Mutagenetix > Incidental Mutation

Incidental Mutation 'R9671:Ccdc188'

728065

Institutional Source

Beutler Lab

Gene Symbol

Ccdc188

Ensembl Gene

ENSMUSG00000090777

Gene Name

coiled-coil domain containing 188

Synonyms

Gm7873

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9671 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

18035743-18038212 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 18036268 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 79 (R79*)

Ref Sequence

ENSEMBL: ENSMUSP00000132278 (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 null
Transcript: ENSMUST00000167061
AA Change: R79*

SMART Domains

Protein: ENSMUSP00000132278
Gene: ENSMUSG00000090777
AA Change: R79*

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 null
Transcript: ENSMUST00000231369
AA Change: R148*

Predicted Effect

probably benign
Transcript: ENSMUST00000231412

Predicted Effect

probably null
Transcript: ENSMUST00000231860
AA Change: R148*

Predicted Effect

probably null
Transcript: ENSMUST00000231965
AA Change: R148*

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	A	5: 64,055,948 (GRCm39)	L228*	probably null	Het
Acsf2	T	C	11: 94,460,802 (GRCm39)	D368G	probably benign	Het
Adat2	T	A	10: 13,438,452 (GRCm39)	N177K	probably damaging	Het
Adgrf5	G	T	17: 43,760,795 (GRCm39)	R830M	probably damaging	Het
Apoh	G	A	11: 108,286,792 (GRCm39)	W72*	probably null	Het
Bcl2l12	G	T	7: 44,642,301 (GRCm39)	P195Q	probably damaging	Het
Cacna1b	T	C	2: 24,596,282 (GRCm39)	M470V	probably benign	Het
Cd34	T	A	1: 194,641,501 (GRCm39)	M309K	probably damaging	Het
Clec4a2	A	T	6: 123,101,942 (GRCm39)	K32N	possibly damaging	Het
Csmd3	G	T	15: 47,845,299 (GRCm39)	P88H		Het
Def6	A	G	17: 28,438,755 (GRCm39)	S154G	probably benign	Het
Dot1l	T	C	10: 80,620,613 (GRCm39)	L530P	probably damaging	Het
Fam13a	A	G	6: 58,951,014 (GRCm39)		probably null	Het
Fat3	G	A	9: 16,286,871 (GRCm39)	A884V	possibly damaging	Het
Frem3	C	A	8: 81,339,134 (GRCm39)	H476N	probably benign	Het
Gm3404	T	C	5: 146,463,031 (GRCm39)	V71A	probably benign	Het
Hnf4g	T	G	3: 3,703,273 (GRCm39)	S53R	probably benign	Het
Ighv13-2	T	C	12: 114,321,796 (GRCm39)	N15D	probably benign	Het
Jak1	T	C	4: 101,034,926 (GRCm39)	K339E	possibly damaging	Het
Klhl35	C	G	7: 99,117,702 (GRCm39)	P82R	probably benign	Het
Klhl40	T	A	9: 121,607,743 (GRCm39)	V301E	probably benign	Het
Knl1	A	T	2: 118,901,089 (GRCm39)	N930I	probably damaging	Het
Ltbp1	A	G	17: 75,603,217 (GRCm39)		probably null	Het
Mapk7	T	C	11: 61,382,498 (GRCm39)	D68G	probably damaging	Het
Myo3b	A	G	2: 70,086,908 (GRCm39)	H852R	probably damaging	Het
Or51a6	A	T	7: 102,604,633 (GRCm39)	H58Q	probably benign	Het
Pkd2	A	G	5: 104,637,256 (GRCm39)	D623G	probably damaging	Het
Pramel14	A	C	4: 143,719,687 (GRCm39)	I226S	probably benign	Het
Rfxank	T	C	8: 70,588,198 (GRCm39)	T118A	probably benign	Het
Rxrb	T	A	17: 34,252,020 (GRCm39)		probably null	Het
Sec14l3	G	A	11: 4,025,486 (GRCm39)	V337M	probably damaging	Het
Sema3e	A	G	5: 14,212,217 (GRCm39)	T98A	probably benign	Het
Ska1	A	T	18: 74,333,010 (GRCm39)	M136K	probably damaging	Het
Slc19a3	T	C	1: 83,000,297 (GRCm39)	D240G	probably benign	Het
Snph	T	C	2: 151,436,331 (GRCm39)	Y199C	probably damaging	Het
Sorl1	A	T	9: 41,943,077 (GRCm39)	I933N	possibly damaging	Het
Spag16	C	A	1: 69,883,495 (GRCm39)	H75N	probably benign	Het
Spice1	C	T	16: 44,199,671 (GRCm39)	R708C	probably benign	Het
Tet3	C	A	6: 83,381,136 (GRCm39)	S344I	possibly damaging	Het
Trav5-4	A	G	14: 53,941,816 (GRCm39)	E63G	possibly damaging	Het
Trp73	G	A	4: 154,148,403 (GRCm39)	P337L	probably benign	Het
Ttn	A	G	2: 76,778,359 (GRCm39)	F1343L	unknown	Het
Vipas39	T	C	12: 87,292,985 (GRCm39)	H320R	probably benign	Het
Vmn2r4	T	C	3: 64,317,271 (GRCm39)	I156V	probably benign	Het
Wdr81	T	C	11: 75,345,189 (GRCm39)	D26G	probably damaging	Het
Zscan4d	A	T	7: 10,898,945 (GRCm39)	F111I	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
R6844:Ccdc188	UTSW	16	18,036,074 (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

Predicted Primers

PCR Primer
(F):5'- AGAAGCCCCTGGGATGTTTC -3'
(R):5'- CTTCTCAGGCAGGAAGCTGAAG -3'

Sequencing Primer
(F):5'- TTTCTGTCAAGCGAAGGAGAGATCC -3'
(R):5'- CTGAAGCAGGTGGGCTAGGAC -3'

Posted On

2022-10-06