Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01895:Ccer1'

179379

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 #

IGL01895

Quality Score

Status

Chromosome

Chromosomal Location

97528921-97530785 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 97529912 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 192 (I192F)

Ref Sequence

ENSEMBL: ENSMUSP00000050554 (fasta)

Gene Model

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

AlphaFold

Q9CQL2

Predicted Effect

unknown
Transcript: ENSMUST00000060703
AA Change: I192F

SMART Domains

Protein: ENSMUSP00000050554
Gene: ENSMUSG00000047025
AA Change: I192F

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	A	T	7: 45,678,482 (GRCm39)	I56N	possibly damaging	Het
Akr1c13	A	T	13: 4,255,372 (GRCm39)	E321V	possibly damaging	Het
Atp8b3	A	T	10: 80,357,662 (GRCm39)	V1119D	possibly damaging	Het
Cacna1e	G	T	1: 154,319,646 (GRCm39)	F1351L	probably damaging	Het
Cadps2	A	G	6: 23,427,274 (GRCm39)	W585R	probably damaging	Het
Ccdc113	C	T	8: 96,263,086 (GRCm39)		probably benign	Het
Chd8	T	C	14: 52,436,551 (GRCm39)	N90S	probably benign	Het
Clca3a1	A	T	3: 144,453,333 (GRCm39)	C463*	probably null	Het
Cplane1	T	A	15: 8,258,591 (GRCm39)	V2279E	possibly damaging	Het
Cyp2c65	T	A	19: 39,060,676 (GRCm39)	C179S	possibly damaging	Het
Dennd4b	A	G	3: 90,182,874 (GRCm39)	Q35R	probably benign	Het
Enpep	T	C	3: 129,063,983 (GRCm39)	E928G	possibly damaging	Het
Fem1c	T	C	18: 46,638,629 (GRCm39)	T458A	probably benign	Het
Fezf2	A	T	14: 12,342,498 (GRCm38)	*456R	probably null	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Iqcm	T	G	8: 76,615,188 (GRCm39)	L423R	probably damaging	Het
Kcnc4	C	A	3: 107,355,534 (GRCm39)	V305L	probably benign	Het
Kif1a	G	A	1: 92,953,455 (GRCm39)	T1337I	possibly damaging	Het
Lpxn	A	G	19: 12,810,450 (GRCm39)	D298G	probably damaging	Het
Lypd8	A	G	11: 58,281,046 (GRCm39)	T203A	possibly damaging	Het
Mrps28	C	T	3: 8,965,119 (GRCm39)	V107M	probably damaging	Het
Myo15b	A	G	11: 115,774,324 (GRCm39)	E586G	possibly damaging	Het
Pdzk1	C	T	3: 96,776,417 (GRCm39)	A459V	possibly damaging	Het
Rbpj	A	G	5: 53,808,728 (GRCm39)	D285G	probably damaging	Het
Rimbp3	T	C	16: 17,029,300 (GRCm39)	L908P	probably damaging	Het
Samd4b	T	C	7: 28,101,334 (GRCm39)		probably null	Het
Slc28a2b	A	C	2: 122,355,572 (GRCm39)	Y588S	possibly damaging	Het
Stau2	C	T	1: 16,416,161 (GRCm39)	G401S	probably damaging	Het
Trpa1	A	T	1: 14,957,867 (GRCm39)	I697K	possibly damaging	Het
Ttc17	A	C	2: 94,205,491 (GRCm39)	V285G	possibly damaging	Het
Unc5b	A	G	10: 60,602,864 (GRCm39)	F845S	probably damaging	Het
Vmn1r19	A	T	6: 57,382,245 (GRCm39)	Q266L	probably benign	Het
Vmn2r106	T	C	17: 20,499,227 (GRCm39)	N228S	probably benign	Het
Vps13d	A	G	4: 144,882,836 (GRCm39)	F919S	possibly damaging	Het
Zbtb38	C	T	9: 96,570,461 (GRCm39)	V208I	probably benign	Het
Zfp990	A	T	4: 145,263,427 (GRCm39)	T142S	probably damaging	Het
Zfp990	C	A	4: 145,263,428 (GRCm39)	T142N	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
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
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