Mutagenetix > Incidental Mutation

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

2900054P12Rik, 1700012P13Rik, Gcap14

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.172) question?

Stock #

IGL00486

Quality Score

Status

Chromosome

Chromosomal Location

36596893-36690734 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36662021 bp (GRCm39)

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]

AlphaFold

Q3UHI0

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: 119,846,076 (GRCm39)	T576A	probably damaging	Het
As3mt	A	G	19: 46,708,864 (GRCm39)	E286G	probably benign	Het
Baiap3	G	T	17: 25,467,351 (GRCm39)		probably benign	Het
C1qc	T	C	4: 136,617,445 (GRCm39)	E217G	probably damaging	Het
Clcn7	C	A	17: 25,370,097 (GRCm39)	A328D	probably damaging	Het
Clstn1	G	A	4: 149,719,700 (GRCm39)	R415Q	probably damaging	Het
Hcn4	T	C	9: 58,767,336 (GRCm39)	S966P	unknown	Het
Heph	A	T	X: 95,571,284 (GRCm39)	D748V	probably damaging	Het
Herc1	C	T	9: 66,383,402 (GRCm39)	T3691I	probably benign	Het
Hsd17b14	A	G	7: 45,216,137 (GRCm39)	T236A	possibly damaging	Het
Kif28	C	A	1: 179,530,081 (GRCm39)	L693F	probably damaging	Het
Mnd1	T	C	3: 84,045,505 (GRCm39)	E33G	possibly damaging	Het
Nbas	T	G	12: 13,503,076 (GRCm39)	D1520E	probably benign	Het
Poli	C	T	18: 70,658,561 (GRCm39)	G81R	probably damaging	Het
Pou6f2	G	A	13: 18,314,170 (GRCm39)	S401F	probably damaging	Het
Ppp1r3c	G	A	19: 36,711,324 (GRCm39)	R149W	probably damaging	Het
Ptprc	C	A	1: 138,043,359 (GRCm39)	C64F	probably damaging	Het
Ptprz1	T	C	6: 22,973,053 (GRCm39)	Y274H	probably damaging	Het
Ranbp2	T	A	10: 58,313,434 (GRCm39)	L1385I	probably benign	Het
Sgms1	A	T	19: 32,137,025 (GRCm39)	F180L	probably damaging	Het
Slc7a9	T	A	7: 35,160,312 (GRCm39)	M396K	probably damaging	Het
Syt17	T	C	7: 118,033,513 (GRCm39)	D165G	probably damaging	Het
Tnxb	T	C	17: 34,911,356 (GRCm39)	L1553P	probably damaging	Het
Trim31	C	A	17: 37,220,133 (GRCm39)	Q350K	probably benign	Het
Wnk3	A	G	X: 150,016,025 (GRCm39)	R494G	probably damaging	Het
Zmym6	A	G	4: 127,017,978 (GRCm39)		probably benign	Het

Other mutations in Ccser2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01285:Ccser2	APN	14	36,660,626 (GRCm39)	missense	probably damaging	1.00
IGL01622:Ccser2	APN	14	36,662,920 (GRCm39)	missense	probably benign	0.03
IGL01623:Ccser2	APN	14	36,662,920 (GRCm39)	missense	probably benign	0.03
IGL02322:Ccser2	APN	14	36,631,086 (GRCm39)	missense	probably damaging	1.00
IGL02342:Ccser2	APN	14	36,640,562 (GRCm39)	splice site	probably benign
IGL02899:Ccser2	APN	14	36,662,716 (GRCm39)	missense	probably benign	0.39
R0433:Ccser2	UTSW	14	36,640,486 (GRCm39)	missense	probably damaging	1.00
R0543:Ccser2	UTSW	14	36,662,149 (GRCm39)	missense	probably benign
R0674:Ccser2	UTSW	14	36,640,548 (GRCm39)	missense	possibly damaging	0.94
R0853:Ccser2	UTSW	14	36,662,367 (GRCm39)	missense	probably benign	0.18
R0964:Ccser2	UTSW	14	36,630,965 (GRCm39)	splice site	probably benign
R1748:Ccser2	UTSW	14	36,618,271 (GRCm39)	nonsense	probably null
R1748:Ccser2	UTSW	14	36,618,270 (GRCm39)	missense	probably damaging	1.00
R1854:Ccser2	UTSW	14	36,640,548 (GRCm39)	missense	possibly damaging	0.94
R2405:Ccser2	UTSW	14	36,660,626 (GRCm39)	missense	probably damaging	1.00
R2926:Ccser2	UTSW	14	36,601,518 (GRCm39)	missense	possibly damaging	0.91
R3846:Ccser2	UTSW	14	36,662,245 (GRCm39)	missense	probably benign
R4298:Ccser2	UTSW	14	36,612,337 (GRCm39)	missense	possibly damaging	0.63
R4701:Ccser2	UTSW	14	36,660,654 (GRCm39)	missense	probably damaging	1.00
R4746:Ccser2	UTSW	14	36,631,082 (GRCm39)	missense	probably damaging	1.00
R4888:Ccser2	UTSW	14	36,662,343 (GRCm39)	missense	probably damaging	0.98
R4959:Ccser2	UTSW	14	36,662,753 (GRCm39)	missense	probably benign	0.00
R5020:Ccser2	UTSW	14	36,662,134 (GRCm39)	missense	probably benign	0.00
R5179:Ccser2	UTSW	14	36,601,308 (GRCm39)	missense	possibly damaging	0.79
R5378:Ccser2	UTSW	14	36,601,391 (GRCm39)	missense	possibly damaging	0.65
R6011:Ccser2	UTSW	14	36,601,532 (GRCm39)	missense	probably benign	0.17
R6057:Ccser2	UTSW	14	36,663,122 (GRCm39)	missense	probably damaging	0.98
R6180:Ccser2	UTSW	14	36,662,276 (GRCm39)	missense	probably benign
R6216:Ccser2	UTSW	14	36,662,465 (GRCm39)	missense	probably damaging	1.00
R6244:Ccser2	UTSW	14	36,662,675 (GRCm39)	missense	probably benign	0.00
R6266:Ccser2	UTSW	14	36,601,632 (GRCm39)	missense	probably damaging	1.00
R6730:Ccser2	UTSW	14	36,601,043 (GRCm39)	missense	probably damaging	1.00
R6862:Ccser2	UTSW	14	36,662,038 (GRCm39)	missense	probably benign
R7025:Ccser2	UTSW	14	36,661,964 (GRCm39)	missense	probably damaging	1.00
R7076:Ccser2	UTSW	14	36,661,786 (GRCm39)	missense	probably benign	0.14
R7092:Ccser2	UTSW	14	36,662,612 (GRCm39)	missense	probably benign	0.03
R7353:Ccser2	UTSW	14	36,663,100 (GRCm39)	missense	possibly damaging	0.91
R7440:Ccser2	UTSW	14	36,620,174 (GRCm39)	missense	possibly damaging	0.92
R7509:Ccser2	UTSW	14	36,660,602 (GRCm39)	missense	probably damaging	1.00
R7555:Ccser2	UTSW	14	36,601,457 (GRCm39)	missense	possibly damaging	0.65
R7770:Ccser2	UTSW	14	36,648,831 (GRCm39)	missense	probably damaging	1.00
R8103:Ccser2	UTSW	14	36,618,240 (GRCm39)	missense	probably damaging	1.00
R8194:Ccser2	UTSW	14	36,618,220 (GRCm39)	missense	probably damaging	1.00
R8356:Ccser2	UTSW	14	36,612,331 (GRCm39)	missense	probably benign	0.00
R8456:Ccser2	UTSW	14	36,612,331 (GRCm39)	missense	probably benign	0.00
R8805:Ccser2	UTSW	14	36,601,712 (GRCm39)	missense	probably damaging	1.00
R8890:Ccser2	UTSW	14	36,601,352 (GRCm39)	missense	probably damaging	0.98
R8994:Ccser2	UTSW	14	36,662,076 (GRCm39)	missense	probably benign	0.06
R9274:Ccser2	UTSW	14	36,660,737 (GRCm39)	missense	possibly damaging	0.54
R9425:Ccser2	UTSW	14	36,601,163 (GRCm39)	missense	probably benign	0.01
R9502:Ccser2	UTSW	14	36,631,090 (GRCm39)	missense	probably benign	0.01
R9644:Ccser2	UTSW	14	36,601,150 (GRCm39)	missense	possibly damaging	0.90
X0066:Ccser2	UTSW	14	36,662,956 (GRCm39)	nonsense	probably null

Posted On

2012-04-20