Mutagenetix > Incidental Mutation

Incidental Mutation 'R0318:Ankrd23'

25466

Institutional Source

Beutler Lab

Gene Symbol

Ankrd23

Ensembl Gene

ENSMUSG00000067653

Gene Name

ankyrin repeat domain 23

Synonyms

1110058D09Rik, MARP3, 2310041C05Rik, MARP3, Darp

MMRRC Submission

038528-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0318 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36569269-36575964 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 36573153 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 73 (T73K)

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 benign
Transcript: ENSMUST00000054665
AA Change: T73K

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000061168
Gene: ENSMUSG00000067653
AA Change: T73K

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 benign
Transcript: ENSMUST00000194853
AA Change: T73K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000141541
Gene: ENSMUSG00000067653
AA Change: T73K

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

1x: 98.8%
3x: 97.7%
10x: 94.4%
20x: 86.5%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	A	T	15: 57,892,370 (GRCm39)	L79Q	probably damaging	Het
Add1	T	C	5: 34,782,684 (GRCm39)	V130A	probably damaging	Het
Blk	A	G	14: 63,611,646 (GRCm39)	Y430H	probably damaging	Het
C3	C	T	17: 57,531,709 (GRCm39)	V272M	probably damaging	Het
Cerk	C	T	15: 86,035,766 (GRCm39)	A254T	possibly damaging	Het
Ces2a	G	A	8: 105,467,456 (GRCm39)	A494T	probably damaging	Het
Cfap46	T	C	7: 139,234,482 (GRCm39)	Y258C	probably damaging	Het
Chaf1a	C	T	17: 56,369,227 (GRCm39)	T486I	possibly damaging	Het
Colec12	A	G	18: 9,848,446 (GRCm39)	N208S	possibly damaging	Het
Coro7	T	A	16: 4,493,671 (GRCm39)	H63L	probably benign	Het
Cps1	T	A	1: 67,216,173 (GRCm39)	W833R	probably damaging	Het
Csmd3	A	T	15: 47,522,549 (GRCm39)	W2707R	probably damaging	Het
Dbn1	C	T	13: 55,622,729 (GRCm39)	E585K	probably damaging	Het
Ddx50	A	T	10: 62,478,616 (GRCm39)	I190K	probably damaging	Het
Dnmt3l	G	A	10: 77,890,889 (GRCm39)	V264M	probably damaging	Het
Dnpep	A	G	1: 75,293,270 (GRCm39)	V33A	probably damaging	Het
Fam163a	A	G	1: 155,955,715 (GRCm39)	C26R	probably damaging	Het
Fam83h	A	G	15: 75,875,478 (GRCm39)	S620P	probably benign	Het
Fcna	A	G	2: 25,515,071 (GRCm39)	S263P	probably benign	Het
Fnip2	A	T	3: 79,419,685 (GRCm39)	S165R	probably damaging	Het
Fpr-rs3	T	C	17: 20,844,410 (GRCm39)	T244A	probably benign	Het
Gpr152	T	C	19: 4,193,541 (GRCm39)	S361P	possibly damaging	Het
Grm5	A	T	7: 87,252,175 (GRCm39)	I142L	probably damaging	Het
Gucy2g	A	G	19: 55,226,230 (GRCm39)	S229P	probably benign	Het
Htr7	C	T	19: 35,946,886 (GRCm39)	G376D	probably damaging	Het
Irgc	T	C	7: 24,131,896 (GRCm39)	D307G	probably benign	Het
Irs1	A	T	1: 82,266,381 (GRCm39)	S612T	probably benign	Het
Maml2	C	T	9: 13,531,890 (GRCm39)	T368I	probably damaging	Het
Mapkapk2	A	G	1: 131,025,072 (GRCm39)	V64A	probably damaging	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Nptx1	C	T	11: 119,433,367 (GRCm39)	E411K	probably damaging	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or5ak25	C	A	2: 85,268,581 (GRCm39)	R307M	possibly damaging	Het
Pcgf5	A	T	19: 36,389,590 (GRCm39)	K22N	possibly damaging	Het
Psmd9	C	A	5: 123,372,712 (GRCm39)	A65E	possibly damaging	Het
Sh3bp1	A	G	15: 78,795,907 (GRCm39)	T679A	probably damaging	Het
Sipa1l2	G	A	8: 126,174,436 (GRCm39)	P1281S	possibly damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc25a24	A	G	3: 109,064,316 (GRCm39)	M222V	probably benign	Het
Smg9	T	C	7: 24,120,313 (GRCm39)	F429S	possibly damaging	Het
Snapc1	C	T	12: 74,021,806 (GRCm39)	R81C	probably damaging	Het
Sorl1	T	A	9: 41,993,250 (GRCm39)	Y258F	probably damaging	Het
Srp72	C	T	5: 77,132,047 (GRCm39)	T242I	probably benign	Het
Stc1	A	T	14: 69,275,867 (GRCm39)	Q220L	probably damaging	Het
Tas2r122	T	C	6: 132,688,795 (GRCm39)	T33A	possibly damaging	Het
Tbc1d10b	A	G	7: 126,798,206 (GRCm39)	L645P	probably damaging	Het
Thoc2l	T	C	5: 104,665,619 (GRCm39)	F47S	probably benign	Het
Timd4	T	A	11: 46,727,898 (GRCm39)	H272Q	probably benign	Het
Ttll5	T	G	12: 85,923,368 (GRCm39)		probably null	Het
Veph1	G	T	3: 65,964,680 (GRCm39)	S783Y	probably damaging	Het
Vmn1r230	T	C	17: 21,067,078 (GRCm39)	L89S	possibly damaging	Het
Xcr1	A	G	9: 123,685,219 (GRCm39)	V165A	possibly damaging	Het
Zfp286	T	C	11: 62,675,788 (GRCm39)	D58G	probably damaging	Het
Zfyve26	C	T	12: 79,323,055 (GRCm39)	R897H	probably damaging	Het

Other mutations in Ankrd23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01731:Ankrd23	APN	1	36,573,147 (GRCm39)	missense	probably damaging	1.00
IGL03143:Ankrd23	APN	1	36,570,726 (GRCm39)	unclassified	probably benign
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

Predicted Primers

PCR Primer
(F):5'- ATAGGAAGGGTCTGGGACGCATTC -3'
(R):5'- GCCATGCCACCACTGATTTCAAAG -3'

Sequencing Primer
(F):5'- TGGGACGCATTCCATGCAG -3'
(R):5'- AGTTCCTGATCCTGGAGGC -3'

Posted On

2013-04-16