Mutagenetix > Incidental Mutation

Incidental Mutation 'R3159:Ccdc146'

258055

Institutional Source

Beutler Lab

Gene Symbol

Ccdc146

Ensembl Gene

ENSMUSG00000064280

Gene Name

coiled-coil domain containing 146

Synonyms

4930528G09Rik

MMRRC Submission

040610-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3159 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21497959-21629675 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21604790 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 16 (E16G)

Ref Sequence

ENSEMBL: ENSMUSP00000110900 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030552] [ENSMUST00000115245]

AlphaFold

E9Q9F7

Predicted Effect

unknown
Transcript: ENSMUST00000030552
AA Change: E16G

SMART Domains

Protein: ENSMUSP00000030552
Gene: ENSMUSG00000064280
AA Change: E16G

Domain	Start	End	E-Value	Type
coiled coil region	1	33	N/A	INTRINSIC
low complexity region	120	130	N/A	INTRINSIC
coiled coil region	194	320	N/A	INTRINSIC
low complexity region	333	342	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000115245
AA Change: E16G

SMART Domains

Protein: ENSMUSP00000110900
Gene: ENSMUSG00000064280
AA Change: E16G

Domain	Start	End	E-Value	Type
coiled coil region	1	33	N/A	INTRINSIC
low complexity region	120	130	N/A	INTRINSIC
coiled coil region	194	320	N/A	INTRINSIC
low complexity region	333	342	N/A	INTRINSIC
coiled coil region	438	477	N/A	INTRINSIC
coiled coil region	549	595	N/A	INTRINSIC
coiled coil region	617	663	N/A	INTRINSIC
coiled coil region	690	720	N/A	INTRINSIC
coiled coil region	770	793	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bltp1	T	C	3: 37,013,564 (GRCm39)	V1931A	probably benign	Het
Ccr4	G	T	9: 114,321,350 (GRCm39)	N238K	probably benign	Het
Cdk15	T	C	1: 59,340,440 (GRCm39)	I313T	probably damaging	Het
Celsr3	T	C	9: 108,704,909 (GRCm39)	V464A	possibly damaging	Het
Cfap54	T	C	10: 92,834,918 (GRCm39)	I1096V	probably benign	Het
Dmpk	A	G	7: 18,826,944 (GRCm39)	T579A	probably benign	Het
Dscam	T	C	16: 96,479,710 (GRCm39)	T1146A	probably benign	Het
Galnt12	A	G	4: 47,104,264 (GRCm39)	D174G	probably damaging	Het
Gm5145	A	G	17: 20,791,155 (GRCm39)	I178V	probably benign	Het
Gxylt1	A	G	15: 93,142,913 (GRCm39)	I384T	probably benign	Het
Hmgcr	C	T	13: 96,802,355 (GRCm39)	V110I	probably damaging	Het
Hsd17b2	A	C	8: 118,485,491 (GRCm39)	D318A	probably damaging	Het
Ighv8-6	A	G	12: 115,129,508 (GRCm39)	S83P	probably damaging	Het
Isg20	C	A	7: 78,564,201 (GRCm39)	A36E	possibly damaging	Het
Jade3	A	G	X: 20,345,783 (GRCm39)	K54E	probably damaging	Het
Mark1	A	T	1: 184,640,584 (GRCm39)	Y505N	probably damaging	Het
Mmp11	C	T	10: 75,762,948 (GRCm39)		probably benign	Het
Myo1g	G	T	11: 6,464,527 (GRCm39)	T511K	possibly damaging	Het
Ociad1	A	T	5: 73,467,688 (GRCm39)	R155*	probably null	Het
Or5t7	A	G	2: 86,506,855 (GRCm39)	I274T	probably benign	Het
Pcdha2	C	T	18: 37,074,250 (GRCm39)	T627I	probably damaging	Het
Polg2	A	C	11: 106,659,163 (GRCm39)	V450G	probably benign	Het
Rbm48	A	T	5: 3,646,105 (GRCm39)	V33D	possibly damaging	Het
Rfx6	A	T	10: 51,602,816 (GRCm39)	R778W	probably damaging	Het
Sav1	A	T	12: 70,031,326 (GRCm39)	D65E	probably benign	Het
Sh3rf1	C	T	8: 61,679,321 (GRCm39)	P121L	probably benign	Het
Shank2	C	A	7: 143,635,611 (GRCm39)	N328K	probably damaging	Het
Slc8a3	C	A	12: 81,361,766 (GRCm39)	R351L	probably damaging	Het
Slc9b1	G	A	3: 135,077,606 (GRCm39)	G100E	probably damaging	Het
Slit1	A	G	19: 41,592,812 (GRCm39)	Y1214H	probably benign	Het
Smu1	T	A	4: 40,754,529 (GRCm39)	R123S	possibly damaging	Het
Tgfb3	A	T	12: 86,105,760 (GRCm39)	W332R	probably damaging	Het
Tmem132a	C	T	19: 10,836,901 (GRCm39)	W680*	probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trav4-4-dv10	A	T	14: 53,921,559 (GRCm39)	K86*	probably null	Het
Zfp667	T	C	7: 6,308,999 (GRCm39)	C556R	probably damaging	Het
Zranb3	A	G	1: 127,900,686 (GRCm39)	I713T	probably benign	Het

Other mutations in Ccdc146

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00502:Ccdc146	APN	5	21,506,420 (GRCm39)	missense	possibly damaging	0.93
IGL01066:Ccdc146	APN	5	21,524,540 (GRCm39)	missense	probably benign	0.03
IGL01399:Ccdc146	APN	5	21,499,611 (GRCm39)	missense	possibly damaging	0.75
IGL01866:Ccdc146	APN	5	21,538,052 (GRCm39)	missense	probably damaging	0.99
IGL01868:Ccdc146	APN	5	21,538,052 (GRCm39)	missense	probably damaging	0.99
IGL01869:Ccdc146	APN	5	21,521,837 (GRCm39)	missense	probably benign	0.25
IGL02213:Ccdc146	APN	5	21,521,902 (GRCm39)	missense	probably benign	0.10
IGL02338:Ccdc146	APN	5	21,524,604 (GRCm39)	unclassified	probably benign
IGL02553:Ccdc146	APN	5	21,502,631 (GRCm39)	missense	probably benign	0.00
IGL02838:Ccdc146	APN	5	21,502,567 (GRCm39)	missense	probably benign	0.01
Starcraft	UTSW	5	21,604,612 (GRCm39)	splice site	probably null
R0051:Ccdc146	UTSW	5	21,521,902 (GRCm39)	missense	possibly damaging	0.58
R0051:Ccdc146	UTSW	5	21,521,902 (GRCm39)	missense	possibly damaging	0.58
R0055:Ccdc146	UTSW	5	21,502,004 (GRCm39)	splice site	probably null
R0115:Ccdc146	UTSW	5	21,527,754 (GRCm39)	missense	possibly damaging	0.87
R0373:Ccdc146	UTSW	5	21,524,543 (GRCm39)	missense	probably benign	0.00
R1251:Ccdc146	UTSW	5	21,498,370 (GRCm39)	missense	probably benign	0.00
R1355:Ccdc146	UTSW	5	21,526,240 (GRCm39)	missense	probably damaging	1.00
R1405:Ccdc146	UTSW	5	21,604,730 (GRCm39)	missense	probably benign	0.00
R1405:Ccdc146	UTSW	5	21,604,730 (GRCm39)	missense	probably benign	0.00
R1470:Ccdc146	UTSW	5	21,524,564 (GRCm39)	missense	probably damaging	1.00
R1470:Ccdc146	UTSW	5	21,524,564 (GRCm39)	missense	probably damaging	1.00
R1556:Ccdc146	UTSW	5	21,535,551 (GRCm39)	missense	probably damaging	1.00
R1613:Ccdc146	UTSW	5	21,499,522 (GRCm39)	missense	probably damaging	0.99
R1872:Ccdc146	UTSW	5	21,506,288 (GRCm39)	missense	probably benign	0.01
R2271:Ccdc146	UTSW	5	21,604,719 (GRCm39)	missense	probably benign	0.15
R2329:Ccdc146	UTSW	5	21,513,610 (GRCm39)	critical splice donor site	probably null
R2518:Ccdc146	UTSW	5	21,510,526 (GRCm39)	missense	probably benign
R2680:Ccdc146	UTSW	5	21,510,267 (GRCm39)	missense	possibly damaging	0.58
R3116:Ccdc146	UTSW	5	21,521,953 (GRCm39)	missense	probably benign	0.02
R3121:Ccdc146	UTSW	5	21,499,591 (GRCm39)	missense	possibly damaging	0.56
R3122:Ccdc146	UTSW	5	21,499,591 (GRCm39)	missense	possibly damaging	0.56
R3436:Ccdc146	UTSW	5	21,502,003 (GRCm39)	missense	possibly damaging	0.92
R4043:Ccdc146	UTSW	5	21,521,941 (GRCm39)	missense	probably benign	0.14
R4226:Ccdc146	UTSW	5	21,527,756 (GRCm39)	missense	probably benign	0.09
R4493:Ccdc146	UTSW	5	21,508,191 (GRCm39)	missense	possibly damaging	0.92
R5013:Ccdc146	UTSW	5	21,538,036 (GRCm39)	missense	probably damaging	1.00
R5024:Ccdc146	UTSW	5	21,604,612 (GRCm39)	splice site	probably null
R5051:Ccdc146	UTSW	5	21,508,081 (GRCm39)	missense	possibly damaging	0.77
R5384:Ccdc146	UTSW	5	21,513,711 (GRCm39)	missense	probably benign	0.37
R5532:Ccdc146	UTSW	5	21,510,329 (GRCm39)	missense	probably benign	0.02
R5906:Ccdc146	UTSW	5	21,506,350 (GRCm39)	missense	possibly damaging	0.88
R5927:Ccdc146	UTSW	5	21,513,619 (GRCm39)	nonsense	probably null
R5951:Ccdc146	UTSW	5	21,524,577 (GRCm39)	missense	possibly damaging	0.84
R5978:Ccdc146	UTSW	5	21,521,966 (GRCm39)	missense	probably benign	0.02
R5990:Ccdc146	UTSW	5	21,523,180 (GRCm39)	missense	probably benign	0.41
R6123:Ccdc146	UTSW	5	21,510,595 (GRCm39)	missense	possibly damaging	0.93
R6217:Ccdc146	UTSW	5	21,522,900 (GRCm39)	splice site	probably null
R6276:Ccdc146	UTSW	5	21,506,338 (GRCm39)	missense	probably damaging	0.98
R6665:Ccdc146	UTSW	5	21,508,092 (GRCm39)	missense	probably damaging	1.00
R7077:Ccdc146	UTSW	5	21,510,272 (GRCm39)	missense	possibly damaging	0.94
R7204:Ccdc146	UTSW	5	21,513,624 (GRCm39)	missense	probably benign	0.22
R7336:Ccdc146	UTSW	5	21,508,110 (GRCm39)	missense	probably benign	0.41
R7608:Ccdc146	UTSW	5	21,506,450 (GRCm39)	missense	probably benign	0.02
R8310:Ccdc146	UTSW	5	21,506,469 (GRCm39)	intron	probably benign
R8427:Ccdc146	UTSW	5	21,604,790 (GRCm39)	missense	unknown
R8927:Ccdc146	UTSW	5	21,538,060 (GRCm39)	missense	probably damaging	1.00
R8928:Ccdc146	UTSW	5	21,538,060 (GRCm39)	missense	probably damaging	1.00
R8957:Ccdc146	UTSW	5	21,514,585 (GRCm39)	intron	probably benign
R9003:Ccdc146	UTSW	5	21,508,132 (GRCm39)	missense	possibly damaging	0.58
R9252:Ccdc146	UTSW	5	21,502,023 (GRCm39)	missense	probably damaging	0.98
R9425:Ccdc146	UTSW	5	21,508,135 (GRCm39)	missense	probably damaging	0.99
R9612:Ccdc146	UTSW	5	21,535,577 (GRCm39)	missense	probably damaging	0.99
R9774:Ccdc146	UTSW	5	21,506,247 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCTCATGCAGACAGAGGAAAGC -3'
(R):5'- GCTTCACATCTGAATATCCAAGC -3'

Sequencing Primer
(F):5'- CTGGTGTTTCAGCTAAATTGATGAGC -3'
(R):5'- CTGTTGGCAAATATTCTTGGTACAC -3'

Posted On

2015-01-23