Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02030:Ccer1'

184338

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccer1

Ensembl Gene

ENSMUSG00000047025

Gene Name

coiled-coil glutamate-rich protein 1

Synonyms

4921510H08Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

IGL02030

Quality Score

Status

Chromosome

Chromosomal Location

97528921-97530785 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 97529472 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 45 (Y45C)

Ref Sequence

ENSEMBL: ENSMUSP00000050554 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060703]

AlphaFold

Q9CQL2

Predicted Effect

unknown
Transcript: ENSMUST00000060703
AA Change: Y45C

SMART Domains

Protein: ENSMUSP00000050554
Gene: ENSMUSG00000047025
AA Change: Y45C

Domain	Start	End	E-Value	Type
Pfam:CCER1	4	218	5.9e-123	PFAM
coiled coil region	292	323	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220233

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	T	C	8: 44,021,894 (GRCm39)	D532G	probably benign	Het
Adam29	C	T	8: 56,325,157 (GRCm39)	M432I	probably benign	Het
Cbs	A	G	17: 31,844,463 (GRCm39)		probably null	Het
Clu	G	A	14: 66,213,240 (GRCm39)	G209S	probably benign	Het
Ddx17	T	C	15: 79,414,577 (GRCm39)	D530G	probably benign	Het
Ddx4	T	C	13: 112,761,311 (GRCm39)		probably benign	Het
Fry	C	T	5: 150,395,083 (GRCm39)		probably benign	Het
Fut10	C	T	8: 31,726,006 (GRCm39)	Q254*	probably null	Het
Gucy2e	A	G	11: 69,114,642 (GRCm39)	F1002S	probably damaging	Het
Hsd3b6	T	C	3: 98,713,489 (GRCm39)	Y270C	probably benign	Het
Jup	A	G	11: 100,267,817 (GRCm39)	I502T	probably damaging	Het
Lrrc71	T	A	3: 87,652,531 (GRCm39)		probably null	Het
Mei1	T	C	15: 81,999,944 (GRCm39)	V1127A	probably benign	Het
Ncstn	A	T	1: 171,900,024 (GRCm39)		probably benign	Het
Nin	T	C	12: 70,092,042 (GRCm39)	R756G	probably damaging	Het
Notch2	C	A	3: 98,006,737 (GRCm39)		probably null	Het
Oacyl	T	C	18: 65,870,981 (GRCm39)	V394A	probably damaging	Het
Or1j19	A	G	2: 36,677,410 (GRCm39)	Y291C	probably damaging	Het
Or5b21	T	C	19: 12,839,799 (GRCm39)	F220S	probably benign	Het
Or6b13	A	G	7: 139,782,545 (GRCm39)	I46T	probably damaging	Het
Parn	A	G	16: 13,482,514 (GRCm39)		probably null	Het
Rspo3	T	G	10: 29,376,044 (GRCm39)	E173A	probably damaging	Het
Rusc2	T	A	4: 43,416,095 (GRCm39)	V467E	possibly damaging	Het
Sema7a	G	A	9: 57,862,423 (GRCm39)	E209K	possibly damaging	Het
Uchl4	T	C	9: 64,142,911 (GRCm39)	S131P	probably benign	Het
Usp54	T	C	14: 20,616,014 (GRCm39)	I769V	probably benign	Het
Xirp2	T	C	2: 67,339,325 (GRCm39)	M522T	probably benign	Het

Other mutations in Ccer1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01133:Ccer1	APN	10	97,530,401 (GRCm39)	missense	probably benign	0.18
IGL01434:Ccer1	APN	10	97,529,459 (GRCm39)	missense	unknown
IGL01895:Ccer1	APN	10	97,529,912 (GRCm39)	missense	unknown
IGL02962:Ccer1	APN	10	97,529,702 (GRCm39)	missense	unknown
IGL03352:Ccer1	APN	10	97,529,439 (GRCm39)	missense	unknown
R1083:Ccer1	UTSW	10	97,530,520 (GRCm39)	missense	possibly damaging	0.70
R1911:Ccer1	UTSW	10	97,530,539 (GRCm39)	missense	possibly damaging	0.53
R3769:Ccer1	UTSW	10	97,530,414 (GRCm39)	missense	probably damaging	1.00
R4364:Ccer1	UTSW	10	97,530,232 (GRCm39)	small deletion	probably benign
R5737:Ccer1	UTSW	10	97,530,546 (GRCm39)	missense	possibly damaging	0.53
R7154:Ccer1	UTSW	10	97,530,201 (GRCm39)	missense	unknown
R7173:Ccer1	UTSW	10	97,529,217 (GRCm39)	start gained	probably benign
R7413:Ccer1	UTSW	10	97,529,804 (GRCm39)	missense	unknown

Posted On

2014-05-07