Mutagenetix > Incidental Mutation

Incidental Mutation 'R9717:Ankrd52'

730548

Institutional Source

Beutler Lab

Gene Symbol

Ankrd52

Ensembl Gene

ENSMUSG00000014498

Gene Name

ankyrin repeat domain 52

Synonyms

G431002C21Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R9717 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

128377115-128408704 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 128380588 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 157 (N157S)

Ref Sequence

ENSEMBL: ENSMUSP00000014642 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014642]

AlphaFold

Q8BTI7

Predicted Effect

probably benign
Transcript: ENSMUST00000014642
AA Change: N157S

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000014642
Gene: ENSMUSG00000014498
AA Change: N157S

Domain	Start	End	E-Value	Type
ANK	7	36	4.44e2	SMART
ANK	40	69	6.55e-5	SMART
ANK	73	102	1.03e-2	SMART
ANK	106	135	1.5e1	SMART
ANK	139	168	5.49e-7	SMART
ANK	172	201	3.01e-4	SMART
ANK	205	234	1.2e-3	SMART
ANK	238	267	2.62e-4	SMART
ANK	271	301	9.78e-4	SMART
ANK	305	334	3.85e-2	SMART
ANK	338	367	5.62e-4	SMART
ANK	371	402	1.55e2	SMART
ANK	422	451	2.16e-5	SMART
ANK	455	484	3.28e-5	SMART
ANK	488	545	2.79e1	SMART
ANK	549	578	5.45e-2	SMART
ANK	584	613	1.84e1	SMART
ANK	617	646	3.85e-2	SMART
ANK	651	682	2.1e-3	SMART
ANK	687	716	6.76e-7	SMART
ANK	720	749	1.07e0	SMART
ANK	753	784	2.92e-2	SMART
ANK	790	819	1.12e-3	SMART
ANK	822	853	9.75e1	SMART
ANK	857	886	1.99e-4	SMART
ANK	890	920	5.09e-2	SMART
ANK	924	953	2.54e-2	SMART
ANK	960	989	1.34e-1	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	A	13: 81,520,781	N2552I	probably damaging	Het
Amph	G	T	13: 19,125,083	A444S	probably benign	Het
Arhgap29	T	C	3: 122,004,271	F537L	probably benign	Het
Asic1	A	C	15: 99,692,776	T136P	probably damaging	Het
Atg2b	T	C	12: 105,639,302	Y1468C	probably benign	Het
Atm	A	G	9: 53,516,517	L431P	probably damaging	Het
Btaf1	A	G	19: 36,945,246	T17A	probably benign	Het
Car10	A	G	11: 93,304,541	N58S	probably benign	Het
Cd79b	A	T	11: 106,312,019	D252E	probably damaging	Het
Cdipt	C	T	7: 126,977,030		probably benign	Het
Cebpe	T	C	14: 54,711,708	D84G	probably damaging	Het
Cenpj	T	C	14: 56,552,996	E532G	probably benign	Het
Cherp	A	G	8: 72,463,076		probably null	Het
Chuk	T	C	19: 44,082,670	D532G	possibly damaging	Het
Clec1b	C	T	6: 129,397,640	T9I	probably benign	Het
Clspn	G	T	4: 126,564,963	A280S	possibly damaging	Het
Cts3	T	G	13: 61,564,985	Y307S	probably benign	Het
Cyp2c39	T	C	19: 39,568,049	M443T	possibly damaging	Het
Dhx57	C	T	17: 80,275,018	R386H	probably damaging	Het
Dhx58	A	T	11: 100,701,307	M305K	probably benign	Het
Dlgap3	T	C	4: 127,235,494	L894P	probably damaging	Het
Dnah3	A	T	7: 119,975,076	N2164K	probably damaging	Het
Dnajb14	A	G	3: 137,902,283	N183S	probably benign	Het
Drd5	G	T	5: 38,320,747	R361L	probably damaging	Het
Duoxa1	T	C	2: 122,305,141	E159G	probably damaging	Het
Exoc1	T	A	5: 76,563,232	S659R	probably benign	Het
Fam214b	T	C	4: 43,036,050	H227R	probably damaging	Het
Fbln7	T	C	2: 128,877,394	I37T	probably benign	Het
Fcgrt	T	G	7: 45,095,429	E205A	possibly damaging	Het
Fcho2	A	T	13: 98,763,694	S304T	probably damaging	Het
Gbp9	C	A	5: 105,105,721	G43*	probably null	Het
Gm21671	T	C	5: 25,949,831	E257G	probably damaging	Het
Gucy2d	A	G	7: 98,474,661	K151R	probably benign	Het
Heatr4	T	A	12: 83,978,055	I331F	probably damaging	Het
Hmcn1	G	A	1: 150,609,627	T4408I	probably damaging	Het
Hoxc9	C	T	15: 102,982,119	T156M	probably benign	Het
Hrnr	A	T	3: 93,320,680	E35V	probably damaging	Het
Idua	C	T	5: 108,670,171	Q70*	probably null	Het
Klf5	A	T	14: 99,301,753	I201F	probably damaging	Het
Lonrf1	T	C	8: 36,234,010	K349E	probably damaging	Het
Lrp1b	A	T	2: 41,268,383	D1721E		Het
Mdh1	T	A	11: 21,571,870		probably benign	Het
Mllt11	T	C	3: 95,220,210	H83R	probably benign	Het
Mrgprb4	A	C	7: 48,198,835	I115S	possibly damaging	Het
Mrpl38	A	G	11: 116,132,470	F319S	probably damaging	Het
Naif1	A	T	2: 32,454,895	M204L	probably benign	Het
Ncan	T	A	8: 70,101,978	D1063V	probably damaging	Het
Noto	A	T	6: 85,424,345	R119W	possibly damaging	Het
Olfr1220	G	A	2: 89,097,229	L233F	probably benign	Het
Olfr147	A	T	9: 38,403,545	I224F	probably damaging	Het
Olfr573-ps1	A	T	7: 102,941,958	D206E	probably damaging	Het
Olfr816	T	A	10: 129,912,179	Y33F	probably damaging	Het
Ovch2	A	G	7: 107,794,377	W181R	probably damaging	Het
Palm	G	C	10: 79,819,283	G292R	probably damaging	Het
Pdgfrb	T	A	18: 61,072,715	L591*	probably null	Het
Pik3c2g	T	C	6: 139,896,184	S772P		Het
Prx	C	A	7: 27,517,986	D776E	probably benign	Het
Ptpra	A	G	2: 130,542,446	E562G	possibly damaging	Het
Rbm4b	A	G	19: 4,757,331	Y25C	probably damaging	Het
Reln	T	C	5: 21,931,429	T2534A	probably benign	Het
Rnf123	T	C	9: 108,077,764	S14G	probably benign	Het
Rock2	A	G	12: 16,965,601	H833R	probably benign	Het
Rxfp3	A	G	15: 11,037,025	V87A	possibly damaging	Het
S100b	G	A	10: 76,257,102	G23D	probably damaging	Het
Scn9a	T	A	2: 66,526,658	M1100L	probably benign	Het
Sept11	T	A	5: 93,148,407	S55T	possibly damaging	Het
Sv2b	T	A	7: 75,119,928	Q622L	probably benign	Het
Taar7a	T	C	10: 23,992,901	D194G	probably benign	Het
Trappc3	T	C	4: 126,275,221	I168T	probably benign	Het
Trim27	T	C	13: 21,190,126		probably null	Het
Wdr49	G	A	3: 75,397,052	T109I	probably benign	Het
Wdr64	T	C	1: 175,717,288	Y96H	probably damaging	Het
Zfp219	A	T	14: 52,009,592	L26Q	probably damaging	Het
Zfp758	T	A	17: 22,374,848	V105D	possibly damaging	Het
Zfp975	C	G	7: 42,662,908	E94Q	possibly damaging	Het
Zfyve9	C	T	4: 108,682,137	A289T	probably benign	Het
Zscan5b	T	C	7: 6,231,526	S184P	possibly damaging	Het

Other mutations in Ankrd52

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0014:Ankrd52	UTSW	10	128386452	missense	probably benign	0.37
R0014:Ankrd52	UTSW	10	128386452	missense	probably benign	0.37
R0139:Ankrd52	UTSW	10	128386138	missense	probably benign	0.35
R0226:Ankrd52	UTSW	10	128389858	splice site	probably null
R1355:Ankrd52	UTSW	10	128388696	missense	possibly damaging	0.48
R1370:Ankrd52	UTSW	10	128388696	missense	possibly damaging	0.48
R2190:Ankrd52	UTSW	10	128383618	missense	probably benign	0.01
R2566:Ankrd52	UTSW	10	128389351	missense	probably benign	0.39
R3884:Ankrd52	UTSW	10	128388955	missense	probably damaging	0.96
R4624:Ankrd52	UTSW	10	128389259	missense	probably damaging	1.00
R4706:Ankrd52	UTSW	10	128378161	missense	probably benign
R4750:Ankrd52	UTSW	10	128378089	missense	probably damaging	1.00
R4790:Ankrd52	UTSW	10	128380945	missense	possibly damaging	0.62
R4965:Ankrd52	UTSW	10	128390507	missense	probably benign	0.08
R5060:Ankrd52	UTSW	10	128389841	missense	possibly damaging	0.87
R5446:Ankrd52	UTSW	10	128388561	missense	probably damaging	1.00
R5798:Ankrd52	UTSW	10	128387610	missense	probably benign	0.01
R5977:Ankrd52	UTSW	10	128382697	missense	probably damaging	1.00
R5998:Ankrd52	UTSW	10	128383123	missense	probably damaging	1.00
R6107:Ankrd52	UTSW	10	128387012	missense	probably benign	0.19
R6478:Ankrd52	UTSW	10	128379331	splice site	probably null
R6579:Ankrd52	UTSW	10	128387142	missense	probably damaging	1.00
R6937:Ankrd52	UTSW	10	128387020	missense	probably benign	0.42
R7078:Ankrd52	UTSW	10	128383657	missense	probably benign	0.01
R7101:Ankrd52	UTSW	10	128382380	missense	probably damaging	1.00
R7252:Ankrd52	UTSW	10	128381996	missense	probably damaging	1.00
R7324:Ankrd52	UTSW	10	128386163	missense	possibly damaging	0.74
R7505:Ankrd52	UTSW	10	128390055	missense	probably damaging	0.99
R7979:Ankrd52	UTSW	10	128381988	missense	probably damaging	1.00
R8178:Ankrd52	UTSW	10	128389301	missense	probably damaging	1.00
R8520:Ankrd52	UTSW	10	128389490	missense	probably damaging	1.00
R8985:Ankrd52	UTSW	10	128387109	missense	probably damaging	1.00
R9068:Ankrd52	UTSW	10	128381981	missense	probably damaging	1.00
X0028:Ankrd52	UTSW	10	128381851	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GTTCTCCAGATTGTTCTGCTCAAG -3'
(R):5'- TTTCAGGACCTCTAAATGCCC -3'

Sequencing Primer
(F):5'- TTCTGCTCAAGAACAGAGGTATAGCC -3'
(R):5'- GGACCTCTAAATGCCCTATGAAG -3'

Posted On

2022-10-06