Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02539:Cfc1'

297663

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cfc1

Ensembl Gene

ENSMUSG00000026124

Gene Name

cryptic, EGF-CFC family member 1

Synonyms

b2b970Clo, cryptic

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.702) question?

Stock #

IGL02539

Quality Score

Status

Chromosome

Chromosomal Location

34574729-34583392 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 34576203 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000027298 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027298]

AlphaFold

P97766

Predicted Effect

probably benign
Transcript: ENSMUST00000027298

SMART Domains

Protein: ENSMUSP00000027298
Gene: ENSMUSG00000026124

Domain	Start	End	E-Value	Type
Blast:EGF	74	123	2e-11	BLAST
SCOP:d1autl1	99	125	2e-5	SMART
Pfam:CFC	131	165	4.7e-17	PFAM
low complexity region	186	195	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189108

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Targeted null mutations of this gene result in left-right laterality defects, including randomization of abdominal situs, asplenia or severe hyposplenia, pulmonary right isomerism, randomized embryo turning and cardiac looping, and postnatal death due tocomplex cardiac malformations. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	A	T	8: 25,276,229 (GRCm39)	Y479*	probably null	Het
Btnl6	T	C	17: 34,727,288 (GRCm39)	N414S	probably benign	Het
Ccdc180	A	G	4: 45,921,005 (GRCm39)	N984D	probably damaging	Het
Chrm1	G	A	19: 8,655,675 (GRCm39)	V127M	probably damaging	Het
Dicer1	A	G	12: 104,663,294 (GRCm39)	L1429P	probably damaging	Het
Erbb3	A	G	10: 128,420,174 (GRCm39)		probably null	Het
Evi5	T	C	5: 107,963,531 (GRCm39)	E348G	probably benign	Het
Fat2	G	A	11: 55,172,619 (GRCm39)	T2698I	probably damaging	Het
Gas2	A	G	7: 51,547,038 (GRCm39)	D63G	possibly damaging	Het
Gm28042	A	G	2: 119,865,702 (GRCm39)	D313G	probably damaging	Het
Hivep2	T	A	10: 14,007,622 (GRCm39)	S1407T	probably damaging	Het
Ibsp	T	A	5: 104,450,149 (GRCm39)	M19K	probably damaging	Het
Itih3	C	T	14: 30,634,621 (GRCm39)	D129N	probably benign	Het
Krtap4-8	A	T	11: 99,671,196 (GRCm39)		probably benign	Het
Mertk	A	G	2: 128,643,210 (GRCm39)	T870A	probably damaging	Het
Mtmr11	C	A	3: 96,072,308 (GRCm39)		probably benign	Het
Nbas	C	A	12: 13,322,704 (GRCm39)		probably benign	Het
Nlrp4b	A	G	7: 10,448,355 (GRCm39)	D186G	probably damaging	Het
Olfm3	A	G	3: 114,895,579 (GRCm39)	I154V	possibly damaging	Het
Or10a5	T	A	7: 106,635,641 (GRCm39)	I93N	probably damaging	Het
Pdk2	T	C	11: 94,923,321 (GRCm39)	K101R	probably benign	Het
Pds5a	C	T	5: 65,823,462 (GRCm39)	D110N	probably damaging	Het
Pex5	A	T	6: 124,380,183 (GRCm39)	D288E	probably benign	Het
Pitrm1	A	G	13: 6,618,792 (GRCm39)	D655G	probably benign	Het
Plcz1	T	C	6: 139,938,690 (GRCm39)	N554S	probably benign	Het
Plin4	T	C	17: 56,413,680 (GRCm39)	Q315R	probably damaging	Het
Plpp5	A	G	8: 26,214,215 (GRCm39)	H244R	probably benign	Het
Ppp1r3a	C	T	6: 14,718,458 (GRCm39)	V819I	probably benign	Het
Rap1b	T	A	10: 117,658,709 (GRCm39)	R41S	possibly damaging	Het
Rc3h2	T	A	2: 37,279,727 (GRCm39)	S501C	probably benign	Het
Sel1l2	G	T	2: 140,072,778 (GRCm39)	A619D	probably damaging	Het
Ska3	T	C	14: 58,057,968 (GRCm39)	D128G	possibly damaging	Het
Specc1l	A	T	10: 75,103,342 (GRCm39)	I889L	probably benign	Het
Ssxb5	T	A	X: 8,675,087 (GRCm39)	N130K	probably damaging	Het
Tanc1	G	T	2: 59,663,602 (GRCm39)	G1120C	probably damaging	Het
Tet1	T	C	10: 62,648,798 (GRCm39)	Q267R	possibly damaging	Het
Tlr8	T	A	X: 166,027,152 (GRCm39)	H566L	possibly damaging	Het
Tmem132d	T	A	5: 127,861,043 (GRCm39)	Q1026L	probably benign	Het
Tmem214	G	A	5: 31,030,090 (GRCm39)	A296T	probably benign	Het
Trp53bp2	C	A	1: 182,276,256 (GRCm39)	P746T	probably damaging	Het
Uso1	A	T	5: 92,335,632 (GRCm39)	I547F	probably damaging	Het
Zfp687	A	C	3: 94,918,373 (GRCm39)	N466K	probably damaging	Het

Other mutations in Cfc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0414:Cfc1	UTSW	1	34,576,409 (GRCm39)	missense	probably damaging	0.97
R0522:Cfc1	UTSW	1	34,576,234 (GRCm39)	missense	probably damaging	1.00
R1620:Cfc1	UTSW	1	34,575,554 (GRCm39)	missense	possibly damaging	0.87
R1739:Cfc1	UTSW	1	34,576,315 (GRCm39)	missense	probably damaging	1.00
R3417:Cfc1	UTSW	1	34,575,457 (GRCm39)	nonsense	probably null
R4440:Cfc1	UTSW	1	34,583,183 (GRCm39)	utr 3 prime	probably benign
R5172:Cfc1	UTSW	1	34,575,011 (GRCm39)	missense	probably benign	0.00
R7139:Cfc1	UTSW	1	34,575,560 (GRCm39)	missense	probably benign	0.00
R9332:Cfc1	UTSW	1	34,576,453 (GRCm39)	missense	probably damaging	1.00
R9618:Cfc1	UTSW	1	34,575,560 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16