Mutagenetix > Incidental Mutation

Incidental Mutation 'R0582:Ccdc50'

56485

Institutional Source

Beutler Lab

Gene Symbol

Ccdc50

Ensembl Gene

ENSMUSG00000038127

Gene Name

coiled-coil domain containing 50

Synonyms

5730448P06Rik, 2610529H08Rik, D16Bwg1543e

MMRRC Submission

038772-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0582 (G1)

Quality Score

177

Status

Validated

Chromosome

Chromosomal Location

27207619-27270968 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 27263409 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000097604 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039443] [ENSMUST00000096127] [ENSMUST00000100026]

AlphaFold

Q810U5

Predicted Effect

probably benign
Transcript: ENSMUST00000039443

SMART Domains

Protein: ENSMUSP00000038509
Gene: ENSMUSG00000038127

Domain	Start	End	E-Value	Type
Pfam:CCDC50_N	1	131	2e-59	PFAM
low complexity region	211	225	N/A	INTRINSIC
low complexity region	238	249	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000096127

SMART Domains

Protein: ENSMUSP00000093841
Gene: ENSMUSG00000038127

Domain	Start	End	E-Value	Type
Pfam:CCDC50_N	1	131	1.8e-59	PFAM
coiled coil region	183	212	N/A	INTRINSIC
low complexity region	223	234	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000100026

SMART Domains

Protein: ENSMUSP00000097604
Gene: ENSMUSG00000038127

Domain	Start	End	E-Value	Type
Pfam:CCDC50_N	4	128	1.5e-50	PFAM
low complexity region	211	225	N/A	INTRINSIC
low complexity region	238	249	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 94.6%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	T	12: 118,904,147 (GRCm39)	M186K	probably benign	Het
Afm	T	C	5: 90,672,639 (GRCm39)		probably benign	Het
Arfgef3	G	A	10: 18,487,038 (GRCm39)	A1332V	probably damaging	Het
Atp11a	T	C	8: 12,881,214 (GRCm39)	S451P	probably benign	Het
Birc6	T	A	17: 74,950,332 (GRCm39)	V3189E	probably damaging	Het
Ccdc150	C	T	1: 54,368,670 (GRCm39)	A626V	probably benign	Het
Cntln	T	C	4: 84,802,978 (GRCm39)	S93P	probably damaging	Het
Ctnna2	C	A	6: 77,735,400 (GRCm39)	V106L	probably benign	Het
Ctnnal1	G	C	4: 56,813,228 (GRCm39)	Q668E	probably damaging	Het
Cyp1a2	G	A	9: 57,587,529 (GRCm39)		probably benign	Het
Dnah8	A	G	17: 30,937,935 (GRCm39)	D1604G	probably benign	Het
Dscaml1	A	T	9: 45,579,562 (GRCm39)	I370F	possibly damaging	Het
Duxf4	A	T	10: 58,071,508 (GRCm39)	S235R	probably benign	Het
Ears2	T	C	7: 121,654,881 (GRCm39)	E129G	probably benign	Het
Igsf10	T	C	3: 59,227,188 (GRCm39)	I2162V	probably benign	Het
Ints9	C	T	14: 65,217,598 (GRCm39)	P42S	probably damaging	Het
Ipp	T	C	4: 116,372,664 (GRCm39)	L231S	probably damaging	Het
Lyn	T	A	4: 3,743,296 (GRCm39)	L72Q	probably damaging	Het
Nfe2l2	T	A	2: 75,507,112 (GRCm39)	E329D	probably damaging	Het
Or2h2c	G	C	17: 37,422,347 (GRCm39)	L176V	probably benign	Het
Or52a24	G	A	7: 103,381,880 (GRCm39)	C249Y	possibly damaging	Het
Pdyn	A	C	2: 129,531,658 (GRCm39)	L44R	probably damaging	Het
Pkd1l1	A	G	11: 8,881,699 (GRCm39)		probably benign	Het
Prpf40a	A	T	2: 53,035,704 (GRCm39)	F695L	probably damaging	Het
Rnf217	A	G	10: 31,484,763 (GRCm39)	Y140H	possibly damaging	Het
Sema6c	C	T	3: 95,076,508 (GRCm39)	R265C	probably damaging	Het
Slc7a8	C	A	14: 54,995,901 (GRCm39)	C167F	probably damaging	Het
Snap47	A	T	11: 59,319,259 (GRCm39)	L293*	probably null	Het
Snx3	A	T	10: 42,409,276 (GRCm39)		probably benign	Het
Sycp2l	T	A	13: 41,291,431 (GRCm39)		probably benign	Het
Taar3	A	G	10: 23,825,715 (GRCm39)	Y87C	probably damaging	Het
Tm4sf4	T	C	3: 57,341,278 (GRCm39)		probably benign	Het
Tssc4	T	C	7: 142,624,246 (GRCm39)	S185P	probably damaging	Het
Ttc28	G	T	5: 111,331,162 (GRCm39)	A430S	probably damaging	Het
Ulbp3	G	A	10: 3,075,082 (GRCm39)		noncoding transcript	Het
Vmn2r27	T	C	6: 124,201,249 (GRCm39)	D236G	probably benign	Het
Vps54	G	T	11: 21,250,137 (GRCm39)	D508Y	probably damaging	Het
Wdr53	G	A	16: 32,070,726 (GRCm39)	V24M	probably damaging	Het
Xirp2	T	G	2: 67,339,210 (GRCm39)	L484V	probably benign	Het
Zfyve26	T	C	12: 79,292,996 (GRCm39)	D2051G	probably damaging	Het

Other mutations in Ccdc50

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00503:Ccdc50	APN	16	27,228,102 (GRCm39)	missense	probably damaging	1.00
IGL02725:Ccdc50	APN	16	27,255,347 (GRCm39)	missense	probably benign	0.38
IGL02742:Ccdc50	APN	16	27,225,534 (GRCm39)	splice site	probably benign
R0310:Ccdc50	UTSW	16	27,225,408 (GRCm39)	missense	probably damaging	1.00
R1993:Ccdc50	UTSW	16	27,228,089 (GRCm39)	nonsense	probably null
R2844:Ccdc50	UTSW	16	27,225,479 (GRCm39)	missense	probably damaging	1.00
R3121:Ccdc50	UTSW	16	27,228,139 (GRCm39)	missense	possibly damaging	0.89
R3923:Ccdc50	UTSW	16	27,263,294 (GRCm39)	missense	probably damaging	1.00
R4624:Ccdc50	UTSW	16	27,255,351 (GRCm39)	missense	probably null	0.77
R5057:Ccdc50	UTSW	16	27,257,092 (GRCm39)	missense	probably benign	0.00
R5339:Ccdc50	UTSW	16	27,236,055 (GRCm39)	missense	probably damaging	0.99
R7673:Ccdc50	UTSW	16	27,225,425 (GRCm39)	missense	possibly damaging	0.84
R8355:Ccdc50	UTSW	16	27,236,101 (GRCm39)	missense	probably benign	0.04
R8744:Ccdc50	UTSW	16	27,255,148 (GRCm39)	missense	possibly damaging	0.92
R9013:Ccdc50	UTSW	16	27,228,106 (GRCm39)	missense	probably damaging	1.00
R9267:Ccdc50	UTSW	16	27,208,700 (GRCm39)	missense
R9640:Ccdc50	UTSW	16	27,225,461 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AGCTTTCTGAAGCACTGGACACTTG -3'
(R):5'- AGTCTGAAACTGTTTGAGGAGCGTC -3'

Sequencing Primer
(F):5'- AGCACTGGACACTTGGATTCTAC -3'
(R):5'- CAGTCTGAGGGACTGCAATTC -3'

Posted On

2013-07-11