Mutagenetix > Incidental Mutation

Incidental Mutation 'R4247:Ccdc97'

320465

Institutional Source

Beutler Lab

Gene Symbol

Ccdc97

Ensembl Gene

ENSMUSG00000002608

Gene Name

coiled-coil domain containing 97

Synonyms

D7Ertd462e, 2810446P04Rik, 1200014H14Rik

MMRRC Submission

041063-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R4247 (G1)

Quality Score

198

Status

Validated

Chromosome

Chromosomal Location

25410537-25418460 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 25415459 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 68 (H68P)

Ref Sequence

ENSEMBL: ENSMUSP00000002683 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002683] [ENSMUST00000125699]

AlphaFold

Q9DBT3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000002683
AA Change: H68P

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000002683
Gene: ENSMUSG00000002608
AA Change: H68P

Domain	Start	End	E-Value	Type
Pfam:DUF2052	156	327	4.1e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000125699
AA Change: H3P

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129429

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129519

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134201

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137046

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140847

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156365

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154143

Meta Mutation Damage Score

0.0845

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (41/42)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	T	C	5: 8,195,626 (GRCm39)	I305V	probably benign	Het
Aga	T	A	8: 53,964,865 (GRCm39)	L9Q	possibly damaging	Het
Akna	C	T	4: 63,313,409 (GRCm39)	G238D	probably benign	Het
Arhgap23	G	A	11: 97,354,525 (GRCm39)	E813K	probably damaging	Het
Atp13a2	T	C	4: 140,719,539 (GRCm39)		probably null	Het
Atp8a1	C	T	5: 67,824,917 (GRCm39)	G820S	probably damaging	Het
Dclre1b	A	C	3: 103,711,400 (GRCm39)		probably null	Het
Erap1	T	C	13: 74,823,414 (GRCm39)	I816T	probably damaging	Het
Fubp1	G	A	3: 151,937,573 (GRCm39)	A103T	possibly damaging	Het
Gnal	C	G	18: 67,221,654 (GRCm39)	P19R	unknown	Het
Gtf3c5	T	C	2: 28,461,196 (GRCm39)	D306G	probably damaging	Het
Hecw2	C	T	1: 53,871,804 (GRCm39)	V1381M	probably damaging	Het
Hsdl2	A	T	4: 59,594,417 (GRCm39)	N16I	probably damaging	Het
Kif14	G	T	1: 136,401,126 (GRCm39)	M492I	possibly damaging	Het
Kif27	A	G	13: 58,435,731 (GRCm39)	V1354A	probably damaging	Het
Kif9	G	T	9: 110,325,027 (GRCm39)		probably null	Het
Lmtk3	G	A	7: 45,443,486 (GRCm39)	C723Y	possibly damaging	Het
Lrrc24	A	G	15: 76,602,176 (GRCm39)	I193T	possibly damaging	Het
Or2bd2	A	G	7: 6,441,901 (GRCm39)		probably benign	Het
Or52b1	T	C	7: 104,979,355 (GRCm39)	I15V	probably benign	Het
Pkd1l1	C	T	11: 8,815,543 (GRCm39)	R1456K	possibly damaging	Het
Pramel52-ps	A	G	5: 94,531,446 (GRCm39)	D110G	possibly damaging	Het
Ranbp2	A	G	10: 58,314,686 (GRCm39)	D1802G	possibly damaging	Het
Resf1	T	A	6: 149,227,041 (GRCm39)	M29K	possibly damaging	Het
Satl1	A	G	X: 111,316,033 (GRCm39)	S141P	probably benign	Het
Scn11a	C	T	9: 119,636,952 (GRCm39)	V250M	probably damaging	Het
Slitrk1	A	G	14: 109,149,994 (GRCm39)	V239A	possibly damaging	Het
Slitrk6	T	A	14: 110,988,171 (GRCm39)	D512V	probably damaging	Het
Snx8	A	G	5: 140,341,800 (GRCm39)	L121P	probably damaging	Het
Sumf1	A	C	6: 108,131,974 (GRCm39)	V156G	probably damaging	Het
Tamalin	G	T	15: 101,122,418 (GRCm39)	R79L	possibly damaging	Het
Trp73	A	G	4: 154,149,089 (GRCm39)		probably null	Het
Tsen2	A	G	6: 115,524,785 (GRCm39)		probably benign	Het
Upp1	T	C	11: 9,084,815 (GRCm39)	I178T	probably benign	Het
Vmn2r73	A	T	7: 85,521,883 (GRCm39)	L152Q	probably damaging	Het
Vmn2r97	T	C	17: 19,167,542 (GRCm39)	S599P	possibly damaging	Het
Wrnip1	T	C	13: 32,990,866 (GRCm39)	L375P	probably damaging	Het
Zfp945	C	T	17: 23,069,583 (GRCm39)	G793D	probably damaging	Het
Zfyve9	C	A	4: 108,576,389 (GRCm39)	A231S	probably benign	Het

Other mutations in Ccdc97

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00765:Ccdc97	APN	7	25,414,277 (GRCm39)	missense	probably damaging	1.00
R0058:Ccdc97	UTSW	7	25,415,405 (GRCm39)	missense	probably benign	0.16
R0369:Ccdc97	UTSW	7	25,413,833 (GRCm39)	missense	probably damaging	0.97
R0617:Ccdc97	UTSW	7	25,413,845 (GRCm39)	missense	probably damaging	1.00
R3845:Ccdc97	UTSW	7	25,414,453 (GRCm39)	splice site	probably benign
R4747:Ccdc97	UTSW	7	25,418,348 (GRCm39)	splice site	probably null
R5298:Ccdc97	UTSW	7	25,415,432 (GRCm39)	missense	probably damaging	1.00
R5310:Ccdc97	UTSW	7	25,415,201 (GRCm39)	missense	probably damaging	1.00
R6189:Ccdc97	UTSW	7	25,415,523 (GRCm39)	missense	probably benign	0.02
R6812:Ccdc97	UTSW	7	25,412,469 (GRCm39)	missense	probably damaging	0.99
R6971:Ccdc97	UTSW	7	25,414,384 (GRCm39)	nonsense	probably null
R8482:Ccdc97	UTSW	7	25,414,427 (GRCm39)	missense	probably damaging	1.00
R8926:Ccdc97	UTSW	7	25,412,494 (GRCm39)	missense	probably benign	0.45
R9105:Ccdc97	UTSW	7	25,412,537 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGTAGAAATCAGCACGGTGGTC -3'
(R):5'- CTTCCCCTGATGCCCTTAACTAAAG -3'

Sequencing Primer
(F):5'- TGGTCTCCACGCAGATGG -3'
(R):5'- TAAAGACTCCTCTTGACTCTCAGACG -3'

Posted On

2015-06-12