Mutagenetix > Incidental Mutation

Incidental Mutation 'R5557:Ccdc191'

435478

Institutional Source

Beutler Lab

Gene Symbol

Ccdc191

Ensembl Gene

ENSMUSG00000022701

Gene Name

coiled-coil domain containing 191

Synonyms

2610015P09Rik

MMRRC Submission

043114-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.201) question?

Stock #

R5557 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43710172-43784677 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 43728976 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 179 (T179P)

Ref Sequence

ENSEMBL: ENSMUSP00000116078 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000122014] [ENSMUST00000132859] [ENSMUST00000151183] [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: T179P

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

SMART Domains

Protein: ENSMUSP00000116078
Gene: ENSMUSG00000022701
AA Change: T179P

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: ENSMUST00000151183

Predicted Effect

probably damaging
Transcript: ENSMUST00000178400
AA Change: T237P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000137597
Gene: ENSMUSG00000022701
AA Change: T237P

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

0.0723

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

Validation Efficiency

100% (72/72)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	T	A	19: 3,767,501 (GRCm39)	F363I	possibly damaging	Het
Abcb1a	T	A	5: 8,764,949 (GRCm39)	N646K	probably benign	Het
Abi2	C	A	1: 60,478,071 (GRCm39)		probably benign	Het
Adamts13	T	C	2: 26,863,651 (GRCm39)	S35P	probably benign	Het
B4galt3	A	G	1: 171,100,089 (GRCm39)		probably null	Het
Bag5	T	C	12: 111,676,524 (GRCm39)	N433S	probably benign	Het
Birc7	T	A	2: 180,574,772 (GRCm39)	V218D	probably benign	Het
Catsperg1	T	G	7: 28,895,296 (GRCm39)	N332T	possibly damaging	Het
Col4a3	C	T	1: 82,692,968 (GRCm39)		probably benign	Het
Crlf1	A	G	8: 70,951,317 (GRCm39)	I65M	probably benign	Het
Dennd4a	T	G	9: 64,811,509 (GRCm39)	D1376E	probably benign	Het
Dennd4b	G	A	3: 90,175,675 (GRCm39)	R148Q	probably damaging	Het
Dlg4	C	T	11: 69,933,106 (GRCm39)	P504L	probably damaging	Het
Dop1b	A	G	16: 93,560,819 (GRCm39)	T886A	probably damaging	Het
Dst	T	A	1: 34,321,667 (GRCm39)	V4394E	probably damaging	Het
Endov	T	C	11: 119,393,186 (GRCm39)	M112T	possibly damaging	Het
Eps8	T	C	6: 137,456,094 (GRCm39)	M796V	possibly damaging	Het
Fam107b	T	A	2: 3,771,791 (GRCm39)	Y7*	probably null	Het
Farsb	C	T	1: 78,445,888 (GRCm39)		probably null	Het
Fasn	A	G	11: 120,703,252 (GRCm39)	M1591T	probably benign	Het
Fbn2	C	T	18: 58,248,731 (GRCm39)	A384T	probably benign	Het
Fnta	T	C	8: 26,489,564 (GRCm39)	D349G	probably damaging	Het
Glis3	G	T	19: 28,241,409 (GRCm39)	H842N	probably benign	Het
Gm17067	G	A	7: 42,357,945 (GRCm39)	P186S	probably damaging	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Hk3	A	T	13: 55,159,888 (GRCm39)	L362*	probably null	Het
Ing3	A	G	6: 21,968,908 (GRCm39)	H130R	possibly damaging	Het
Inpp4b	A	T	8: 82,678,888 (GRCm39)	Q306L	probably damaging	Het
Kcnq2	T	C	2: 180,776,690 (GRCm39)	K66E	probably benign	Het
Kif21b	C	A	1: 136,097,797 (GRCm39)	N1352K	probably damaging	Het
Lrig3	A	T	10: 125,808,003 (GRCm39)	N84Y	probably damaging	Het
Mill2	T	A	7: 18,589,884 (GRCm39)	Y55*	probably null	Het
Mmachc	T	C	4: 116,563,097 (GRCm39)	H86R	probably damaging	Het
Ncbp1	T	C	4: 46,165,259 (GRCm39)	V524A	probably benign	Het
Or10ag54	A	T	2: 87,099,736 (GRCm39)	T204S	possibly damaging	Het
Or1q1	T	A	2: 36,887,358 (GRCm39)	C179S	probably damaging	Het
Or4c102	G	A	2: 88,422,897 (GRCm39)	V250M	probably damaging	Het
Or5af1	G	A	11: 58,722,813 (GRCm39)	V278I	probably benign	Het
Or5b101	C	A	19: 13,005,004 (GRCm39)	A230S	probably benign	Het
Or7g19	T	C	9: 18,856,466 (GRCm39)	I174T	possibly damaging	Het
Pigu	G	T	2: 155,120,549 (GRCm39)	Y404*	probably null	Het
Plaa	A	T	4: 94,472,244 (GRCm39)		probably null	Het
Plcg2	A	T	8: 118,313,296 (GRCm39)	I487F	probably damaging	Het
Plekhh2	T	C	17: 84,867,580 (GRCm39)	I162T	probably benign	Het
Ptprz1	T	A	6: 23,001,000 (GRCm39)	V1030D	probably benign	Het
Raver2	C	A	4: 100,993,336 (GRCm39)	S505R	probably benign	Het
Samd7	A	T	3: 30,810,769 (GRCm39)	Q262L	probably benign	Het
Scn9a	T	A	2: 66,377,447 (GRCm39)	N412Y	probably damaging	Het
Sytl1	C	A	4: 132,986,667 (GRCm39)	R91M	probably damaging	Het
Tead3	A	T	17: 28,555,244 (GRCm39)		probably benign	Het
Tgm1	A	G	14: 55,943,100 (GRCm39)	M580T	probably benign	Het
Themis	A	T	10: 28,657,882 (GRCm39)	Q150L	possibly damaging	Het
Tmem213	T	C	6: 38,086,466 (GRCm39)	S41P	possibly damaging	Het
Tnks1bp1	T	C	2: 84,894,144 (GRCm39)	V695A	probably damaging	Het
Trim23	A	T	13: 104,324,017 (GRCm39)	T159S	probably damaging	Het
Trim66	T	C	7: 109,082,944 (GRCm39)	Y166C	probably benign	Het
Troap	A	T	15: 98,973,675 (GRCm39)	T111S	possibly damaging	Het
Ttn	T	C	2: 76,720,734 (GRCm39)		probably null	Het
Tub	T	G	7: 108,624,925 (GRCm39)	S180A	probably damaging	Het
Vcan	A	G	13: 89,851,231 (GRCm39)	V1243A	possibly damaging	Het
Zfp608	T	C	18: 55,120,942 (GRCm39)	D215G	possibly damaging	Het
Zfp638	T	A	6: 83,944,345 (GRCm39)	V1021E	probably damaging	Het
Zim1	T	A	7: 6,680,710 (GRCm39)	I318F	probably damaging	Het

Other mutations in Ccdc191

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01629:Ccdc191	APN	16	43,779,663 (GRCm39)	missense	possibly damaging	0.81
IGL02272:Ccdc191	APN	16	43,780,385 (GRCm39)	missense	possibly damaging	0.85
IGL02473:Ccdc191	APN	16	43,777,257 (GRCm39)	missense	probably benign	0.03
IGL02660:Ccdc191	APN	16	43,780,462 (GRCm39)	missense	probably benign	0.11
LCD18:Ccdc191	UTSW	16	43,742,164 (GRCm39)	intron	probably benign
R0238:Ccdc191	UTSW	16	43,767,859 (GRCm39)	nonsense	probably null
R0238:Ccdc191	UTSW	16	43,767,859 (GRCm39)	nonsense	probably null
R0346:Ccdc191	UTSW	16	43,759,315 (GRCm39)	missense	probably damaging	0.99
R0590:Ccdc191	UTSW	16	43,751,704 (GRCm39)	nonsense	probably null
R0907:Ccdc191	UTSW	16	43,735,901 (GRCm39)	missense	probably benign	0.03
R0930:Ccdc191	UTSW	16	43,751,618 (GRCm39)	missense	probably damaging	1.00
R1761:Ccdc191	UTSW	16	43,763,873 (GRCm39)	missense	probably benign	0.01
R2127:Ccdc191	UTSW	16	43,728,998 (GRCm39)	missense	probably benign	0.00
R2408:Ccdc191	UTSW	16	43,751,561 (GRCm39)	missense	probably benign	0.08
R2567:Ccdc191	UTSW	16	43,764,330 (GRCm39)	splice site	probably null
R3104:Ccdc191	UTSW	16	43,751,573 (GRCm39)	missense	probably damaging	1.00
R3105:Ccdc191	UTSW	16	43,751,573 (GRCm39)	missense	probably damaging	1.00
R3106:Ccdc191	UTSW	16	43,751,573 (GRCm39)	missense	probably damaging	1.00
R4319:Ccdc191	UTSW	16	43,767,872 (GRCm39)	missense	probably damaging	1.00
R4320:Ccdc191	UTSW	16	43,767,872 (GRCm39)	missense	probably damaging	1.00
R4323:Ccdc191	UTSW	16	43,767,872 (GRCm39)	missense	probably damaging	1.00
R4324:Ccdc191	UTSW	16	43,767,872 (GRCm39)	missense	probably damaging	1.00
R4667:Ccdc191	UTSW	16	43,751,646 (GRCm39)	missense	probably damaging	1.00
R4676:Ccdc191	UTSW	16	43,759,536 (GRCm39)	splice site	probably benign
R4788:Ccdc191	UTSW	16	43,777,185 (GRCm39)	missense	probably damaging	1.00
R4976:Ccdc191	UTSW	16	43,763,868 (GRCm39)	missense	probably benign	0.17
R6369:Ccdc191	UTSW	16	43,735,848 (GRCm39)	missense	probably benign	0.05
R7459:Ccdc191	UTSW	16	43,767,820 (GRCm39)	nonsense	probably null
R7543:Ccdc191	UTSW	16	43,718,572 (GRCm39)	nonsense	probably null
R7843:Ccdc191	UTSW	16	43,779,699 (GRCm39)	missense	probably damaging	1.00
R8077:Ccdc191	UTSW	16	43,735,968 (GRCm39)	critical splice donor site	probably null
R8474:Ccdc191	UTSW	16	43,710,262 (GRCm39)	start gained	probably benign
R8984:Ccdc191	UTSW	16	43,710,581 (GRCm39)	intron	probably benign
R8987:Ccdc191	UTSW	16	43,751,710 (GRCm39)	missense	probably benign	0.29
R9108:Ccdc191	UTSW	16	43,718,512 (GRCm39)	missense	possibly damaging	0.92
R9222:Ccdc191	UTSW	16	43,725,831 (GRCm39)	missense	probably damaging	1.00
R9276:Ccdc191	UTSW	16	43,764,041 (GRCm39)	nonsense	probably null
R9448:Ccdc191	UTSW	16	43,759,338 (GRCm39)	missense
R9507:Ccdc191	UTSW	16	43,764,192 (GRCm39)	missense	probably damaging	0.99
R9757:Ccdc191	UTSW	16	43,762,170 (GRCm39)	missense
Z1177:Ccdc191	UTSW	16	43,759,485 (GRCm39)	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- CGAGAAACAACTGGAGTCCC -3'
(R):5'- CAATTAAGCAGGCAAGGAGTCC -3'

Sequencing Primer
(F):5'- TCCCAGAGAATGGCAGAT -3'
(R):5'- CAGGCAAGGAGTCCATGACC -3'

Posted On

2016-10-24