Mutagenetix > Incidental Mutation

Incidental Mutation 'R1650:Ccser1'

174173

Institutional Source

Beutler Lab

Gene Symbol

Ccser1

Ensembl Gene

ENSMUSG00000039578

Gene Name

coiled-coil serine rich 1

Synonyms

6230405M12Rik, C130092O11Rik, Fam190a

MMRRC Submission

039686-MU

Accession Numbers

Essential gene?

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

Stock #

R1650 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61180324-62382865 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 61638490 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 659 (T659A)

Ref Sequence

ENSEMBL: ENSMUSP00000122894 (fasta)

Gene Model

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

AlphaFold

Q8C0C4

Predicted Effect

probably benign
Transcript: ENSMUST00000045522
AA Change: T659A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000040251
Gene: ENSMUSG00000039578
AA Change: T659A

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: T147A

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

SMART Domains

Protein: ENSMUSP00000067639
Gene: ENSMUSG00000039578
AA Change: T147A

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: T659A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000122894
Gene: ENSMUSG00000039578
AA Change: T659A

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: T87A

SMART Domains

Protein: ENSMUSP00000122633
Gene: ENSMUSG00000039578
AA Change: T87A

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

Meta Mutation Damage Score

0.0597

Coding Region Coverage

1x: 98.7%
3x: 97.4%
10x: 93.0%
20x: 83.4%

Validation Efficiency

99% (86/87)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	T	G	2: 103,702,402	V515G	probably damaging	Het
Arl5a	A	T	2: 52,412,105	I99N	probably damaging	Het
Atp8b1	A	G	18: 64,571,549		probably benign	Het
Bag4	T	A	8: 25,777,424	Q126L	probably damaging	Het
Cenpn	A	G	8: 116,934,759	D199G	probably damaging	Het
Cfhr3	A	G	1: 139,593,826		noncoding transcript	Het
Clca2	T	A	3: 145,092,212	H164L	probably damaging	Het
Col5a1	C	A	2: 27,922,159	S84R	unknown	Het
Ctsc	T	A	7: 88,281,426	L71*	probably null	Het
Cyp2c70	A	G	19: 40,165,477	Y223H	probably benign	Het
Dbt	A	G	3: 116,534,732		probably null	Het
Dlg2	T	C	7: 92,431,051	V614A	probably damaging	Het
Dll4	T	C	2: 119,331,130	S398P	probably damaging	Het
Dyrk4	T	C	6: 126,899,829	K62E	probably benign	Het
Fam35a	T	A	14: 34,259,617		probably benign	Het
Fgf22	A	T	10: 79,755,189	Y24F	probably damaging	Het
Ggt5	A	G	10: 75,604,761	R239G	probably benign	Het
Gm11360	C	T	13: 27,956,396	A81V	unknown	Het
Htr5b	T	A	1: 121,528,162	T10S	probably benign	Het
Igsf10	T	C	3: 59,326,162	R1717G	probably damaging	Het
Itsn2	T	A	12: 4,637,767	V556D	probably damaging	Het
Kdm3b	T	C	18: 34,809,115	V553A	possibly damaging	Het
Krt84	G	A	15: 101,525,963	S523F	possibly damaging	Het
Lca5l	T	C	16: 96,178,940		probably null	Het
Lmbrd1	T	C	1: 24,711,558	W171R	probably damaging	Het
Lrp6	T	C	6: 134,468,769	Y1027C	probably benign	Het
Macf1	A	T	4: 123,456,600	Y1702*	probably null	Het
Mon2	T	C	10: 122,995,777	I1675V	probably benign	Het
Mtcl1	T	A	17: 66,385,876	K486M	probably damaging	Het
Nek1	A	T	8: 61,036,076	H338L	probably benign	Het
Ola1	A	T	2: 73,156,894	D131E	possibly damaging	Het
Olfr1128	C	A	2: 87,545,428	V39L	probably benign	Het
Olfr1158	C	T	2: 87,990,801	A230V	probably benign	Het
Olfr1280	C	T	2: 111,316,295	A272V	probably benign	Het
Olfr1366	T	C	13: 21,537,079	N294D	probably damaging	Het
Olfr141	A	T	2: 86,806,747	M84K	possibly damaging	Het
Olfr845	T	G	9: 19,338,647	F62L	possibly damaging	Het
Olr1	T	A	6: 129,507,089	M7L	probably benign	Het
Pan2	G	A	10: 128,317,899	E980K	probably damaging	Het
Pgm2	A	G	4: 99,962,070	K146E	possibly damaging	Het
Pgm2	C	A	4: 99,962,079	Q149K	probably benign	Het
Phlpp2	T	C	8: 109,933,955		probably benign	Het
Plekhs1	G	T	19: 56,471,042	G75C	probably damaging	Het
Plin4	G	A	17: 56,104,931	T700I	probably damaging	Het
Podxl2	G	A	6: 88,849,919	P71L	probably benign	Het
Pot1a	A	T	6: 25,745,965	V579D	probably damaging	Het
Poteg	A	G	8: 27,463,785	D318G	probably benign	Het
Ppp4r3a	A	T	12: 101,044,619	D554E	probably damaging	Het
Proser3	G	A	7: 30,540,326	A451V	probably damaging	Het
Rnf165	A	C	18: 77,462,417		probably null	Het
Strc	T	C	2: 121,380,885		probably benign	Het
Syce1	C	A	7: 140,778,387	C216F	possibly damaging	Het
Syne2	A	T	12: 75,904,259	K395*	probably null	Het
Trim28	G	A	7: 13,030,849	G831D	possibly damaging	Het
Tyw1	A	G	5: 130,288,911	I434V	possibly damaging	Het
Ubox5	G	A	2: 130,600,425	A114V	probably benign	Het
Ubqln3	C	T	7: 104,141,021	V621I	possibly damaging	Het
Unc79	A	G	12: 103,112,793	D1543G	possibly damaging	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,359,988		probably benign	Het
Wrnip1	C	A	13: 32,805,379	H283Q	probably benign	Het
Zan	A	T	5: 137,394,601		probably benign	Het
Zcchc10	A	T	11: 53,327,402	K1*	probably null	Het
Zfp592	T	A	7: 81,038,100	S925T	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
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
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

Predicted Primers

PCR Primer
(F):5'- TTTGCCTAACAGAGAAGGTAGCCATTC -3'
(R):5'- GTGAGATCACTGGAAAGTACAGCCC -3'

Sequencing Primer
(F):5'- CAGAGAAGGTAGCCATTCTATTTAAC -3'
(R):5'- CTAATCTCATCACTGAAGGGGCTG -3'

Posted On

2014-04-24