Mutagenetix > Incidental Mutation

Incidental Mutation 'R2844:Ccdc50'

251471

Institutional Source

Beutler Lab

Gene Symbol

Ccdc50

Ensembl Gene

ENSMUSG00000038127

Gene Name

coiled-coil domain containing 50

Synonyms

5730448P06Rik, 2610529H08Rik, D16Bwg1543e

MMRRC Submission

040437-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2844 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27207619-27270968 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27225479 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 64 (E64G)

Ref Sequence

ENSEMBL: ENSMUSP00000097604 (fasta)

Gene Model

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

AlphaFold

Q810U5

Predicted Effect

probably damaging
Transcript: ENSMUST00000039443
AA Change: E64G

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

SMART Domains

Protein: ENSMUSP00000038509
Gene: ENSMUSG00000038127
AA Change: E64G

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 damaging
Transcript: ENSMUST00000096127
AA Change: E64G

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

SMART Domains

Protein: ENSMUSP00000093841
Gene: ENSMUSG00000038127
AA Change: E64G

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 damaging
Transcript: ENSMUST00000100026
AA Change: E64G

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

SMART Domains

Protein: ENSMUSP00000097604
Gene: ENSMUSG00000038127
AA Change: E64G

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

unknown
Transcript: ENSMUST00000143823
AA Change: E65G

SMART Domains

Protein: ENSMUSP00000118633
Gene: ENSMUSG00000038127
AA Change: E65G

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

Meta Mutation Damage Score

0.1028

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

98% (42/43)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	G	A	3: 59,843,830 (GRCm39)	V175I	probably benign	Het
Abcb1a	A	T	5: 8,736,164 (GRCm39)	I186F	probably benign	Het
Afg3l1	T	C	8: 124,221,678 (GRCm39)		probably benign	Het
Atg4a	G	A	X: 139,893,589 (GRCm39)	E106K	probably benign	Het
Celsr3	G	T	9: 108,706,507 (GRCm39)	G997W	probably damaging	Het
Chd8	C	T	14: 52,441,952 (GRCm39)	E2138K	possibly damaging	Het
Col19a1	C	T	1: 24,598,762 (GRCm39)	G77E	unknown	Het
Dnaaf11	A	G	15: 66,319,525 (GRCm39)		probably benign	Het
Fhad1	G	T	4: 141,632,279 (GRCm39)	Q1287K	probably benign	Het
Fzr1	G	T	10: 81,205,252 (GRCm39)	T159K	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably null	Het
Gna13	T	C	11: 109,253,951 (GRCm39)	I51T	probably damaging	Het
Gorab	A	G	1: 163,224,375 (GRCm39)		probably null	Het
Hydin	T	C	8: 111,245,746 (GRCm39)	V2153A	probably benign	Het
Ints6	A	G	14: 62,942,275 (GRCm39)	V486A	probably damaging	Het
Irx2	A	G	13: 72,779,709 (GRCm39)	K331R	probably damaging	Het
Mark2	T	C	19: 7,264,227 (GRCm39)	E116G	probably damaging	Het
Med14	A	T	X: 12,550,235 (GRCm39)	H684Q	probably benign	Het
Or1e25	A	T	11: 73,494,209 (GRCm39)	T268S	probably benign	Het
Pde5a	T	C	3: 122,645,357 (GRCm39)	L755P	probably damaging	Het
Pex14	A	T	4: 149,047,968 (GRCm39)	I203N	probably benign	Het
Pi4ka	T	C	16: 17,168,657 (GRCm39)	E691G	probably damaging	Het
Plekha1	G	T	7: 130,510,095 (GRCm39)	W280C	probably damaging	Het
Pnoc	A	T	14: 65,642,284 (GRCm39)	F160I	probably damaging	Het
Ppfia3	C	A	7: 45,005,852 (GRCm39)	R348L	probably damaging	Het
Ppil6	A	T	10: 41,377,689 (GRCm39)		probably benign	Het
Psmd13	C	A	7: 140,477,653 (GRCm39)		probably benign	Het
Psme4	T	C	11: 30,795,173 (GRCm39)		probably benign	Het
Rfx3	T	C	19: 27,784,186 (GRCm39)		probably benign	Het
Rnase11	A	G	14: 51,287,227 (GRCm39)	L109S	probably damaging	Het
Rngtt	A	G	4: 33,368,678 (GRCm39)	T404A	probably benign	Het
Sbf1	A	G	15: 89,187,421 (GRCm39)		probably null	Het
Sema5b	A	G	16: 35,480,301 (GRCm39)	N656S	probably damaging	Het
Ssh3	T	C	19: 4,315,324 (GRCm39)	Y338C	probably damaging	Het
Tgfbr3l	A	G	8: 4,299,280 (GRCm39)	D49G	probably damaging	Het
Thbs1	C	T	2: 117,948,109 (GRCm39)	T423I	probably benign	Het
Ttc17	A	T	2: 94,206,419 (GRCm39)	Y243*	probably null	Het
Zbtb8os	A	T	4: 129,235,309 (GRCm39)	E54D	probably damaging	Het
Zfp648	A	T	1: 154,080,881 (GRCm39)	K347*	probably null	Het
Zfp84	T	G	7: 29,474,758 (GRCm39)		probably null	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
R0582:Ccdc50	UTSW	16	27,263,409 (GRCm39)	splice site	probably benign
R1993:Ccdc50	UTSW	16	27,228,089 (GRCm39)	nonsense	probably null
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'- AGTGGCCAGCTTAGAGTGTC -3'
(R):5'- CTGGACAGCCACCATACAGTTTG -3'

Sequencing Primer
(F):5'- GGCCAGCTTAGAGTGTCTATATAG -3'
(R):5'- GGACAGCCACCATACAGTTTGAAATC -3'

Posted On

2014-12-04