Mutagenetix > Incidental Mutation

Incidental Mutation 'R4323:Ccdc191'

323927

Institutional Source

Beutler Lab

Gene Symbol

Ccdc191

Ensembl Gene

ENSMUSG00000022701

Gene Name

coiled-coil domain containing 191

Synonyms

2610015P09Rik

MMRRC Submission

041094-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.294) question?

Stock #

R4323 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43889800-43964314 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43947509 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 624 (E624G)

Ref Sequence

ENSEMBL: ENSMUSP00000116078 (fasta)

Gene Model

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

AlphaFold

J3QQ27

Predicted Effect

probably damaging
Transcript: ENSMUST00000122440
AA Change: E267G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113814
Gene: ENSMUSG00000022701
AA Change: E267G

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 damaging
Transcript: ENSMUST00000132859
AA Change: E624G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000116078
Gene: ENSMUSG00000022701
AA Change: E624G

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 damaging
Transcript: ENSMUST00000178400
AA Change: E682G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000137597
Gene: ENSMUSG00000022701
AA Change: E682G

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

0.1055

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

95% (59/62)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	A	G	4: 62,547,311	Y414C	probably damaging	Het
Akr1b3	T	C	6: 34,310,927	T166A	probably benign	Het
Ankhd1	C	T	18: 36,578,633	S94L	probably damaging	Het
B4galt3	G	T	1: 171,275,942	M68I	possibly damaging	Het
Bpnt1	A	C	1: 185,356,589	H312P	probably benign	Het
Ccdc178	T	A	18: 22,033,543	K530*	probably null	Het
Clasp2	T	C	9: 113,889,959	V724A	possibly damaging	Het
Copa	G	T	1: 172,119,264	C1022F	probably damaging	Het
Cwf19l2	T	G	9: 3,430,452	F261L	probably damaging	Het
Esr1	G	A	10: 5,001,307	V562M	possibly damaging	Het
Fap	T	C	2: 62,503,372	H643R	probably damaging	Het
Fbxo38	T	A	18: 62,515,161	M769L	probably benign	Het
Fgfr1	A	G	8: 25,573,899	N814S	probably benign	Het
Gm15448	A	G	7: 3,822,755	S372P	possibly damaging	Het
Hipk3	C	A	2: 104,446,571	V388L	probably damaging	Het
Hspa1l	T	A	17: 34,977,856	Y290*	probably null	Het
Itsn1	G	A	16: 91,818,552		probably benign	Het
Jam2	T	C	16: 84,822,856		probably benign	Het
Kprp	G	A	3: 92,824,856	R296W	probably damaging	Het
Med23	T	C	10: 24,870,705	I14T	probably benign	Het
Mitf	A	G	6: 97,991,949	Y10C	probably benign	Het
Mpo	T	C	11: 87,796,039	S165P	probably damaging	Het
Neb	T	G	2: 52,264,110	M2330L	possibly damaging	Het
Nup214	T	C	2: 31,994,684	S486P	probably benign	Het
Olfr1392	G	A	11: 49,293,676	M118I	probably damaging	Het
Parp6	G	A	9: 59,630,686	V205I	possibly damaging	Het
Pate2	A	T	9: 35,670,471		probably benign	Het
Pdss1	T	C	2: 22,912,596		probably benign	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Sept1	G	A	7: 127,217,028	P77S	probably damaging	Het
Slitrk3	A	G	3: 73,050,785	L218P	probably damaging	Het
Sltm	T	C	9: 70,580,247	I521T	probably benign	Het
Smchd1	A	G	17: 71,428,275	I618T	probably benign	Het
Sox6	A	G	7: 115,580,563		probably null	Het
Sp8	A	G	12: 118,848,436	I9V	probably benign	Het
Usp9y	T	A	Y: 1,434,407	M352L	possibly damaging	Het
Vmn1r46	T	C	6: 89,976,367	M66T	probably benign	Het
Vmn2r111	A	T	17: 22,573,178	N32K	probably benign	Het
Vmn2r63	A	G	7: 42,926,982	F469S	probably benign	Het
Vps13d	T	A	4: 145,152,778	T1486S	probably benign	Het
Wdr55	A	G	18: 36,763,100	N281S	probably benign	Het
Zswim6	G	A	13: 107,889,403		noncoding transcript	Het

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
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
R6369:Ccdc191	UTSW	16	43915485	missense	probably benign	0.05
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'- ATACTTTGCTGCCTCAGGACC -3'
(R):5'- GTAAGGTCCTATCTTTTCAACTAGC -3'

Sequencing Primer
(F):5'- TGCTGCCTCAGGACCAAAGAC -3'
(R):5'- GCATTTAATAACTTGCTTTCCCAG -3'

Posted On

2015-06-24