Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01643:Ccser1'

93594

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccser1

Ensembl Gene

ENSMUSG00000039578

Gene Name

coiled-coil serine rich 1

Synonyms

6230405M12Rik, Fam190a, C130092O11Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.169) question?

Stock #

IGL01643

Quality Score

Status

Chromosome

Chromosomal Location

61157308-62359849 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 61288839 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 334 (H334R)

Ref Sequence

ENSEMBL: ENSMUSP00000122894 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045522] [ENSMUST00000126214]

AlphaFold

Q8C0C4

Predicted Effect

probably benign
Transcript: ENSMUST00000045522
AA Change: H334R

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000040251
Gene: ENSMUSG00000039578
AA Change: H334R

Domain	Start	End	E-Value	Type
low complexity region	28	36	N/A	INTRINSIC
low complexity region	43	61	N/A	INTRINSIC
low complexity region	435	446	N/A	INTRINSIC
low complexity region	510	525	N/A	INTRINSIC
low complexity region	645	659	N/A	INTRINSIC
coiled coil region	674	703	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000126214
AA Change: H334R

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000122894
Gene: ENSMUSG00000039578
AA Change: H334R

Domain	Start	End	E-Value	Type
low complexity region	28	36	N/A	INTRINSIC
low complexity region	43	61	N/A	INTRINSIC
low complexity region	435	446	N/A	INTRINSIC
low complexity region	510	525	N/A	INTRINSIC
low complexity region	645	659	N/A	INTRINSIC
coiled coil region	674	703	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131989

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133478

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147576

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	C	T	11: 72,082,414 (GRCm39)	R304Q	probably damaging	Het
Afap1l1	T	A	18: 61,884,897 (GRCm39)	E196V	probably damaging	Het
Bmp5	A	T	9: 75,746,895 (GRCm39)	D251V	probably damaging	Het
Crnkl1	A	G	2: 145,773,268 (GRCm39)	M126T	probably damaging	Het
Ddrgk1	T	C	2: 130,500,214 (GRCm39)		probably benign	Het
Dpy19l4	T	C	4: 11,290,184 (GRCm39)		probably benign	Het
Eral1	A	G	11: 77,965,104 (GRCm39)		probably null	Het
Ereg	T	A	5: 91,234,637 (GRCm39)	S17T	probably benign	Het
Fgfr1	T	A	8: 26,056,751 (GRCm39)	M280K	probably benign	Het
Gpr65	A	G	12: 98,242,013 (GRCm39)	E222G	probably damaging	Het
Grid1	G	T	14: 35,045,392 (GRCm39)		probably null	Het
Hspa12b	A	G	2: 130,984,617 (GRCm39)	T329A	probably damaging	Het
Inpp4b	A	G	8: 82,798,400 (GRCm39)	I863V	probably damaging	Het
Kash5	A	T	7: 44,849,710 (GRCm39)	M71K	probably damaging	Het
Krt8	G	T	15: 101,905,508 (GRCm39)	S447Y	possibly damaging	Het
Lama2	T	A	10: 26,946,368 (GRCm39)		probably benign	Het
Lama4	A	C	10: 38,932,846 (GRCm39)	N574T	probably benign	Het
Lig3	T	C	11: 82,689,118 (GRCm39)	S791P	probably damaging	Het
Oas2	A	T	5: 120,874,252 (GRCm39)		probably benign	Het
Or4c12b	A	T	2: 89,647,017 (GRCm39)	I116F	probably damaging	Het
Pdk1	A	G	2: 71,728,049 (GRCm39)	D370G	probably damaging	Het
Popdc3	T	A	10: 45,190,976 (GRCm39)	I29N	probably damaging	Het
Rbp3	A	T	14: 33,678,793 (GRCm39)	I914F	probably benign	Het
Rnf207	C	T	4: 152,402,718 (GRCm39)		probably benign	Het
Ryr2	T	A	13: 11,707,563 (GRCm39)	I2825F	possibly damaging	Het
Slc37a2	A	T	9: 37,146,849 (GRCm39)		probably benign	Het
Vps8	T	C	16: 21,336,972 (GRCm39)	V791A	possibly damaging	Het
Wdr64	T	C	1: 175,599,877 (GRCm39)	L127P	probably damaging	Het
Whrn	T	C	4: 63,334,672 (GRCm39)	T368A	possibly damaging	Het

Other mutations in Ccser1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Ccser1	APN	6	62,357,126 (GRCm39)	missense	possibly damaging	0.80
IGL00858:Ccser1	APN	6	61,787,649 (GRCm39)	nonsense	probably null
IGL01012:Ccser1	APN	6	61,615,474 (GRCm39)	missense	probably benign	0.01
IGL01391:Ccser1	APN	6	61,615,505 (GRCm39)	splice site	probably benign
IGL01767:Ccser1	APN	6	61,695,136 (GRCm39)	missense	probably benign	0.03
IGL02081:Ccser1	APN	6	61,288,152 (GRCm39)	nonsense	probably null
IGL02152:Ccser1	APN	6	61,288,692 (GRCm39)	missense	possibly damaging	0.57
IGL02870:Ccser1	APN	6	61,288,276 (GRCm39)	missense	probably damaging	0.99
IGL02890:Ccser1	APN	6	62,356,815 (GRCm39)	missense	probably damaging	0.99
IGL03147:Ccser1	UTSW	6	61,289,144 (GRCm39)	missense	probably benign	0.02
R0020:Ccser1	UTSW	6	61,290,788 (GRCm39)	missense	possibly damaging	0.62
R0831:Ccser1	UTSW	6	61,400,045 (GRCm39)	missense	probably damaging	0.99
R1306:Ccser1	UTSW	6	62,357,090 (GRCm39)	missense	probably damaging	0.99
R1441:Ccser1	UTSW	6	62,357,016 (GRCm39)	missense	probably benign	0.00
R1650:Ccser1	UTSW	6	61,615,474 (GRCm39)	missense	probably benign	0.01
R1653:Ccser1	UTSW	6	61,288,449 (GRCm39)	missense	probably benign	0.00
R1913:Ccser1	UTSW	6	62,356,878 (GRCm39)	missense	probably damaging	0.99
R1961:Ccser1	UTSW	6	61,290,630 (GRCm39)	splice site	probably benign
R2030:Ccser1	UTSW	6	61,288,547 (GRCm39)	missense	probably benign
R2056:Ccser1	UTSW	6	61,399,936 (GRCm39)	splice site	probably null
R2268:Ccser1	UTSW	6	61,547,827 (GRCm39)	missense	probably damaging	1.00
R2280:Ccser1	UTSW	6	61,547,799 (GRCm39)	missense	probably damaging	1.00
R2281:Ccser1	UTSW	6	61,547,799 (GRCm39)	missense	probably damaging	1.00
R2571:Ccser1	UTSW	6	61,399,944 (GRCm39)	missense	probably damaging	1.00
R4606:Ccser1	UTSW	6	61,288,568 (GRCm39)	missense	probably damaging	0.99
R4711:Ccser1	UTSW	6	61,288,910 (GRCm39)	missense	possibly damaging	0.74
R4770:Ccser1	UTSW	6	61,288,485 (GRCm39)	missense	possibly damaging	0.85
R4932:Ccser1	UTSW	6	61,695,175 (GRCm39)	missense	possibly damaging	0.78
R5078:Ccser1	UTSW	6	61,288,350 (GRCm39)	missense	probably damaging	0.97
R5097:Ccser1	UTSW	6	61,289,144 (GRCm39)	missense	probably benign	0.02
R5221:Ccser1	UTSW	6	61,289,075 (GRCm39)	missense	probably damaging	0.99
R5378:Ccser1	UTSW	6	61,288,650 (GRCm39)	missense	probably benign	0.00
R5604:Ccser1	UTSW	6	61,290,788 (GRCm39)	missense	probably damaging	0.97
R5700:Ccser1	UTSW	6	61,288,260 (GRCm39)	missense	probably benign	0.00
R5970:Ccser1	UTSW	6	61,288,226 (GRCm39)	missense	possibly damaging	0.94
R6257:Ccser1	UTSW	6	62,356,769 (GRCm39)	missense	probably benign
R6257:Ccser1	UTSW	6	61,350,946 (GRCm39)	missense	probably damaging	0.96
R6375:Ccser1	UTSW	6	61,288,152 (GRCm39)	nonsense	probably null
R6703:Ccser1	UTSW	6	61,615,495 (GRCm39)	nonsense	probably null
R6930:Ccser1	UTSW	6	62,357,009 (GRCm39)	missense	probably benign	0.03
R7256:Ccser1	UTSW	6	61,288,851 (GRCm39)	missense	probably benign	0.38
R7362:Ccser1	UTSW	6	61,787,864 (GRCm39)	missense	unknown
R7508:Ccser1	UTSW	6	61,547,707 (GRCm39)	missense	probably benign	0.05
R7532:Ccser1	UTSW	6	62,356,915 (GRCm39)	nonsense	probably null
R7533:Ccser1	UTSW	6	61,615,474 (GRCm39)	missense	probably benign	0.25
R7729:Ccser1	UTSW	6	61,288,840 (GRCm39)	missense	probably benign
R7875:Ccser1	UTSW	6	61,288,932 (GRCm39)	missense	probably benign	0.06
R8055:Ccser1	UTSW	6	61,290,757 (GRCm39)	missense	possibly damaging	0.47
R8396:Ccser1	UTSW	6	61,289,088 (GRCm39)	missense	probably benign	0.09
R8724:Ccser1	UTSW	6	61,288,199 (GRCm39)	missense	probably damaging	0.99
R8849:Ccser1	UTSW	6	61,288,537 (GRCm39)	missense	probably benign	0.00
R8906:Ccser1	UTSW	6	61,787,842 (GRCm39)	missense	probably benign	0.00
R9058:Ccser1	UTSW	6	61,350,976 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-12-09