3b	A	T	10: 84,467,704 (GRCm39)	R95*	probably null	Het
Prelid2	C	T	18: 42,070,714 (GRCm39)	V40M	probably benign	Het
Ptprb	T	G	10: 116,208,781 (GRCm39)	L2205R	probably damaging	Het
R3hcc1l	T	C	19: 42,551,240 (GRCm39)	V79A	probably benign	Het
Stam2	A	G	2: 52,598,162 (GRCm39)	I259T	probably damaging	Het
Tdpoz4	A	T	3: 93,704,189 (GRCm39)	N162I	possibly damaging	Het
Tuba3a	A	G	6: 125,259,721 (GRCm39)	V75A	possibly damaging	Het
Vmn2r73	A	T	7: 85,506,757 (GRCm39)	*852K	probably null	Het
Zfp7	C	T	15: 76,772,505 (GRCm39)	Q69*	probably null	Het
Zfp865	G	T	7: 5,032,875 (GRCm39)	A287S	probably benign	Het
Zmpste24	T	A	4: 120,955,081 (GRCm39)	Q39L	probably benign	Het

Other mutations in Ankrd23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03143:Ankrd23	APN	1	36,570,726 (GRCm39)	unclassified	probably benign
R0318:Ankrd23	UTSW	1	36,573,153 (GRCm39)	missense	probably benign	0.03
R4926:Ankrd23	UTSW	1	36,571,068 (GRCm39)	missense	probably damaging	1.00
R7788:Ankrd23	UTSW	1	36,570,808 (GRCm39)	missense	probably damaging	1.00
R8708:Ankrd23	UTSW	1	36,573,169 (GRCm39)	missense	probably benign	0.03

Posted On

2014-01-21