Mutagenetix > Incidental Mutation

Incidental Mutation 'R9640:Ccdc50'

725941

Institutional Source

Beutler Lab

Gene Symbol

Ccdc50

Ensembl Gene

ENSMUSG00000038127

Gene Name

coiled-coil domain containing 50

Synonyms

5730448P06Rik, 2610529H08Rik, D16Bwg1543e

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9640 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

27207619-27270968 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 27225461 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 58 (V58A)

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: V58A

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000038509
Gene: ENSMUSG00000038127
AA Change: V58A

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

possibly damaging
Transcript: ENSMUST00000096127
AA Change: V58A

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000093841
Gene: ENSMUSG00000038127
AA Change: V58A

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: V58A

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000097604
Gene: ENSMUSG00000038127
AA Change: V58A

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

SMART Domains

Protein: ENSMUSP00000118633
Gene: ENSMUSG00000038127
AA Change: V59A

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	T	C	16: 14,436,589 (GRCm39)	V214A		Het
A830018L16Rik	A	G	1: 12,021,200 (GRCm39)	K403R	probably damaging	Het
Aadacl4fm4	T	A	4: 144,412,809 (GRCm39)	R44W	possibly damaging	Het
Abhd17c	A	T	7: 83,800,814 (GRCm39)	L80Q	probably damaging	Het
Adam30	T	A	3: 98,069,620 (GRCm39)	D484E	probably damaging	Het
Aspm	T	A	1: 139,408,010 (GRCm39)	V2299E	possibly damaging	Het
Atp6v1c1	C	T	15: 38,689,381 (GRCm39)	R281W	probably damaging	Het
Bclaf1	T	C	10: 20,201,553 (GRCm39)		probably null	Het
Cep162	A	G	9: 87,126,352 (GRCm39)	S187P	probably benign	Het
Clip4	C	T	17: 72,163,264 (GRCm39)	T612M	possibly damaging	Het
Corin	C	T	5: 72,592,597 (GRCm39)	V267I	probably benign	Het
Cyp2c37	T	A	19: 40,000,180 (GRCm39)	I434K	probably benign	Het
Ddx43	T	G	9: 78,303,389 (GRCm39)	D76E	probably benign	Het
Dusp5	A	G	19: 53,526,051 (GRCm39)	E231G	probably damaging	Het
Fam114a1	G	A	5: 65,166,394 (GRCm39)	V242I	probably damaging	Het
Frem1	T	A	4: 82,831,896 (GRCm39)	R1973S	probably benign	Het
Gas2l3	A	T	10: 89,266,774 (GRCm39)	D55E	probably damaging	Het
Grwd1	T	C	7: 45,477,303 (GRCm39)	I195V	probably benign	Het
H2-M1	G	T	17: 36,983,031 (GRCm39)	T20K	probably benign	Het
H2-Q2	T	G	17: 35,562,206 (GRCm39)	L151R	probably damaging	Het
Hbegf	T	C	18: 36,640,643 (GRCm39)	Y138C	probably damaging	Het
Hectd1	C	A	12: 51,795,197 (GRCm39)	E2411*	probably null	Het
Igkv11-125	T	A	6: 67,890,783 (GRCm39)	S34T	possibly damaging	Het
Jam2	A	T	16: 84,609,960 (GRCm39)	T191S	probably benign	Het
Kcnh8	T	C	17: 53,185,089 (GRCm39)	I457T	probably damaging	Het
Khk	A	G	5: 31,079,303 (GRCm39)	D15G	probably damaging	Het
Lrba	T	A	3: 86,526,875 (GRCm39)	Y2244*	probably null	Het
Lrp1b	T	C	2: 41,078,929 (GRCm39)	N1841S		Het
Lrp4	A	G	2: 91,316,296 (GRCm39)	T805A	probably benign	Het
Lrp6	C	T	6: 134,441,414 (GRCm39)	R1184Q	probably damaging	Het
Map3k1	A	T	13: 111,900,699 (GRCm39)	L442*	probably null	Het
Mapk8ip3	T	C	17: 25,155,647 (GRCm39)	N61S	possibly damaging	Het
Matcap2	A	T	9: 22,351,228 (GRCm39)	I457L	possibly damaging	Het
Mdn1	T	A	4: 32,754,539 (GRCm39)	V4685E	probably damaging	Het
Mib2	T	C	4: 155,745,325 (GRCm39)	E134G	possibly damaging	Het
Mtss2	T	C	8: 111,464,575 (GRCm39)	V403A	probably benign	Het
Ndst4	C	A	3: 125,232,196 (GRCm39)	T255K	probably damaging	Het
Or1i2	G	C	10: 78,448,311 (GRCm39)	L55V	probably damaging	Het
Or2l13	A	T	16: 19,305,761 (GRCm39)	M58L	probably damaging	Het
Or5ae2	G	A	7: 84,506,114 (GRCm39)	C181Y	probably damaging	Het
Or8g20	A	G	9: 39,396,396 (GRCm39)	L51P	probably damaging	Het
Pak1	T	A	7: 97,515,355 (GRCm39)	D126E	probably benign	Het
Rgl1	T	C	1: 152,397,142 (GRCm39)	T675A	probably damaging	Het
Rgs1	T	C	1: 144,121,116 (GRCm39)	D185G	probably damaging	Het
Rnase2a	G	A	14: 51,493,117 (GRCm39)	R83C	probably damaging	Het
Sfmbt2	A	G	2: 10,583,994 (GRCm39)	T784A	probably damaging	Het
Slc6a21	A	T	7: 44,937,189 (GRCm39)	T272S		Het
Sorcs2	G	T	5: 36,222,765 (GRCm39)	S330*	probably null	Het
Spdef	G	T	17: 27,936,183 (GRCm39)	H253Q		Het
Tas2r144	A	G	6: 42,192,428 (GRCm39)	E56G	probably benign	Het
Trim66	A	G	7: 109,074,825 (GRCm39)	C479R	probably damaging	Het
Ttc36	A	T	9: 44,714,034 (GRCm39)	L28Q	probably benign	Het
Ugt1a5	T	C	1: 88,094,098 (GRCm39)	S109P	possibly damaging	Het
Vamp5	G	A	6: 72,347,276 (GRCm39)		probably benign	Het
Wwox	A	G	8: 115,166,540 (GRCm39)	D10G	possibly damaging	Het
Zfp40	T	C	17: 23,394,493 (GRCm39)	Y698C	probably damaging	Het
Zfp62	A	G	11: 49,106,458 (GRCm39)	D183G	probably benign	Het
Zfp932	T	C	5: 110,157,064 (GRCm39)	V254A	probably benign	Het
Zfp943	T	A	17: 22,209,899 (GRCm39)	L57H	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
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

Predicted Primers

PCR Primer
(F):5'- ACAGTGGCCAGCTTAGAGTG -3'
(R):5'- CAGTTTGAAATCCCAGACAGAAAAG -3'

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

Posted On

2022-09-12