Mutagenetix > Incidental Mutation

Incidental Mutation 'R7307:Ccdc85a'

567326

Institutional Source

Beutler Lab

Gene Symbol

Ccdc85a

Ensembl Gene

ENSMUSG00000032878

Gene Name

coiled-coil domain containing 85A

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.372) question?

Stock #

R7307 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

28385685-28584324 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28399384 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 474 (S474P)

Ref Sequence

ENSEMBL: ENSMUSP00000124972 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042534] [ENSMUST00000093253] [ENSMUST00000109502] [ENSMUST00000146385] [ENSMUST00000160016]

AlphaFold

Q5SP85

Predicted Effect

probably benign
Transcript: ENSMUST00000042534

SMART Domains

Protein: ENSMUSP00000044649
Gene: ENSMUSG00000032878

Domain	Start	End	E-Value	Type
low complexity region	4	23	N/A	INTRINSIC
Pfam:DUF2216	26	219	6e-103	PFAM
internal_repeat_1	297	368	2.42e-23	PROSPERO
low complexity region	371	380	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000093253

SMART Domains

Protein: ENSMUSP00000090941
Gene: ENSMUSG00000032878

Domain	Start	End	E-Value	Type
low complexity region	4	23	N/A	INTRINSIC
Pfam:DUF2216	26	219	7.3e-103	PFAM
internal_repeat_1	297	368	4.37e-22	PROSPERO
low complexity region	371	380	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109502

SMART Domains

Protein: ENSMUSP00000105128
Gene: ENSMUSG00000032878

Domain	Start	End	E-Value	Type
low complexity region	4	23	N/A	INTRINSIC
Pfam:DUF2216	26	225	2.1e-85	PFAM
internal_repeat_1	269	340	3.64e-23	PROSPERO
low complexity region	343	352	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000140601

Predicted Effect

probably benign
Transcript: ENSMUST00000146385
AA Change: S474P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000124972
Gene: ENSMUSG00000032878
AA Change: S474P

Domain	Start	End	E-Value	Type
low complexity region	4	23	N/A	INTRINSIC
Pfam:DUF2216	28	219	1.4e-100	PFAM
internal_repeat_1	297	368	7.15e-22	PROSPERO
low complexity region	371	380	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000160016
AA Change: S81P

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (75/75)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	G	A	16: 17,118,395	P155L	probably benign	Het
Adamts12	G	T	15: 11,217,813	L285F	probably damaging	Het
Ankrd6	A	T	4: 32,816,949	Y393N	possibly damaging	Het
Arhgap45	A	G	10: 80,029,182	Q993R	probably benign	Het
Arhgef33	G	C	17: 80,347,120		probably null	Het
B4galnt3	T	C	6: 120,215,431	D448G	probably benign	Het
Capn1	C	G	19: 5,993,908	E564D	possibly damaging	Het
Cdk12	T	A	11: 98,249,800	L1289*	probably null	Het
Cramp1l	A	T	17: 24,974,745	N920K	possibly damaging	Het
Cubn	C	T	2: 13,340,332	S2091N	probably damaging	Het
Ddx1	A	T	12: 13,223,959	I581N	probably damaging	Het
Dnm2	A	T	9: 21,485,687	N487Y	probably damaging	Het
Enc1	A	C	13: 97,245,093	N37T	probably damaging	Het
Ephb3	T	G	16: 21,222,226	I932S	probably benign	Het
Frk	T	A	10: 34,591,938	M316K	probably damaging	Het
Gdap2	C	T	3: 100,202,033	R25C	unknown	Het
Gm10436	A	C	12: 88,181,749	C32W	probably damaging	Het
Gpat2	T	A	2: 127,434,890	D671E	probably damaging	Het
Gpr179	C	T	11: 97,338,846	E828K	probably benign	Het
Greb1l	T	C	18: 10,538,142	Y1052H	probably damaging	Het
Gtf2f1	C	T	17: 57,007,833	S69N	probably damaging	Het
Hid1	A	C	11: 115,348,482	I785S	probably damaging	Het
Hmcn2	T	C	2: 31,343,081	I214T	probably damaging	Het
Hsd3b5	G	T	3: 98,619,769	F120L	probably damaging	Het
Kif16b	C	T	2: 142,712,931	R649Q	probably benign	Het
Kif17	A	T	4: 138,262,643	E47D	probably benign	Het
Kmt2b	T	C	7: 30,580,471	H1368R	probably damaging	Het
Kmt2d	A	T	15: 98,849,418	S3342T	unknown	Het
Krt82	A	G	15: 101,542,907	C356R	probably damaging	Het
Lrit2	A	G	14: 37,072,199	K407E	probably benign	Het
Malt1	T	A	18: 65,451,569	H325Q	possibly damaging	Het
Mccc2	T	G	13: 99,988,600	D187A	possibly damaging	Het
Mgll	T	A	6: 88,814,121		probably null	Het
Mindy2	T	G	9: 70,610,959	E449A	possibly damaging	Het
Muc5b	G	A	7: 141,842,294	V96M	unknown	Het
Nlrp4e	A	G	7: 23,321,528	E480G	probably benign	Het
Nup98	A	G	7: 102,134,795	I1093T	probably benign	Het
Olfr1288	A	T	2: 111,478,760		probably benign	Het
Olfr243	G	T	7: 103,716,966	R124L	probably damaging	Het
Olfr350	G	A	2: 36,850,125	M26I	probably benign	Het
Olfr541	G	A	7: 140,705,147	V299I	probably benign	Het
Pcdhb6	A	T	18: 37,335,478	H484L	probably benign	Het
Phldb1	T	C	9: 44,694,047	T604A	possibly damaging	Het
Pitpnm3	G	T	11: 72,070,964	A275D	probably damaging	Het
Polr2a	A	T	11: 69,747,292		probably null	Het
Polr3a	A	G	14: 24,459,987	C960R	probably benign	Het
Pou6f2	G	A	13: 18,239,713	A159V		Het
Pramef6	A	C	4: 143,896,775	Y276*	probably null	Het
Psmc4	A	G	7: 28,042,660	V303A	probably benign	Het
Ptdss2	A	G	7: 141,151,732	N151S	possibly damaging	Het
Ptprk	T	A	10: 28,589,008	Y1295*	probably null	Het
Rbm19	A	G	5: 120,186,218	K881E	possibly damaging	Het
Rcan2	T	A	17: 44,021,102	Y183*	probably null	Het
Rnd1	T	C	15: 98,670,799	E166G	probably damaging	Het
Rnf113a2	T	A	12: 84,418,179	C282S	probably damaging	Het
S100b	G	A	10: 76,257,092	G20R	probably benign	Het
Sae1	G	T	7: 16,368,544	Y168*	probably null	Het
Samd9l	C	A	6: 3,372,600	G1554*	probably null	Het
Samhd1	T	C	2: 157,135,020	S55G	probably benign	Het
Sgsm1	T	C	5: 113,273,646	D525G	probably benign	Het
Slc28a3	A	T	13: 58,563,172	M512K	probably damaging	Het
Slc9b2	T	A	3: 135,318,390	N67K	probably benign	Het
Smarca4	T	A	9: 21,638,800	I402N	probably damaging	Het
St7l	T	C	3: 104,889,353	F261L	probably benign	Het
Syde2	T	A	3: 146,015,798	V1140D	probably damaging	Het
Syt6	T	A	3: 103,587,472	I251N	probably damaging	Het
Taok2	T	C	7: 126,866,818	E916G	probably damaging	Het
Tecta	A	G	9: 42,377,992	S426P	probably damaging	Het
Thra	T	C	11: 98,764,308	I338T	probably damaging	Het
Trub1	A	T	19: 57,472,703	Y137F	probably damaging	Het
Vps13b	T	C	15: 35,841,545	F2574L	probably benign	Het
Ythdf3	T	C	3: 16,183,500	S2P	possibly damaging	Het
Zc3h13	T	A	14: 75,330,541	D1091E	probably damaging	Het
Zdhhc6	A	G	19: 55,313,250	Y100H	probably damaging	Het

Other mutations in Ccdc85a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01462:Ccdc85a	APN	11	28576506	missense	probably damaging	1.00
IGL02260:Ccdc85a	APN	11	28576672	missense	possibly damaging	0.86
IGL03408:Ccdc85a	APN	11	28576528	missense	probably damaging	0.99
unter	UTSW	11	28577192	missense	probably damaging	1.00
R0363:Ccdc85a	UTSW	11	28583400	missense	probably damaging	1.00
R0744:Ccdc85a	UTSW	11	28583296	missense	probably damaging	1.00
R0833:Ccdc85a	UTSW	11	28583296	missense	probably damaging	1.00
R0836:Ccdc85a	UTSW	11	28583296	missense	probably damaging	1.00
R1241:Ccdc85a	UTSW	11	28396150	missense	probably benign	0.01
R1395:Ccdc85a	UTSW	11	28583412	missense	possibly damaging	0.84
R1679:Ccdc85a	UTSW	11	28583316	missense	probably damaging	1.00
R2132:Ccdc85a	UTSW	11	28434151	missense	probably benign	0.26
R2851:Ccdc85a	UTSW	11	28392942	intron	probably benign
R2853:Ccdc85a	UTSW	11	28392942	intron	probably benign
R3021:Ccdc85a	UTSW	11	28576894	missense	possibly damaging	0.95
R3087:Ccdc85a	UTSW	11	28392857	nonsense	probably null
R3122:Ccdc85a	UTSW	11	28583499	missense	unknown
R3863:Ccdc85a	UTSW	11	28577335	splice site	probably null
R3885:Ccdc85a	UTSW	11	28576677	missense	probably benign	0.21
R3963:Ccdc85a	UTSW	11	28576396	missense	probably benign	0.02
R4436:Ccdc85a	UTSW	11	28576457	missense	probably benign	0.08
R5487:Ccdc85a	UTSW	11	28576768	nonsense	probably null
R5687:Ccdc85a	UTSW	11	28392854	intron	probably benign
R6246:Ccdc85a	UTSW	11	28576897	missense	probably damaging	1.00
R6957:Ccdc85a	UTSW	11	28392944	intron	probably benign
R7142:Ccdc85a	UTSW	11	28577192	missense	probably damaging	1.00
R7848:Ccdc85a	UTSW	11	28396123	missense	possibly damaging	0.85
R8711:Ccdc85a	UTSW	11	28434146	missense	possibly damaging	0.48
R9104:Ccdc85a	UTSW	11	28576879	missense	probably damaging	0.96
Z1177:Ccdc85a	UTSW	11	28583491	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGGTAAATGATTCCAGTCCACG -3'
(R):5'- CAGGTGCATGTTATAGCTTGCC -3'

Sequencing Primer
(F):5'- GTAAATGATTCCAGTCCACGATTGCC -3'
(R):5'- GTCATTGTGGTTCATCTCATTAAGC -3'

Posted On

2019-06-26