Mutagenetix > Incidental Mutations

Incidental Mutation 'R8520:Ankrd52'

658602

Institutional Source

Beutler Lab

Gene Symbol

Ankrd52

Ensembl Gene

ENSMUSG00000014498

Gene Name

ankyrin repeat domain 52

Synonyms

G431002C21Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R8520 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

128377115-128408704 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 128389490 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 911 (L911P)

Ref Sequence

ENSEMBL: ENSMUSP00000014642 (fasta)

Gene Model

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

AlphaFold

Q8BTI7

Predicted Effect

probably damaging
Transcript: ENSMUST00000014642
AA Change: L911P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000014642
Gene: ENSMUSG00000014498
AA Change: L911P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000166577
AA Change: L38P

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

SMART Domains

Protein: ENSMUSP00000128794
Gene: ENSMUSG00000014498
AA Change: L38P

Domain	Start	End	E-Value	Type
ANK	18	48	5.09e-2	SMART
ANK	52	81	2.54e-2	SMART
ANK	88	117	1.34e-1	SMART
Blast:ANK	121	148	3e-9	BLAST

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	A	T	13: 59,690,609	F136L	possibly damaging	Het
A430033K04Rik	T	A	5: 138,646,706	N284K	possibly damaging	Het
Abcb1a	T	C	5: 8,685,346	I151T	possibly damaging	Het
Adam28	C	T	14: 68,642,083	G172D	probably damaging	Het
Adcy6	A	G	15: 98,604,160	V191A	probably benign	Het
C5ar1	A	G	7: 16,248,151	S315P	probably damaging	Het
Cubn	A	G	2: 13,308,520		probably null	Het
Dlec1	T	C	9: 119,112,209	S276P	probably benign	Het
Dnah14	T	A	1: 181,653,638	I1564N	probably damaging	Het
Dsg2	G	A	18: 20,579,451	G171R	probably damaging	Het
Dusp13	C	A	14: 21,743,470	G208*	probably null	Het
Ebf3	A	C	7: 137,201,124		probably null	Het
Fbn2	A	T	18: 58,038,198		probably null	Het
Fbxo27	A	G	7: 28,693,342	D16G	probably benign	Het
G6pc3	A	G	11: 102,193,108	S187G	probably benign	Het
Gucy2d	G	A	7: 98,472,306	V995I	probably null	Het
Hmcn2	C	A	2: 31,354,714	P728T	probably damaging	Het
Il1r2	T	C	1: 40,105,339	L62P	probably damaging	Het
Ints7	T	C	1: 191,582,491	S63P	probably damaging	Het
Mcf2l	C	A	8: 12,880,089	D36E	probably benign	Het
Mfsd13b	T	G	7: 120,991,363	I109S	probably benign	Het
Mier2	G	A	10: 79,542,429	H385Y	possibly damaging	Het
Mydgf	C	A	17: 56,183,734		probably null	Het
Nanog	A	T	6: 122,713,516	L268F	possibly damaging	Het
Olfr305	A	T	7: 86,364,263	C25S	probably benign	Het
Olfr536	T	A	7: 140,504,402	D19V	probably benign	Het
Otud4	T	A	8: 79,659,267	N256K	probably damaging	Het
P2rx1	A	T	11: 73,008,953	D128V	probably benign	Het
Pappa	G	A	4: 65,335,764	V1552I	probably benign	Het
Pax8	A	T	2: 24,443,022	F103I	probably damaging	Het
Ptk2b	T	A	14: 66,174,755	S396C	probably damaging	Het
Rnf148	A	G	6: 23,654,170	Y276H	probably damaging	Het
Sec11c	A	T	18: 65,814,840	I93L	probably damaging	Het
Serpinb2	T	A	1: 107,523,180	N217K	probably benign	Het
Slc2a13	T	A	15: 91,572,902	T66S	probably damaging	Het
Slc4a3	T	C	1: 75,549,862	M9T	probably benign	Het
Sord	G	A	2: 122,256,942	V176I	possibly damaging	Het
Thbs4	G	A	13: 92,754,284	Q892*	probably null	Het
Thsd7b	T	A	1: 129,921,420	D956E	probably benign	Het
Tmem251	T	A	12: 102,744,172		probably null	Het
Topbp1	T	A	9: 103,308,977		probably null	Het
Tst	T	C	15: 78,405,253	E194G	probably damaging	Het
Ttk	T	A	9: 83,857,327	S484T	possibly damaging	Het
U2surp	A	G	9: 95,502,554	S26P	possibly damaging	Het
Ugt2b37	C	T	5: 87,240,855	A500T	probably benign	Het
Utrn	A	T	10: 12,670,186	Y1669*	probably null	Het
Vmn2r23	A	T	6: 123,741,656	Q656L	probably damaging	Het
Wdr7	A	G	18: 63,987,160	N1424S	probably benign	Het
Xkr9	A	G	1: 13,701,379	D373G	probably benign	Het
Zfp984	T	A	4: 147,756,211	Y61F	probably benign	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
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'- AAGCCGAAGTGAATGCCAC -3'
(R):5'- AGGTACTTGGAACAGAAGCC -3'

Sequencing Primer
(F):5'- GAAGTGAATGCCACCGACC -3'
(R):5'- GAGACATGCTTCACCAGTCAGG -3'

Posted On

2021-01-18