Mutagenetix > Incidental Mutation

Incidental Mutation 'R7811:Ccdc188'

601190

Institutional Source

Beutler Lab

Gene Symbol

Ccdc188

Ensembl Gene

ENSMUSG00000090777

Gene Name

coiled-coil domain containing 188

Synonyms

Gm7873

MMRRC Submission

045866-MU

Accession Numbers

Essential gene?

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

Stock #

R7811 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18035743-18038212 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18036314 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 94 (E94G)

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 benign
Transcript: ENSMUST00000167061
AA Change: E94G

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000132278
Gene: ENSMUSG00000090777
AA Change: E94G

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

possibly damaging
Transcript: ENSMUST00000231369
AA Change: E163G

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000231412

Predicted Effect

probably damaging
Transcript: ENSMUST00000231860
AA Change: E163G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000231965
AA Change: E163G

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,527,141 (GRCm39)		probably null	Het
Abca3	A	G	17: 24,616,362 (GRCm39)	T935A	probably benign	Het
Anxa7	A	T	14: 20,510,254 (GRCm39)	Y399N	probably benign	Het
Arhgef10l	G	T	4: 140,242,335 (GRCm39)	T1030K	possibly damaging	Het
Ass1	G	A	2: 31,404,753 (GRCm39)	V345I	probably benign	Het
Bms1	T	C	6: 118,380,099 (GRCm39)	D736G	probably damaging	Het
Bpifb1	T	A	2: 154,048,484 (GRCm39)		probably null	Het
Cbx4	A	C	11: 118,972,398 (GRCm39)	C326G	probably benign	Het
Cdh5	A	G	8: 104,852,235 (GRCm39)	T117A	possibly damaging	Het
Cdk11b	A	G	4: 155,724,359 (GRCm39)	T326A	unknown	Het
Clec5a	C	T	6: 40,558,867 (GRCm39)	C73Y	probably damaging	Het
Cntrl	T	C	2: 35,052,873 (GRCm39)	M1126T	probably benign	Het
Diaph3	T	C	14: 87,219,060 (GRCm39)	D455G	probably damaging	Het
Eml2	T	A	7: 18,920,047 (GRCm39)	M117K	probably benign	Het
Ern1	A	T	11: 106,325,694 (GRCm39)	V112D	unknown	Het
Eya3	T	C	4: 132,439,272 (GRCm39)	I466T	possibly damaging	Het
Fbxl6	T	C	15: 76,421,485 (GRCm39)		probably null	Het
Ffar1	A	G	7: 30,560,802 (GRCm39)	S32P	possibly damaging	Het
Fgb	T	C	3: 82,957,004 (GRCm39)	D22G	probably benign	Het
Fsip2	T	C	2: 82,828,797 (GRCm39)	Y6865H	possibly damaging	Het
Gbx1	T	C	5: 24,710,035 (GRCm39)	E270G	probably damaging	Het
Golga4	T	C	9: 118,361,643 (GRCm39)	L207P	probably damaging	Het
Hnrnpa1	T	C	15: 103,149,900 (GRCm39)	S54P	possibly damaging	Het
Htr4	A	G	18: 62,545,269 (GRCm39)	E18G	possibly damaging	Het
Ide	A	C	19: 37,307,910 (GRCm39)	L34R		Het
Ip6k3	A	T	17: 27,376,557 (GRCm39)	Y51*	probably null	Het
Keap1	A	G	9: 21,148,956 (GRCm39)	L17P	possibly damaging	Het
Lrrn2	T	C	1: 132,866,939 (GRCm39)	V668A	probably benign	Het
Lypd8	A	T	11: 58,281,064 (GRCm39)	T209S	possibly damaging	Het
Myo10	T	C	15: 25,804,610 (GRCm39)	I1635T	probably damaging	Het
Myo1e	T	A	9: 70,234,544 (GRCm39)	V299E	probably damaging	Het
Nadk	A	T	4: 155,661,332 (GRCm39)		probably benign	Het
Nalcn	A	T	14: 123,536,357 (GRCm39)	W1231R	probably damaging	Het
Odf2l	A	G	3: 144,859,148 (GRCm39)	T602A	probably benign	Het
Or13g1	T	A	7: 85,955,554 (GRCm39)	T256S	probably damaging	Het
Or2r3	T	A	6: 42,448,635 (GRCm39)	E159V	probably damaging	Het
Pde6c	T	C	19: 38,128,507 (GRCm39)	V190A	possibly damaging	Het
Ppp4r3a	C	A	12: 101,019,821 (GRCm39)	R378L	probably damaging	Het
Pus7l	A	C	15: 94,438,707 (GRCm39)	V46G	probably damaging	Het
Satb2	G	A	1: 56,884,880 (GRCm39)	S466L	probably benign	Het
Serpina6	A	G	12: 103,620,395 (GRCm39)	M118T	probably damaging	Het
Slc29a1	T	C	17: 45,897,189 (GRCm39)	R366G	probably damaging	Het
Slc6a1	T	C	6: 114,279,515 (GRCm39)	F98S	probably damaging	Het
Spg7	T	C	8: 123,824,164 (GRCm39)	I738T	possibly damaging	Het
Srcap	T	C	7: 127,141,221 (GRCm39)	V1667A	probably damaging	Het
Stxbp5	T	C	10: 9,684,248 (GRCm39)	N574S	probably benign	Het
Syne2	A	G	12: 76,030,501 (GRCm39)		probably null	Het
Tbc1d10a	T	C	11: 4,136,948 (GRCm39)	S54P	possibly damaging	Het
Trim12c	T	C	7: 103,990,469 (GRCm39)	N336S	unknown	Het
Ubap2	T	C	4: 41,211,710 (GRCm39)	S351G	probably benign	Het
Unc13c	G	T	9: 73,600,553 (GRCm39)	A1397E	possibly damaging	Het
Ush1c	G	A	7: 45,854,710 (GRCm39)	R681*	probably null	Het
Vmn2r57	A	T	7: 41,074,439 (GRCm39)	C541*	probably null	Het
Vmn2r73	T	C	7: 85,524,956 (GRCm39)	D64G	possibly damaging	Het
Vmn2r88	A	T	14: 51,656,160 (GRCm39)	T790S		Het
Zfp568	A	G	7: 29,697,295 (GRCm39)	T72A	possibly damaging	Het
Zfp950	A	T	19: 61,108,353 (GRCm39)	Y243*	probably null	Het
Zmym5	A	G	14: 57,036,434 (GRCm39)	S238P	probably damaging	Het
Zswim5	A	G	4: 116,734,673 (GRCm39)	E6G	unknown	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
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'- TCAAGCGAAGGAGAGATCCC -3'
(R):5'- CATAGAGGTAGGAACTGCTGCC -3'

Sequencing Primer
(F):5'- ATCCCACGACGGAGAGCTC -3'
(R):5'- CGAAGGTCCTGGTTCTGC -3'

Posted On

2019-11-26