Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00486:Ccser2'

5889

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccser2

Ensembl Gene

ENSMUSG00000058690

Gene Name

coiled-coil serine rich 2

Synonyms

1700012P13Rik, 2900054P12Rik, Gcap14

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.216) question?

Stock #

IGL00486

Quality Score

Status

Chromosome

Chromosomal Location

36874936-36968777 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36940064 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 388 (Y388H)

Ref Sequence

ENSEMBL: ENSMUSP00000087478 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067700] [ENSMUST00000090024] [ENSMUST00000183038]

Predicted Effect

probably damaging
Transcript: ENSMUST00000067700
AA Change: Y388H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000068550
Gene: ENSMUSG00000058690
AA Change: Y388H

Domain	Start	End	E-Value	Type
low complexity region	50	63	N/A	INTRINSIC
low complexity region	124	135	N/A	INTRINSIC
coiled coil region	157	194	N/A	INTRINSIC
low complexity region	221	234	N/A	INTRINSIC
low complexity region	331	342	N/A	INTRINSIC
low complexity region	365	385	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000090024
AA Change: Y388H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000087478
Gene: ENSMUSG00000058690
AA Change: Y388H

Domain	Start	End	E-Value	Type
low complexity region	389	412	N/A	INTRINSIC
low complexity region	496	506	N/A	INTRINSIC
low complexity region	543	562	N/A	INTRINSIC
low complexity region	603	616	N/A	INTRINSIC
low complexity region	677	688	N/A	INTRINSIC
coiled coil region	710	747	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182635

Predicted Effect

probably benign
Transcript: ENSMUST00000183038

SMART Domains

Protein: ENSMUSP00000138718
Gene: ENSMUSG00000058690

Domain	Start	End	E-Value	Type
low complexity region	50	63	N/A	INTRINSIC
low complexity region	124	135	N/A	INTRINSIC
coiled coil region	157	194	N/A	INTRINSIC
low complexity region	221	234	N/A	INTRINSIC
low complexity region	331	342	N/A	INTRINSIC
low complexity region	365	385	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 120,246,853	T576A	probably damaging	Het
As3mt	A	G	19: 46,720,425	E286G	probably benign	Het
Baiap3	G	T	17: 25,248,377		probably benign	Het
C1qc	T	C	4: 136,890,134	E217G	probably damaging	Het
Clcn7	C	A	17: 25,151,123	A328D	probably damaging	Het
Clstn1	G	A	4: 149,635,243	R415Q	probably damaging	Het
Hcn4	T	C	9: 58,860,053	S966P	unknown	Het
Heph	A	T	X: 96,527,678	D748V	probably damaging	Het
Herc1	C	T	9: 66,476,120	T3691I	probably benign	Het
Hsd17b14	A	G	7: 45,566,713	T236A	possibly damaging	Het
Kif28	C	A	1: 179,702,516	L693F	probably damaging	Het
Mnd1	T	C	3: 84,138,198	E33G	possibly damaging	Het
Nbas	T	G	12: 13,453,075	D1520E	probably benign	Het
Poli	C	T	18: 70,525,490	G81R	probably damaging	Het
Pou6f2	G	A	13: 18,139,585	S401F	probably damaging	Het
Ppp1r3c	G	A	19: 36,733,924	R149W	probably damaging	Het
Ptprc	C	A	1: 138,115,621	C64F	probably damaging	Het
Ptprz1	T	C	6: 22,973,054	Y274H	probably damaging	Het
Ranbp2	T	A	10: 58,477,612	L1385I	probably benign	Het
Sgms1	A	T	19: 32,159,625	F180L	probably damaging	Het
Slc7a9	T	A	7: 35,460,887	M396K	probably damaging	Het
Syt17	T	C	7: 118,434,290	D165G	probably damaging	Het
Tnxb	T	C	17: 34,692,382	L1553P	probably damaging	Het
Trim31	C	A	17: 36,909,241	Q350K	probably benign	Het
Wnk3	A	G	X: 151,233,029	R494G	probably damaging	Het
Zmym6	A	G	4: 127,124,185		probably benign	Het

Other mutations in Ccser2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01285:Ccser2	APN	14	36938669	missense	probably damaging	1.00
IGL01622:Ccser2	APN	14	36940963	missense	probably benign	0.03
IGL01623:Ccser2	APN	14	36940963	missense	probably benign	0.03
IGL02322:Ccser2	APN	14	36909129	missense	probably damaging	1.00
IGL02342:Ccser2	APN	14	36918605	splice site	probably benign
IGL02899:Ccser2	APN	14	36940759	missense	probably benign	0.39
R0433:Ccser2	UTSW	14	36918529	missense	probably damaging	1.00
R0543:Ccser2	UTSW	14	36940192	missense	probably benign
R0674:Ccser2	UTSW	14	36918591	missense	possibly damaging	0.94
R0853:Ccser2	UTSW	14	36940410	missense	probably benign	0.18
R0964:Ccser2	UTSW	14	36909008	splice site	probably benign
R1748:Ccser2	UTSW	14	36896313	missense	probably damaging	1.00
R1748:Ccser2	UTSW	14	36896314	nonsense	probably null
R1854:Ccser2	UTSW	14	36918591	missense	possibly damaging	0.94
R2405:Ccser2	UTSW	14	36938669	missense	probably damaging	1.00
R2926:Ccser2	UTSW	14	36879561	missense	possibly damaging	0.91
R3846:Ccser2	UTSW	14	36940288	missense	probably benign
R4298:Ccser2	UTSW	14	36890380	missense	possibly damaging	0.63
R4701:Ccser2	UTSW	14	36938697	missense	probably damaging	1.00
R4746:Ccser2	UTSW	14	36909125	missense	probably damaging	1.00
R4888:Ccser2	UTSW	14	36940386	missense	probably damaging	0.98
R4959:Ccser2	UTSW	14	36940796	missense	probably benign	0.00
R5020:Ccser2	UTSW	14	36940177	missense	probably benign	0.00
R5179:Ccser2	UTSW	14	36879351	missense	possibly damaging	0.79
R5378:Ccser2	UTSW	14	36879434	missense	possibly damaging	0.65
R6011:Ccser2	UTSW	14	36879575	missense	probably benign	0.17
R6057:Ccser2	UTSW	14	36941165	missense	probably damaging	0.98
R6180:Ccser2	UTSW	14	36940319	missense	probably benign
R6216:Ccser2	UTSW	14	36940508	missense	probably damaging	1.00
R6244:Ccser2	UTSW	14	36940718	missense	probably benign	0.00
R6266:Ccser2	UTSW	14	36879675	missense	probably damaging	1.00
R6730:Ccser2	UTSW	14	36879086	missense	probably damaging	1.00
R6862:Ccser2	UTSW	14	36940081	missense	probably benign
R7025:Ccser2	UTSW	14	36940007	missense	probably damaging	1.00
R7076:Ccser2	UTSW	14	36939829	missense	probably benign	0.14
R7092:Ccser2	UTSW	14	36940655	missense	probably benign	0.03
R7353:Ccser2	UTSW	14	36941143	missense	possibly damaging	0.91
R7440:Ccser2	UTSW	14	36898217	missense	possibly damaging	0.92
R7509:Ccser2	UTSW	14	36938645	missense	probably damaging	1.00
R7555:Ccser2	UTSW	14	36879500	missense	possibly damaging	0.65
R7770:Ccser2	UTSW	14	36926874	missense	probably damaging	1.00
X0066:Ccser2	UTSW	14	36940999	nonsense	probably null

Posted On

2012-04-20