Mutagenetix > Incidental Mutation

Incidental Mutation 'LCD18:Ccdc191'

478228

Institutional Source

Beutler Lab

Gene Symbol

Ccdc191

Ensembl Gene

ENSMUSG00000022701

Gene Name

coiled-coil domain containing 191

Synonyms

2610015P09Rik

Accession Numbers

Essential gene?

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

Stock #

LCD18 (G1)

Quality Score

999

Status

Validated

Chromosome

Chromosomal Location

43889800-43964314 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

G to A at 43921801 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000116078
Gene: ENSMUSG00000022701

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

SMART Domains

Protein: ENSMUSP00000137597
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
coiled coil region	529	562	N/A	INTRINSIC
coiled coil region	626	699	N/A	INTRINSIC

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

88% (169/191)

Allele List at MGI

Other mutations in this stock

Total: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700007G11Rik	G	A	5: 98,707,508 (GRCm38)		probably benign	Het
4930548H24Rik	GAGAAG	GAG	5: 31,487,373 (GRCm38)		probably benign	Het
9530077C05Rik	N		9: 22,442,083 (GRCm38)		probably benign	Het
A330008L17Rik	A	G	8: 99,723,425 (GRCm38)		noncoding transcript	Het
Aaed1	G	A	13: 64,287,285 (GRCm38)		probably benign	Het
Aff2	C	A	X: 69,747,535 (GRCm38)		probably benign	Het
Aldh1a1	C	A	19: 20,626,646 (GRCm38)		probably benign	Het
Anxa7	C	T	14: 20,469,411 (GRCm38)	G113E	probably damaging	Het
Apba2	A	T	7: 64,622,160 (GRCm38)		probably benign	Het
Apc2	G	C	10: 80,299,974 (GRCm38)		probably benign	Het
App	C	G	16: 85,025,412 (GRCm38)		probably benign	Het
Asic2	C	A	11: 80,985,744 (GRCm38)		probably benign	Het
Btk	T	C	X: 134,578,825 (GRCm38)		probably benign	Het
C530008M17Rik	GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	5: 76,658,742 (GRCm38)		probably benign	Het
Car12	C	A	9: 66,761,676 (GRCm38)		probably benign	Het
Ccdc34	N		2: 110,016,318 (GRCm38)		probably benign	Het
Cd164	G	T	10: 41,521,926 (GRCm38)	A59S	probably benign	Het
Cd22	C	T	7: 30,878,082 (GRCm38)	R2H	possibly damaging	Het
Cdv3	A	T	9: 103,365,343 (GRCm38)		probably benign	Het
Cdv3	C	A	9: 103,365,354 (GRCm38)		probably benign	Het
Celf2	N		2: 6,779,076 (GRCm38)		probably benign	Het
Clec18a	C	A	8: 111,076,136 (GRCm38)		probably benign	Het
Cnpy3	GGATGGAT	GGATAGATAGATAGATAGATGGAT	17: 46,737,536 (GRCm38)		probably benign	Het
Cntn4	A	G	6: 106,553,940 (GRCm38)		probably benign	Het
Cntnap5c	G	C	17: 58,162,160 (GRCm38)		probably benign	Het
Col2a1	C	A	15: 97,988,981 (GRCm38)		probably null	Het
Cpne3	G	T	4: 19,563,382 (GRCm38)		probably benign	Het
Dab1	T	G	4: 104,046,572 (GRCm38)		probably benign	Het
Dapp1	G	A	3: 137,939,400 (GRCm38)		probably benign	Het
Dcc	G	A	18: 72,297,447 (GRCm38)		probably benign	Het
Dcun1d1	GAAAAAAAAA	GAAAAAAAAAA	3: 35,938,005 (GRCm38)		probably benign	Het
Dennd1b	G	A	1: 139,114,764 (GRCm38)		probably benign	Het
Dhdds	TAA	TA	4: 133,970,363 (GRCm38)		probably benign	Het
Dnah12	G	T	14: 26,849,385 (GRCm38)	G2817V	probably damaging	Het
Dnm3	CATATATATATATATATATATATA	CATATATATATATATATATATA	1: 162,406,561 (GRCm38)		probably benign	Het
Dock10	N		1: 80,716,623 (GRCm38)		probably benign	Het
Dusp10	G	T	1: 184,037,056 (GRCm38)	C73F	probably damaging	Het
Fgf20	A	C	8: 40,292,318 (GRCm38)		probably benign	Het
Ftsj3	G	T	11: 106,250,059 (GRCm38)		probably benign	Het
Gls	T	G	1: 52,183,367 (GRCm38)		probably benign	Het
Gm12130	T	C	11: 38,506,923 (GRCm38)		noncoding transcript	Het
Gm12394	T	C	4: 42,792,885 (GRCm38)	T416A	probably benign	Het
Gm14936	G	A	X: 112,998,750 (GRCm38)		noncoding transcript	Het
Gm16630	C	T	6: 48,141,269 (GRCm38)		noncoding transcript	Het
Gm22194	AGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	10: 11,940,963 (GRCm38)		noncoding transcript	Het
Gm26917	C	G	17: 39,843,971 (GRCm38)		noncoding transcript	Het
Gm35048	GACACACACACACACACACACACACACACACACACACAC	GACACACACACACACACACACACACACACACACACAC	1: 90,521,526 (GRCm38)		noncoding transcript	Het
Gm37311	G	A	16: 77,618,281 (GRCm38)		noncoding transcript	Het
Gm37928	AACACACACACACACACACACACACACACACACA	AACACACACACACACACACACACACACACACACACA	3: 118,534,557 (GRCm38)		noncoding transcript	Het
Gm42418	T	C	17: 39,848,555 (GRCm38)		noncoding transcript	Het
Gm4302	T	C	10: 100,341,444 (GRCm38)	W197R	probably benign	Het
Gm5615	T	C	9: 36,533,553 (GRCm38)		probably benign	Het
H2-Q4	G	A	17: 35,380,405 (GRCm38)	D155N	probably damaging	Het
H2-T23	T	C	17: 36,031,216 (GRCm38)		probably benign	Het
Hgs	CTTTTTTT	CTTTTTT	11: 120,469,578 (GRCm38)		probably benign	Het
Ighv5-9	C	T	12: 113,661,877 (GRCm38)	S82N	probably benign	Het
Il1rap	C	A	16: 26,631,593 (GRCm38)		probably benign	Het
Inhbc	N		10: 127,367,140 (GRCm38)		probably benign	Het
Inpp4b	C	T	8: 81,693,010 (GRCm38)		probably benign	Het
Kars	N		8: 111,993,708 (GRCm38)		probably benign	Het
Kcng4	G	T	8: 119,633,519 (GRCm38)	Y39*	probably null	Het
Kcnh7	A	G	2: 63,049,799 (GRCm38)		probably benign	Het
Klhl1	G	C	14: 96,317,730 (GRCm38)		probably benign	Het
Lrch1	C	T	14: 74,905,021 (GRCm38)		probably benign	Het
Lrp1b	G	C	2: 42,237,562 (GRCm38)		probably benign	Het
Lsm8	G	A	6: 18,854,321 (GRCm38)		probably benign	Het
Lsm8	G	A	6: 18,844,316 (GRCm38)		probably benign	Het
Magi2	T	C	5: 19,954,511 (GRCm38)		probably benign	Het
Marc2	TAGGCAGCCAATCAGAGCACTGCCTCTCAGCGCCAGGCAGCCAATCAGAGCACTGCCTCTCAGCGCCAGGCA	TAGGCAGCCAATCAGAGCACTGCCTCTCAGCGCCAGGCA	1: 184,822,788 (GRCm38)		probably benign	Het
Mef2c	G	A	13: 83,605,823 (GRCm38)		probably benign	Het
Mei4	A	G	9: 82,186,959 (GRCm38)		probably benign	Het
Mid1	T	A	X: 170,005,564 (GRCm38)		probably benign	Het
Mndal	G	C	1: 173,880,218 (GRCm38)		probably benign	Het
Mpped2	C	A	2: 106,721,428 (GRCm38)		probably benign	Het
Mtf1	A	G	4: 124,829,316 (GRCm38)		probably benign	Het
Mxd1	T	C	6: 86,667,406 (GRCm38)		probably benign	Het
Nbea	G	T	3: 55,701,527 (GRCm38)		probably benign	Het
Ncor1	N		11: 62,419,782 (GRCm38)		probably benign	Het
Nox4	A	G	7: 87,243,067 (GRCm38)		probably benign	Het
Ocln	C	T	13: 100,520,567 (GRCm38)		probably benign	Het
Ofcc1	G	A	13: 40,092,967 (GRCm38)		probably benign	Het
Olfr313	T	A	11: 58,817,440 (GRCm38)	V144D	possibly damaging	Het
Paics	N		5: 76,956,744 (GRCm38)		probably null	Het
Paqr8	G	T	1: 20,914,658 (GRCm38)		probably benign	Het
Pdss1	C	T	2: 22,900,968 (GRCm38)		probably benign	Het
Piezo1	G	A	8: 122,495,569 (GRCm38)	R503W	probably damaging	Het
Pkhd1	G	A	1: 20,611,414 (GRCm38)		probably benign	Het
Ppp1r3f	C	A	X: 7,560,336 (GRCm38)	G562V	probably damaging	Het
Prr16	C	T	18: 51,200,324 (GRCm38)		probably benign	Het
Prss38	T	G	11: 59,375,641 (GRCm38)		probably benign	Het
Ptprk	T	C	10: 28,574,987 (GRCm38)		probably benign	Het
Pum1	N		4: 130,730,549 (GRCm38)		probably benign	Het
Rabgef1	N		5: 130,187,586 (GRCm38)		probably null	Het
Rgs16	G	A	1: 153,744,230 (GRCm38)		probably benign	Het
Riok3	G	T	18: 12,129,982 (GRCm38)		probably benign	Het
Robo2	N		16: 74,055,954 (GRCm38)		probably benign	Het
Rps6ka3	A	G	X: 159,279,215 (GRCm38)		probably benign	Het
Rptn	T	A	3: 93,397,541 (GRCm38)	L727Q	probably benign	Het
Slc25a46	C	A	18: 31,597,313 (GRCm38)		probably benign	Het
Spsb1	C	T	4: 149,952,486 (GRCm38)		probably benign	Het
Tbc1d19	A	C	5: 53,816,709 (GRCm38)		probably benign	Het
Trav7-4	C	T	14: 53,461,518 (GRCm38)	L41F	probably benign	Het
Trip12	N		1: 84,754,482 (GRCm38)		probably benign	Het
Ttc13	G	A	8: 124,675,866 (GRCm38)		probably benign	Het
Ttll6	C	T	11: 96,155,258 (GRCm38)		probably benign	Het
Unc5b	C	G	10: 60,786,171 (GRCm38)		probably benign	Het
Vmn2r87	C	T	10: 130,478,714 (GRCm38)	M334I	probably benign	Het
Vps13b	G	T	15: 35,846,957 (GRCm38)	A2629S	probably damaging	Het
Wars2	N		3: 99,214,774 (GRCm38)		probably null	Het
Zdhhc3	AACACACACACACACACACACACACACACACAC	AACACACACACACACACACACACACACACACACAC	9: 123,083,022 (GRCm38)		probably benign	Het
Zfp26	C	A	9: 20,438,546 (GRCm38)	A241S	probably benign	Het
Zfp442	C	T	2: 150,419,848 (GRCm38)		probably benign	Het
Zfp808	C	T	13: 62,166,651 (GRCm38)		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
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
R1761:Ccdc191	UTSW	16	43,943,510 (GRCm38)	missense	probably benign	0.01
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'- ATGATGTGGACCTTAATCCTCTTTC -3'
(R):5'- CCTGAATGCATGCTAACAGC -3'

Sequencing Primer
(F):5'- GTGGACCTTAATCCTCTTTCAATTTC -3'
(R):5'- GTTAATTGTGTGGCCACCAGCAC -3'

Posted On

2017-05-26