Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00160:Fam243'

837

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam243

Ensembl Gene

ENSMUSG00000051728

Gene Name

family with sequence similarity 243

Synonyms

4930563D23Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

IGL00160

Quality Score

Status

Chromosome

Chromosomal Location

92115653-92118329 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92117890 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 133 (K133E)

Ref Sequence

ENSEMBL: ENSMUSP00000049694 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062638]

AlphaFold

Q8CDS7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062638
AA Change: K133E

PolyPhen 2 Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	C	T	2: 68,563,219 (GRCm39)	A387V	probably benign	Het
Adamts3	C	T	5: 90,009,184 (GRCm39)	V160I	probably damaging	Het
Arhgef26	T	C	3: 62,247,804 (GRCm39)	V296A	probably benign	Het
Bdp1	A	T	13: 100,197,706 (GRCm39)	M893K	probably benign	Het
Camk2d	T	A	3: 126,631,921 (GRCm39)	C407*	probably null	Het
Ces1h	T	C	8: 94,084,091 (GRCm39)	D373G	probably benign	Het
Ces2f	A	T	8: 105,676,605 (GRCm39)	N100Y	probably damaging	Het
Ces2f	A	T	8: 105,676,604 (GRCm39)	Q99H	probably damaging	Het
Dlg5	T	C	14: 24,241,229 (GRCm39)	T223A	probably damaging	Het
Dnai7	T	A	6: 145,121,016 (GRCm39)	H601L	probably benign	Het
Dnmt3l	A	G	10: 77,893,189 (GRCm39)	D322G	probably damaging	Het
Fbxl20	C	T	11: 97,981,500 (GRCm39)	G396D	possibly damaging	Het
Garre1	G	A	7: 33,938,431 (GRCm39)	H1035Y	possibly damaging	Het
Gldc	T	C	19: 30,092,640 (GRCm39)	T760A	probably damaging	Het
Gm6483	T	A	8: 19,741,663 (GRCm39)		noncoding transcript	Het
Hcrtr2	A	T	9: 76,135,437 (GRCm39)	V460D	possibly damaging	Het
Kif14	G	A	1: 136,396,756 (GRCm39)	S354N	probably benign	Het
Men1	G	A	19: 6,387,237 (GRCm39)		probably null	Het
Mrgpra2a	A	T	7: 47,076,286 (GRCm39)	M324K	probably damaging	Het
N4bp3	C	T	11: 51,536,143 (GRCm39)	A230T	probably benign	Het
Nphs1	T	G	7: 30,181,976 (GRCm39)	W1204G	possibly damaging	Het
Obscn	C	A	11: 58,892,883 (GRCm39)	A6788S	probably benign	Het
Ofcc1	T	C	13: 40,296,280 (GRCm39)	D518G	probably damaging	Het
Optc	T	C	1: 133,829,846 (GRCm39)	Y188C	probably damaging	Het
Prss45	C	A	9: 110,670,073 (GRCm39)	A285E	probably damaging	Het
Rcan2	C	T	17: 44,347,960 (GRCm39)	T223I	possibly damaging	Het
Snrnp70	A	G	7: 45,026,778 (GRCm39)		probably null	Het
Sorbs1	T	A	19: 40,306,473 (GRCm39)	T1064S	probably damaging	Het
Sptb	T	C	12: 76,669,943 (GRCm39)	K462E	probably damaging	Het
Sstr1	A	G	12: 58,259,536 (GRCm39)	E53G	probably benign	Het
Stxbp2	A	T	8: 3,686,354 (GRCm39)		probably null	Het
Tex35	G	A	1: 156,927,326 (GRCm39)		probably benign	Het
Thnsl1	T	C	2: 21,217,260 (GRCm39)	F338S	possibly damaging	Het
Trpv1	C	T	11: 73,151,188 (GRCm39)	A424V	probably damaging	Het
Unc80	A	T	1: 66,693,554 (GRCm39)	H2535L	possibly damaging	Het
Usp46	T	C	5: 74,163,347 (GRCm39)	E333G	probably null	Het
Vmn1r27	T	C	6: 58,192,119 (GRCm39)	Y245C	probably benign	Het
Zfp488	T	C	14: 33,693,026 (GRCm39)	M46V	probably benign	Het
Zfp566	G	T	7: 29,777,936 (GRCm39)	Q82K	probably benign	Het
Znhit6	T	C	3: 145,283,915 (GRCm39)	S62P	probably damaging	Het
Znrf3	T	C	11: 5,239,039 (GRCm39)	H108R	probably damaging	Het

Other mutations in Fam243

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01327:Fam243	APN	16	92,117,661 (GRCm39)	missense	probably benign	0.10
IGL02812:Fam243	APN	16	92,117,616 (GRCm39)	missense	probably damaging	0.98
IGL02981:Fam243	APN	16	92,117,757 (GRCm39)	missense	probably benign	0.05
R0458:Fam243	UTSW	16	92,117,995 (GRCm39)	missense	probably benign	0.00
R0826:Fam243	UTSW	16	92,118,075 (GRCm39)	missense	probably benign	0.05
R1456:Fam243	UTSW	16	92,117,553 (GRCm39)	missense	probably damaging	0.99
R1754:Fam243	UTSW	16	92,117,919 (GRCm39)	missense	probably damaging	0.98
R2568:Fam243	UTSW	16	92,118,207 (GRCm39)	missense	probably damaging	1.00
R5916:Fam243	UTSW	16	92,117,559 (GRCm39)	missense	probably damaging	1.00
R7148:Fam243	UTSW	16	92,117,875 (GRCm39)	missense	probably benign
R7195:Fam243	UTSW	16	92,118,037 (GRCm39)	missense	probably damaging	1.00
R7289:Fam243	UTSW	16	92,117,710 (GRCm39)	missense	probably damaging	1.00
R7638:Fam243	UTSW	16	92,117,805 (GRCm39)	missense	probably damaging	0.99

Posted On

2011-07-12