Mutagenetix > Incidental Mutation

Incidental Mutation 'R1761:Ccdc191'

192808

Institutional Source

Beutler Lab

Gene Symbol

Ccdc191

Ensembl Gene

ENSMUSG00000022701

Gene Name

coiled-coil domain containing 191

Synonyms

2610015P09Rik

MMRRC Submission

039793-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

R1761 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43889800-43964314 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43943510 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 445 (I445V)

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

unknown
Transcript: ENSMUST00000122440
AA Change: I30V

SMART Domains

Protein: ENSMUSP00000113814
Gene: ENSMUSG00000022701
AA Change: I30V

Domain	Start	End	E-Value	Type
coiled coil region	114	147	N/A	INTRINSIC
coiled coil region	211	284	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000132859
AA Change: I387V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000116078
Gene: ENSMUSG00000022701
AA Change: I387V

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: ENSMUST00000145999

Predicted Effect

probably benign
Transcript: ENSMUST00000178400
AA Change: I445V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000137597
Gene: ENSMUSG00000022701
AA Change: I445V

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

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	C	T	16: 56,668,309 (GRCm38)	H1268Y	possibly damaging	Het
Acan	T	A	7: 79,094,085 (GRCm38)	Y621*	probably null	Het
Aig1	T	C	10: 13,690,584 (GRCm38)	Y152C	probably damaging	Het
Arhgap33	C	T	7: 30,533,063 (GRCm38)		probably null	Het
Bcl6	G	T	16: 23,977,542 (GRCm38)	A45D	probably damaging	Het
Cbx5	T	C	15: 103,213,180 (GRCm38)	D10G	possibly damaging	Het
Cdk4	T	A	10: 127,064,677 (GRCm38)		probably benign	Het
Chil6	A	G	3: 106,394,338 (GRCm38)	F149L	probably damaging	Het
Cntn5	T	C	9: 10,172,054 (GRCm38)	T42A	probably benign	Het
Cpn2	A	T	16: 30,260,196 (GRCm38)	I229N	probably damaging	Het
Cpne8	A	G	15: 90,648,618 (GRCm38)	V62A	probably damaging	Het
Cr2	A	G	1: 195,155,123 (GRCm38)		probably null	Het
Crnn	A	T	3: 93,148,651 (GRCm38)	H248L	probably benign	Het
Csn1s1	A	G	5: 87,679,035 (GRCm38)	S254G	probably benign	Het
Cubn	A	G	2: 13,489,317 (GRCm38)		probably null	Het
Dnah8	A	G	17: 30,779,916 (GRCm38)	N3525S	probably damaging	Het
Dpp3	A	G	19: 4,921,149 (GRCm38)	L220P	probably benign	Het
Fam110a	T	C	2: 151,970,205 (GRCm38)	E215G	probably benign	Het
Fam20a	A	T	11: 109,677,838 (GRCm38)	N287K	probably damaging	Het
Fat4	T	C	3: 38,887,489 (GRCm38)	V177A	possibly damaging	Het
Fzd8	C	T	18: 9,213,643 (GRCm38)	R242C	probably damaging	Het
Gimap5	A	T	6: 48,753,261 (GRCm38)	Q255L	probably damaging	Het
Gm4787	A	G	12: 81,377,176 (GRCm38)	L736S	probably benign	Het
Gmeb1	G	A	4: 132,234,887 (GRCm38)	Q154*	probably null	Het
Gpr156	T	C	16: 37,987,567 (GRCm38)	L192P	probably damaging	Het
Gpr179	A	C	11: 97,335,106 (GRCm38)	S2074R	probably benign	Het
Hddc2	G	T	10: 31,326,139 (GRCm38)	D161Y	probably damaging	Het
Hlcs	T	C	16: 94,268,007 (GRCm38)	D265G	probably benign	Het
Hspg2	A	T	4: 137,514,673 (GRCm38)	I573F	possibly damaging	Het
Il1b	T	C	2: 129,365,181 (GRCm38)	K220E	probably damaging	Het
Il5	T	C	11: 53,723,730 (GRCm38)	I66T	probably damaging	Het
Irf6	G	A	1: 193,169,301 (GRCm38)	R400H	probably damaging	Het
Klra1	A	T	6: 130,372,873 (GRCm38)	Y201N	probably damaging	Het
Lmf2	A	G	15: 89,352,713 (GRCm38)	V442A	possibly damaging	Het
Mcm2	T	C	6: 88,889,788 (GRCm38)	I412M	possibly damaging	Het
Mlkl	T	A	8: 111,333,723 (GRCm38)	L18F	possibly damaging	Het
Mug2	C	A	6: 122,074,705 (GRCm38)	H949N	probably benign	Het
Nf1	T	C	11: 79,384,265 (GRCm38)	F51L	probably damaging	Het
Or52j3	T	G	7: 103,187,118 (GRCm38)	C172W	probably damaging	Het
Or7d10	A	T	9: 19,921,149 (GRCm38)	*313C	probably null	Het
Or8k18	T	G	2: 86,255,039 (GRCm38)	Y218S	probably damaging	Het
P3h2	T	C	16: 25,985,050 (GRCm38)	E322G	probably damaging	Het
Pramel21	T	C	4: 143,615,868 (GRCm38)	Y182H	probably benign	Het
Psmg2	CTTCAGTT	CTTCAGTTCAGTT	18: 67,646,025 (GRCm38)		probably null	Het
Ptdss1	T	C	13: 66,956,412 (GRCm38)	V116A	possibly damaging	Het
Ranbp2	T	C	10: 58,485,741 (GRCm38)	V2620A	probably benign	Het
Robo2	A	G	16: 74,035,024 (GRCm38)	V256A	probably damaging	Het
Scg3	T	A	9: 75,676,758 (GRCm38)	I154F	probably damaging	Het
Scgn	A	T	13: 23,959,706 (GRCm38)	F225Y	probably damaging	Het
Sec61b	T	C	4: 47,480,137 (GRCm38)	C58R	possibly damaging	Het
Slc25a46	G	T	18: 31,607,262 (GRCm38)	Q96K	possibly damaging	Het
Spmip6	G	A	4: 41,507,223 (GRCm38)	P109L	probably damaging	Het
Sptb	A	G	12: 76,612,608 (GRCm38)	F1173L	probably damaging	Het
Srcap	T	A	7: 127,534,845 (GRCm38)	C893S	probably damaging	Het
Tet3	T	C	6: 83,403,659 (GRCm38)	E509G	probably damaging	Het
Timm10b	C	T	7: 105,683,708 (GRCm38)	R897*	probably null	Het
Tln2	C	T	9: 67,286,514 (GRCm38)	A1773T	probably benign	Het
Tom1	T	C	8: 75,051,551 (GRCm38)	V87A	probably benign	Het
Tti1	T	C	2: 158,007,697 (GRCm38)	I541V	probably benign	Het
Ttn	A	T	2: 76,811,243 (GRCm38)	L5176Q	possibly damaging	Het
Tubb1	A	G	2: 174,456,896 (GRCm38)	S124G	probably benign	Het
Vgll3	A	T	16: 65,839,728 (GRCm38)	D310V	probably damaging	Het
Vmac	A	G	17: 56,715,788 (GRCm38)	L74P	probably damaging	Het
Zbtb1	A	T	12: 76,385,821 (GRCm38)	K194*	probably null	Het
Zfp429	A	G	13: 67,396,076 (GRCm38)	M76T	probably benign	Het
Zfp808	T	A	13: 62,171,646 (GRCm38)	C230S	possibly damaging	Het
Zfp980	A	G	4: 145,702,042 (GRCm38)	Y447C	probably damaging	Het
Zfp985	A	G	4: 147,584,045 (GRCm38)	T457A	probably benign	Het

Other mutations in Ccdc191

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01629:Ccdc191	APN	16	43,959,300 (GRCm38)	missense	possibly damaging	0.81
IGL02272:Ccdc191	APN	16	43,960,022 (GRCm38)	missense	possibly damaging	0.85
IGL02473:Ccdc191	APN	16	43,956,894 (GRCm38)	missense	probably benign	0.03
IGL02660:Ccdc191	APN	16	43,960,099 (GRCm38)	missense	probably benign	0.11
LCD18:Ccdc191	UTSW	16	43,921,801 (GRCm38)	intron	probably benign
R0238:Ccdc191	UTSW	16	43,947,496 (GRCm38)	nonsense	probably null
R0238:Ccdc191	UTSW	16	43,947,496 (GRCm38)	nonsense	probably null
R0346:Ccdc191	UTSW	16	43,938,952 (GRCm38)	missense	probably damaging	0.99
R0590:Ccdc191	UTSW	16	43,931,341 (GRCm38)	nonsense	probably null
R0907:Ccdc191	UTSW	16	43,915,538 (GRCm38)	missense	probably benign	0.03
R0930:Ccdc191	UTSW	16	43,931,255 (GRCm38)	missense	probably damaging	1.00
R2127:Ccdc191	UTSW	16	43,908,635 (GRCm38)	missense	probably benign	0.00
R2408:Ccdc191	UTSW	16	43,931,198 (GRCm38)	missense	probably benign	0.08
R2567:Ccdc191	UTSW	16	43,943,967 (GRCm38)	splice site	probably null
R3104:Ccdc191	UTSW	16	43,931,210 (GRCm38)	missense	probably damaging	1.00
R3105:Ccdc191	UTSW	16	43,931,210 (GRCm38)	missense	probably damaging	1.00
R3106:Ccdc191	UTSW	16	43,931,210 (GRCm38)	missense	probably damaging	1.00
R4319:Ccdc191	UTSW	16	43,947,509 (GRCm38)	missense	probably damaging	1.00
R4320:Ccdc191	UTSW	16	43,947,509 (GRCm38)	missense	probably damaging	1.00
R4323:Ccdc191	UTSW	16	43,947,509 (GRCm38)	missense	probably damaging	1.00
R4324:Ccdc191	UTSW	16	43,947,509 (GRCm38)	missense	probably damaging	1.00
R4667:Ccdc191	UTSW	16	43,931,283 (GRCm38)	missense	probably damaging	1.00
R4676:Ccdc191	UTSW	16	43,939,173 (GRCm38)	splice site	probably benign
R4788:Ccdc191	UTSW	16	43,956,822 (GRCm38)	missense	probably damaging	1.00
R4976:Ccdc191	UTSW	16	43,943,505 (GRCm38)	missense	probably benign	0.17
R5557:Ccdc191	UTSW	16	43,908,613 (GRCm38)	missense	probably damaging	1.00
R6369:Ccdc191	UTSW	16	43,915,485 (GRCm38)	missense	probably benign	0.05
R7459:Ccdc191	UTSW	16	43,947,457 (GRCm38)	nonsense	probably null
R7543:Ccdc191	UTSW	16	43,898,209 (GRCm38)	nonsense	probably null
R7843:Ccdc191	UTSW	16	43,959,336 (GRCm38)	missense	probably damaging	1.00
R8077:Ccdc191	UTSW	16	43,915,605 (GRCm38)	critical splice donor site	probably null
R8474:Ccdc191	UTSW	16	43,889,899 (GRCm38)	start gained	probably benign
R8984:Ccdc191	UTSW	16	43,890,218 (GRCm38)	intron	probably benign
R8987:Ccdc191	UTSW	16	43,931,347 (GRCm38)	missense	probably benign	0.29
R9108:Ccdc191	UTSW	16	43,898,149 (GRCm38)	missense	possibly damaging	0.92
R9222:Ccdc191	UTSW	16	43,905,468 (GRCm38)	missense	probably damaging	1.00
R9276:Ccdc191	UTSW	16	43,943,678 (GRCm38)	nonsense	probably null
R9448:Ccdc191	UTSW	16	43,938,975 (GRCm38)	missense
R9507:Ccdc191	UTSW	16	43,943,829 (GRCm38)	missense	probably damaging	0.99
R9757:Ccdc191	UTSW	16	43,941,807 (GRCm38)	missense
Z1177:Ccdc191	UTSW	16	43,939,122 (GRCm38)	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- TCTCCCCACTTACACCTGAAGGTAATC -3'
(R):5'- TCACACAAGCAGCTTCTGCCTC -3'

Sequencing Primer
(F):5'- AGGTAATCCCAGTTGTACATTCCG -3'
(R):5'- AGGTCGTTCACAGCTACCAG -3'

Posted On

2014-05-23