Mutagenetix > Incidental Mutation

Incidental Mutation 'R9108:Ccdc191'

692103

Institutional Source

Beutler Lab

Gene Symbol

Ccdc191

Ensembl Gene

ENSMUSG00000022701

Gene Name

coiled-coil domain containing 191

Synonyms

2610015P09Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.218) question?

Stock #

R9108 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43889800-43964314 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43898149 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 36 (D36E)

Ref Sequence

ENSEMBL: ENSMUSP00000137597 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000132859] [ENSMUST00000151183] [ENSMUST00000178400]

AlphaFold

J3QQ27

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

probably benign
Transcript: ENSMUST00000151183

Predicted Effect

possibly damaging
Transcript: ENSMUST00000178400
AA Change: D36E

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000137597
Gene: ENSMUSG00000022701
AA Change: D36E

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	G	A	18: 6,638,794	V398M	probably benign	Het
4930568D16Rik	G	A	2: 35,354,930	P137S	probably damaging	Het
Abcb9	T	C	5: 124,090,113	T22A	possibly damaging	Het
Abcg8	A	C	17: 84,692,815	I268L	probably benign	Het
Acvrl1	A	G	15: 101,141,157	Q445R	probably damaging	Het
Adam17	T	C	12: 21,330,131	N625D	probably benign	Het
Adamts9	C	T	6: 92,880,740	V856M	probably damaging	Het
Adar	T	C	3: 89,736,167	C452R	probably damaging	Het
Adgra3	G	T	5: 49,978,953	A730D	probably damaging	Het
Adnp2	C	T	18: 80,142,710	R16Q	probably damaging	Het
Aox2	T	C	1: 58,282,692	C48R	probably damaging	Het
Cabin1	T	C	10: 75,657,139	E1774G	possibly damaging	Het
Capsl	A	T	15: 9,465,824	I199F	possibly damaging	Het
Ccdc144b	T	G	3: 36,025,887	*240C	probably null	Het
Cep170	T	A	1: 176,788,485	K86*	probably null	Het
Cnnm1	T	C	19: 43,476,210	F736S	possibly damaging	Het
Col11a2	T	A	17: 34,057,660	V532E	probably benign	Het
Dnmt3l	T	C	10: 78,056,922		probably null	Het
Dync1h1	T	A	12: 110,656,272		probably benign	Het
Dzank1	C	A	2: 144,522,471	V69L	probably benign	Het
Epor	T	G	9: 21,959,579	E335A	probably damaging	Het
Fbxo46	A	T	7: 19,136,383	Y309F	probably damaging	Het
Fra10ac1	A	T	19: 38,214,331		probably benign	Het
Gid8	G	T	2: 180,710,339		probably benign	Het
Gm14124	T	A	2: 150,268,049	C220S	possibly damaging	Het
Gnptab	C	T	10: 88,433,538	S701L		Het
Ifnl3	T	C	7: 28,524,279	L180P	probably benign	Het
Ikzf2	T	A	1: 69,538,797	I518F	probably damaging	Het
Ildr1	A	G	16: 36,715,557	T145A	probably benign	Het
Kiss1r	A	T	10: 79,918,502		probably benign	Het
Lhpp	A	G	7: 132,650,289	D219G	probably damaging	Het
Lrp1	A	T	10: 127,554,337	M3071K	probably damaging	Het
Map6	T	C	7: 99,336,896	L872P	probably damaging	Het
Mgst2	T	A	3: 51,681,812	L82Q	probably damaging	Het
Mier2	A	T	10: 79,541,922	V399E	probably benign	Het
Nms	T	C	1: 38,946,066	V91A	possibly damaging	Het
Nt5dc2	T	A	14: 31,135,059	Y145*	probably null	Het
Olfml2a	A	T	2: 38,941,741	M111L	probably benign	Het
Olfr487	T	C	7: 108,211,639	N297D	probably damaging	Het
Olfr501-ps1	T	A	7: 108,508,572	L172Q	unknown	Het
Plod3	T	C	5: 136,989,163	I221T	probably damaging	Het
Polm	T	C	11: 5,829,872	Q342R	probably benign	Het
Ppp2r5c	A	T	12: 110,554,869	L275F	probably damaging	Het
Prdm12	C	T	2: 31,643,917	T182M	possibly damaging	Het
Rasgrp2	G	A	19: 6,408,860	V440M	probably damaging	Het
Rnf111	C	T	9: 70,429,564	G947D	probably damaging	Het
Runx3	A	T	4: 135,155,381	M143L	probably damaging	Het
Samd9l	T	C	6: 3,373,104	S1386G	possibly damaging	Het
Saxo2	C	T	7: 82,634,874	V259I	probably benign	Het
Shroom3	T	C	5: 92,940,116	S242P	probably damaging	Het
Slc35e1	G	A	8: 72,492,186	P134L		Het
Spata31d1a	A	G	13: 59,703,168	V382A	probably benign	Het
Tanc2	T	A	11: 105,919,754		probably benign	Het
Tenm3	A	T	8: 48,313,236		probably null	Het
Trip10	C	T	17: 57,253,519	A123V	probably damaging	Het
Trmt13	A	G	3: 116,581,480	S460P	probably damaging	Het
Trpd52l3	A	G	19: 30,003,929	N28S	probably benign	Het
Tubb4a	A	G	17: 57,081,232	F265L	probably benign	Het
Uba6	A	T	5: 86,135,075	C581S	possibly damaging	Het
Uckl1	A	G	2: 181,569,500	V512A	probably damaging	Het
Usp34	A	T	11: 23,370,528	M957L		Het
Vmn2r57	T	C	7: 41,428,768	I89V	possibly damaging	Het
Zfp322a	T	C	13: 23,357,267	I102V	probably benign	Het
Zzef1	A	G	11: 72,899,778	D2186G	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
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
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
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'- TTGGCCAATTGCTGCAATTAAC -3'
(R):5'- GGATAAGAGCAGCTTTCACTCC -3'

Sequencing Primer
(F):5'- TTGTTCAGTGTCAACAAAAGGG -3'
(R):5'- CACTCCGTGCTTTGCAGTGAG -3'

Posted On

2021-12-30