Mutagenetix > Incidental Mutation

Incidental Mutation 'R5863:Ccdc185'

453995

Institutional Source

Beutler Lab

Gene Symbol

Ccdc185

Ensembl Gene

ENSMUSG00000043429

Gene Name

coiled-coil domain containing 185

Synonyms

4922505E12Rik

MMRRC Submission

043232-MU

Accession Numbers

Essential gene?

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

Stock #

R5863 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

182574691-182576745 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 182576122 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 189 (H189L)

Ref Sequence

ENSEMBL: ENSMUSP00000095053 (fasta)

Gene Model

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

AlphaFold

Q3V118

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060041
AA Change: H189L

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000095053
Gene: ENSMUSG00000043429
AA Change: H189L

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: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	C	5: 125,580,287 (GRCm39)	I204T	possibly damaging	Het
Abcc2	A	G	19: 43,786,575 (GRCm39)	I136V	probably benign	Het
Adam6a	T	C	12: 113,507,987 (GRCm39)	I120T	probably benign	Het
Add3	C	A	19: 53,222,301 (GRCm39)	L303I	probably benign	Het
Anln	A	G	9: 22,249,280 (GRCm39)	L149P	probably damaging	Het
Arhgef4	A	G	1: 34,761,926 (GRCm39)	E394G	unknown	Het
Asns	G	A	6: 7,675,443 (GRCm39)	Q520*	probably null	Het
Auh	T	G	13: 53,052,694 (GRCm39)	N141T	probably benign	Het
B3galt2	G	A	1: 143,522,104 (GRCm39)	R80Q	probably benign	Het
Bcl9	T	C	3: 97,117,666 (GRCm39)	T343A	probably benign	Het
C3	T	A	17: 57,530,141 (GRCm39)	I487F	probably benign	Het
Cast	T	C	13: 74,884,875 (GRCm39)	K326E	probably damaging	Het
Cep112	A	G	11: 108,497,058 (GRCm39)	E51G	probably damaging	Het
Cpvl	G	A	6: 53,850,413 (GRCm39)	P475S	probably damaging	Het
Cstf2t	G	T	19: 31,060,477 (GRCm39)	L4F	probably damaging	Het
Dido1	A	G	2: 180,303,566 (GRCm39)	V1446A	probably benign	Het
Dlg2	T	A	7: 91,360,987 (GRCm39)	M35K	probably benign	Het
Dnah12	C	T	14: 26,576,878 (GRCm39)	L3043F	probably damaging	Het
Fam135a	A	G	1: 24,053,863 (GRCm39)	S1225P	possibly damaging	Het
Fhod3	T	C	18: 25,258,810 (GRCm39)	F1443S	probably benign	Het
Flacc1	G	T	1: 58,730,908 (GRCm39)	H49Q	probably benign	Het
Gm14226	C	A	2: 154,866,211 (GRCm39)	T56N	probably benign	Het
Itgb4	C	T	11: 115,881,748 (GRCm39)	R766W	probably damaging	Het
Kcnj8	T	A	6: 142,511,414 (GRCm39)	I398F	probably benign	Het
Khdrbs1	G	A	4: 129,616,493 (GRCm39)	R284C	probably damaging	Het
Nog	A	G	11: 89,192,356 (GRCm39)	L164P	probably damaging	Het
Or13a18	G	A	7: 140,190,544 (GRCm39)	G155D	probably damaging	Het
Or8c20	T	C	9: 38,261,083 (GRCm39)	S235P	probably benign	Het
Pkhd1	T	A	1: 20,590,434 (GRCm39)	Q1771L	possibly damaging	Het
Prl3c1	T	A	13: 27,387,593 (GRCm39)	*193K	probably null	Het
Prpf4b	T	A	13: 35,083,111 (GRCm39)	I829N	possibly damaging	Het
Rassf1	C	T	9: 107,435,023 (GRCm39)	P103S	probably damaging	Het
Rdh16f2	A	C	10: 127,712,256 (GRCm39)	I238L	probably benign	Het
Sdk2	G	T	11: 113,725,810 (GRCm39)	D1146E	probably damaging	Het
Slc16a3	T	C	11: 120,848,779 (GRCm39)	F412L	probably benign	Het
Slc24a1	T	C	9: 64,835,824 (GRCm39)	T768A	unknown	Het
Stk32a	A	G	18: 43,448,209 (GRCm39)	N396S	probably benign	Het
Ston1	T	C	17: 88,943,373 (GRCm39)	S260P	possibly damaging	Het
Tmem135	A	G	7: 88,797,176 (GRCm39)		probably null	Het
Tmem30c	A	G	16: 57,090,418 (GRCm39)	V263A	probably benign	Het
Ttn	T	A	2: 76,587,102 (GRCm39)	T21632S	probably damaging	Het
Ube2w	A	G	1: 16,655,531 (GRCm39)	I141T	probably damaging	Het
Zbtb47	A	G	9: 121,596,596 (GRCm39)	S651G	probably benign	Het
Zscan20	A	T	4: 128,480,141 (GRCm39)	C783*	probably null	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
R1263:Ccdc185	UTSW	1	182,574,918 (GRCm39)	nonsense	probably null
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
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'- TTCTGGTCCCTCAAAGATATAACCG -3'
(R):5'- TTGCCACGAGAAAGCCACAG -3'

Sequencing Primer
(F):5'- AAGATATAACCGTCTCGTCCAGCTTG -3'
(R):5'- TGACATACGTGGCCCGAAGAC -3'

Posted On

2017-02-10