Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02152:Ccser1'

282069

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

Essential gene?

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

Stock #

IGL02152

Quality Score

Status

Chromosome

Chromosomal Location

61180324-62382865 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 61311708 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 285 (D285G)

Ref Sequence

ENSEMBL: ENSMUSP00000122894 (fasta)

Gene Model

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

AlphaFold

Q8C0C4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045522
AA Change: D285G

PolyPhen 2 Score 0.574 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000040251
Gene: ENSMUSG00000039578
AA Change: D285G

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

possibly damaging
Transcript: ENSMUST00000126214
AA Change: D285G

PolyPhen 2 Score 0.574 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000122894
Gene: ENSMUSG00000039578
AA Change: D285G

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016K19Rik	A	G	11: 76,003,225	I143V	probably benign	Het
1700028K03Rik	A	G	5: 107,548,117	T140A	probably benign	Het
4933430I17Rik	T	C	4: 62,542,754	Y289H	possibly damaging	Het
Adamts17	T	A	7: 67,125,000	S956T	probably benign	Het
Adamts6	A	T	13: 104,313,660	S290C	probably null	Het
Apaf1	A	T	10: 91,061,819	H267Q	probably benign	Het
Aplp2	G	A	9: 31,211,651	P26L	unknown	Het
Arid1b	C	T	17: 5,313,968	S1019F	probably damaging	Het
Armc3	G	A	2: 19,286,137		probably null	Het
Ass1	T	C	2: 31,492,324	I169T	probably damaging	Het
Cenpf	A	G	1: 189,649,012	V2737A	probably benign	Het
Chrm5	A	G	2: 112,480,568	Y68H	probably damaging	Het
Cops4	A	G	5: 100,533,590	T164A	probably benign	Het
Cox4i1	A	G	8: 120,672,865	S72G	probably benign	Het
Cpox	A	G	16: 58,674,424	T275A	possibly damaging	Het
Cyb5a	T	C	18: 84,873,156	I68T	probably benign	Het
Efna5	T	C	17: 62,651,060	D67G	probably benign	Het
Enpp3	T	C	10: 24,774,002	E842G	probably damaging	Het
Fam208b	C	T	13: 3,585,371	E479K	probably benign	Het
Fam210b	A	G	2: 172,351,503	K79E	probably benign	Het
Gm17359	T	C	3: 79,345,532	I18T	possibly damaging	Het
Gm4799	T	C	10: 82,954,755		noncoding transcript	Het
Gpr146	A	T	5: 139,392,712	R90W	probably damaging	Het
Hal	A	G	10: 93,503,542	I498V	possibly damaging	Het
Hist1h2af	A	G	13: 23,534,281	H124R	probably benign	Het
Hnrnpm	C	T	17: 33,658,412	G365R	probably damaging	Het
Jakmip3	A	G	7: 139,025,488	D407G	probably damaging	Het
Kank1	A	G	19: 25,428,172	I1185V	possibly damaging	Het
Kcnj16	A	T	11: 111,025,210	M233L	probably benign	Het
Klhl5	A	T	5: 65,148,800	Q370L	probably damaging	Het
L3hypdh	C	T	12: 72,077,143		probably null	Het
Las1l	A	G	X: 95,953,302	V130A	probably damaging	Het
Lrp2bp	A	T	8: 46,023,044	Y274F	probably damaging	Het
Morc2b	T	A	17: 33,137,943	K285M	probably damaging	Het
Mpp3	A	T	11: 102,025,390	Y45*	probably null	Het
Muc4	T	A	16: 32,777,649		probably benign	Het
Muc5ac	T	C	7: 141,800,177	C837R	possibly damaging	Het
Mum1	A	G	10: 80,239,978	D466G	probably damaging	Het
Nr2f6	T	A	8: 71,376,166	I155F	probably damaging	Het
Nsg1	A	G	5: 38,144,801	F50L	probably benign	Het
Olfr304	T	A	7: 86,386,043	M206L	probably benign	Het
Ostf1	C	A	19: 18,590,458	G101C	probably damaging	Het
Pam	C	T	1: 97,840,749	R552Q	probably damaging	Het
Pkd1l3	A	G	8: 109,669,292	N2108S	probably damaging	Het
Prkdc	A	T	16: 15,669,285	H484L	probably benign	Het
Rfx5	G	A	3: 94,957,182	R213Q	probably damaging	Het
Ryr1	T	C	7: 29,052,015	S3715G	possibly damaging	Het
Sall2	A	G	14: 52,315,514	S73P	probably damaging	Het
Sec22c	G	A	9: 121,684,779	A264V	probably benign	Het
Sis	A	C	3: 72,888,986		probably benign	Het
Spam1	T	A	6: 24,800,803		probably benign	Het
St13	T	A	15: 81,366,382	I318F	probably damaging	Het
Syne1	T	C	10: 5,424,382	I142V	probably damaging	Het
Trpm6	A	T	19: 18,832,539	T1100S	possibly damaging	Het
Ttll6	G	A	11: 96,135,540	W90*	probably null	Het
Txndc12	T	A	4: 108,834,792	C9*	probably null	Het
Ubr7	C	T	12: 102,768,276	Q270*	probably null	Het
Vps33b	A	G	7: 80,285,069	S302G	probably benign	Het
Xylt1	T	A	7: 117,634,770	V508E	probably damaging	Het
Zbtb26	A	T	2: 37,436,691	L111Q	possibly damaging	Het
Zfp410	T	C	12: 84,332,928		probably benign	Het
Zscan18	A	T	7: 12,775,296		probably benign	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
IGL01767:Ccser1	APN	6	61718152	missense	probably benign	0.03
IGL02081:Ccser1	APN	6	61311168	nonsense	probably null
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
R7256:Ccser1	UTSW	6	61311867	missense	probably benign	0.38
R7362:Ccser1	UTSW	6	61810880	missense	unknown
R7508:Ccser1	UTSW	6	61570723	missense	probably benign	0.05
R7532:Ccser1	UTSW	6	62379931	nonsense	probably null
R7533:Ccser1	UTSW	6	61638490	missense	probably benign	0.25
R7729:Ccser1	UTSW	6	61311856	missense	probably benign
R7875:Ccser1	UTSW	6	61311948	missense	probably benign	0.06
R8055:Ccser1	UTSW	6	61313773	missense	possibly damaging	0.47
R8396:Ccser1	UTSW	6	61312104	missense	probably benign	0.09
R8724:Ccser1	UTSW	6	61311215	missense	probably damaging	0.99
R8849:Ccser1	UTSW	6	61311553	missense	probably benign	0.00
R8906:Ccser1	UTSW	6	61810858	missense	probably benign	0.00
R9058:Ccser1	UTSW	6	61373992	missense	probably damaging	1.00

Posted On

2015-04-16