Mutagenetix > Incidental Mutation

Incidental Mutation 'R3106:Ccdc191'

263082

Institutional Source

Beutler Lab

Gene Symbol

Ccdc191

Ensembl Gene

ENSMUSG00000022701

Gene Name

coiled-coil domain containing 191

Synonyms

2610015P09Rik

MMRRC Submission

040580-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R3106 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43889800-43964314 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43931210 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 301 (F301S)

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 damaging
Transcript: ENSMUST00000132859
AA Change: F243S

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

SMART Domains

Protein: ENSMUSP00000116078
Gene: ENSMUSG00000022701
AA Change: F243S

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 damaging
Transcript: ENSMUST00000178400
AA Change: F301S

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

SMART Domains

Protein: ENSMUSP00000137597
Gene: ENSMUSG00000022701
AA Change: F301S

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

0.4927

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	T	7: 120,396,633	E1331V	possibly damaging	Het
Adam22	A	G	5: 8,117,583		probably null	Het
Adamts17	T	A	7: 67,125,072	S980T	probably damaging	Het
Adarb1	C	A	10: 77,321,757	K285N	probably damaging	Het
Atp5c1	A	G	2: 10,063,465	S160P	probably benign	Het
Baz2a	AGCGGCGGTACTTGCGGG	AG	10: 128,125,077		probably null	Het
Btf3	T	G	13: 98,310,988	E145D	probably benign	Het
Ccdc184	G	T	15: 98,168,601	A96S	probably damaging	Het
Ceacam5	T	C	7: 17,747,323	Y332H	probably benign	Het
Clip2	T	C	5: 134,523,064	K68R	probably benign	Het
Cntln	C	T	4: 84,957,169	T280M	possibly damaging	Het
Col6a3	T	C	1: 90,816,302	R515G	probably damaging	Het
Ctnnal1	G	A	4: 56,813,246	L662F	probably benign	Het
Dennd3	C	A	15: 73,565,124	S118*	probably null	Het
Dgkg	T	A	16: 22,575,341	T321S	probably damaging	Het
Dzip1l	A	T	9: 99,642,572	K249*	probably null	Het
Dzip1l	A	G	9: 99,647,121	E301G	probably benign	Het
Emc10	G	A	7: 44,493,192	R109W	probably damaging	Het
Ezh1	A	C	11: 101,195,642	C575W	probably damaging	Het
Fam187b	A	G	7: 30,977,240	D58G	probably benign	Het
Galnt4	T	C	10: 99,109,381	Y323H	probably benign	Het
Gm13119	T	C	4: 144,361,676	V14A	probably benign	Het
Grm1	A	G	10: 11,079,857	S228P	probably benign	Het
Hist1h1c	G	T	13: 23,738,900	A18S	unknown	Het
Hnf4g	T	G	3: 3,652,856	S388R	probably benign	Het
Il1rap	A	G	16: 26,722,752	E581G	probably benign	Het
Lemd2	C	A	17: 27,201,670	L256F	probably damaging	Het
Mnd1	C	A	3: 84,134,109	C62F	probably benign	Het
Nphs1	C	A	7: 30,467,540	S724*	probably null	Het
Olfr1136	T	C	2: 87,693,505	I126V	probably damaging	Het
Olfr1284	A	G	2: 111,379,495	N165S	probably benign	Het
Osgep	T	C	14: 50,916,829	T225A	probably benign	Het
Pan3	T	C	5: 147,539,379		probably benign	Het
Pld3	A	G	7: 27,535,787		probably null	Het
Plekha7	C	T	7: 116,164,404	R321K	probably benign	Het
Plekhg5	C	T	4: 152,112,178	T694M	probably damaging	Het
Ptpn20	A	G	14: 33,612,296	I44V	probably benign	Het
Ptprj	T	A	2: 90,440,631	H1251L	probably damaging	Het
Sbspon	T	C	1: 15,892,582	E24G	probably benign	Het
Sfmbt1	G	A	14: 30,817,796	C847Y	probably damaging	Het
Sparcl1	T	C	5: 104,093,337	T74A	probably benign	Het
Sppl2b	A	G	10: 80,867,491	E529G	probably benign	Het
Stradb	C	A	1: 58,992,291	H212Q	possibly damaging	Het
Tkfc	G	T	19: 10,596,993	C198*	probably null	Het
Tm4sf4	C	T	3: 57,437,622	R150C	possibly damaging	Het
Tmem212	T	C	3: 27,884,870	S156G	probably damaging	Het
Tmem51	T	C	4: 142,037,724	N8D	probably damaging	Het
Tmigd1	A	G	11: 76,910,298	T204A	possibly damaging	Het
Trp53bp1	A	G	2: 121,236,652	L531S	probably damaging	Het
Tsga10	G	A	1: 37,801,791	L445F	probably damaging	Het
Urb1	C	T	16: 90,795,443	V310I	probably damaging	Het
Vmn2r-ps159	T	A	4: 156,333,435		noncoding transcript	Het
Wdr19	T	C	5: 65,202,623	S24P	probably benign	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
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
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'- TGAAAGAATTGAGCTTTGGTCC -3'
(R):5'- GGGAAGCTGCCCTTGATATGTAC -3'

Sequencing Primer
(F):5'- AGAATTGAGCTTTGGTCCATTCC -3'
(R):5'- TGCCCTTGATATGTACACCAGAAGG -3'

Posted On

2015-02-05