Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01875:Ankrd53'

178868

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ankrd53

Ensembl Gene

ENSMUSG00000014747

Gene Name

ankyrin repeat domain 53

Synonyms

4930564N15Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01875

Quality Score

Status

Chromosome

Chromosomal Location

83739626-83745308 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 83740031 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 62 (E62*)

Ref Sequence

ENSEMBL: ENSMUSP00000014891 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006431] [ENSMUST00000014891] [ENSMUST00000206496]

AlphaFold

Q3V0J4

Predicted Effect

probably benign
Transcript: ENSMUST00000006431

SMART Domains

Protein: ENSMUSP00000006431
Gene: ENSMUSG00000006269

Domain	Start	End	E-Value	Type
Pfam:ATP-synt_ab_N	44	110	1.9e-14	PFAM
Pfam:ATP-synt_ab	167	393	9.4e-68	PFAM
Pfam:ATP-synt_ab_C	410	508	6.9e-19	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000014891
AA Change: E62*

SMART Domains

Protein: ENSMUSP00000014891
Gene: ENSMUSG00000014747
AA Change: E62*

Domain	Start	End	E-Value	Type
low complexity region	12	27	N/A	INTRINSIC
ANK	110	140	1.15e0	SMART
ANK	144	177	1.63e0	SMART
ANK	181	210	1.78e-6	SMART
Blast:ANK	215	243	6e-12	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189129

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189308

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190077

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206052

Predicted Effect

probably benign
Transcript: ENSMUST00000206496

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam11	A	G	11: 102,663,682 (GRCm39)	T287A	probably damaging	Het
Afm	G	T	5: 90,696,742 (GRCm39)		probably benign	Het
Ankrd24	A	G	10: 81,465,571 (GRCm39)		probably benign	Het
Atg4b	A	G	1: 93,706,032 (GRCm39)	S162G	probably damaging	Het
B530045E10Rik	A	T	10: 99,258,177 (GRCm39)		noncoding transcript	Het
Ccng1	A	G	11: 40,643,183 (GRCm39)	V88A	probably benign	Het
Ces1e	T	A	8: 93,950,524 (GRCm39)	M86L	probably benign	Het
Chrne	A	T	11: 70,509,498 (GRCm39)		probably null	Het
Ctsh	T	C	9: 89,946,260 (GRCm39)	S109P	probably damaging	Het
Eif4g1	A	C	16: 20,499,790 (GRCm39)	I420L	probably damaging	Het
Ep300	T	A	15: 81,524,224 (GRCm39)	S1351T	unknown	Het
Fgfr1	A	G	8: 26,063,569 (GRCm39)	M732V	possibly damaging	Het
Gata5	T	G	2: 179,969,138 (GRCm39)		probably benign	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm3633	A	T	14: 42,461,234 (GRCm39)	M18K	probably damaging	Het
Gucy1b2	A	G	14: 62,657,595 (GRCm39)	L211P	probably damaging	Het
Hemgn	T	C	4: 46,396,994 (GRCm39)	N81D	possibly damaging	Het
Irs2	A	T	8: 11,056,221 (GRCm39)	M737K	probably damaging	Het
Itgb7	C	A	15: 102,126,430 (GRCm39)	C502F	probably damaging	Het
Jakmip1	G	T	5: 37,278,324 (GRCm39)	A534S	probably damaging	Het
Kidins220	A	G	12: 25,107,728 (GRCm39)	H1636R	probably benign	Het
Kirrel1	T	A	3: 87,003,037 (GRCm39)	I119F	probably damaging	Het
Lrba	T	C	3: 86,217,354 (GRCm39)	V527A	probably damaging	Het
Mitf	A	G	6: 97,994,856 (GRCm39)	E409G	probably benign	Het
Mtrr	T	G	13: 68,720,728 (GRCm39)	K289T	probably damaging	Het
Muc2	A	T	7: 141,306,477 (GRCm39)	I739F	probably damaging	Het
Ncor2	T	C	5: 125,142,934 (GRCm39)	T612A	unknown	Het
Or12e7	T	A	2: 87,287,654 (GRCm39)	N48K	probably damaging	Het
Or1x2	A	T	11: 50,918,202 (GRCm39)	R124S	probably damaging	Het
Or6c213	T	A	10: 129,574,791 (GRCm39)		probably benign	Het
Or8b42	T	A	9: 38,341,594 (GRCm39)	N5K	probably damaging	Het
P4ha3	T	A	7: 99,949,859 (GRCm39)	C109S	probably damaging	Het
Prkd3	T	C	17: 79,264,635 (GRCm39)	E660G	possibly damaging	Het
Rbm4b	G	A	19: 4,812,219 (GRCm39)	M209I	probably benign	Het
Reln	T	A	5: 22,109,715 (GRCm39)	T3132S	probably benign	Het
Selenbp2	T	A	3: 94,605,451 (GRCm39)	D92E	possibly damaging	Het
Slfn8	G	T	11: 82,894,905 (GRCm39)	Q634K	probably benign	Het
Sumo3	A	T	10: 77,449,832 (GRCm39)	I57F	probably benign	Het
Tacr1	A	G	6: 82,533,997 (GRCm39)	Y341C	probably benign	Het
Tlr4	T	A	4: 66,757,726 (GRCm39)	L173Q	probably damaging	Het
Tshz3	C	T	7: 36,469,385 (GRCm39)	T458M	probably damaging	Het
Vmn1r91	T	A	7: 19,835,859 (GRCm39)	C259*	probably null	Het
Vmn2r16	T	C	5: 109,478,277 (GRCm39)	F11L	probably benign	Het
Vmn2r28	T	A	7: 5,484,302 (GRCm39)	M633L	probably benign	Het
Vmn2r35	T	C	7: 7,819,772 (GRCm39)		probably benign	Het
Vwc2l	G	T	1: 70,768,172 (GRCm39)	A79S	probably benign	Het
Zfhx2	G	A	14: 55,301,372 (GRCm39)	S2204F	unknown	Het

Other mutations in Ankrd53

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03186:Ankrd53	APN	6	83,740,695 (GRCm39)	missense	probably benign	0.15
PIT4651001:Ankrd53	UTSW	6	83,742,715 (GRCm39)	missense	probably damaging	1.00
R0420:Ankrd53	UTSW	6	83,740,674 (GRCm39)	missense	probably damaging	1.00
R0662:Ankrd53	UTSW	6	83,740,625 (GRCm39)	missense	probably damaging	1.00
R1978:Ankrd53	UTSW	6	83,740,185 (GRCm39)	missense	probably damaging	1.00
R2313:Ankrd53	UTSW	6	83,740,662 (GRCm39)	missense	probably damaging	1.00
R2483:Ankrd53	UTSW	6	83,740,244 (GRCm39)	missense	possibly damaging	0.52
R3623:Ankrd53	UTSW	6	83,740,244 (GRCm39)	missense	possibly damaging	0.52
R3624:Ankrd53	UTSW	6	83,740,244 (GRCm39)	missense	possibly damaging	0.52
R4550:Ankrd53	UTSW	6	83,742,242 (GRCm39)	missense	probably damaging	1.00
R4836:Ankrd53	UTSW	6	83,745,134 (GRCm39)	missense	probably damaging	1.00
R6144:Ankrd53	UTSW	6	83,739,639 (GRCm39)	unclassified	probably benign
R6875:Ankrd53	UTSW	6	83,745,155 (GRCm39)	missense	probably damaging	1.00
R7143:Ankrd53	UTSW	6	83,739,893 (GRCm39)	missense	possibly damaging	0.93
R7293:Ankrd53	UTSW	6	83,740,178 (GRCm39)	missense	probably null	1.00
R7955:Ankrd53	UTSW	6	83,744,845 (GRCm39)	missense	probably benign	0.11
R9641:Ankrd53	UTSW	6	83,740,692 (GRCm39)	missense	possibly damaging	0.95
Z1177:Ankrd53	UTSW	6	83,742,765 (GRCm39)	missense	possibly damaging	0.93

Posted On

2014-05-07