Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02981:Fam243'

406541

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: 0.065) question?

Stock #

IGL02981

Quality Score

Status

Chromosome

Chromosomal Location

92115653-92118329 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92117757 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 177 (N177S)

Ref Sequence

ENSEMBL: ENSMUSP00000049694 (fasta)

Gene Model

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

AlphaFold

Q8CDS7

Predicted Effect

probably benign
Transcript: ENSMUST00000062638
AA Change: N177S

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12	A	G	2: 150,675,044 (GRCm39)	S392P	probably benign	Het
Adam23	G	A	1: 63,610,112 (GRCm39)	V705I	probably damaging	Het
Ank2	T	G	3: 126,728,211 (GRCm39)	D794A	possibly damaging	Het
Ank2	C	A	3: 126,749,519 (GRCm39)	E503D	probably damaging	Het
Aqr	T	C	2: 113,965,305 (GRCm39)		probably benign	Het
Atp9b	A	G	18: 80,797,504 (GRCm39)	V857A	possibly damaging	Het
Banp	T	C	8: 122,705,303 (GRCm39)	Y58H	possibly damaging	Het
Cacna1e	T	A	1: 154,347,171 (GRCm39)	N999Y	probably benign	Het
Cd14	T	C	18: 36,859,532 (GRCm39)		probably benign	Het
Crmp1	T	C	5: 37,443,770 (GRCm39)	I447T	probably damaging	Het
Dip2a	A	G	10: 76,112,255 (GRCm39)	V1090A	possibly damaging	Het
Ep400	T	A	5: 110,903,969 (GRCm39)	H210L	possibly damaging	Het
Ep400	T	A	5: 110,839,476 (GRCm39)		probably benign	Het
Fbxw26	A	G	9: 109,573,862 (GRCm39)	F97L	probably benign	Het
Fut8	C	A	12: 77,521,812 (GRCm39)	P484T	probably damaging	Het
Golph3	A	G	15: 12,349,550 (GRCm39)	E190G	probably benign	Het
Hectd1	A	T	12: 51,815,670 (GRCm39)	D1472E	possibly damaging	Het
Hnrnpdl	T	C	5: 100,184,958 (GRCm39)	I298V	possibly damaging	Het
Jakmip2	C	A	18: 43,695,595 (GRCm39)		probably null	Het
Kcnj5	G	A	9: 32,233,877 (GRCm39)	T146I	probably damaging	Het
Lyst	T	G	13: 13,809,496 (GRCm39)	F389V	probably damaging	Het
Myo1b	A	G	1: 51,817,532 (GRCm39)	S577P	probably damaging	Het
Myo3b	T	C	2: 69,938,969 (GRCm39)	V114A	probably damaging	Het
Or10a2	C	A	7: 106,673,758 (GRCm39)	T241N	probably damaging	Het
Pappa2	C	T	1: 158,678,714 (GRCm39)	G901R	probably benign	Het
Patz1	T	C	11: 3,240,656 (GRCm39)	Y15H	probably damaging	Het
Pdp2	T	C	8: 105,320,267 (GRCm39)	W39R	probably benign	Het
Poc5	T	C	13: 96,538,265 (GRCm39)		probably null	Het
Pou3f1	A	G	4: 124,552,236 (GRCm39)	D246G	probably damaging	Het
Pramel5	T	A	4: 143,999,430 (GRCm39)	Y219F	probably benign	Het
Prrc2c	C	T	1: 162,532,748 (GRCm39)		probably benign	Het
Ptpn13	A	G	5: 103,676,670 (GRCm39)	K678E	probably damaging	Het
Rps2	T	C	17: 24,940,698 (GRCm39)	F271L	probably benign	Het
Serpina3k	C	A	12: 104,307,250 (GRCm39)	Q161K	probably benign	Het
Serpinb6b	A	G	13: 33,155,589 (GRCm39)	T101A	probably benign	Het
Tprkb	T	A	6: 85,904,861 (GRCm39)	D112E	probably benign	Het
Tubal3	A	G	13: 3,983,257 (GRCm39)	T346A	probably benign	Het
Vwde	A	G	6: 13,193,112 (GRCm39)	F409S	possibly damaging	Het
Zbtb6	G	A	2: 37,319,176 (GRCm39)	Q251*	probably null	Het

Other mutations in Fam243

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:Fam243	APN	16	92,117,890 (GRCm39)	missense	possibly damaging	0.47
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
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

2016-08-02