Mutagenetix > Incidental Mutation

Incidental Mutation 'R4201:Ccdc172'

318777

Institutional Source

Beutler Lab

Gene Symbol

Ccdc172

Ensembl Gene

ENSMUSG00000025090

Gene Name

coiled-coil domain containing 172

Synonyms

1700011F14Rik

MMRRC Submission

041031-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R4201 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58500424-58541517 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 58525017 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 158 (R158H)

Ref Sequence

ENSEMBL: ENSMUSP00000068972 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069419]

AlphaFold

Q810N9

Predicted Effect

probably benign
Transcript: ENSMUST00000069419
AA Change: R158H

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000068972
Gene: ENSMUSG00000025090
AA Change: R158H

Domain	Start	End	E-Value	Type
coiled coil region	14	70	N/A	INTRINSIC
coiled coil region	128	192	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	A	G	18: 6,623,952 (GRCm39)		probably null	Het
Als2	A	T	1: 59,219,313 (GRCm39)	D1212E	possibly damaging	Het
Arfgef3	A	G	10: 18,495,530 (GRCm39)	S1167P	probably benign	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Atp1b2	A	G	11: 69,494,295 (GRCm39)	V66A	possibly damaging	Het
Bag3	C	A	7: 128,147,881 (GRCm39)	L499I	probably damaging	Het
Boc	T	C	16: 44,310,981 (GRCm39)	D751G	probably damaging	Het
Camk1d	T	C	2: 5,359,587 (GRCm39)	Y145C	probably benign	Het
Cd101	A	C	3: 100,926,001 (GRCm39)	D239E	probably damaging	Het
Cd9	T	C	6: 125,439,357 (GRCm39)	D125G	possibly damaging	Het
Cep295	T	C	9: 15,243,834 (GRCm39)	I1493V	probably benign	Het
Chrna5	A	G	9: 54,905,359 (GRCm39)	D57G	probably benign	Het
Cul7	C	T	17: 46,972,238 (GRCm39)	R1201W	probably damaging	Het
Dnah1	A	G	14: 30,984,227 (GRCm39)	V3976A	probably benign	Het
Dnah11	T	C	12: 117,930,394 (GRCm39)	D3317G	possibly damaging	Het
Dnmt3b	G	T	2: 153,512,337 (GRCm39)	E353*	probably null	Het
Gch1	T	C	14: 47,393,260 (GRCm39)	S241G	probably benign	Het
Gpr22	A	T	12: 31,758,912 (GRCm39)	Y366*	probably null	Het
Gse1	A	T	8: 121,294,503 (GRCm39)	M277L	probably benign	Het
Kcnt2	G	A	1: 140,353,070 (GRCm39)	V260I	probably damaging	Het
Nbas	G	T	12: 13,424,827 (GRCm39)	C1022F	probably benign	Het
Nfix	CAAAAA	CAAAA	8: 85,442,876 (GRCm39)		probably null	Het
Or6c206	T	C	10: 129,097,646 (GRCm39)	V272A	probably benign	Het
Or6c214	A	T	10: 129,590,497 (GRCm39)	L274H	probably damaging	Het
Parp4	C	A	14: 56,829,848 (GRCm39)	T274K	possibly damaging	Het
Pgs1	A	G	11: 117,893,362 (GRCm39)	S230G	probably damaging	Het
Plin4	T	G	17: 56,411,338 (GRCm39)	T898P	probably damaging	Het
Ptprj	A	C	2: 90,293,439 (GRCm39)	V548G	probably damaging	Het
Sec23a	T	C	12: 59,048,791 (GRCm39)	I139M	probably benign	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Stx17	T	A	4: 48,158,870 (GRCm39)	D83E	probably damaging	Het
Syne1	A	T	10: 5,297,870 (GRCm39)	D1142E	probably benign	Het
Tbccd1	A	G	16: 22,644,698 (GRCm39)	V226A	probably damaging	Het
Tex11	C	A	X: 99,977,021 (GRCm39)	A487S	possibly damaging	Het
Tmed7	A	G	18: 46,726,314 (GRCm39)		probably null	Het
Tnfrsf23	A	T	7: 143,223,791 (GRCm39)	C137S	probably damaging	Het
Vmn2r87	T	C	10: 130,308,448 (GRCm39)	I597V	probably benign	Het

Other mutations in Ccdc172

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01977:Ccdc172	APN	19	58,541,309 (GRCm39)	missense	possibly damaging	0.63
R6601:Ccdc172	UTSW	19	58,525,723 (GRCm39)	missense	possibly damaging	0.87
R8306:Ccdc172	UTSW	19	58,525,022 (GRCm39)	missense	probably damaging	0.96
R8476:Ccdc172	UTSW	19	58,541,270 (GRCm39)	splice site	probably null
R9130:Ccdc172	UTSW	19	58,525,779 (GRCm39)	missense	possibly damaging	0.54
X0028:Ccdc172	UTSW	19	58,525,726 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

Posted On

2015-06-10