Mutagenetix > Incidental Mutation

Incidental Mutation 'R6844:Ccdc188'

534689

Institutional Source

Beutler Lab

Gene Symbol

Ccdc188

Ensembl Gene

ENSMUSG00000090777

Gene Name

coiled-coil domain containing 188

Synonyms

Gm7873

MMRRC Submission

044950-MU

Accession Numbers

Essential gene?

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

Stock #

R6844 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18035743-18038212 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 18036074 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 83 (G83E)

Ref Sequence

ENSEMBL: ENSMUSP00000156029 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076957] [ENSMUST00000167061] [ENSMUST00000231369] [ENSMUST00000231860] [ENSMUST00000231965]

AlphaFold

A0A338P6G2

Predicted Effect

probably benign
Transcript: ENSMUST00000076957

SMART Domains

Protein: ENSMUSP00000076224
Gene: ENSMUSG00000060166

Domain	Start	End	E-Value	Type
transmembrane domain	15	34	N/A	INTRINSIC
transmembrane domain	46	68	N/A	INTRINSIC
Pfam:zf-DHHC	99	224	4.8e-36	PFAM
low complexity region	304	318	N/A	INTRINSIC
low complexity region	404	417	N/A	INTRINSIC
low complexity region	509	524	N/A	INTRINSIC
low complexity region	551	563	N/A	INTRINSIC
low complexity region	619	644	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000167061
AA Change: G14E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000132278
Gene: ENSMUSG00000090777
AA Change: G14E

Domain	Start	End	E-Value	Type
low complexity region	13	36	N/A	INTRINSIC
low complexity region	60	71	N/A	INTRINSIC
coiled coil region	88	123	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000231369
AA Change: G83E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000231412

Predicted Effect

probably damaging
Transcript: ENSMUST00000231860
AA Change: G83E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000231965
AA Change: G83E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

92% (36/39)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap18	G	A	10: 26,648,682 (GRCm39)	A35T	probably benign	Het
Arhgap21	A	G	2: 20,886,116 (GRCm39)	S354P	probably benign	Het
Casq2	A	T	3: 102,017,578 (GRCm39)	H86L	possibly damaging	Het
Cd22	G	T	7: 30,572,856 (GRCm39)		probably null	Het
Cyp2b13	T	A	7: 25,781,122 (GRCm39)	I178N	probably damaging	Het
Cyp4a31	T	A	4: 115,420,989 (GRCm39)	C26S	probably null	Het
Eif3h	T	C	15: 51,728,729 (GRCm39)	D42G	possibly damaging	Het
Elovl4	T	A	9: 83,672,164 (GRCm39)	I52L	probably benign	Het
Fgfbp3	C	A	19: 36,896,280 (GRCm39)	A113S	possibly damaging	Het
Fsip2	A	T	2: 82,813,969 (GRCm39)	K3429N	possibly damaging	Het
Gemin5	T	C	11: 58,054,730 (GRCm39)	D224G	probably benign	Het
Gm3415	T	C	5: 146,494,811 (GRCm39)	I158T	probably benign	Het
Gpr22	C	A	12: 31,759,951 (GRCm39)	R20L	probably benign	Het
Htr1a	A	G	13: 105,581,455 (GRCm39)	K232E	possibly damaging	Het
Itgax	T	A	7: 127,747,106 (GRCm39)		probably null	Het
Jag2	T	C	12: 112,880,334 (GRCm39)	Y310C	probably damaging	Het
Lce1j	A	G	3: 92,696,656 (GRCm39)	S41P	unknown	Het
Mllt10	A	G	2: 18,164,294 (GRCm39)	I197V	probably benign	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Mybpc1	T	A	10: 88,372,243 (GRCm39)	I796F	possibly damaging	Het
Nr2c1	T	A	10: 94,007,029 (GRCm39)	L289*	probably null	Het
Omp	T	A	7: 97,794,283 (GRCm39)	M115L	probably benign	Het
Pdcd1	C	T	1: 93,967,106 (GRCm39)	R264H	probably benign	Het
Plxna2	T	C	1: 194,476,136 (GRCm39)	F1119L	probably benign	Het
Ralyl	A	G	3: 13,841,938 (GRCm39)	T25A	probably damaging	Het
Rapgef4	A	G	2: 72,064,970 (GRCm39)	T656A	probably damaging	Het
Ripor3	C	T	2: 167,835,253 (GRCm39)		probably null	Het
Samd8	T	C	14: 21,825,205 (GRCm39)	S54P	probably damaging	Het
Serpinb9g	A	T	13: 33,670,616 (GRCm39)	I35F	probably damaging	Het
Shisa8	T	C	15: 82,096,310 (GRCm39)	S102G	probably damaging	Het
Slc4a1ap	T	A	5: 31,684,822 (GRCm39)	S153T	probably damaging	Het
Slc4a4	T	A	5: 89,376,831 (GRCm39)	D1028E	probably damaging	Het
Slc6a13	T	A	6: 121,302,012 (GRCm39)	I198N	probably damaging	Het
Sst	C	T	16: 23,708,592 (GRCm39)	D80N	probably benign	Het
Synj2	A	G	17: 6,026,081 (GRCm39)	K47E	probably damaging	Het
Tal1	C	T	4: 114,920,464 (GRCm39)	P46L	probably benign	Het
Top2b	A	T	14: 16,429,383 (GRCm38)	N1541I	possibly damaging	Het
Vps13b	T	A	15: 35,877,736 (GRCm39)	N2903K	probably benign	Het
Zfp949	A	G	9: 88,451,464 (GRCm39)	T345A	possibly damaging	Het
Zmat3	A	G	3: 32,395,644 (GRCm39)	Y288H	probably damaging	Het

Other mutations in Ccdc188

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0309:Ccdc188	UTSW	16	18,037,169 (GRCm39)	missense	possibly damaging	0.83
R0594:Ccdc188	UTSW	16	18,036,784 (GRCm39)	missense	probably benign	0.10
R1479:Ccdc188	UTSW	16	18,037,154 (GRCm39)	missense	possibly damaging	0.92
R1757:Ccdc188	UTSW	16	18,036,552 (GRCm39)	missense	probably damaging	1.00
R1986:Ccdc188	UTSW	16	18,036,707 (GRCm39)	missense	probably damaging	0.96
R2327:Ccdc188	UTSW	16	18,037,070 (GRCm39)	missense	probably damaging	1.00
R4404:Ccdc188	UTSW	16	18,036,284 (GRCm39)	missense	probably damaging	0.98
R4690:Ccdc188	UTSW	16	18,036,159 (GRCm39)	missense	probably damaging	1.00
R4914:Ccdc188	UTSW	16	18,036,083 (GRCm39)	missense	probably benign	0.03
R5238:Ccdc188	UTSW	16	18,037,038 (GRCm39)	missense	probably damaging	1.00
R7811:Ccdc188	UTSW	16	18,036,314 (GRCm39)	missense	probably benign	0.30
R7832:Ccdc188	UTSW	16	18,036,539 (GRCm39)	missense	probably damaging	1.00
R8066:Ccdc188	UTSW	16	18,037,058 (GRCm39)	missense	probably damaging	1.00
R8101:Ccdc188	UTSW	16	18,035,876 (GRCm39)	missense	probably benign	0.00
R8194:Ccdc188	UTSW	16	18,036,244 (GRCm39)	missense	probably benign
R9671:Ccdc188	UTSW	16	18,036,268 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATGGAGGATACCTGGATCAGCC -3'
(R):5'- GATTGTTCTGCAGACCCCAG -3'

Sequencing Primer
(F):5'- ATACCTGGATCAGCCCTGTCAG -3'
(R):5'- CTAGATGAAGCTGTGGCCTTTCC -3'

Posted On

2018-09-12