Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00503:Ccdc50'

332503

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 #

IGL00503

Quality Score

Status

Chromosome

Chromosomal Location

27207619-27270968 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 27228102 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 90 (E90K)

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: E90K

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

SMART Domains

Protein: ENSMUSP00000038509
Gene: ENSMUSG00000038127
AA Change: E90K

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: E90K

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

SMART Domains

Protein: ENSMUSP00000093841
Gene: ENSMUSG00000038127
AA Change: E90K

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: E90K

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

SMART Domains

Protein: ENSMUSP00000097604
Gene: ENSMUSG00000038127
AA Change: E90K

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: E91K

SMART Domains

Protein: ENSMUSP00000118633
Gene: ENSMUSG00000038127
AA Change: E91K

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930546C10Rik	T	A	18: 69,083,173 (GRCm39)	R14*	probably null	Het
Abcb5	A	G	12: 118,871,336 (GRCm39)	S688P	probably benign	Het
Adgb	T	A	10: 10,281,843 (GRCm39)	Q597L	possibly damaging	Het
Aga	G	A	8: 53,971,956 (GRCm39)	V210I	probably benign	Het
Akap17b	A	G	X: 35,875,963 (GRCm39)	S515P	probably damaging	Het
Brinp3	A	T	1: 146,776,905 (GRCm39)	T451S	probably benign	Het
Cabcoco1	G	T	10: 68,377,635 (GRCm39)	T18N	possibly damaging	Het
Ccar2	C	T	14: 70,379,980 (GRCm39)	W402*	probably null	Het
Ccdc15	G	A	9: 37,231,769 (GRCm39)	A185V	probably damaging	Het
Cckbr	G	A	7: 105,083,449 (GRCm39)	M217I	probably benign	Het
Clec16a	A	G	16: 10,512,513 (GRCm39)	T398A	possibly damaging	Het
Col4a1	A	G	8: 11,290,076 (GRCm39)		probably benign	Het
Cyp4v3	T	A	8: 45,760,058 (GRCm39)	E498V	probably damaging	Het
Dgke	T	C	11: 88,932,327 (GRCm39)	I488V	probably benign	Het
Dip2c	A	G	13: 9,617,934 (GRCm39)	D443G	probably damaging	Het
Edem3	T	G	1: 151,694,264 (GRCm39)	S852A	probably benign	Het
Fbxo8	T	A	8: 57,041,058 (GRCm39)	M158K	probably benign	Het
Galnt15	C	T	14: 31,774,313 (GRCm39)	T359M	possibly damaging	Het
Herc6	A	G	6: 57,584,130 (GRCm39)	N330D	probably benign	Het
Kdf1	T	C	4: 133,255,468 (GRCm39)	S62P	probably damaging	Het
Larp4	T	A	15: 99,885,302 (GRCm39)	I51N	probably damaging	Het
Mfsd6l	T	A	11: 68,447,299 (GRCm39)	I50N	probably damaging	Het
Mroh2b	A	G	15: 4,928,679 (GRCm39)	Y4C	probably benign	Het
Muc17	G	T	5: 137,165,971 (GRCm39)	Y343*	probably null	Het
Myom2	A	C	8: 15,164,289 (GRCm39)		probably null	Het
Npat	A	T	9: 53,483,949 (GRCm39)		probably benign	Het
Pamr1	A	T	2: 102,472,617 (GRCm39)	I639F	possibly damaging	Het
Pcsk2	A	G	2: 143,635,159 (GRCm39)	S345G	probably damaging	Het
Pcyt1a	A	G	16: 32,285,919 (GRCm39)	T197A	probably damaging	Het
Pkd1	A	G	17: 24,784,401 (GRCm39)	M316V	probably benign	Het
Plekhs1	T	C	19: 56,453,031 (GRCm39)		probably null	Het
Sema3e	G	T	5: 14,290,586 (GRCm39)	R557M	probably damaging	Het
Sgsm1	T	C	5: 113,424,008 (GRCm39)	N154S	probably benign	Het
Smg1	A	T	7: 117,784,706 (GRCm39)		probably benign	Het
Sp110	A	C	1: 85,505,050 (GRCm39)	F434C	probably benign	Het
Spats1	A	T	17: 45,765,011 (GRCm39)		probably null	Het
Tnfaip6	T	G	2: 51,945,859 (GRCm39)	V235G	probably damaging	Het
Trim34a	A	T	7: 103,910,538 (GRCm39)	T447S	probably damaging	Het
Tut1	G	A	19: 8,936,460 (GRCm39)	A95T	probably damaging	Het
Urgcp	C	T	11: 5,666,448 (GRCm39)	R630Q	possibly damaging	Het
Vmn1r125	G	T	7: 21,006,106 (GRCm39)	M1I	probably null	Het
Vmn2r99	A	G	17: 19,599,116 (GRCm39)	T267A	probably benign	Het
Wdr5	A	G	2: 27,410,879 (GRCm39)	K162E	probably benign	Het
Zscan26	T	G	13: 21,629,271 (GRCm39)	K285Q	probably damaging	Het

Other mutations in Ccdc50

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R9640:Ccdc50	UTSW	16	27,225,461 (GRCm39)	missense	probably damaging	0.96

Posted On

2015-08-05