Mutagenetix > Incidental Mutation

Incidental Mutation 'R1263:Ccdc185'

151640

Institutional Source

Beutler Lab

Gene Symbol

Ccdc185

Ensembl Gene

ENSMUSG00000043429

Gene Name

coiled-coil domain containing 185

Synonyms

4922505E12Rik

MMRRC Submission

039330-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R1263 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

182574691-182576745 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 182574918 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 590 (Y590*)

Ref Sequence

ENSEMBL: ENSMUSP00000095053 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060041]

AlphaFold

Q3V118

Predicted Effect

probably null
Transcript: ENSMUST00000060041
AA Change: Y590*

SMART Domains

Protein: ENSMUSP00000095053
Gene: ENSMUSG00000043429
AA Change: Y590*

Domain	Start	End	E-Value	Type
low complexity region	117	131	N/A	INTRINSIC
Pfam:DUF4659	239	618	3.2e-119	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	C	11: 109,832,433 (GRCm39)	H1231Q	possibly damaging	Het
Acbd4	T	A	11: 102,994,677 (GRCm39)		probably null	Het
Atp13a4	T	A	16: 29,290,771 (GRCm39)	Y226F	possibly damaging	Het
Brd3	A	C	2: 27,352,534 (GRCm39)	F132C	probably damaging	Het
Btaf1	A	T	19: 36,933,924 (GRCm39)	N184I	probably benign	Het
Ccdc180	A	G	4: 45,903,887 (GRCm39)	E351G	possibly damaging	Het
Chi3l1	G	A	1: 134,116,980 (GRCm39)	E315K	probably benign	Het
Col6a6	T	A	9: 105,586,688 (GRCm39)	M1778L	probably benign	Het
Cyp3a59	A	C	5: 146,041,521 (GRCm39)	Y355S	probably damaging	Het
Cyp4a31	A	G	4: 115,431,908 (GRCm39)	T396A	probably benign	Het
Dnaaf6rt	A	T	1: 31,262,296 (GRCm39)	I93F	probably damaging	Het
Dnah6	A	T	6: 73,121,948 (GRCm39)	I1373N	probably damaging	Het
Dop1b	C	A	16: 93,574,274 (GRCm39)	H1598N	probably benign	Het
Erich4	T	A	7: 25,314,559 (GRCm39)	K118M	probably damaging	Het
Gkap1	A	T	13: 58,403,587 (GRCm39)	V179E	probably benign	Het
Gpr107	T	G	2: 31,068,267 (GRCm39)	I243S	possibly damaging	Het
Hs3st6	A	G	17: 24,977,504 (GRCm39)	N328S	probably damaging	Het
Kcnq5	A	T	1: 21,549,602 (GRCm39)	I375N	probably damaging	Het
Klhdc3	A	T	17: 46,987,892 (GRCm39)	H266Q	probably benign	Het
Krt71	C	T	15: 101,643,901 (GRCm39)	G446R	probably damaging	Het
L3mbtl2	A	G	15: 81,567,169 (GRCm39)	T423A	probably benign	Het
Mical3	T	C	6: 120,929,430 (GRCm39)	E1812G	probably damaging	Het
Nlrp1a	A	G	11: 70,987,948 (GRCm39)	I1174T	probably benign	Het
Npas2	C	A	1: 39,373,849 (GRCm39)	Q450K	possibly damaging	Het
Nrp1	T	A	8: 129,194,870 (GRCm39)	I442N	probably damaging	Het
Or1j10	T	A	2: 36,267,006 (GRCm39)	S73T	probably damaging	Het
Or2y1	A	T	11: 49,385,848 (GRCm39)	M163L	probably benign	Het
Palld	TGCGTAGCG	TGCG	8: 61,966,491 (GRCm39)		probably null	Het
Pold3	T	A	7: 99,768,890 (GRCm39)	Q36L	possibly damaging	Het
Polg	T	C	7: 79,109,534 (GRCm39)	T428A	probably benign	Het
Rfx7	T	A	9: 72,484,329 (GRCm39)	V57E	possibly damaging	Het
Rnf122	T	G	8: 31,602,177 (GRCm39)	M1R	probably null	Het
Sanbr	A	T	11: 23,570,278 (GRCm39)	Y207*	probably null	Het
Scn10a	T	A	9: 119,446,799 (GRCm39)	T1410S	probably damaging	Het
Serpinb13	T	A	1: 106,928,466 (GRCm39)	V362E	probably damaging	Het
Setdb1	T	C	3: 95,234,922 (GRCm39)	N927S	probably damaging	Het
Sft2d1	A	G	17: 8,539,470 (GRCm39)	K91R	probably benign	Het
Shprh	A	G	10: 11,035,274 (GRCm39)	H327R	probably damaging	Het
Slc9b2	C	A	3: 135,042,156 (GRCm39)	H478Q	probably benign	Het
Styxl1	G	T	5: 135,782,737 (GRCm39)	S117R	probably damaging	Het
Synj2	T	C	17: 6,069,634 (GRCm39)	F150L	probably damaging	Het
Tep1	C	A	14: 51,082,970 (GRCm39)	V1013L	possibly damaging	Het
Tgfbi	T	A	13: 56,778,468 (GRCm39)	L413Q	probably damaging	Het
Tmc5	G	A	7: 118,266,093 (GRCm39)	R789Q	probably damaging	Het
Tonsl	T	A	15: 76,506,762 (GRCm39)	I115F	possibly damaging	Het
Trim38	A	G	13: 23,975,117 (GRCm39)	Y352C	probably damaging	Het
Txnl4a	T	A	18: 80,250,536 (GRCm39)	V44D	probably benign	Het
Vars2	A	G	17: 35,972,501 (GRCm39)	V39A	probably damaging	Het
Vmn2r105	A	G	17: 20,428,584 (GRCm39)	C831R	probably damaging	Het
Vmn2r26	T	A	6: 124,027,667 (GRCm39)	I469N	probably benign	Het
Vmn2r53	T	C	7: 12,315,533 (GRCm39)	Y762C	probably benign	Het
Vps13d	T	A	4: 144,896,918 (GRCm39)	Q334L	probably benign	Het
Zfp277	A	T	12: 40,414,164 (GRCm39)	I227N	probably damaging	Het

Other mutations in Ccdc185

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01024:Ccdc185	APN	1	182,574,988 (GRCm39)	missense	possibly damaging	0.85
IGL01121:Ccdc185	APN	1	182,576,222 (GRCm39)	missense	probably benign	0.33
IGL01143:Ccdc185	APN	1	182,575,417 (GRCm39)	missense	probably damaging	0.98
IGL01721:Ccdc185	APN	1	182,576,543 (GRCm39)	missense	possibly damaging	0.53
IGL01941:Ccdc185	APN	1	182,575,769 (GRCm39)	missense	probably benign	0.32
IGL01945:Ccdc185	APN	1	182,576,441 (GRCm39)	missense	probably benign	0.33
IGL03333:Ccdc185	APN	1	182,576,398 (GRCm39)	missense	probably damaging	1.00
Ratas	UTSW	1	182,576,582 (GRCm39)	missense	possibly damaging	0.73
Ratones	UTSW	1	182,575,085 (GRCm39)	missense	possibly damaging	0.52
R0486:Ccdc185	UTSW	1	182,575,424 (GRCm39)	missense	possibly damaging	0.86
R0653:Ccdc185	UTSW	1	182,575,129 (GRCm39)	missense	possibly damaging	0.52
R1450:Ccdc185	UTSW	1	182,575,129 (GRCm39)	missense	possibly damaging	0.71
R1464:Ccdc185	UTSW	1	182,576,263 (GRCm39)	missense	probably benign
R1464:Ccdc185	UTSW	1	182,576,263 (GRCm39)	missense	probably benign
R2146:Ccdc185	UTSW	1	182,575,085 (GRCm39)	missense	possibly damaging	0.52
R3409:Ccdc185	UTSW	1	182,576,313 (GRCm39)	missense	possibly damaging	0.73
R3410:Ccdc185	UTSW	1	182,576,313 (GRCm39)	missense	possibly damaging	0.73
R3765:Ccdc185	UTSW	1	182,575,117 (GRCm39)	missense	possibly damaging	0.71
R4012:Ccdc185	UTSW	1	182,576,453 (GRCm39)	missense	possibly damaging	0.91
R4953:Ccdc185	UTSW	1	182,576,582 (GRCm39)	missense	possibly damaging	0.73
R5096:Ccdc185	UTSW	1	182,576,354 (GRCm39)	missense	possibly damaging	0.73
R5166:Ccdc185	UTSW	1	182,576,564 (GRCm39)	nonsense	probably null
R5300:Ccdc185	UTSW	1	182,575,645 (GRCm39)	missense	probably benign	0.00
R5504:Ccdc185	UTSW	1	182,575,192 (GRCm39)	missense	probably damaging	0.97
R5863:Ccdc185	UTSW	1	182,576,122 (GRCm39)	missense	possibly damaging	0.53
R5928:Ccdc185	UTSW	1	182,575,047 (GRCm39)	missense	probably benign	0.00
R7127:Ccdc185	UTSW	1	182,576,421 (GRCm39)	missense	possibly damaging	0.70
R8125:Ccdc185	UTSW	1	182,574,835 (GRCm39)	missense	probably benign	0.10
R8197:Ccdc185	UTSW	1	182,576,324 (GRCm39)	missense	possibly damaging	0.93
R9248:Ccdc185	UTSW	1	182,576,221 (GRCm39)	missense	probably benign	0.33
Z1177:Ccdc185	UTSW	1	182,576,079 (GRCm39)	missense	possibly damaging	0.72

Predicted Primers

PCR Primer
(F):5'- TGGGAAACTGCTCCAGCTTCACAC -3'
(R):5'- CTGCGCGAGAGGAACCATCATATC -3'

Sequencing Primer
(F):5'- GCTTCTAGATTCCTTGAGAGACACTG -3'
(R):5'- TCATATCTTGAAGCTGACAGCGG -3'

Posted On

2014-01-29