Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02742:Ccdc50'

305955

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc50

Ensembl Gene

ENSMUSG00000038127

Gene Name

coiled-coil domain containing 50

Synonyms

5730448P06Rik, 2610529H08Rik, D16Bwg1543e

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02742

Quality Score

Status

Chromosome

Chromosomal Location

27207619-27270968 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 27225534 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

Predicted Effect

probably benign
Transcript: ENSMUST00000143823

SMART Domains

Protein: ENSMUSP00000118633
Gene: ENSMUSG00000038127

Domain	Start	End	E-Value	Type
Pfam:CCDC50_N	16	130	4.7e-44	PFAM
low complexity region	213	227	N/A	INTRINSIC
low complexity region	240	251	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad11	A	G	9: 103,972,824 (GRCm39)	T506A	probably damaging	Het
Ankib1	A	C	5: 3,743,479 (GRCm39)	D845E	probably benign	Het
Atxn2	T	C	5: 121,919,399 (GRCm39)	V369A	possibly damaging	Het
Clec2g	A	G	6: 128,957,224 (GRCm39)	I61V	possibly damaging	Het
Col16a1	G	A	4: 129,955,172 (GRCm39)		probably benign	Het
Dapk2	A	G	9: 66,139,096 (GRCm39)	Y139C	probably damaging	Het
Ecpas	A	G	4: 58,840,757 (GRCm39)	V667A	probably damaging	Het
Fnip1	T	C	11: 54,384,177 (GRCm39)	L334P	probably damaging	Het
Igf1r	A	G	7: 67,839,739 (GRCm39)	E682G	possibly damaging	Het
Ints8	T	C	4: 11,241,627 (GRCm39)	E272G	possibly damaging	Het
Jph2	G	A	2: 163,217,699 (GRCm39)	P326S	probably damaging	Het
Krtap1-4	T	C	11: 99,473,940 (GRCm39)		probably benign	Het
Lrp5	A	G	19: 3,654,022 (GRCm39)	I1135T	probably damaging	Het
Lrrk1	A	G	7: 65,958,439 (GRCm39)	V320A	probably benign	Het
Myh6	A	C	14: 55,191,381 (GRCm39)	I820S	possibly damaging	Het
Napg	A	T	18: 63,119,319 (GRCm39)	T110S	probably damaging	Het
Nova1	G	A	12: 46,767,475 (GRCm39)	Q56*	probably null	Het
Phyhip	A	G	14: 70,699,367 (GRCm39)		probably null	Het
Pkd2l2	C	A	18: 34,549,970 (GRCm39)	S205*	probably null	Het
Ppp2r1a	G	T	17: 21,179,265 (GRCm39)	C101F	probably benign	Het
Serpinb3c	G	A	1: 107,200,872 (GRCm39)	R182*	probably null	Het
St18	A	C	1: 6,872,540 (GRCm39)		probably benign	Het
St6galnac4	C	T	2: 32,487,096 (GRCm39)	R264C	possibly damaging	Het
Tmem168	T	C	6: 13,603,261 (GRCm39)	Y35C	probably benign	Het
Tmem219	A	G	7: 126,496,220 (GRCm39)	L74P	probably damaging	Het
Trpc4	T	A	3: 54,206,667 (GRCm39)	N622K	probably damaging	Het
Trpm6	A	C	19: 18,807,376 (GRCm39)		probably benign	Het
Ttl	C	A	2: 128,908,213 (GRCm39)	F49L	possibly damaging	Het
Tut7	C	T	13: 59,964,156 (GRCm39)	D250N	probably damaging	Het
Vmn1r123	A	T	7: 20,896,968 (GRCm39)	I287F	possibly damaging	Het
Vmn2r97	T	G	17: 19,149,432 (GRCm39)	I273M	probably damaging	Het
Wdr5	C	A	2: 27,410,437 (GRCm39)		probably benign	Het
Zfp37	C	A	4: 62,110,548 (GRCm39)	C172F	possibly 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
R0310:Ccdc50	UTSW	16	27,225,408 (GRCm39)	missense	probably damaging	1.00
R0582:Ccdc50	UTSW	16	27,263,409 (GRCm39)	splice site	probably benign
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

Posted On

2015-04-16