Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02962:Ccer1'

365394

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: 0.056) question?

Stock #

IGL02962

Quality Score

Status

Chromosome

Chromosomal Location

97528921-97530785 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97529702 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 122 (S122P)

Ref Sequence

ENSEMBL: ENSMUSP00000050554 (fasta)

Gene Model

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

AlphaFold

Q9CQL2

Predicted Effect

unknown
Transcript: ENSMUST00000060703
AA Change: S122P

SMART Domains

Protein: ENSMUSP00000050554
Gene: ENSMUSG00000047025
AA Change: S122P

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	A	10: 100,446,455 (GRCm39)		probably null	Het
9530068E07Rik	T	C	11: 52,294,362 (GRCm39)	V209A	possibly damaging	Het
Abca3	T	A	17: 24,619,383 (GRCm39)	V907E	probably damaging	Het
Acvrl1	T	C	15: 101,033,382 (GRCm39)	Y90H	probably benign	Het
Aff3	T	C	1: 38,574,737 (GRCm39)	D81G	probably damaging	Het
Amn	G	T	12: 111,240,951 (GRCm39)	V152L	probably damaging	Het
Arhgap44	A	G	11: 64,957,987 (GRCm39)		probably benign	Het
Atad5	T	A	11: 79,999,405 (GRCm39)	V895D	possibly damaging	Het
Card9	T	G	2: 26,248,029 (GRCm39)		probably null	Het
Ccr2	A	G	9: 123,905,712 (GRCm39)		probably benign	Het
Dsg1a	T	A	18: 20,473,381 (GRCm39)	I818N	possibly damaging	Het
Ear10	G	T	14: 44,160,774 (GRCm39)	L18I	probably damaging	Het
Mertk	A	G	2: 128,619,374 (GRCm39)	Y544C	probably damaging	Het
Miga1	A	T	3: 151,990,978 (GRCm39)		probably benign	Het
Myo18a	T	C	11: 77,669,061 (GRCm39)	V307A	probably damaging	Het
Or5p64	A	T	7: 107,854,910 (GRCm39)	I145N	possibly damaging	Het
Or7a38	T	A	10: 78,752,773 (GRCm39)	L33H	probably damaging	Het
Pou2f3	T	C	9: 43,036,384 (GRCm39)		probably benign	Het
Pramel23	T	A	4: 143,423,910 (GRCm39)	E293V	probably benign	Het
Prickle2	A	C	6: 92,353,403 (GRCm39)	S744A	probably benign	Het
Prkcb	T	A	7: 122,024,270 (GRCm39)		probably null	Het
Prkd2	A	G	7: 16,603,757 (GRCm39)	T813A	probably benign	Het
Prkra	G	A	2: 76,463,891 (GRCm39)	T257M	probably damaging	Het
Rbm18	C	T	2: 36,012,886 (GRCm39)	R102Q	probably damaging	Het
Rbsn	A	G	6: 92,167,307 (GRCm39)	S446P	probably benign	Het
Rpgrip1l	A	T	8: 91,996,990 (GRCm39)	V28D	possibly damaging	Het
Sdccag8	A	T	1: 176,775,928 (GRCm39)	K613I	probably damaging	Het
Serbp1	G	A	6: 67,244,103 (GRCm39)	G8D	probably damaging	Het
Slc6a2	T	A	8: 93,699,390 (GRCm39)	Y139*	probably null	Het
Slc7a2	T	A	8: 41,358,621 (GRCm39)	F321L	probably damaging	Het
Slco1b2	G	A	6: 141,594,279 (GRCm39)	S48N	probably damaging	Het
Ssbp2	G	T	13: 91,790,490 (GRCm39)	V118L	possibly damaging	Het
Sugp1	T	A	8: 70,512,512 (GRCm39)		probably benign	Het
Taar5	C	A	10: 23,846,883 (GRCm39)	R94S	possibly damaging	Het
Tgs1	G	T	4: 3,586,181 (GRCm39)	A353S	probably benign	Het
Trav1	A	G	14: 52,666,099 (GRCm39)	E32G	probably damaging	Het
Trp53bp2	T	C	1: 182,259,160 (GRCm39)	V71A	probably benign	Het
Vmn2r50	T	C	7: 9,784,252 (GRCm39)	Y74C	probably damaging	Het
Wars1	A	T	12: 108,841,706 (GRCm39)	M147K	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
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

2015-12-18