Mutagenetix > Incidental Mutation

Incidental Mutation 'R0226:Ankrd52'

33945

Institutional Source

Beutler Lab

Gene Symbol

Ankrd52

Ensembl Gene

ENSMUSG00000014498

Gene Name

ankyrin repeat domain 52

Synonyms

G431002C21Rik

MMRRC Submission

038471-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R0226 (G1)

Quality Score

168

Status

Validated

Chromosome

Chromosomal Location

128377115-128408704 bp(+) (GRCm38)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

T to A at 128389858 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q8BTI7

Predicted Effect

probably null
Transcript: ENSMUST00000014642

SMART Domains

Protein: ENSMUSP00000014642
Gene: ENSMUSG00000014498

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 null
Transcript: ENSMUST00000166577

SMART Domains

Protein: ENSMUSP00000128794
Gene: ENSMUSG00000014498

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167226

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167990

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198839

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.4%

Validation Efficiency

100% (98/98)

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	G	T	14: 59,142,120 (GRCm38)	T54K	possibly damaging	Het
2210408I21Rik	A	T	13: 77,303,425 (GRCm38)	E876V	possibly damaging	Het
Aasdh	A	T	5: 76,902,002 (GRCm38)	L49Q	probably damaging	Het
Abca8b	T	C	11: 109,957,018 (GRCm38)		probably null	Het
Ablim1	A	T	19: 57,043,870 (GRCm38)	L556Q	probably damaging	Het
Afdn	A	G	17: 13,899,146 (GRCm38)	T1700A	probably benign	Het
Agl	G	A	3: 116,752,071 (GRCm38)	R1359C	probably damaging	Het
Agpat3	T	A	10: 78,278,029 (GRCm38)	H275L	possibly damaging	Het
Ahcyl1	A	T	3: 107,670,270 (GRCm38)	C180*	probably null	Het
Aim2	A	G	1: 173,462,333 (GRCm38)		probably benign	Het
Angpt1	T	C	15: 42,468,235 (GRCm38)	N320S	probably benign	Het
Ap1g1	C	T	8: 109,855,062 (GRCm38)	S654L	probably benign	Het
Bpifa1	T	A	2: 154,146,057 (GRCm38)	S173R	probably benign	Het
Brd8	T	C	18: 34,603,894 (GRCm38)		probably benign	Het
Btbd9	C	T	17: 30,274,942 (GRCm38)	D492N	possibly damaging	Het
C1qtnf2	A	G	11: 43,490,843 (GRCm38)	T161A	probably benign	Het
Car6	T	C	4: 150,187,508 (GRCm38)	Y228C	probably damaging	Het
Ccdc149	A	G	5: 52,400,217 (GRCm38)	L273P	probably damaging	Het
Cit	G	A	5: 115,984,840 (GRCm38)	R1405Q	probably damaging	Het
Cox17	T	C	16: 38,349,276 (GRCm38)	L48P	probably damaging	Het
Cttn	A	G	7: 144,441,852 (GRCm38)		probably benign	Het
Cyp4f18	T	C	8: 71,989,775 (GRCm38)		probably benign	Het
Dtnbp1	A	G	13: 44,923,193 (GRCm38)	L175P	probably damaging	Het
Efl1	T	C	7: 82,693,011 (GRCm38)		probably benign	Het
Fbn1	C	T	2: 125,320,910 (GRCm38)	R2152Q	possibly damaging	Het
Fignl1	A	T	11: 11,801,061 (GRCm38)	S665T	probably benign	Het
Gm884	A	T	11: 103,603,241 (GRCm38)	F663L	probably benign	Het
Gm9843	A	T	16: 76,403,561 (GRCm38)		noncoding transcript	Het
Gpr155	C	T	2: 73,367,592 (GRCm38)	V395I	probably benign	Het
Greb1l	T	C	18: 10,522,076 (GRCm38)		probably benign	Het
Hdgfl1	A	T	13: 26,769,996 (GRCm38)	H31Q	probably benign	Het
Heatr1	T	C	13: 12,410,562 (GRCm38)	S628P	probably damaging	Het
Hivep2	A	G	10: 14,129,712 (GRCm38)	T685A	probably benign	Het
Hmgcl	T	G	4: 135,958,728 (GRCm38)	V168G	probably damaging	Het
Itch	T	C	2: 155,199,394 (GRCm38)	I454T	probably benign	Het
Itih2	T	C	2: 10,115,299 (GRCm38)	D309G	possibly damaging	Het
Kcmf1	T	C	6: 72,842,952 (GRCm38)	I304V	probably benign	Het
Kcnh1	G	T	1: 192,276,805 (GRCm38)	W222C	probably damaging	Het
Kcnh1	G	A	1: 192,276,804 (GRCm38)	W222*	probably null	Het
Kif24	T	A	4: 41,414,939 (GRCm38)	K287*	probably null	Het
Lrig3	A	G	10: 125,972,117 (GRCm38)		probably benign	Het
Lrp2	A	T	2: 69,537,563 (GRCm38)	C202S	probably null	Het
Lrrn2	A	G	1: 132,937,820 (GRCm38)	N208D	probably damaging	Het
Mcm5	C	T	8: 75,126,252 (GRCm38)	T664I	possibly damaging	Het
Mfsd10	A	G	5: 34,634,446 (GRCm38)	L365S	probably benign	Het
Mfsd6	A	G	1: 52,658,690 (GRCm38)		probably benign	Het
Mgat4e	A	G	1: 134,541,103 (GRCm38)	V401A	probably benign	Het
Mllt3	C	A	4: 87,840,732 (GRCm38)	V360L	probably benign	Het
Mrm1	G	A	11: 84,819,170 (GRCm38)	A68V	possibly damaging	Het
Myo19	A	G	11: 84,897,732 (GRCm38)		probably benign	Het
Myo3b	A	G	2: 70,217,166 (GRCm38)	T311A	probably benign	Het
Myo5b	T	C	18: 74,742,180 (GRCm38)	F1552L	probably benign	Het
Myo7b	C	T	18: 31,972,896 (GRCm38)	V1353I	probably benign	Het
Myo9b	T	C	8: 71,353,832 (GRCm38)	S1512P	probably damaging	Het
Nanos3	C	T	8: 84,176,134 (GRCm38)	R133Q	probably damaging	Het
Osbpl3	A	G	6: 50,353,008 (GRCm38)	W63R	probably damaging	Het
Pcdh17	T	C	14: 84,448,201 (GRCm38)	S703P	probably damaging	Het
Pclo	T	C	5: 14,765,223 (GRCm38)	I1231T	probably damaging	Het
Pex16	A	C	2: 92,375,687 (GRCm38)		probably benign	Het
Pfkl	T	C	10: 77,992,534 (GRCm38)	N399S	probably benign	Het
Pkhd1l1	G	A	15: 44,526,784 (GRCm38)	R1432K	possibly damaging	Het
Prdm1	T	A	10: 44,456,696 (GRCm38)	T106S	probably benign	Het
Prrc1	A	G	18: 57,363,291 (GRCm38)	M105V	probably benign	Het
Psg26	A	G	7: 18,483,958 (GRCm38)	C12R	possibly damaging	Het
Rnf43	A	T	11: 87,731,437 (GRCm38)	S455C	probably damaging	Het
Ryr2	T	C	13: 11,772,556 (GRCm38)	K977R	probably damaging	Het
Sart1	C	T	19: 5,381,122 (GRCm38)		probably benign	Het
Sec14l5	A	G	16: 5,180,303 (GRCm38)	S509G	probably benign	Het
Sin3b	A	T	8: 72,744,508 (GRCm38)	E361V	probably benign	Het
Slc35e3	C	T	10: 117,740,890 (GRCm38)	E179K	possibly damaging	Het
Sntb2	T	C	8: 107,001,583 (GRCm38)	S388P	probably damaging	Het
Srms	A	G	2: 181,212,382 (GRCm38)	S131P	probably benign	Het
Stxbp5	T	C	10: 9,866,698 (GRCm38)		probably benign	Het
Taar2	T	C	10: 23,941,063 (GRCm38)	V167A	probably damaging	Het
Taar2	G	A	10: 23,941,495 (GRCm38)	R311H	probably benign	Het
Thsd7a	A	G	6: 12,321,900 (GRCm38)	Y1516H	possibly damaging	Het
Tlk1	T	A	2: 70,714,169 (GRCm38)		probably benign	Het
Tmem173	A	T	18: 35,739,088 (GRCm38)	F120L	probably benign	Het
Tnfaip3	T	C	10: 19,002,747 (GRCm38)	K771R	probably damaging	Het
Treml1	C	T	17: 48,360,458 (GRCm38)	L124F	probably damaging	Het
Ttn	G	T	2: 76,780,797 (GRCm38)	Q9137K	possibly damaging	Het
Unkl	T	A	17: 25,230,711 (GRCm38)	I469N	probably damaging	Het
Vmn1r173	G	T	7: 23,703,083 (GRCm38)	V248L	possibly damaging	Het
Vps35	T	C	8: 85,273,575 (GRCm38)	Q474R	probably damaging	Het
Wdr17	T	A	8: 54,663,008 (GRCm38)	T580S	probably benign	Het
Xpnpep1	T	C	19: 53,010,152 (GRCm38)	K222E	probably benign	Het
Ylpm1	A	G	12: 85,049,737 (GRCm38)	T1446A	probably benign	Het
Zfp277	A	G	12: 40,364,162 (GRCm38)	L228S	possibly damaging	Het
Zfp941	T	A	7: 140,813,275 (GRCm38)	K57M	probably damaging	Het
Zmpste24	A	T	4: 121,081,209 (GRCm38)	S244R	probably benign	Het

Other mutations in Ankrd52

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0014:Ankrd52	UTSW	10	128,386,452 (GRCm38)	missense	probably benign	0.37
R0014:Ankrd52	UTSW	10	128,386,452 (GRCm38)	missense	probably benign	0.37
R0139:Ankrd52	UTSW	10	128,386,138 (GRCm38)	missense	probably benign	0.35
R1355:Ankrd52	UTSW	10	128,388,696 (GRCm38)	missense	possibly damaging	0.48
R1370:Ankrd52	UTSW	10	128,388,696 (GRCm38)	missense	possibly damaging	0.48
R2190:Ankrd52	UTSW	10	128,383,618 (GRCm38)	missense	probably benign	0.01
R2566:Ankrd52	UTSW	10	128,389,351 (GRCm38)	missense	probably benign	0.39
R3884:Ankrd52	UTSW	10	128,388,955 (GRCm38)	missense	probably damaging	0.96
R4624:Ankrd52	UTSW	10	128,389,259 (GRCm38)	missense	probably damaging	1.00
R4706:Ankrd52	UTSW	10	128,378,161 (GRCm38)	missense	probably benign
R4750:Ankrd52	UTSW	10	128,378,089 (GRCm38)	missense	probably damaging	1.00
R4790:Ankrd52	UTSW	10	128,380,945 (GRCm38)	missense	possibly damaging	0.62
R4965:Ankrd52	UTSW	10	128,390,507 (GRCm38)	missense	probably benign	0.08
R5060:Ankrd52	UTSW	10	128,389,841 (GRCm38)	missense	possibly damaging	0.87
R5446:Ankrd52	UTSW	10	128,388,561 (GRCm38)	missense	probably damaging	1.00
R5798:Ankrd52	UTSW	10	128,387,610 (GRCm38)	missense	probably benign	0.01
R5977:Ankrd52	UTSW	10	128,382,697 (GRCm38)	missense	probably damaging	1.00
R5998:Ankrd52	UTSW	10	128,383,123 (GRCm38)	missense	probably damaging	1.00
R6107:Ankrd52	UTSW	10	128,387,012 (GRCm38)	missense	probably benign	0.19
R6478:Ankrd52	UTSW	10	128,379,331 (GRCm38)	splice site	probably null
R6579:Ankrd52	UTSW	10	128,387,142 (GRCm38)	missense	probably damaging	1.00
R6937:Ankrd52	UTSW	10	128,387,020 (GRCm38)	missense	probably benign	0.42
R7078:Ankrd52	UTSW	10	128,383,657 (GRCm38)	missense	probably benign	0.01
R7101:Ankrd52	UTSW	10	128,382,380 (GRCm38)	missense	probably damaging	1.00
R7252:Ankrd52	UTSW	10	128,381,996 (GRCm38)	missense	probably damaging	1.00
R7324:Ankrd52	UTSW	10	128,386,163 (GRCm38)	missense	possibly damaging	0.74
R7505:Ankrd52	UTSW	10	128,390,055 (GRCm38)	missense	probably damaging	0.99
R7979:Ankrd52	UTSW	10	128,381,988 (GRCm38)	missense	probably damaging	1.00
R8178:Ankrd52	UTSW	10	128,389,301 (GRCm38)	missense	probably damaging	1.00
R8520:Ankrd52	UTSW	10	128,389,490 (GRCm38)	missense	probably damaging	1.00
R8985:Ankrd52	UTSW	10	128,387,109 (GRCm38)	missense	probably damaging	1.00
R9068:Ankrd52	UTSW	10	128,381,981 (GRCm38)	missense	probably damaging	1.00
R9717:Ankrd52	UTSW	10	128,380,588 (GRCm38)	missense	probably benign	0.18
X0028:Ankrd52	UTSW	10	128,381,851 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AACTAGGCGACCTGACTGGTGAAG -3'
(R):5'- ACTGTAGCCAGAAAACCAGGCG -3'

Sequencing Primer
(F):5'- ACCTGACTGGTGAAGCATGTC -3'
(R):5'- TTCCCCTGGGAAGAAAATTTCAC -3'

Posted On

2013-05-09