Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01767:Ccser1'

153349

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccser1

Ensembl Gene

ENSMUSG00000039578

Gene Name

coiled-coil serine rich 1

Synonyms

6230405M12Rik, C130092O11Rik, Fam190a

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

IGL01767

Quality Score

Status

Chromosome

Chromosomal Location

61180324-62382865 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 61718152 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 157 (T157K)

Ref Sequence

ENSEMBL: ENSMUSP00000067639 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045522] [ENSMUST00000067307] [ENSMUST00000126214]

Predicted Effect

probably benign
Transcript: ENSMUST00000045522
AA Change: T669K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000040251
Gene: ENSMUSG00000039578
AA Change: T669K

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: ENSMUST00000067307
AA Change: T157K

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000067639
Gene: ENSMUSG00000039578
AA Change: T157K

Domain	Start	End	E-Value	Type
low complexity region	1	13	N/A	INTRINSIC
low complexity region	133	147	N/A	INTRINSIC
coiled coil region	162	191	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000126214
AA Change: T669K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000122894
Gene: ENSMUSG00000039578
AA Change: T669K

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

unknown
Transcript: ENSMUST00000134710
AA Change: T97K

SMART Domains

Protein: ENSMUSP00000122633
Gene: ENSMUSG00000039578
AA Change: T97K

Domain	Start	End	E-Value	Type
low complexity region	74	88	N/A	INTRINSIC
coiled coil region	102	131	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145554

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	C	3: 37,041,363	V4505A	probably benign	Het
Aadat	A	T	8: 60,507,092	D31V	probably damaging	Het
Acaca	A	T	11: 84,320,542	Y1560F	probably benign	Het
Actl7a	A	G	4: 56,743,980	E169G	probably damaging	Het
Adgrb3	A	G	1: 25,559,814	V270A	probably benign	Het
Adgre4	G	A	17: 55,797,740	V269I	probably benign	Het
Ankhd1	A	G	18: 36,648,374	T2160A	probably damaging	Het
Bnip2	T	A	9: 70,002,116		probably benign	Het
Casp16-ps	A	G	17: 23,552,053	V126A	probably damaging	Het
Cdh23	A	G	10: 60,315,724	S2459P	probably damaging	Het
Cdk5rap3	A	T	11: 96,913,465	C21S	probably damaging	Het
Chmp6	G	A	11: 119,916,986	E72K	probably benign	Het
Cldn23	T	C	8: 35,825,662	Y224C	probably damaging	Het
Cry1	C	T	10: 85,146,474	G336D	probably damaging	Het
Cyp4f17	T	A	17: 32,506,982	F30I	probably benign	Het
Dgcr8	T	A	16: 18,278,336	D496V	probably damaging	Het
Dhx9	A	G	1: 153,468,868		probably benign	Het
Dnah10	C	T	5: 124,743,737		probably benign	Het
Dock9	T	C	14: 121,622,870	E880G	possibly damaging	Het
Dscam	A	G	16: 96,654,936	V1264A	probably damaging	Het
Eno1	T	C	4: 150,246,710	Y270H	probably benign	Het
Eprs	A	G	1: 185,384,915	D385G	probably damaging	Het
Ercc2	A	G	7: 19,390,421	Y215C	probably damaging	Het
Fam208b	G	A	13: 3,576,633	P1106S	probably benign	Het
Fscn2	A	G	11: 120,367,750	N400S	possibly damaging	Het
Fuca1	C	T	4: 135,939,201	T449I	probably benign	Het
Gm43638	T	C	5: 87,465,431	K492E	probably damaging	Het
Gm4778	T	A	3: 94,266,484	D262E	probably benign	Het
Gm5263	T	G	1: 146,420,564		noncoding transcript	Het
Gm8122	T	C	14: 43,232,701	T111A	unknown	Het
Gtf3c2	T	A	5: 31,157,635	N923Y	probably benign	Het
Il17a	T	A	1: 20,733,640	D86E	probably benign	Het
Itgb2l	G	T	16: 96,430,575	N330K	probably benign	Het
Kcnj11	T	C	7: 46,099,065	H278R	probably benign	Het
Khdrbs2	T	A	1: 32,619,176	Y272*	probably null	Het
Kndc1	A	T	7: 139,930,046	Q1267L	probably damaging	Het
Loxhd1	T	A	18: 77,286,424	F64I	possibly damaging	Het
Lrig2	T	A	3: 104,491,545	K222N	probably benign	Het
Lrrcc1	T	A	3: 14,547,272	Y378N	probably damaging	Het
Mblac2	T	C	13: 81,750,315	L270P	probably damaging	Het
Med13	A	T	11: 86,319,783	I511N	probably benign	Het
Myo3a	A	T	2: 22,423,222	E763D	probably damaging	Het
Olfr1240	C	T	2: 89,439,800	V160I	probably benign	Het
Olfr134	G	T	17: 38,175,686	V201L	probably benign	Het
Olfr1447	T	A	19: 12,901,748	T11S	probably benign	Het
Olfr384	T	A	11: 73,603,032	F151I	probably benign	Het
Olfr845	G	A	9: 19,339,302	V281I	possibly damaging	Het
Plxna4	T	A	6: 32,237,678	I623F	possibly damaging	Het
Ppp2ca	T	A	11: 52,118,055	Y127*	probably null	Het
Psg18	A	G	7: 18,353,397	V112A	possibly damaging	Het
Ptprj	A	T	2: 90,469,574	N108K	probably benign	Het
Rictor	A	G	15: 6,777,384	Y707C	probably damaging	Het
Rptn	T	C	3: 93,395,639	F93S	probably benign	Het
Rxrg	T	A	1: 167,627,315	C156S	probably damaging	Het
Slc24a4	T	C	12: 102,223,687		probably benign	Het
Slc25a27	C	T	17: 43,664,073		probably null	Het
Slx4	T	C	16: 3,990,248	K481E	probably benign	Het
Snx19	T	C	9: 30,463,264	W940R	possibly damaging	Het
Tcf20	G	A	15: 82,856,008	P414L	probably damaging	Het
Treml2	T	C	17: 48,302,810	V90A	probably benign	Het
Uckl1	C	T	2: 181,569,534	V501M	probably damaging	Het
Unc79	C	T	12: 103,141,997	T1937I	probably damaging	Het
Vmn2r17	A	T	5: 109,420,037	I9F	probably benign	Het
Vmn2r44	T	C	7: 8,380,238	H119R	probably benign	Het
Vmn2r78	A	G	7: 86,954,435	D607G	probably benign	Het
Vps13a	C	T	19: 16,663,894	G2288D	probably damaging	Het
Znfx1	G	T	2: 167,055,723	T427N	probably damaging	Het

Other mutations in Ccser1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Ccser1	APN	6	62380142	missense	possibly damaging	0.80
IGL00858:Ccser1	APN	6	61810665	nonsense	probably null
IGL01012:Ccser1	APN	6	61638490	missense	probably benign	0.01
IGL01391:Ccser1	APN	6	61638521	splice site	probably benign
IGL01643:Ccser1	APN	6	61311855	missense	probably benign	0.01
IGL02081:Ccser1	APN	6	61311168	nonsense	probably null
IGL02152:Ccser1	APN	6	61311708	missense	possibly damaging	0.57
IGL02870:Ccser1	APN	6	61311292	missense	probably damaging	0.99
IGL02890:Ccser1	APN	6	62379831	missense	probably damaging	0.99
IGL03147:Ccser1	UTSW	6	61312160	missense	probably benign	0.02
R0020:Ccser1	UTSW	6	61313804	missense	possibly damaging	0.62
R0831:Ccser1	UTSW	6	61423061	missense	probably damaging	0.99
R1306:Ccser1	UTSW	6	62380106	missense	probably damaging	0.99
R1441:Ccser1	UTSW	6	62380032	missense	probably benign	0.00
R1650:Ccser1	UTSW	6	61638490	missense	probably benign	0.01
R1653:Ccser1	UTSW	6	61311465	missense	probably benign	0.00
R1913:Ccser1	UTSW	6	62379894	missense	probably damaging	0.99
R1961:Ccser1	UTSW	6	61313646	splice site	probably benign
R2030:Ccser1	UTSW	6	61311563	missense	probably benign
R2056:Ccser1	UTSW	6	61422952	splice site	probably null
R2268:Ccser1	UTSW	6	61570843	missense	probably damaging	1.00
R2280:Ccser1	UTSW	6	61570815	missense	probably damaging	1.00
R2281:Ccser1	UTSW	6	61570815	missense	probably damaging	1.00
R2571:Ccser1	UTSW	6	61422960	missense	probably damaging	1.00
R4606:Ccser1	UTSW	6	61311584	missense	probably damaging	0.99
R4711:Ccser1	UTSW	6	61311926	missense	possibly damaging	0.74
R4770:Ccser1	UTSW	6	61311501	missense	possibly damaging	0.85
R4932:Ccser1	UTSW	6	61718191	missense	possibly damaging	0.78
R5078:Ccser1	UTSW	6	61311366	missense	probably damaging	0.97
R5097:Ccser1	UTSW	6	61312160	missense	probably benign	0.02
R5221:Ccser1	UTSW	6	61312091	missense	probably damaging	0.99
R5378:Ccser1	UTSW	6	61311666	missense	probably benign	0.00
R5604:Ccser1	UTSW	6	61313804	missense	probably damaging	0.97
R5700:Ccser1	UTSW	6	61311276	missense	probably benign	0.00
R5970:Ccser1	UTSW	6	61311242	missense	possibly damaging	0.94
R6257:Ccser1	UTSW	6	61373962	missense	probably damaging	0.96
R6257:Ccser1	UTSW	6	62379785	missense	probably benign
R6375:Ccser1	UTSW	6	61311168	nonsense	probably null
R6703:Ccser1	UTSW	6	61638511	nonsense	probably null
R6930:Ccser1	UTSW	6	62380025	missense	probably benign	0.03

Posted On

2014-02-04