Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01060:Fam120c'

53313

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: 0.204) question?

Stock #

IGL01060

Quality Score

Status

Chromosome

Chromosomal Location

150127171-150254838 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 150252583 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 1045 (P1045S)

Ref Sequence

ENSEMBL: ENSMUSP00000073082 (fasta)

Gene Model

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

AlphaFold

Q8C3F2

Predicted Effect

probably benign
Transcript: ENSMUST00000073364
AA Change: P1045S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000073082
Gene: ENSMUSG00000025262
AA Change: P1045S

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,834,475 (GRCm39)	V124I	probably damaging	Het
Anks4b	A	G	7: 119,773,148 (GRCm39)	T3A	possibly damaging	Het
Arhgef26	T	A	3: 62,247,542 (GRCm39)	S209T	probably benign	Het
Ccdc78	A	G	17: 26,007,806 (GRCm39)	D281G	probably damaging	Het
Ccnb3	A	T	X: 6,846,513 (GRCm39)	N1362K	probably benign	Het
Dnah2	T	C	11: 69,368,918 (GRCm39)	N1662S	possibly damaging	Het
Elp1	C	T	4: 56,784,537 (GRCm39)		probably null	Het
Ern2	T	A	7: 121,769,315 (GRCm39)	R904W	probably damaging	Het
Gm12887	C	T	4: 121,473,610 (GRCm39)		probably benign	Het
Gpld1	G	A	13: 25,166,549 (GRCm39)	G627S	probably damaging	Het
Krt77	T	A	15: 101,769,315 (GRCm39)		probably benign	Het
Ltf	A	T	9: 110,851,950 (GRCm39)		probably null	Het
Map3k6	G	T	4: 132,974,613 (GRCm39)		probably null	Het
Nsd1	G	A	13: 55,411,242 (GRCm39)	G1431D	probably damaging	Het
Plekhm2	C	T	4: 141,369,956 (GRCm39)		probably null	Het
Popdc2	T	A	16: 38,194,327 (GRCm39)	N249K	probably damaging	Het
Ppm1h	A	G	10: 122,743,476 (GRCm39)	D400G	possibly damaging	Het
Rps6ka1	A	T	4: 133,588,181 (GRCm39)	S320T	probably damaging	Het
Rsph6a	C	T	7: 18,788,793 (GRCm39)	R42*	probably null	Het
Sap130	T	C	18: 31,848,496 (GRCm39)	L967P	probably damaging	Het
Smyd2	T	C	1: 189,629,667 (GRCm39)	E121G	possibly damaging	Het
Sspo	G	A	6: 48,426,413 (GRCm39)	W144*	probably null	Het
Taar6	A	G	10: 23,860,970 (GRCm39)	V192A	probably benign	Het
Tbc1d24	A	T	17: 24,404,802 (GRCm39)	V114E	probably damaging	Het
Trim16	T	C	11: 62,711,530 (GRCm39)	I67T	probably benign	Het
Ttll7	A	G	3: 146,615,337 (GRCm39)	D267G	possibly damaging	Het
Ttn	T	C	2: 76,720,073 (GRCm39)		probably benign	Het
Vmn2r56	T	A	7: 12,447,016 (GRCm39)	I379F	probably damaging	Het
Zfp14	T	C	7: 29,737,510 (GRCm39)	T492A	probably damaging	Het

Other mutations in Fam120c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01153:Fam120c	APN	X	150,182,801 (GRCm39)	critical splice donor site	probably null
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