Mutagenetix > Incidental Mutation

Incidental Mutation 'R4364:Ccer1'

325676

Institutional Source

Beutler Lab

Gene Symbol

Ccer1

Ensembl Gene

ENSMUSG00000047025

Gene Name

coiled-coil glutamate-rich protein 1

Synonyms

4921510H08Rik

MMRRC Submission

041672-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R4364 (G1)

Quality Score

121

Status

Not validated

Chromosome

Chromosomal Location

97528921-97530785 bp(+) (GRCm39)

Type of Mutation

small deletion (1 aa in frame mutation)

DNA Base Change (assembly)

CGAGGAGGAGGAGGAGGAGGA to CGAGGAGGAGGAGGAGGA at 97530232 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000050554 (fasta)

Gene Model

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

AlphaFold

Q9CQL2

Predicted Effect

probably benign
Transcript: ENSMUST00000060703

SMART Domains

Protein: ENSMUSP00000050554
Gene: ENSMUSG00000047025

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

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

93% (40/43)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amn	A	C	12: 111,238,196 (GRCm39)	N37H	probably damaging	Het
Apoa5	A	T	9: 46,181,827 (GRCm39)	D301V	probably damaging	Het
Atrn	A	G	2: 130,812,128 (GRCm39)	E691G	probably benign	Het
Cct2	A	G	10: 116,891,056 (GRCm39)	V396A	probably damaging	Het
Dhx35	C	T	2: 158,684,272 (GRCm39)	Q516*	probably null	Het
Dop1b	A	G	16: 93,567,812 (GRCm39)	K1413R	probably benign	Het
Dpp9	T	C	17: 56,494,391 (GRCm39)	H856R	possibly damaging	Het
Eif4e2	T	C	1: 87,152,093 (GRCm39)	F97L	probably benign	Het
Exoc6b	A	T	6: 84,980,161 (GRCm39)		probably benign	Het
Fat1	T	A	8: 45,405,999 (GRCm39)	S917T	probably benign	Het
Frem1	A	T	4: 82,831,488 (GRCm39)	Y2043N	probably damaging	Het
Galnt14	A	G	17: 73,819,154 (GRCm39)	I312T	probably damaging	Het
Glipr1	T	C	10: 111,821,542 (GRCm39)	N220S	possibly damaging	Het
Grid1	A	G	14: 34,667,989 (GRCm39)	E172G	probably benign	Het
Hspa4l	C	A	3: 40,721,241 (GRCm39)		probably null	Het
Il1rl2	G	T	1: 40,390,951 (GRCm39)	R298L	probably benign	Het
Il7r	T	A	15: 9,513,014 (GRCm39)	H165L	probably damaging	Het
Krt87	T	G	15: 101,385,395 (GRCm39)	M326L	probably benign	Het
Lcn10	G	T	2: 25,574,052 (GRCm39)	C85F	probably damaging	Het
Mideas	C	T	12: 84,203,245 (GRCm39)	G886S	probably benign	Het
Nup205	C	A	6: 35,168,962 (GRCm39)	P397Q	probably benign	Het
Or4d10	A	G	19: 12,051,861 (GRCm39)	V45A	probably benign	Het
Or4f17-ps1	G	A	2: 111,357,985 (GRCm39)	V127M	probably benign	Het
Or8b12c	A	T	9: 37,715,486 (GRCm39)	H93L	probably benign	Het
Prkce	C	T	17: 86,784,279 (GRCm39)	T218I	probably damaging	Het
Rhbdl2	T	A	4: 123,703,728 (GRCm39)	M1K	probably null	Het
Ripor2	C	T	13: 24,905,694 (GRCm39)	P947S	probably benign	Het
Shoc1	T	G	4: 59,082,294 (GRCm39)	T445P	possibly damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Sptbn5	A	G	2: 119,899,136 (GRCm39)	L428P	probably damaging	Het
Syne1	A	G	10: 5,303,987 (GRCm39)	V789A	probably damaging	Het
Taar8c	C	T	10: 23,977,477 (GRCm39)	V112M	probably benign	Het
Tex10	T	C	4: 48,468,774 (GRCm39)	I51V	probably benign	Het
Ttll1	T	A	15: 83,384,195 (GRCm39)	Q144L	probably damaging	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
IGL02030:Ccer1	APN	10	97,529,472 (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
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

Predicted Primers

PCR Primer
(F):5'- GACTCCACTACCAATGATGCG -3'
(R):5'- AAGGCATTCCCAGAGGCAAG -3'

Sequencing Primer
(F):5'- CAGCGGCGTCGAAGAAGATTC -3'
(R):5'- GCATTCCCAGAGGCAAGAATTTTTC -3'

Posted On

2015-07-06