Mutagenetix > Incidental Mutation

Incidental Mutation 'R3765:Ccdc185'

274634

Institutional Source

Beutler Lab

Gene Symbol

Ccdc185

Ensembl Gene

ENSMUSG00000043429

Gene Name

coiled-coil domain containing 185

Synonyms

4922505E12Rik

MMRRC Submission

040742-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R3765 (G1)

Quality Score

220

Status

Not validated

Chromosome

Chromosomal Location

182747126-182749180 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 182747552 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 524 (H524L)

Ref Sequence

ENSEMBL: ENSMUSP00000095053 (fasta)

Gene Model

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

AlphaFold

Q3V118

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060041
AA Change: H524L

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000095053
Gene: ENSMUSG00000043429
AA Change: H524L

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: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	T	C	7: 75,608,837	V403A	probably benign	Het
Arid2	T	C	15: 96,370,714	S903P	probably benign	Het
Arl6ip6	T	A	2: 53,192,231	W37R	probably damaging	Het
Bag3	C	T	7: 128,540,271	T162I	probably benign	Het
C4b	G	A	17: 34,729,840	P1545S	probably damaging	Het
Cfap43	T	C	19: 47,835,575	N119S	probably benign	Het
Churc1	C	A	12: 76,773,283	S22*	probably null	Het
Crbn	T	C	6: 106,795,026	K106E	possibly damaging	Het
Dag1	C	T	9: 108,208,199	G581E	probably damaging	Het
Dpp4	T	A	2: 62,386,436	T92S	probably benign	Het
Fam135a	T	C	1: 24,055,877	T137A	possibly damaging	Het
Fermt1	T	C	2: 132,906,702	D667G	possibly damaging	Het
Foxl2	T	A	9: 98,955,986	I109N	probably damaging	Het
Frk	A	G	10: 34,484,005	M1V	probably null	Het
Fuk	A	G	8: 110,887,104	I775T	probably benign	Het
Gstm2	A	G	3: 107,984,030	F124S	probably damaging	Het
Hmcn1	T	C	1: 150,745,025	S1145G	possibly damaging	Het
Ints10	A	G	8: 68,825,119	T682A	possibly damaging	Het
Jmy	T	C	13: 93,464,711	M396V	possibly damaging	Het
Ldb3	A	T	14: 34,578,682		probably null	Het
Mre11a	A	G	9: 14,809,847	N354S	probably benign	Het
Nbea	A	G	3: 56,005,549	V939A	probably damaging	Het
Nphs1	T	C	7: 30,471,210	S928P	probably damaging	Het
Olfr1463	G	A	19: 13,234,431	M60I	probably damaging	Het
Olfr19	A	G	16: 16,673,315	V222A	probably benign	Het
Olfr311	T	C	11: 58,841,294	F60S	probably damaging	Het
Olfr954	T	A	9: 39,461,624	Y61*	probably null	Het
Pla2g12b	G	A	10: 59,421,501	V169M	probably damaging	Het
Polr1c	C	T	17: 46,247,924	V14M	probably damaging	Het
Prg4	G	A	1: 150,451,371	S898L	probably damaging	Het
Prmt6	C	A	3: 110,250,194	E260*	probably null	Het
Ptx4	A	G	17: 25,122,868	T106A	probably benign	Het
Rab3il1	A	G	19: 10,028,309	T87A	probably damaging	Het
Sbf2	A	G	7: 110,375,581	V783A	probably damaging	Het
Scn2a	A	C	2: 65,682,710	D209A	possibly damaging	Het
Setd2	T	C	9: 110,594,246	L345P	probably damaging	Het
Slc18b1	A	G	10: 23,798,749	D34G	probably damaging	Het
Slc9c1	A	T	16: 45,590,881	M934L	possibly damaging	Het
Slx4	A	G	16: 3,980,986	V1357A	probably damaging	Het
Spidr	T	C	16: 15,968,640	E413G	probably benign	Het
Taar1	A	G	10: 23,921,307	Y301C	probably damaging	Het
Tada2b	A	T	5: 36,476,417	D197E	probably benign	Het
Taf1c	G	T	8: 119,600,485	Y418*	probably null	Het
Tanc2	A	G	11: 105,914,970	D394G	probably damaging	Het
Tnpo3	T	C	6: 29,579,689	D235G	probably benign	Het
Tns3	G	A	11: 8,451,133	A1055V	probably benign	Het
Wdfy3	A	G	5: 101,861,400	Y2767H	probably damaging	Het
Zfhx3	A	G	8: 108,792,762	N172S	probably damaging	Het
Zfp839	T	C	12: 110,855,163	V137A	probably benign	Het

Other mutations in Ccdc185

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01024:Ccdc185	APN	1	182747423	missense	possibly damaging	0.85
IGL01121:Ccdc185	APN	1	182748657	missense	probably benign	0.33
IGL01143:Ccdc185	APN	1	182747852	missense	probably damaging	0.98
IGL01721:Ccdc185	APN	1	182748978	missense	possibly damaging	0.53
IGL01941:Ccdc185	APN	1	182748204	missense	probably benign	0.32
IGL01945:Ccdc185	APN	1	182748876	missense	probably benign	0.33
IGL03333:Ccdc185	APN	1	182748833	missense	probably damaging	1.00
Ratas	UTSW	1	182749017	missense	possibly damaging	0.73
Ratones	UTSW	1	182747520	missense	possibly damaging	0.52
R0486:Ccdc185	UTSW	1	182747859	missense	possibly damaging	0.86
R0653:Ccdc185	UTSW	1	182747564	missense	possibly damaging	0.52
R1263:Ccdc185	UTSW	1	182747353	nonsense	probably null
R1450:Ccdc185	UTSW	1	182747564	missense	possibly damaging	0.71
R1464:Ccdc185	UTSW	1	182748698	missense	probably benign
R1464:Ccdc185	UTSW	1	182748698	missense	probably benign
R2146:Ccdc185	UTSW	1	182747520	missense	possibly damaging	0.52
R3409:Ccdc185	UTSW	1	182748748	missense	possibly damaging	0.73
R3410:Ccdc185	UTSW	1	182748748	missense	possibly damaging	0.73
R4012:Ccdc185	UTSW	1	182748888	missense	possibly damaging	0.91
R4953:Ccdc185	UTSW	1	182749017	missense	possibly damaging	0.73
R5096:Ccdc185	UTSW	1	182748789	missense	possibly damaging	0.73
R5166:Ccdc185	UTSW	1	182748999	nonsense	probably null
R5300:Ccdc185	UTSW	1	182748080	missense	probably benign	0.00
R5504:Ccdc185	UTSW	1	182747627	missense	probably damaging	0.97
R5863:Ccdc185	UTSW	1	182748557	missense	possibly damaging	0.53
R5928:Ccdc185	UTSW	1	182747482	missense	probably benign	0.00
R7127:Ccdc185	UTSW	1	182748856	missense	possibly damaging	0.70
R8125:Ccdc185	UTSW	1	182747270	missense	probably benign	0.10
R8197:Ccdc185	UTSW	1	182748759	missense	possibly damaging	0.93
R9248:Ccdc185	UTSW	1	182748656	missense	probably benign	0.33
Z1177:Ccdc185	UTSW	1	182748514	missense	possibly damaging	0.72

Predicted Primers

PCR Primer
(F):5'- GGTCATCTGCGCTAACCTTTG -3'
(R):5'- GAACTCCTCAGGAAGCTGTC -3'

Sequencing Primer
(F):5'- AACCTTTGTTCCTTCTTCTTGATGG -3'
(R):5'- AGCAGAGTTCCCAGAGCTC -3'

Posted On

2015-04-02