Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00976:Ccdc190'

26757

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc190

Ensembl Gene

ENSMUSG00000070532

Gene Name

coiled-coil domain containing 190

Synonyms

1700084C01Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

IGL00976

Quality Score

Status

Chromosome

Chromosomal Location

169756217-169762222 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 169761309 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 137 (H137L)

Ref Sequence

ENSEMBL: ENSMUSP00000135819 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094348] [ENSMUST00000175731]

AlphaFold

Q3URK1

Predicted Effect

probably benign
Transcript: ENSMUST00000094348
AA Change: H136L

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000091908
Gene: ENSMUSG00000070532
AA Change: H136L

Domain	Start	End	E-Value	Type
coiled coil region	40	69	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159701

Predicted Effect

probably benign
Transcript: ENSMUST00000175731
AA Change: H137L

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000135819
Gene: ENSMUSG00000070532
AA Change: H137L

Domain	Start	End	E-Value	Type
Pfam:DUF4697	8	275	1.4e-130	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519F16Rik	A	G	X: 102,226,868 (GRCm39)		probably benign	Het
Aldob	C	A	4: 49,541,220 (GRCm39)	V151L	probably damaging	Het
Cacna1i	G	A	15: 80,239,846 (GRCm39)	M298I	probably benign	Het
Capn3	A	G	2: 120,322,382 (GRCm39)	N414S	possibly damaging	Het
Ccdc186	G	A	19: 56,785,932 (GRCm39)	T701M	probably damaging	Het
Clhc1	G	A	11: 29,511,389 (GRCm39)	D278N	probably benign	Het
Cntnap3	T	C	13: 64,942,166 (GRCm39)	Y188C	probably damaging	Het
Dnah1	A	C	14: 31,000,095 (GRCm39)	V2466G	probably damaging	Het
Dnah8	A	G	17: 31,070,684 (GRCm39)	T4457A	probably damaging	Het
Hectd4	A	G	5: 121,487,169 (GRCm39)	Q3388R	probably benign	Het
Hecw1	T	A	13: 14,493,557 (GRCm39)	D316V	probably damaging	Het
Il1rap	T	C	16: 26,517,589 (GRCm39)	V263A	probably benign	Het
Il6	G	A	5: 30,219,839 (GRCm39)	G72S	probably benign	Het
Katnal2	T	C	18: 77,105,189 (GRCm39)	Y86C	probably damaging	Het
Kdm7a	G	T	6: 39,121,332 (GRCm39)	S874R	possibly damaging	Het
Mybpc2	T	C	7: 44,171,741 (GRCm39)		probably null	Het
Nphs1	T	G	7: 30,160,110 (GRCm39)	S130A	possibly damaging	Het
Ntrk3	C	T	7: 78,100,701 (GRCm39)	V444I	probably benign	Het
Numbl	T	C	7: 26,968,235 (GRCm39)	V144A	possibly damaging	Het
Or8g33	T	A	9: 39,337,953 (GRCm39)	Y138F	probably benign	Het
P2rx1	T	C	11: 72,903,826 (GRCm39)		probably null	Het
Pcdhb3	G	A	18: 37,436,001 (GRCm39)	V656I	probably benign	Het
Pole	A	G	5: 110,471,438 (GRCm39)	Y1394C	probably benign	Het
Pramel24	T	A	4: 143,453,585 (GRCm39)	M231K	probably damaging	Het
Rbm47	A	G	5: 66,184,081 (GRCm39)	V174A	possibly damaging	Het
Rhox4f	T	C	X: 36,786,048 (GRCm39)		probably benign	Het
Serpina12	T	C	12: 103,998,787 (GRCm39)	Y317C	probably damaging	Het
Slc12a5	T	A	2: 164,821,224 (GRCm39)	I236N	probably damaging	Het
Slc4a4	G	A	5: 89,102,657 (GRCm39)	G32R	probably damaging	Het
Slco1a4	T	C	6: 141,752,908 (GRCm39)		probably null	Het
Sorcs3	A	T	19: 48,755,542 (GRCm39)	N894I	probably damaging	Het
Stk38l	A	G	6: 146,676,900 (GRCm39)	E393G	probably benign	Het
Synpo	A	G	18: 60,736,491 (GRCm39)	I485T	possibly damaging	Het
Tenm3	T	A	8: 48,709,876 (GRCm39)	M1687L	probably benign	Het
Ttc39c	T	C	18: 12,817,952 (GRCm39)		probably benign	Het
Unc13d	T	C	11: 115,961,293 (GRCm39)	E378G	probably damaging	Het
Vmn2r118	T	A	17: 55,900,204 (GRCm39)	N567Y	probably damaging	Het

Other mutations in Ccdc190

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01696:Ccdc190	APN	1	169,761,393 (GRCm39)	missense	probably damaging	0.98
IGL02108:Ccdc190	APN	1	169,761,555 (GRCm39)	missense	probably damaging	0.99
IGL03239:Ccdc190	APN	1	169,761,549 (GRCm39)	missense	probably benign	0.00
IGL03338:Ccdc190	APN	1	169,757,544 (GRCm39)	start codon destroyed	probably null	0.53
R1341:Ccdc190	UTSW	1	169,757,586 (GRCm39)	missense	probably damaging	0.99
R4828:Ccdc190	UTSW	1	169,761,465 (GRCm39)	missense	probably damaging	0.99
R4892:Ccdc190	UTSW	1	169,757,678 (GRCm39)	missense	possibly damaging	0.95
R5023:Ccdc190	UTSW	1	169,760,656 (GRCm39)	missense	probably damaging	0.97
R5158:Ccdc190	UTSW	1	169,760,578 (GRCm39)	missense	probably benign
R6505:Ccdc190	UTSW	1	169,760,592 (GRCm39)	nonsense	probably null
R9461:Ccdc190	UTSW	1	169,761,489 (GRCm39)	missense	probably benign	0.00

Posted On

2013-04-17