Mutagenetix > Incidental Mutation

Incidental Mutation 'R4976:Ccdc191'

482171

Institutional Source

Beutler Lab

Gene Symbol

Ccdc191

Ensembl Gene

ENSMUSG00000022701

Gene Name

coiled-coil domain containing 191

Synonyms

2610015P09Rik

MMRRC Submission

042571-MU

Accession Numbers

Essential gene?

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

Stock #

R4976 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43889800-43964314 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43943505 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 443 (V443A)

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: V28A

SMART Domains

Protein: ENSMUSP00000113814
Gene: ENSMUSG00000022701
AA Change: V28A

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: V385A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000116078
Gene: ENSMUSG00000022701
AA Change: V385A

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: V443A

PolyPhen 2 Score 0.169 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000137597
Gene: ENSMUSG00000022701
AA Change: V443A

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: 99.0%
3x: 98.1%
10x: 95.8%
20x: 90.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921507P07Rik	T	A	6: 50,589,184		probably null	Het
4930486L24Rik	A	T	13: 60,853,573	Y113*	probably null	Het
Abcc2	C	T	19: 43,800,635	T243M	probably benign	Het
Actr6	A	T	10: 89,725,855	L143Q	probably damaging	Het
Adamts18	A	G	8: 113,699,010	Y1207H	probably benign	Het
Adamts2	A	G	11: 50,737,366	I298V	possibly damaging	Het
Adamts6	T	A	13: 104,297,490	S142R	probably damaging	Het
Adat2	A	T	10: 13,556,906	N51Y	probably damaging	Het
Alg6	G	A	4: 99,750,728		probably null	Het
Aoc3	T	A	11: 101,330,974	L12Q	probably damaging	Het
Aox3	G	A	1: 58,188,524		probably null	Het
Atp2b2	T	A	6: 113,759,161	I986F	probably damaging	Het
Axin1	A	T	17: 26,194,070	Q779L	probably benign	Het
Axin1	G	T	17: 26,194,071	Q779H	probably benign	Het
Btaf1	T	C	19: 36,986,579	V850A	probably benign	Het
Camsap2	A	G	1: 136,304,386	V157A	probably damaging	Het
Cd1d1	T	A	3: 86,998,651	M106L	probably benign	Het
Cenpe	A	G	3: 135,234,876	D632G	probably damaging	Het
Cnih2	T	A	19: 5,093,929		probably null	Het
Crnkl1	G	T	2: 145,923,876	Q425K	possibly damaging	Het
Crnn	T	A	3: 93,148,683	S259T	probably benign	Het
Cspp1	T	A	1: 10,126,463	N900K	probably damaging	Het
Ctc1	G	T	11: 69,027,326	G425C	probably damaging	Het
Dctn4	T	A	18: 60,556,392	I445N	probably benign	Het
Dnah7a	A	T	1: 53,698,692	D27E	probably benign	Het
Dock10	A	T	1: 80,567,994		probably null	Het
Dst	A	T	1: 34,195,969	K3710*	probably null	Het
Ecel1	T	A	1: 87,151,139	Y526F	probably benign	Het
Elp6	C	T	9: 110,314,073	P118L	probably damaging	Het
Enpp2	T	A	15: 54,870,305	R420*	probably null	Het
Ep400	A	G	5: 110,698,812	F1480L	unknown	Het
Ep400	T	C	5: 110,720,756	E934G	unknown	Het
Epb41	A	C	4: 131,937,436		probably benign	Het
Epha5	A	T	5: 84,084,824	V777E	probably damaging	Het
Erp44	A	T	4: 48,208,797	M221K	probably benign	Het
Esp36	T	C	17: 38,417,286	T35A	possibly damaging	Het
Flvcr1	T	C	1: 191,025,495	Q158R	probably damaging	Het
Fsip2	A	T	2: 82,988,191	D4756V	probably damaging	Het
Fzd10	T	A	5: 128,602,114	Y299*	probably null	Het
Gabrg1	C	A	5: 70,774,411	V330L	possibly damaging	Het
Gata4	A	T	14: 63,203,689	N87K	probably damaging	Het
Gdpd3	A	T	7: 126,767,282	N97I	probably damaging	Het
Gm28042	G	A	2: 120,034,643	A250T	probably damaging	Het
Gm38394	T	C	1: 133,658,094	T502A	probably benign	Het
Golim4	T	C	3: 75,878,643		probably null	Het
Gpr183	G	T	14: 121,954,863	T82N	possibly damaging	Het
Hsd17b4	T	C	18: 50,160,135	L247S	probably damaging	Het
Hsdl1	T	A	8: 119,565,867	Y203F	possibly damaging	Het
Igkv17-121	A	G	6: 68,037,084	K40R	probably benign	Het
Igsf3	T	A	3: 101,439,361		probably null	Het
Ints1	C	A	5: 139,752,811	G110C	probably damaging	Het
Klhdc8b	A	T	9: 108,451,187	V22E	probably damaging	Het
Kmt2d	G	A	15: 98,847,194		probably benign	Het
Kpna2	C	T	11: 106,991,469	G204S	probably damaging	Het
Ktn1	G	A	14: 47,670,299		probably null	Het
Ldah	G	A	12: 8,227,237	A58T	probably benign	Het
Lmx1a	G	T	1: 167,791,554	A161S	possibly damaging	Het
Lrig1	T	C	6: 94,625,062	Y270C	probably damaging	Het
Lrrc24	T	C	15: 76,716,000	Q313R	probably benign	Het
Ltbp1	T	C	17: 75,321,095		probably null	Het
Luzp1	A	G	4: 136,543,397	D977G	possibly damaging	Het
Mbd4	T	C	6: 115,850,724	T43A	possibly damaging	Het
Meltf	T	C	16: 31,894,714	S592P	probably benign	Het
Mrgpra4	A	G	7: 47,981,718	L45P	probably damaging	Het
Mrpl39	A	G	16: 84,734,405		probably null	Het
Myocd	T	C	11: 65,222,050	T79A	probably benign	Het
Myt1l	A	G	12: 29,832,303	E499G	unknown	Het
Ncan	C	T	8: 70,115,025	E146K	probably damaging	Het
Ncoa3	T	A	2: 166,047,900	D68E	probably damaging	Het
Nt5m	T	A	11: 59,874,555	Y136*	probably null	Het
Olfr1259	A	T	2: 89,943,803	I104N	possibly damaging	Het
Olfr1564	C	T	17: 33,215,754	A200T	probably benign	Het
Olfr490	A	C	7: 108,286,611	C172G	probably damaging	Het
Olfr631	A	T	7: 103,929,737	I305F	probably benign	Het
Olfr836	G	A	9: 19,121,501	C179Y	probably damaging	Het
Pak6	A	T	2: 118,694,548	I552F	probably damaging	Het
Pcyox1	T	A	6: 86,388,726	K502M	probably damaging	Het
Phyhipl	A	T	10: 70,569,074	D56E	probably damaging	Het
Ppp2r2a	A	T	14: 67,016,637	S361T	possibly damaging	Het
Prim1	A	T	10: 128,015,262	D5V	probably damaging	Het
Prl7a1	A	T	13: 27,633,581	H233Q	possibly damaging	Het
Prpf40a	A	G	2: 53,144,849	F776L	probably damaging	Het
Psmb1	T	C	17: 15,498,262	M1V	probably null	Het
Reln	T	A	5: 21,971,870	N1933Y	probably benign	Het
Retsat	T	A	6: 72,601,626	M107K	probably damaging	Het
Rhbdl1	C	T	17: 25,835,028	W289*	probably null	Het
Rlf	G	A	4: 121,147,455	H1443Y	probably damaging	Het
Rpgrip1l	T	C	8: 91,280,816	E382G	probably damaging	Het
Rprd2	T	A	3: 95,766,349	T497S	probably damaging	Het
Rps6kc1	T	C	1: 190,798,727	T936A	probably damaging	Het
Scgb1b10	A	G	7: 32,101,184	Q66R	possibly damaging	Het
Scrib	C	T	15: 76,051,753		probably null	Het
Setbp1	T	A	18: 79,086,712	T102S	probably damaging	Het
Shox2	T	C	3: 66,973,675		probably benign	Het
Skp1a	C	A	11: 52,243,631	T63N	probably benign	Het
Slc10a6	C	T	5: 103,606,604	V354M	probably benign	Het
Slc35f3	T	C	8: 126,389,281		probably null	Het
Slc8b1	T	A	5: 120,525,675	L320*	probably null	Het
Snap29	T	A	16: 17,419,268	L81Q	probably damaging	Het
Sorl1	A	G	9: 41,983,003	I1837T	probably benign	Het
Tacr3	A	G	3: 134,932,272	T397A	probably benign	Het
Tcte1	T	C	17: 45,534,928	F153L	probably damaging	Het
Them7	A	G	2: 105,378,808	T158A	probably benign	Het
Tldc1	A	C	8: 119,768,143	L292R	probably damaging	Het
Tmprss4	A	G	9: 45,173,408	S433P	possibly damaging	Het
Tpcn1	T	C	5: 120,560,322	H45R	probably benign	Het
Uhrf1bp1	T	C	17: 27,884,026	S345P	probably damaging	Het
Vps13d	A	G	4: 145,105,898	S2813P	possibly damaging	Het
Wdfy3	C	T	5: 101,943,119	D532N	probably benign	Het
Zfp277	A	G	12: 40,328,688	V390A	possibly damaging	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
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
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'- TTGTACATTCCGATTGGCTCAGC -3'
(R):5'- CCTCACACAAGCAGCTTCTG -3'

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

Posted On

2017-06-29