Mutagenetix > Incidental Mutation

Incidental Mutation 'R7729:Ccser1'

595699

Institutional Source

Beutler Lab

Gene Symbol

Ccser1

Ensembl Gene

ENSMUSG00000039578

Gene Name

coiled-coil serine rich 1

Synonyms

6230405M12Rik, C130092O11Rik, Fam190a

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.211) question?

Stock #

R7729 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

61180324-62382865 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 61311856 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 334 (H334Q)

Ref Sequence

ENSEMBL: ENSMUSP00000040251 (fasta)

Gene Model

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

AlphaFold

Q8C0C4

Predicted Effect

probably benign
Transcript: ENSMUST00000045522
AA Change: H334Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000040251
Gene: ENSMUSG00000039578
AA Change: H334Q

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: H334Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000122894
Gene: ENSMUSG00000039578
AA Change: H334Q

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	C	T	13: 59,741,623	M794I	not run	Het
1810024B03Rik	T	G	2: 127,186,790	D163A	possibly damaging	Het
Abce1	A	T	8: 79,687,908	I454N	probably damaging	Het
Acaca	A	G	11: 84,371,513	I1980M	probably damaging	Het
Adgrb2	C	T	4: 129,992,124	T19M	probably benign	Het
Agmo	T	A	12: 37,414,975	S417T	probably benign	Het
Akap8l	T	C	17: 32,333,094	E403G	probably damaging	Het
Art5	C	T	7: 102,098,504	A23T	possibly damaging	Het
Atg9a	T	C	1: 75,184,560	T681A	probably benign	Het
Atp11b	A	G	3: 35,778,107	Q37R	probably damaging	Het
Atp2a2	T	C	5: 122,491,766	E80G	probably benign	Het
AW551984	G	A	9: 39,599,775	P172L	possibly damaging	Het
Bace1	C	T	9: 45,858,445	R296C	probably damaging	Het
Chtf18	C	T	17: 25,723,517	R449H	probably damaging	Het
Cit	A	G	5: 115,984,822	H1384R	possibly damaging	Het
Cltc	A	G	11: 86,721,648	I524T	probably benign	Het
Dctn1	T	A	6: 83,183,060	I94N	probably damaging	Het
Ddx58	T	A	4: 40,206,034	I853F	possibly damaging	Het
Dnhd1	A	T	7: 105,705,265	D3078V	probably damaging	Het
Dock7	G	A	4: 99,055,446	P520S		Het
Epb41l4a	C	A	18: 33,854,273	K350N	probably damaging	Het
Eprs	T	A	1: 185,413,169	Y1130N	probably damaging	Het
Fcgrt	T	C	7: 45,095,373	T224A	probably damaging	Het
Flt1	T	A	5: 147,700,367	T39S	probably benign	Het
Fxyd1	T	C	7: 31,053,471	Y33C	probably damaging	Het
Gab2	T	A	7: 97,301,426	V442E	probably damaging	Het
Ganab	A	G	19: 8,914,712	D800G	probably benign	Het
Gata4	C	A	14: 63,240,737	A138S	probably benign	Het
Golga4	A	G	9: 118,556,063	H751R	possibly damaging	Het
Hist1h1t	A	G	13: 23,696,472	R203G	possibly damaging	Het
Htra4	A	G	8: 25,037,077	V234A	possibly damaging	Het
Igkv4-74	A	T	6: 69,184,970	Y72N	probably damaging	Het
Iqsec3	T	C	6: 121,383,981	K973E	probably damaging	Het
Khdc1b	C	A	1: 21,384,841	T108K	probably benign	Het
Krtap5-1	ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG	ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG	7: 142,296,596		probably benign	Het
Kyat3	A	G	3: 142,726,305		probably null	Het
Lrba	T	A	3: 86,318,167	V666E	probably damaging	Het
Mettl25	T	A	10: 105,766,010	Y528F	probably benign	Het
Mms19	A	T	19: 41,952,465	Y619*	probably null	Het
Nlrp12	A	C	7: 3,228,388		probably null	Het
Nol10	C	T	12: 17,424,675	L623F	possibly damaging	Het
Oas1g	A	G	5: 120,886,000	F82S	probably damaging	Het
Olfr1537	G	A	9: 39,238,250	P58L	probably benign	Het
Olfr195	C	T	16: 59,149,207	A119V	probably damaging	Het
Olfr335-ps	T	G	2: 36,301,760	S74A	probably benign	Het
Oxr1	G	A	15: 41,823,467	E582K	probably damaging	Het
Pdia3	A	G	2: 121,432,357	D268G	possibly damaging	Het
Pramef12	T	C	4: 144,392,864	S378G	probably damaging	Het
Rcor3	A	G	1: 192,101,778	Y387H	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,911		probably benign	Het
Rsl1	T	C	13: 67,182,220	L244P	possibly damaging	Het
Scn5a	G	T	9: 119,495,540	N1407K	probably damaging	Het
Sdcbp	C	T	4: 6,378,985	A24V	probably benign	Het
Slc22a8	A	G	19: 8,593,959	Y18C	possibly damaging	Het
Slc35d1	C	T	4: 103,214,847	R7H	probably damaging	Het
Slco6d1	A	T	1: 98,497,523	T599S	probably damaging	Het
St18	T	A	1: 6,802,537	H165Q	probably benign	Het
Sub1	C	T	15: 11,986,503	R86K	probably damaging	Het
Tectb	G	A	19: 55,192,672	V148M		Het
Tgfb2	C	A	1: 186,630,757	G290V	possibly damaging	Het
Tgm7	T	C	2: 121,093,710	H577R	probably benign	Het
Tle2	T	C	10: 81,587,147	S460P	probably damaging	Het
Tmem221	C	A	8: 71,558,802	R3L	possibly damaging	Het
Tnfrsf19	C	A	14: 60,974,734	V156L	possibly damaging	Het
Trav6-5	A	G	14: 53,491,507	K75E	probably benign	Het
Trip10	G	A	17: 57,262,442	G488S	probably damaging	Het
Usp34	A	C	11: 23,449,268	K2419T		Het
Vps13d	T	C	4: 145,075,052	Q3532R		Het
Vps4a	A	T	8: 107,040,897	I163L	probably damaging	Het
Wrn	T	C	8: 33,324,426	H330R	probably benign	Het
Xpr1	T	C	1: 155,312,872	I341V	probably benign	Het
Zfyve9	T	C	4: 108,691,776	E105G	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
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
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'- CCTTTCCTAAAAGTGGAAGCAC -3'
(R):5'- AAAGCGTTCAGCCAATGCC -3'

Sequencing Primer
(F):5'- CGGCATCACACTGTGACAATTTTG -3'
(R):5'- AGCCAATGCCTTGTGCTG -3'

Posted On

2019-11-12