Mutagenetix > Incidental Mutation

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

067947-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R8520 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

128212993-128229875 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 128225359 bp (GRCm39)

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: 59,838,423 (GRCm39)	F136L	possibly damaging	Het
A430033K04Rik	T	A	5: 138,644,968 (GRCm39)	N284K	possibly damaging	Het
Abcb1a	T	C	5: 8,735,346 (GRCm39)	I151T	possibly damaging	Het
Adam28	C	T	14: 68,879,532 (GRCm39)	G172D	probably damaging	Het
Adcy6	A	G	15: 98,502,041 (GRCm39)	V191A	probably benign	Het
C5ar1	A	G	7: 15,982,076 (GRCm39)	S315P	probably damaging	Het
Cubn	A	G	2: 13,313,331 (GRCm39)		probably null	Het
Dlec1	T	C	9: 118,941,277 (GRCm39)	S276P	probably benign	Het
Dnah14	T	A	1: 181,481,203 (GRCm39)	I1564N	probably damaging	Het
Dsg2	G	A	18: 20,712,508 (GRCm39)	G171R	probably damaging	Het
Dusp13b	C	A	14: 21,793,538 (GRCm39)	G208*	probably null	Het
Ebf3	A	C	7: 136,802,853 (GRCm39)		probably null	Het
Fbn2	A	T	18: 58,171,270 (GRCm39)		probably null	Het
Fbxo27	A	G	7: 28,392,767 (GRCm39)	D16G	probably benign	Het
G6pc3	A	G	11: 102,083,934 (GRCm39)	S187G	probably benign	Het
Gucy2d	G	A	7: 98,121,513 (GRCm39)	V995I	probably null	Het
Hmcn2	C	A	2: 31,244,726 (GRCm39)	P728T	probably damaging	Het
Il1r2	T	C	1: 40,144,499 (GRCm39)	L62P	probably damaging	Het
Ints7	T	C	1: 191,314,603 (GRCm39)	S63P	probably damaging	Het
Lyset	T	A	12: 102,710,431 (GRCm39)		probably null	Het
Mcf2l	C	A	8: 12,930,089 (GRCm39)	D36E	probably benign	Het
Mfsd13b	T	G	7: 120,590,586 (GRCm39)	I109S	probably benign	Het
Mier2	G	A	10: 79,378,263 (GRCm39)	H385Y	possibly damaging	Het
Mydgf	C	A	17: 56,490,734 (GRCm39)		probably null	Het
Nanog	A	T	6: 122,690,475 (GRCm39)	L268F	possibly damaging	Het
Or12j5	T	A	7: 140,084,315 (GRCm39)	D19V	probably benign	Het
Or14a259	A	T	7: 86,013,471 (GRCm39)	C25S	probably benign	Het
Otud4	T	A	8: 80,385,896 (GRCm39)	N256K	probably damaging	Het
P2rx1	A	T	11: 72,899,779 (GRCm39)	D128V	probably benign	Het
Pappa	G	A	4: 65,254,001 (GRCm39)	V1552I	probably benign	Het
Pax8	A	T	2: 24,333,034 (GRCm39)	F103I	probably damaging	Het
Ptk2b	T	A	14: 66,412,204 (GRCm39)	S396C	probably damaging	Het
Rnf148	A	G	6: 23,654,169 (GRCm39)	Y276H	probably damaging	Het
Sec11c	A	T	18: 65,947,911 (GRCm39)	I93L	probably damaging	Het
Serpinb2	T	A	1: 107,450,910 (GRCm39)	N217K	probably benign	Het
Slc2a13	T	A	15: 91,457,105 (GRCm39)	T66S	probably damaging	Het
Slc4a3	T	C	1: 75,526,506 (GRCm39)	M9T	probably benign	Het
Sord	G	A	2: 122,087,423 (GRCm39)	V176I	possibly damaging	Het
Thbs4	G	A	13: 92,890,792 (GRCm39)	Q892*	probably null	Het
Thsd7b	T	A	1: 129,849,157 (GRCm39)	D956E	probably benign	Het
Topbp1	T	A	9: 103,186,176 (GRCm39)		probably null	Het
Tst	T	C	15: 78,289,453 (GRCm39)	E194G	probably damaging	Het
Ttk	T	A	9: 83,739,380 (GRCm39)	S484T	possibly damaging	Het
U2surp	A	G	9: 95,384,607 (GRCm39)	S26P	possibly damaging	Het
Ugt2b37	C	T	5: 87,388,714 (GRCm39)	A500T	probably benign	Het
Utrn	A	T	10: 12,545,930 (GRCm39)	Y1669*	probably null	Het
Vmn2r23	A	T	6: 123,718,615 (GRCm39)	Q656L	probably damaging	Het
Wdr7	A	G	18: 64,120,231 (GRCm39)	N1424S	probably benign	Het
Xkr9	A	G	1: 13,771,603 (GRCm39)	D373G	probably benign	Het
Zfp984	T	A	4: 147,840,668 (GRCm39)	Y61F	probably benign	Het

Other mutations in Ankrd52

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0014:Ankrd52	UTSW	10	128,222,321 (GRCm39)	missense	probably benign	0.37
R0014:Ankrd52	UTSW	10	128,222,321 (GRCm39)	missense	probably benign	0.37
R0139:Ankrd52	UTSW	10	128,222,007 (GRCm39)	missense	probably benign	0.35
R0226:Ankrd52	UTSW	10	128,225,727 (GRCm39)	splice site	probably null
R1355:Ankrd52	UTSW	10	128,224,565 (GRCm39)	missense	possibly damaging	0.48
R1370:Ankrd52	UTSW	10	128,224,565 (GRCm39)	missense	possibly damaging	0.48
R2190:Ankrd52	UTSW	10	128,219,487 (GRCm39)	missense	probably benign	0.01
R2566:Ankrd52	UTSW	10	128,225,220 (GRCm39)	missense	probably benign	0.39
R3884:Ankrd52	UTSW	10	128,224,824 (GRCm39)	missense	probably damaging	0.96
R4624:Ankrd52	UTSW	10	128,225,128 (GRCm39)	missense	probably damaging	1.00
R4706:Ankrd52	UTSW	10	128,214,030 (GRCm39)	missense	probably benign
R4750:Ankrd52	UTSW	10	128,213,958 (GRCm39)	missense	probably damaging	1.00
R4790:Ankrd52	UTSW	10	128,216,814 (GRCm39)	missense	possibly damaging	0.62
R4965:Ankrd52	UTSW	10	128,226,376 (GRCm39)	missense	probably benign	0.08
R5060:Ankrd52	UTSW	10	128,225,710 (GRCm39)	missense	possibly damaging	0.87
R5446:Ankrd52	UTSW	10	128,224,430 (GRCm39)	missense	probably damaging	1.00
R5798:Ankrd52	UTSW	10	128,223,479 (GRCm39)	missense	probably benign	0.01
R5977:Ankrd52	UTSW	10	128,218,566 (GRCm39)	missense	probably damaging	1.00
R5998:Ankrd52	UTSW	10	128,218,992 (GRCm39)	missense	probably damaging	1.00
R6107:Ankrd52	UTSW	10	128,222,881 (GRCm39)	missense	probably benign	0.19
R6478:Ankrd52	UTSW	10	128,215,200 (GRCm39)	splice site	probably null
R6579:Ankrd52	UTSW	10	128,223,011 (GRCm39)	missense	probably damaging	1.00
R6937:Ankrd52	UTSW	10	128,222,889 (GRCm39)	missense	probably benign	0.42
R7078:Ankrd52	UTSW	10	128,219,526 (GRCm39)	missense	probably benign	0.01
R7101:Ankrd52	UTSW	10	128,218,249 (GRCm39)	missense	probably damaging	1.00
R7252:Ankrd52	UTSW	10	128,217,865 (GRCm39)	missense	probably damaging	1.00
R7324:Ankrd52	UTSW	10	128,222,032 (GRCm39)	missense	possibly damaging	0.74
R7505:Ankrd52	UTSW	10	128,225,924 (GRCm39)	missense	probably damaging	0.99
R7979:Ankrd52	UTSW	10	128,217,857 (GRCm39)	missense	probably damaging	1.00
R8178:Ankrd52	UTSW	10	128,225,170 (GRCm39)	missense	probably damaging	1.00
R8985:Ankrd52	UTSW	10	128,222,978 (GRCm39)	missense	probably damaging	1.00
R9068:Ankrd52	UTSW	10	128,217,850 (GRCm39)	missense	probably damaging	1.00
R9717:Ankrd52	UTSW	10	128,216,457 (GRCm39)	missense	probably benign	0.18
X0028:Ankrd52	UTSW	10	128,217,720 (GRCm39)	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