Mutagenetix > Incidental Mutation

Incidental Mutation 'R3004:Ccdc158'

257388

Institutional Source

Beutler Lab

Gene Symbol

Ccdc158

Ensembl Gene

ENSMUSG00000050050

Gene Name

coiled-coil domain containing 158

Synonyms

4932413O14Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.187) question?

Stock #

R3004 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

92756096-92823327 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 92796929 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 469 (L469P)

Ref Sequence

ENSEMBL: ENSMUSP00000063050 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060930] [ENSMUST00000150359] [ENSMUST00000151180]

AlphaFold

Q8CDI6

Predicted Effect

probably damaging
Transcript: ENSMUST00000060930
AA Change: L469P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000063050
Gene: ENSMUSG00000050050
AA Change: L469P

Domain	Start	End	E-Value	Type
Pfam:CCDC158	1	1109	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150359

SMART Domains

Protein: ENSMUSP00000123259
Gene: ENSMUSG00000050050

Domain	Start	End	E-Value	Type
Pfam:CCDC158	1	346	1.5e-220	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000151180

SMART Domains

Protein: ENSMUSP00000117894
Gene: ENSMUSG00000050050

Domain	Start	End	E-Value	Type
coiled coil region	71	105	N/A	INTRINSIC
coiled coil region	127	166	N/A	INTRINSIC
coiled coil region	244	343	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk3	G	A	7: 80,753,103 (GRCm39)	W1553*	probably null	Het
Art2a	T	C	7: 101,203,972 (GRCm39)	I189V	probably benign	Het
BC049715	A	G	6: 136,816,790 (GRCm39)	E10G	possibly damaging	Het
Cspg4b	T	C	13: 113,502,688 (GRCm39)	F131S	probably damaging	Het
Ctsm	T	C	13: 61,687,682 (GRCm39)	I59V	possibly damaging	Het
Daam2	A	G	17: 49,767,682 (GRCm39)	F970L	probably damaging	Het
Gm21903	A	T	17: 39,353,547 (GRCm39)		probably benign	Het
Gpr158	T	A	2: 21,831,810 (GRCm39)	M970K	probably damaging	Het
H2bc7	G	A	13: 23,758,355 (GRCm39)		probably benign	Het
Hoxd10	T	A	2: 74,522,706 (GRCm39)	V128D	probably benign	Het
Ighv5-9	T	C	12: 113,625,567 (GRCm39)	T59A	probably benign	Het
Nlrp4c	G	A	7: 6,068,524 (GRCm39)	V142M	probably benign	Het
Npc1	A	G	18: 12,330,311 (GRCm39)	F947L	probably benign	Het
Or1ak2	T	A	2: 36,827,221 (GRCm39)	I30N	possibly damaging	Het
Or56b1b	G	T	7: 108,164,151 (GRCm39)	H284N	probably benign	Het
Piezo2	G	T	18: 63,157,506 (GRCm39)	Y223*	probably null	Het
Rhog	A	T	7: 101,889,345 (GRCm39)	V36E	probably damaging	Het
Sbno1	G	A	5: 124,519,771 (GRCm39)	T1168I	probably damaging	Het
Sin3a	T	A	9: 57,004,118 (GRCm39)	L290*	probably null	Het
Slco1c1	G	T	6: 141,478,380 (GRCm39)	A48S	probably damaging	Het
Slfn9	A	T	11: 82,872,590 (GRCm39)	S715R	possibly damaging	Het
Sox17	T	C	1: 4,562,840 (GRCm39)	E120G	probably damaging	Het

Other mutations in Ccdc158

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Ccdc158	APN	5	92,805,740 (GRCm39)	missense	probably benign	0.01
IGL00926:Ccdc158	APN	5	92,798,626 (GRCm39)	missense	probably damaging	0.98
IGL01533:Ccdc158	APN	5	92,757,815 (GRCm39)	splice site	probably null
IGL01551:Ccdc158	APN	5	92,814,620 (GRCm39)	missense	probably damaging	0.96
IGL01591:Ccdc158	APN	5	92,809,900 (GRCm39)	missense	probably benign	0.28
IGL01722:Ccdc158	APN	5	92,810,598 (GRCm39)	missense	possibly damaging	0.93
IGL02250:Ccdc158	APN	5	92,756,337 (GRCm39)	missense	probably damaging	1.00
IGL02457:Ccdc158	APN	5	92,797,907 (GRCm39)	missense	probably damaging	1.00
IGL02570:Ccdc158	APN	5	92,796,885 (GRCm39)	missense	possibly damaging	0.81
IGL02951:Ccdc158	APN	5	92,797,865 (GRCm39)	missense	probably damaging	1.00
IGL03275:Ccdc158	APN	5	92,777,491 (GRCm39)	missense	probably benign	0.00
R0238:Ccdc158	UTSW	5	92,809,977 (GRCm39)	missense	probably benign	0.31
R0238:Ccdc158	UTSW	5	92,809,977 (GRCm39)	missense	probably benign	0.31
R0747:Ccdc158	UTSW	5	92,781,156 (GRCm39)	missense	probably benign	0.00
R1219:Ccdc158	UTSW	5	92,802,040 (GRCm39)	splice site	probably benign
R1480:Ccdc158	UTSW	5	92,796,903 (GRCm39)	missense	probably damaging	1.00
R1926:Ccdc158	UTSW	5	92,798,647 (GRCm39)	missense	probably benign	0.41
R2172:Ccdc158	UTSW	5	92,780,367 (GRCm39)	missense	probably damaging	1.00
R2245:Ccdc158	UTSW	5	92,757,811 (GRCm39)	unclassified	probably benign
R3147:Ccdc158	UTSW	5	92,805,822 (GRCm39)	missense	probably damaging	1.00
R3693:Ccdc158	UTSW	5	92,757,904 (GRCm39)	missense	probably damaging	1.00
R3694:Ccdc158	UTSW	5	92,757,904 (GRCm39)	missense	probably damaging	1.00
R3735:Ccdc158	UTSW	5	92,780,283 (GRCm39)	missense	possibly damaging	0.60
R3736:Ccdc158	UTSW	5	92,780,283 (GRCm39)	missense	possibly damaging	0.60
R3912:Ccdc158	UTSW	5	92,796,794 (GRCm39)	missense	possibly damaging	0.90
R4026:Ccdc158	UTSW	5	92,791,666 (GRCm39)	missense	probably benign	0.07
R4080:Ccdc158	UTSW	5	92,771,255 (GRCm39)	missense	probably benign	0.00
R4463:Ccdc158	UTSW	5	92,782,159 (GRCm39)	missense	probably null	0.99
R4483:Ccdc158	UTSW	5	92,781,187 (GRCm39)	missense	probably benign	0.01
R4859:Ccdc158	UTSW	5	92,781,262 (GRCm39)	missense	probably damaging	0.99
R5016:Ccdc158	UTSW	5	92,805,751 (GRCm39)	missense	probably benign	0.01
R5050:Ccdc158	UTSW	5	92,814,738 (GRCm39)	missense	probably benign	0.01
R5372:Ccdc158	UTSW	5	92,780,419 (GRCm39)	missense	possibly damaging	0.55
R5427:Ccdc158	UTSW	5	92,796,821 (GRCm39)	missense	probably damaging	1.00
R5847:Ccdc158	UTSW	5	92,775,339 (GRCm39)	missense	probably benign	0.00
R5966:Ccdc158	UTSW	5	92,797,908 (GRCm39)	missense	probably damaging	1.00
R6106:Ccdc158	UTSW	5	92,775,325 (GRCm39)	missense	probably benign
R6185:Ccdc158	UTSW	5	92,814,713 (GRCm39)	missense	possibly damaging	0.73
R6562:Ccdc158	UTSW	5	92,810,581 (GRCm39)	missense	probably damaging	0.99
R6743:Ccdc158	UTSW	5	92,810,005 (GRCm39)	missense	probably benign	0.08
R6815:Ccdc158	UTSW	5	92,760,345 (GRCm39)	missense	probably damaging	0.99
R6914:Ccdc158	UTSW	5	92,809,929 (GRCm39)	missense	probably benign	0.00
R6975:Ccdc158	UTSW	5	92,814,579 (GRCm39)	nonsense	probably null
R7252:Ccdc158	UTSW	5	92,798,647 (GRCm39)	missense	probably benign	0.41
R7477:Ccdc158	UTSW	5	92,798,555 (GRCm39)	missense	probably damaging	0.96
R7782:Ccdc158	UTSW	5	92,793,373 (GRCm39)	missense	probably benign	0.00
R8014:Ccdc158	UTSW	5	92,796,889 (GRCm39)	missense	probably damaging	1.00
R8018:Ccdc158	UTSW	5	92,771,260 (GRCm39)	missense	possibly damaging	0.64
R8028:Ccdc158	UTSW	5	92,782,110 (GRCm39)	missense	probably damaging	1.00
X0025:Ccdc158	UTSW	5	92,809,871 (GRCm39)	missense	probably benign
Z1176:Ccdc158	UTSW	5	92,756,350 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTGAGGTGATCGCCCTCATTC -3'
(R):5'- TTAGGCTATTTGAACTGTTCAGTTC -3'

Sequencing Primer
(F):5'- TTGAAGCTCCTGCAACTTCAAG -3'
(R):5'- GAACTGTTCAGTTCAGGATTTCATGC -3'

Posted On

2015-01-11