Mutagenetix > Incidental Mutation

Incidental Mutation 'R5238:Ccdc188'

400542

Institutional Source

Beutler Lab

Gene Symbol

Ccdc188

Ensembl Gene

ENSMUSG00000090777

Gene Name

coiled-coil domain containing 188

Synonyms

Gm7873

MMRRC Submission

042809-MU

Accession Numbers

Essential gene?

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

Stock #

R5238 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

18035743-18038212 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18037038 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 238 (E238G)

Ref Sequence

ENSEMBL: ENSMUSP00000156197 (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: E203G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000132278
Gene: ENSMUSG00000090777
AA Change: E203G

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: E272G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000231412

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231823

Predicted Effect

probably damaging
Transcript: ENSMUST00000231860
AA Change: E238G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000231965
AA Change: E272G

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12b	T	A	12: 70,210,142 (GRCm39)		probably null	Het
Adamtsl5	C	T	10: 80,181,192 (GRCm39)	G63D	probably damaging	Het
Armc9	T	A	1: 86,127,569 (GRCm39)	M68K	probably benign	Het
Atad2	A	C	15: 57,971,733 (GRCm39)	H381Q	possibly damaging	Het
Bclaf1	T	G	10: 20,208,130 (GRCm39)		probably benign	Het
Cldn19	G	T	4: 119,112,930 (GRCm39)	C54F	probably damaging	Het
Clip1	T	C	5: 123,785,946 (GRCm39)	D246G	probably damaging	Het
Col20a1	T	C	2: 180,640,379 (GRCm39)	V512A	probably damaging	Het
Cyfip1	G	T	7: 55,541,779 (GRCm39)	A355S	probably benign	Het
Dffa	T	G	4: 149,188,760 (GRCm39)	L18R	probably benign	Het
Dnah8	G	A	17: 31,009,891 (GRCm39)	E3761K	probably damaging	Het
Dusp10	A	G	1: 183,769,210 (GRCm39)	T59A	possibly damaging	Het
Eed	T	C	7: 89,626,173 (GRCm39)	S67G	probably benign	Het
Fam181a	C	T	12: 103,282,392 (GRCm39)	A99V	probably benign	Het
Gm12185	G	A	11: 48,799,044 (GRCm39)	T483I	possibly damaging	Het
Htr3b	A	T	9: 48,848,542 (GRCm39)	C234*	probably null	Het
Kidins220	C	A	12: 25,053,009 (GRCm39)	T433K	probably benign	Het
Man2a1	T	C	17: 64,943,502 (GRCm39)	Y186H	probably damaging	Het
Mcm9	G	T	10: 53,506,093 (GRCm39)	S60R	possibly damaging	Het
Mst1r	T	A	9: 107,784,773 (GRCm39)	C144S	probably damaging	Het
Nckap5	A	G	1: 125,955,461 (GRCm39)	C364R	probably damaging	Het
Nptx2	T	C	5: 144,493,041 (GRCm39)	I376T	probably damaging	Het
Or2a14	T	C	6: 43,130,961 (GRCm39)	S241P	probably damaging	Het
Otogl	A	T	10: 107,604,834 (GRCm39)	C2191S	probably damaging	Het
Plxdc2	T	A	2: 16,655,026 (GRCm39)	F208L	probably damaging	Het
Robo3	A	C	9: 37,328,175 (GRCm39)	Y1339D	probably damaging	Het
Rsph9	G	T	17: 46,446,008 (GRCm39)	Y42*	probably null	Het
Slc39a1	T	A	3: 90,156,702 (GRCm39)	L86Q	probably null	Het
Slfn8	T	C	11: 82,904,214 (GRCm39)	D392G	probably damaging	Het
Tiprl	A	G	1: 165,043,337 (GRCm39)	V263A	probably benign	Het
Tmub2	A	G	11: 102,175,820 (GRCm39)		probably benign	Het
Trpm1	T	A	7: 63,918,702 (GRCm39)	F681I	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Uba3	A	T	6: 97,178,896 (GRCm39)	C68*	probably null	Het
Vmn1r158	T	A	7: 22,489,799 (GRCm39)	M137L	probably benign	Het
Vmn1r50	C	T	6: 90,084,465 (GRCm39)	A70V	possibly damaging	Het
Wwc1	T	C	11: 35,766,723 (GRCm39)	K511E	probably benign	Het
Zfp600	T	C	4: 146,131,741 (GRCm39)		probably null	Het
Zng1	G	T	19: 24,897,994 (GRCm39)	T382K	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
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
R9671:Ccdc188	UTSW	16	18,036,268 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AAAGAGTACTTTGTGCGGCAG -3'
(R):5'- TAACACACCCCGGATGTCCTTC -3'

Sequencing Primer
(F):5'- TACTTTGTGCGGCAGTCCCAG -3'
(R):5'- ACCCCGGATGTCCTTCTTGAG -3'

Posted On

2016-07-06