Mutagenetix > Incidental Mutation

Incidental Mutation 'R1083:Ccer1'

84932

Institutional Source

Beutler Lab

Gene Symbol

Ccer1

Ensembl Gene

ENSMUSG00000047025

Gene Name

coiled-coil glutamate-rich protein 1

Synonyms

4921510H08Rik

MMRRC Submission

039169-MU

Accession Numbers

Essential gene?

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

Stock #

R1083 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97528921-97530785 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 97530520 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 394 (D394E)

Ref Sequence

ENSEMBL: ENSMUSP00000050554 (fasta)

Gene Model

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

AlphaFold

Q9CQL2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060703
AA Change: D394E

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000050554
Gene: ENSMUSG00000047025
AA Change: D394E

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 94.0%

Validation Efficiency

100% (38/38)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730049H05Rik	T	C	6: 92,805,046 (GRCm39)		probably benign	Het
Adamts17	G	A	7: 66,797,322 (GRCm39)	C986Y	probably damaging	Het
AI987944	A	G	7: 41,024,763 (GRCm39)	V75A	probably benign	Het
Arhgap10	T	C	8: 78,244,378 (GRCm39)	Y12C	probably damaging	Het
Atp11b	G	A	3: 35,832,162 (GRCm39)		probably benign	Het
Cdh2	T	C	18: 16,777,016 (GRCm39)	N273S	possibly damaging	Het
Cfap65	G	T	1: 74,957,663 (GRCm39)		probably benign	Het
Crybb3	A	T	5: 113,228,444 (GRCm39)		probably benign	Het
D7Ertd443e	G	A	7: 133,950,663 (GRCm39)	Q337*	probably null	Het
Dixdc1	C	T	9: 50,588,293 (GRCm39)		probably benign	Het
Dut	GCGGC	GCGGCCGGC	2: 125,089,748 (GRCm39)		probably null	Het
Fbxo2	A	G	4: 148,250,234 (GRCm39)		probably null	Het
Gm5174	T	C	10: 86,491,972 (GRCm39)		noncoding transcript	Het
Gpam	A	G	19: 55,076,643 (GRCm39)		probably benign	Het
Il12a	C	T	3: 68,602,666 (GRCm39)	T112M	probably damaging	Het
Itpr1	T	A	6: 108,487,657 (GRCm39)	V2361D	possibly damaging	Het
Jag1	G	A	2: 136,938,152 (GRCm39)	L283F	probably damaging	Het
Lamb2	A	C	9: 108,360,892 (GRCm39)	D538A	probably benign	Het
Map10	T	A	8: 126,397,178 (GRCm39)	C190*	probably null	Het
Pcnx2	C	T	8: 126,498,843 (GRCm39)	R1552H	probably damaging	Het
Phf1	T	C	17: 27,156,244 (GRCm39)		probably benign	Het
Pitx2	A	G	3: 129,012,418 (GRCm39)	T276A	probably damaging	Het
Pparg	A	G	6: 115,467,107 (GRCm39)	D490G	probably damaging	Het
Rnf10	A	T	5: 115,398,163 (GRCm39)		probably benign	Het
Sbp	T	C	17: 24,161,704 (GRCm39)		probably benign	Het
Setbp1	A	T	18: 78,900,841 (GRCm39)	L942H	probably damaging	Het
Sf3b1	C	G	1: 55,058,554 (GRCm39)	E12Q	possibly damaging	Het
Sfmbt1	A	T	14: 30,509,498 (GRCm39)	N326Y	possibly damaging	Het
Slx4	G	A	16: 3,808,774 (GRCm39)	Q389*	probably null	Het
Srrm3	T	A	5: 135,883,263 (GRCm39)	V206E	probably damaging	Het
Sspo	T	A	6: 48,447,933 (GRCm39)	D2270E	possibly damaging	Het
Sulf1	AAGGGA	AAGGGAGGGA	1: 12,906,388 (GRCm39)		probably null	Het
Vmn1r14	T	A	6: 57,211,184 (GRCm39)	I210N	probably damaging	Het
Wasf3	T	G	5: 146,372,182 (GRCm39)	L13R	probably damaging	Het
Yes1	T	C	5: 32,809,101 (GRCm39)		probably null	Het
Zfp292	T	C	4: 34,807,569 (GRCm39)	D1830G	probably damaging	Het
Zfp541	A	G	7: 15,812,637 (GRCm39)	N430S	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGCTCTAATGCAGCACAACCAGTC -3'
(R):5'- TCTGTGGATTTCAAGCTCAGAAACCTG -3'

Sequencing Primer
(F):5'- aggaggaggaggaggagg -3'
(R):5'- AGCTCAGAAACCTGCTGTG -3'

Posted On

2013-11-18