Mutagenetix > Incidental Mutation

Incidental Mutation 'R1405:Ccdc146'

160517

Institutional Source

Beutler Lab

Gene Symbol

Ccdc146

Ensembl Gene

ENSMUSG00000064280

Gene Name

coiled-coil domain containing 146

Synonyms

4930528G09Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1405 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21497959-21629675 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 21604730 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 36 (S36L)

Ref Sequence

ENSEMBL: ENSMUSP00000030552 (fasta)

Gene Model

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

AlphaFold

E9Q9F7

Predicted Effect

probably benign
Transcript: ENSMUST00000030552
AA Change: S36L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000030552
Gene: ENSMUSG00000064280
AA Change: S36L

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

probably benign
Transcript: ENSMUST00000115245
AA Change: S36L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000110900
Gene: ENSMUSG00000064280
AA Change: S36L

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: 99.0%
3x: 96.7%
10x: 83.5%
20x: 53.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap1	G	A	7: 101,047,643 (GRCm39)		probably null	Het
Asb8	G	A	15: 98,039,248 (GRCm39)	H51Y	possibly damaging	Het
Capn10	T	G	1: 92,872,744 (GRCm39)	V490G	probably benign	Het
Celsr1	C	T	15: 85,789,635 (GRCm39)		probably null	Het
Clvs2	C	A	10: 33,389,256 (GRCm39)	*328L	probably null	Het
Cul9	C	G	17: 46,833,101 (GRCm39)	A1326P	probably damaging	Het
Dstn	A	G	2: 143,780,356 (GRCm39)	K19E	probably damaging	Het
Ehmt2	T	A	17: 35,125,553 (GRCm39)	H134Q	probably benign	Het
Faah	G	A	4: 115,858,345 (GRCm39)	P411S	probably damaging	Het
Fn1	A	G	1: 71,681,237 (GRCm39)	F364L	probably damaging	Het
Gmnc	A	T	16: 26,779,196 (GRCm39)	N270K	possibly damaging	Het
Grip2	A	T	6: 91,765,133 (GRCm39)		probably null	Het
Hmg20a	A	T	9: 56,384,587 (GRCm39)	Q119L	possibly damaging	Het
Ipo7	T	C	7: 109,629,048 (GRCm39)	I106T	probably benign	Het
Ipo7	C	T	7: 109,638,456 (GRCm39)	P241L	probably damaging	Het
Katnb1	T	C	8: 95,824,801 (GRCm39)	Y574H	probably damaging	Het
Larp6	A	C	9: 60,644,849 (GRCm39)	M330L	probably benign	Het
Lrrc8e	T	C	8: 4,281,754 (GRCm39)	Y30H	probably damaging	Het
Nop56	T	C	2: 130,119,868 (GRCm39)	V420A	probably benign	Het
Nrg1	T	C	8: 32,407,855 (GRCm39)	D126G	probably benign	Het
Prdm1	T	A	10: 44,315,961 (GRCm39)	N725I	probably damaging	Het
Prl3a1	A	G	13: 27,459,051 (GRCm39)		probably null	Het
Psmd2	T	C	16: 20,471,034 (GRCm39)	L59P	possibly damaging	Het
Ptgdr2	T	C	19: 10,918,395 (GRCm39)	V304A	probably benign	Het
Rasa3	A	G	8: 13,638,027 (GRCm39)	V339A	possibly damaging	Het
Sec24c	G	A	14: 20,742,593 (GRCm39)		probably null	Het
Serpinb9e	A	G	13: 33,444,009 (GRCm39)	D343G	probably benign	Het
Sfi1	TCGC	TC	11: 3,096,254 (GRCm39)		probably null	Het
Sfi1	CCTCTC	CCTCTCTC	11: 3,127,419 (GRCm39)		probably benign	Het
Stab1	A	C	14: 30,870,958 (GRCm39)	V1297G	probably benign	Het
Stk4	C	T	2: 163,942,448 (GRCm39)	T360M	probably benign	Het
Tmprss2	G	A	16: 97,398,005 (GRCm39)	T57I	probably benign	Het
Tnrc6a	A	G	7: 122,770,301 (GRCm39)	D697G	probably damaging	Het
Vwa5b2	T	A	16: 20,423,066 (GRCm39)	D1021E	probably benign	Het
Wdr46	C	A	17: 34,168,057 (GRCm39)	P543Q	probably damaging	Het
Zfp1005	T	A	2: 150,109,620 (GRCm39)	Y103*	probably null	Het
Zfp287	T	A	11: 62,619,137 (GRCm39)	D119V	probably damaging	Het
Zxdc	A	G	6: 90,361,225 (GRCm39)	S737G	possibly damaging	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
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
R3159:Ccdc146	UTSW	5	21,604,790 (GRCm39)	missense	unknown
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'- GCAGACTTTGTATGTCTAAGTGGGCGA -3'
(R):5'- GCGCTTCACATCTGAATATCCAAGCAA -3'

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

Posted On

2014-03-14