Mutagenetix > Incidental Mutation

Incidental Mutation 'R6369:Ccdc191'

512870

Institutional Source

Beutler Lab

Gene Symbol

Ccdc191

Ensembl Gene

ENSMUSG00000022701

Gene Name

coiled-coil domain containing 191

Synonyms

2610015P09Rik

MMRRC Submission

044519-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.183) question?

Stock #

R6369 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43889800-43964314 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43915485 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 256 (N256S)

Ref Sequence

ENSEMBL: ENSMUSP00000137597 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000122014] [ENSMUST00000132859] [ENSMUST00000178400]

AlphaFold

J3QQ27

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122014

SMART Domains

Protein: ENSMUSP00000112569
Gene: ENSMUSG00000022701

Domain	Start	End	E-Value	Type
coiled coil region	202	241	N/A	INTRINSIC
coiled coil region	275	295	N/A	INTRINSIC
coiled coil region	336	366	N/A	INTRINSIC
low complexity region	407	426	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000132859
AA Change: N198S

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000116078
Gene: ENSMUSG00000022701
AA Change: N198S

Domain	Start	End	E-Value	Type
coiled coil region	144	183	N/A	INTRINSIC
coiled coil region	217	237	N/A	INTRINSIC
coiled coil region	278	308	N/A	INTRINSIC
low complexity region	349	368	N/A	INTRINSIC
coiled coil region	471	504	N/A	INTRINSIC
coiled coil region	568	641	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146343

Predicted Effect

probably benign
Transcript: ENSMUST00000178400
AA Change: N256S

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000137597
Gene: ENSMUSG00000022701
AA Change: N256S

Domain	Start	End	E-Value	Type
coiled coil region	202	241	N/A	INTRINSIC
coiled coil region	275	295	N/A	INTRINSIC
coiled coil region	336	366	N/A	INTRINSIC
low complexity region	407	426	N/A	INTRINSIC
coiled coil region	529	562	N/A	INTRINSIC
coiled coil region	626	699	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	C	T	17: 13,835,343	R571*	probably null	Het
Asb18	A	T	1: 90,014,471	I36N	probably damaging	Het
Ascc3	G	A	10: 50,699,985	G779S	probably damaging	Het
Atl2	T	C	17: 79,854,555	Q205R	probably damaging	Het
Axdnd1	A	G	1: 156,392,745	I235T	probably damaging	Het
Bri3bp	A	G	5: 125,454,701	N237S	probably damaging	Het
Cchcr1	T	C	17: 35,528,176	I474T	probably damaging	Het
Cd209c	T	C	8: 3,944,984	Y60C	probably damaging	Het
Cd300c	C	A	11: 114,957,555	D171Y	probably damaging	Het
Crb1	C	T	1: 139,237,462	V975M	probably damaging	Het
Csmd1	C	T	8: 17,535,004		probably benign	Het
Ctnna2	A	G	6: 76,980,695	S524P	possibly damaging	Het
Eno1	T	C	4: 150,239,568		probably null	Het
Ero1l	T	C	14: 45,299,958	I170M	probably damaging	Het
Fam186a	A	G	15: 99,947,331	M344T	unknown	Het
Frem1	A	T	4: 82,913,792		probably null	Het
Gjb5	G	T	4: 127,355,930	D140E	possibly damaging	Het
Gm11595	G	A	11: 99,772,555	R100C	unknown	Het
Hk2	G	T	6: 82,736,753	S449R	probably damaging	Het
Hs3st3a1	A	T	11: 64,520,601	I322F	probably benign	Het
Itga1	T	C	13: 114,965,660	I1145V	probably damaging	Het
Kcp	A	G	6: 29,484,694	L1295S	probably damaging	Het
Macf1	T	C	4: 123,410,562	D49G	possibly damaging	Het
Mef2b	T	A	8: 70,165,559	D96E	probably benign	Het
Megf10	A	T	18: 57,261,187	D461V	probably benign	Het
Myom1	T	C	17: 71,101,076	S1104P	probably damaging	Het
Nab1	A	G	1: 52,490,222	L172P	probably damaging	Het
Olfr123	T	G	17: 37,795,496	D17E	probably benign	Het
Pate1	A	G	9: 35,687,028	V18A	probably benign	Het
Pink1	T	C	4: 138,320,734		probably null	Het
Pnpla1	T	A	17: 28,878,481	I207N	probably damaging	Het
Ppp1r12b	T	C	1: 134,886,542	E341G	possibly damaging	Het
Ppp1r21	C	A	17: 88,582,412		probably null	Het
Rad52	A	G	6: 119,914,207	E76G	unknown	Het
Rad54l	A	G	4: 116,111,189		probably null	Het
Rasgrf2	T	C	13: 92,131,446	M17V	probably benign	Het
Rbm42	A	G	7: 30,641,313	M411T	unknown	Het
Reln	A	G	5: 22,051,361	I495T	probably benign	Het
Rnf224	A	G	2: 25,235,942	F133S	probably damaging	Het
Rrm1	C	A	7: 102,446,702	H87Q	probably damaging	Het
Sec14l2	T	C	11: 4,103,962	D235G	possibly damaging	Het
Serpinb3d	G	T	1: 107,080,753	N127K	probably benign	Het
Skint7	A	T	4: 111,980,293	E89D	probably benign	Het
Slc22a5	T	G	11: 53,891,370	N57T	probably damaging	Het
Smarcd3	A	T	5: 24,594,984	F263I	probably damaging	Het
Sncaip	A	G	18: 52,868,604	I66V	probably damaging	Het
Syngr1	A	C	15: 80,115,590		probably benign	Het
Tbc1d2	A	G	4: 46,614,420	Y554H	probably benign	Het
Tmem198	T	C	1: 75,479,743	V44A	probably benign	Het
Trappc11	T	C	8: 47,512,285		probably null	Het
Uox	C	T	3: 146,624,577	R163*	probably null	Het
Vmn2r111	C	T	17: 22,548,602	C638Y	probably damaging	Het
Washc4	A	G	10: 83,574,444	Y632C	probably damaging	Het
Zfp212	T	C	6: 47,930,897	V270A	probably benign	Het
Zfp92	G	A	X: 73,421,968	R189H	possibly damaging	Homo

Other mutations in Ccdc191

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01629:Ccdc191	APN	16	43959300	missense	possibly damaging	0.81
IGL02272:Ccdc191	APN	16	43960022	missense	possibly damaging	0.85
IGL02473:Ccdc191	APN	16	43956894	missense	probably benign	0.03
IGL02660:Ccdc191	APN	16	43960099	missense	probably benign	0.11
LCD18:Ccdc191	UTSW	16	43921801	intron	probably benign
R0238:Ccdc191	UTSW	16	43947496	nonsense	probably null
R0238:Ccdc191	UTSW	16	43947496	nonsense	probably null
R0346:Ccdc191	UTSW	16	43938952	missense	probably damaging	0.99
R0590:Ccdc191	UTSW	16	43931341	nonsense	probably null
R0907:Ccdc191	UTSW	16	43915538	missense	probably benign	0.03
R0930:Ccdc191	UTSW	16	43931255	missense	probably damaging	1.00
R1761:Ccdc191	UTSW	16	43943510	missense	probably benign	0.01
R2127:Ccdc191	UTSW	16	43908635	missense	probably benign	0.00
R2408:Ccdc191	UTSW	16	43931198	missense	probably benign	0.08
R2567:Ccdc191	UTSW	16	43943967	splice site	probably null
R3104:Ccdc191	UTSW	16	43931210	missense	probably damaging	1.00
R3105:Ccdc191	UTSW	16	43931210	missense	probably damaging	1.00
R3106:Ccdc191	UTSW	16	43931210	missense	probably damaging	1.00
R4319:Ccdc191	UTSW	16	43947509	missense	probably damaging	1.00
R4320:Ccdc191	UTSW	16	43947509	missense	probably damaging	1.00
R4323:Ccdc191	UTSW	16	43947509	missense	probably damaging	1.00
R4324:Ccdc191	UTSW	16	43947509	missense	probably damaging	1.00
R4667:Ccdc191	UTSW	16	43931283	missense	probably damaging	1.00
R4676:Ccdc191	UTSW	16	43939173	splice site	probably benign
R4788:Ccdc191	UTSW	16	43956822	missense	probably damaging	1.00
R4976:Ccdc191	UTSW	16	43943505	missense	probably benign	0.17
R5557:Ccdc191	UTSW	16	43908613	missense	probably damaging	1.00
R7459:Ccdc191	UTSW	16	43947457	nonsense	probably null
R7543:Ccdc191	UTSW	16	43898209	nonsense	probably null
R7843:Ccdc191	UTSW	16	43959336	missense	probably damaging	1.00
R8077:Ccdc191	UTSW	16	43915605	critical splice donor site	probably null
R8474:Ccdc191	UTSW	16	43889899	start gained	probably benign
R8984:Ccdc191	UTSW	16	43890218	intron	probably benign
R8987:Ccdc191	UTSW	16	43931347	missense	probably benign	0.29
R9108:Ccdc191	UTSW	16	43898149	missense	possibly damaging	0.92
R9222:Ccdc191	UTSW	16	43905468	missense	probably damaging	1.00
R9276:Ccdc191	UTSW	16	43943678	nonsense	probably null
R9448:Ccdc191	UTSW	16	43938975	missense
R9507:Ccdc191	UTSW	16	43943829	missense	probably damaging	0.99
R9757:Ccdc191	UTSW	16	43941807	missense
Z1177:Ccdc191	UTSW	16	43939122	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- ATTAAAGCACCTACTGGGCTG -3'
(R):5'- CATCTCTGATGGAATGTCCTGTC -3'

Sequencing Primer
(F):5'- CACCTACTGGGCTGTTTGTCAAAG -3'
(R):5'- GTCATTCATGCTACAGGATGC -3'

Posted On

2018-04-27