Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01153:Fam120c'

53372

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam120c

Ensembl Gene

ENSMUSG00000025262

Gene Name

family with sequence similarity 120, member C

Synonyms

D930001I21Rik, orf34

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.238) question?

Stock #

IGL01153

Quality Score

Status

Chromosome

Chromosomal Location

150127171-150254838 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 150182801 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000073082 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073364]

AlphaFold

Q8C3F2

Predicted Effect

probably null
Transcript: ENSMUST00000073364

SMART Domains

Protein: ENSMUSP00000073082
Gene: ENSMUSG00000025262

Domain	Start	End	E-Value	Type
low complexity region	32	53	N/A	INTRINSIC
low complexity region	60	71	N/A	INTRINSIC
low complexity region	77	112	N/A	INTRINSIC
low complexity region	418	430	N/A	INTRINSIC
low complexity region	510	526	N/A	INTRINSIC
low complexity region	965	976	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125924

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a potential transmembrane protein and lies in a region where mutations and deletions have been associated with intellectual disability and autism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
PHENOTYPE: Male chimeras hemizygous for a gene trapped allele appear phenotypically normal at E9.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	C	13: 81,567,247 (GRCm39)	I5309V	probably benign	Het
Amy1	A	G	3: 113,349,724 (GRCm39)	V482A	possibly damaging	Het
Ankrd22	A	T	19: 34,106,229 (GRCm39)	V81E	probably damaging	Het
Ccr5	C	A	9: 123,924,649 (GRCm39)	T84K	probably damaging	Het
Cfap206	C	T	4: 34,721,562 (GRCm39)	S162N	probably damaging	Het
Chchd3	A	T	6: 32,985,502 (GRCm39)		probably benign	Het
Cpt1c	C	T	7: 44,616,092 (GRCm39)	E307K	probably damaging	Het
Cyth2	T	C	7: 45,457,813 (GRCm39)	Y120C	probably damaging	Het
Dnajb11	T	A	16: 22,681,430 (GRCm39)	D69E	probably benign	Het
Ece2	T	A	16: 20,451,544 (GRCm39)	M215K	possibly damaging	Het
Enox2	C	A	X: 48,151,015 (GRCm39)		probably null	Het
Fam149b	A	G	14: 20,427,949 (GRCm39)	T319A	possibly damaging	Het
Fndc1	A	T	17: 7,998,874 (GRCm39)		probably null	Het
Gcsh	T	A	8: 117,710,549 (GRCm39)	D138V	probably benign	Het
Herc3	T	A	6: 58,837,321 (GRCm39)	H331Q	probably benign	Het
Iars1	A	G	13: 49,865,281 (GRCm39)	N586D	probably damaging	Het
Idh3g	A	G	X: 72,823,668 (GRCm39)	V280A	probably damaging	Het
Kctd18	A	G	1: 58,004,550 (GRCm39)	S115P	probably damaging	Het
Lims2	A	G	18: 32,090,370 (GRCm39)		probably null	Het
Lyset	T	A	12: 102,711,135 (GRCm39)	Y119*	probably null	Het
Mael	T	C	1: 166,029,919 (GRCm39)	K334E	possibly damaging	Het
Me3	A	C	7: 89,498,844 (GRCm39)	T475P	probably damaging	Het
Mrpl18	A	G	17: 13,134,693 (GRCm39)	L24P	possibly damaging	Het
Nol4	C	A	18: 22,902,850 (GRCm39)	R460L	probably damaging	Het
Numa1	A	T	7: 101,643,951 (GRCm39)	E181V	probably damaging	Het
Or6c2	T	A	10: 129,362,864 (GRCm39)	I256N	probably damaging	Het
Pex2	A	T	3: 5,626,424 (GRCm39)	H128Q	probably benign	Het
Pex3	A	T	10: 13,428,597 (GRCm39)		probably null	Het
Psmb8	A	G	17: 34,420,215 (GRCm39)	Y269C	possibly damaging	Het
Sh2d3c	A	G	2: 32,615,096 (GRCm39)	K62R	probably benign	Het
Strn4	G	A	7: 16,571,846 (GRCm39)	G613D	probably damaging	Het
Taok2	A	G	7: 126,470,204 (GRCm39)	W875R	probably damaging	Het
Tbc1d4	T	C	14: 101,845,451 (GRCm39)	D149G	possibly damaging	Het
Zfp473	A	G	7: 44,383,992 (GRCm39)	S113P	probably damaging	Het
Zfp768	A	G	7: 126,943,703 (GRCm39)	Y145H	possibly damaging	Het
Zgrf1	G	A	3: 127,396,055 (GRCm39)	G534R	probably damaging	Het

Other mutations in Fam120c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01060:Fam120c	APN	X	150,252,583 (GRCm39)	missense	probably benign
R0096:Fam120c	UTSW	X	150,127,341 (GRCm39)	small deletion	probably benign
R4579:Fam120c	UTSW	X	150,219,179 (GRCm39)	missense	probably damaging	1.00
R9211:Fam120c	UTSW	X	150,127,495 (GRCm39)	missense	probably benign	0.02

Posted On

2013-06-21