Mutagenetix > Incidental Mutation

Incidental Mutation 'R4817:Ccdc33'

369918

Institutional Source

Beutler Lab

Gene Symbol

Ccdc33

Ensembl Gene

ENSMUSG00000037716

Gene Name

coiled-coil domain containing 33

Synonyms

LOC382077, 4930535E21Rik

MMRRC Submission

042435-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4817 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58028677-58118823 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 58067535 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 352 (V352M)

Ref Sequence

ENSEMBL: ENSMUSP00000112613 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042205] [ENSMUST00000098682] [ENSMUST00000119665] [ENSMUST00000215944]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000042205
AA Change: V352M

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000040899
Gene: ENSMUSG00000037716
AA Change: V352M

Domain	Start	End	E-Value	Type
C2	36	140	5.79e-3	SMART
coiled coil region	413	451	N/A	INTRINSIC
coiled coil region	472	560	N/A	INTRINSIC
coiled coil region	630	668	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000098682

SMART Domains

Protein: ENSMUSP00000096279
Gene: ENSMUSG00000037716

Domain	Start	End	E-Value	Type
C2	281	385	5.79e-3	SMART
coiled coil region	598	636	N/A	INTRINSIC
coiled coil region	657	745	N/A	INTRINSIC
coiled coil region	884	922	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000119665
AA Change: V352M

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112613
Gene: ENSMUSG00000037716
AA Change: V352M

Domain	Start	End	E-Value	Type
C2	36	140	5.79e-3	SMART
coiled coil region	413	559	N/A	INTRINSIC
coiled coil region	629	667	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145886

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146741

Predicted Effect

probably benign
Transcript: ENSMUST00000215944

Meta Mutation Damage Score

0.1375

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.0%

Validation Efficiency

96% (108/112)

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp2	T	A	2: 91,203,618	D44E	probably damaging	Het
Acp5	T	C	9: 22,127,083	I307M	probably benign	Het
Ahsa1	A	G	12: 87,273,166	D245G	possibly damaging	Het
Ankrd40	A	G	11: 94,339,633	K316E	probably benign	Het
Apol9b	G	A	15: 77,735,888	E295K	possibly damaging	Het
Aqp4	C	A	18: 15,399,758	G93C	probably damaging	Het
Arhgap21	A	G	2: 20,850,156	V1465A	probably benign	Het
Arhgap5	C	T	12: 52,519,209	P988S	possibly damaging	Het
Asxl3	A	C	18: 22,525,454	K2174Q	probably damaging	Het
Brf1	A	T	12: 112,972,301	I250N	probably damaging	Het
Calm1	A	G	12: 100,203,573		probably null	Het
Ccdc88a	G	T	11: 29,460,907	K464N	probably benign	Het
Cdadc1	AGACGGA	AGA	14: 59,568,991		probably null	Het
Cdc25b	T	A	2: 131,193,303	I327N	probably damaging	Het
Cenpf	G	A	1: 189,682,369	H184Y	possibly damaging	Het
Col6a5	G	A	9: 105,934,298	T674I	unknown	Het
Creg2	A	T	1: 39,623,190	M258K	probably damaging	Het
Csf3r	T	A	4: 126,037,656	Y477*	probably null	Het
Cyp3a44	T	A	5: 145,803,755	Y25F	possibly damaging	Het
Degs2	T	A	12: 108,689,066	R283*	probably null	Het
Dido1	T	C	2: 180,661,416	N1565S	probably benign	Het
Dnah6	A	T	6: 73,022,424	M4008K	probably benign	Het
Dnmbp	C	A	19: 43,849,972	G1138V	probably benign	Het
Drosha	A	C	15: 12,914,047	H1136P	probably damaging	Het
Duox2	T	G	2: 122,296,515	N173T	probably damaging	Het
Dync1li1	T	G	9: 114,705,094	I87M	probably benign	Het
E2f8	A	C	7: 48,867,746	S770A	probably benign	Het
Efemp1	A	G	11: 28,926,241	T469A	probably damaging	Het
Eif3f	A	T	7: 108,937,775	T136S	probably damaging	Het
Enpp5	T	C	17: 44,080,980	*46R	probably null	Het
Epb41l4b	A	G	4: 57,103,428	V136A	probably damaging	Het
Fam186a	A	C	15: 99,933,538		probably benign	Het
Flt4	A	G	11: 49,625,415	Y115C	probably damaging	Het
Gal	T	A	19: 3,411,126		probably null	Het
Galnt3	C	T	2: 66,093,539	V462I	possibly damaging	Het
Gas2l1	A	G	11: 5,061,429	S467P	possibly damaging	Het
Gbx1	A	G	5: 24,526,206	L204P	probably damaging	Het
Gle1	T	A	2: 29,936,211	S101T	probably benign	Het
Gltpd2	A	C	11: 70,519,477	Q87P	probably damaging	Het
Gm12789	T	A	4: 101,988,882	D113E	probably damaging	Het
Gm1966	T	A	7: 106,601,230		noncoding transcript	Het
Grin3b	G	A	10: 79,976,898	G936R	probably benign	Het
Gtf3c2	C	T	5: 31,174,090		probably null	Het
Klhl28	T	C	12: 64,957,269	T157A	probably benign	Het
Kmt2a	A	G	9: 44,821,466		probably benign	Het
Lamp1	A	G	8: 13,172,541	T242A	probably benign	Het
Lhfpl5	T	G	17: 28,576,326	I109S	possibly damaging	Het
Lhfpl5	T	A	17: 28,582,988	*220R	probably null	Het
Map4k2	C	T	19: 6,344,429	T313I	probably damaging	Het
Matn2	A	G	15: 34,423,799	D601G	probably damaging	Het
Mcur1	C	T	13: 43,551,671	V170M	possibly damaging	Het
Mettl7a3	A	T	15: 100,335,333	D135V	probably damaging	Het
Mphosph10	T	C	7: 64,392,221		probably benign	Het
Nat8l	G	A	5: 34,001,043	A266T	probably benign	Het
Nckap5	G	T	1: 126,027,215	D469E	possibly damaging	Het
Nckap5l	G	T	15: 99,423,186	P1238T	probably damaging	Het
Ngf	A	G	3: 102,509,840		probably benign	Het
Ntng1	T	A	3: 109,934,868	L196F	probably damaging	Het
Odf3l2	G	A	10: 79,640,017	P238S	probably damaging	Het
Olfr1396	A	T	11: 49,113,621	V35D	probably damaging	Het
Olfr450	A	G	6: 42,817,962	I164V	possibly damaging	Het
Pclo	A	T	5: 14,675,031	Y1301F	unknown	Het
Pclo	A	G	5: 14,713,125	T3871A	unknown	Het
Peli3	T	C	19: 4,932,566	E357G	probably damaging	Het
Pkd1	T	A	17: 24,565,374		probably null	Het
Pla2g2c	T	G	4: 138,734,334	F38C	probably damaging	Het
Plekha2	T	A	8: 25,059,944	T126S	possibly damaging	Het
Polr3f	T	A	2: 144,534,081	*142K	probably null	Het
Ppcs	C	T	4: 119,419,146	V81M	probably benign	Het
Prl7a1	A	G	13: 27,635,764	I169T	probably damaging	Het
Rbm19	C	A	5: 120,133,734		probably benign	Het
Rdh7	T	A	10: 127,885,762	Y215F	probably benign	Het
Rragd	T	G	4: 32,995,072	S62R	probably benign	Het
Rtel1	T	C	2: 181,355,935	S1114P	possibly damaging	Het
Serpinb5	G	T	1: 106,872,339	L86F	probably damaging	Het
Setbp1	A	G	18: 78,858,800	S551P	probably damaging	Het
Setd6	T	C	8: 95,717,055		probably benign	Het
Slmap	A	C	14: 26,462,352	M292R	probably damaging	Het
Srrm4	T	C	5: 116,477,134	D97G	unknown	Het
Stk-ps2	G	A	1: 46,028,965		noncoding transcript	Het
Syce1	A	T	7: 140,778,423	M204K	probably benign	Het
Syk	A	G	13: 52,611,206	K123R	probably benign	Het
Tbc1d14	A	T	5: 36,571,831	S64T	probably damaging	Het
Traf3ip3	T	C	1: 193,184,829	K295E	probably damaging	Het
Trp53bp2	T	C	1: 182,441,805		probably null	Het
Tsc2	T	A	17: 24,596,742		probably null	Het
Tspyl4	T	A	10: 34,297,738	C75*	probably null	Het
Uqcc2	T	C	17: 27,125,159	I52V	probably benign	Het
Vcp	T	A	4: 42,983,486	T525S	probably damaging	Het
Vmn2r18	A	T	5: 151,585,432		probably null	Het
Vmp1	A	G	11: 86,602,053	V310A	probably benign	Het
Vps13d	T	A	4: 145,069,165	R3671S	probably damaging	Het
Wdr3	T	C	3: 100,146,545	T544A	possibly damaging	Het
Zc3h14	C	G	12: 98,752,848	D157E	probably damaging	Het
Zfp541	T	A	7: 16,090,382	F1010I	probably damaging	Het
Zfp64	T	C	2: 168,926,112	T527A	probably benign	Het
Zyx	G	T	6: 42,356,487	R449M	probably damaging	Het

Other mutations in Ccdc33

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Ccdc33	APN	9	58069974	splice site	probably benign
IGL01403:Ccdc33	APN	9	58117385	missense	probably damaging	1.00
IGL01411:Ccdc33	APN	9	58117636	splice site	probably benign
IGL01714:Ccdc33	APN	9	58029870	missense	possibly damaging	0.91
IGL02028:Ccdc33	APN	9	58076578	missense	probably benign	0.13
IGL02158:Ccdc33	APN	9	58030419	missense	probably damaging	0.99
IGL02174:Ccdc33	APN	9	58033655	missense	probably benign	0.45
IGL02805:Ccdc33	APN	9	58098591	missense	probably benign	0.43
R0276:Ccdc33	UTSW	9	58058392	missense	probably damaging	0.99
R0537:Ccdc33	UTSW	9	58117454	missense	probably damaging	1.00
R0737:Ccdc33	UTSW	9	58082048	missense	probably damaging	0.99
R0789:Ccdc33	UTSW	9	58117214	splice site	probably benign
R0791:Ccdc33	UTSW	9	58028763	missense	possibly damaging	0.66
R0920:Ccdc33	UTSW	9	58033672	missense	probably damaging	0.99
R1541:Ccdc33	UTSW	9	58117466	missense	probably damaging	0.99
R1759:Ccdc33	UTSW	9	58117446	missense	possibly damaging	0.84
R1857:Ccdc33	UTSW	9	58032708	missense	possibly damaging	0.66
R1976:Ccdc33	UTSW	9	58117162	nonsense	probably null
R1982:Ccdc33	UTSW	9	58117168	missense	probably benign	0.07
R2044:Ccdc33	UTSW	9	58031112	missense	possibly damaging	0.93
R2224:Ccdc33	UTSW	9	58082022	missense	probably damaging	1.00
R2225:Ccdc33	UTSW	9	58082022	missense	probably damaging	1.00
R2227:Ccdc33	UTSW	9	58082022	missense	probably damaging	1.00
R2369:Ccdc33	UTSW	9	58076630	missense	probably benign	0.44
R3899:Ccdc33	UTSW	9	58032917	missense	probably damaging	0.99
R4468:Ccdc33	UTSW	9	58029952	missense	possibly damaging	0.93
R4468:Ccdc33	UTSW	9	58069872	missense	possibly damaging	0.67
R4703:Ccdc33	UTSW	9	58033670	missense	possibly damaging	0.86
R4705:Ccdc33	UTSW	9	58117557	missense	probably benign	0.01
R4790:Ccdc33	UTSW	9	58029957	missense	probably damaging	0.96
R4879:Ccdc33	UTSW	9	58067556	missense	possibly damaging	0.86
R4931:Ccdc33	UTSW	9	58069851	missense	probably damaging	1.00
R5015:Ccdc33	UTSW	9	58118635	missense	probably damaging	1.00
R5223:Ccdc33	UTSW	9	58032984	missense	possibly damaging	0.91
R5327:Ccdc33	UTSW	9	58086577	missense	probably benign	0.00
R5528:Ccdc33	UTSW	9	58028795	missense	probably benign	0.06
R5534:Ccdc33	UTSW	9	58117167	missense	possibly damaging	0.83
R5786:Ccdc33	UTSW	9	58029952	missense	possibly damaging	0.93
R5844:Ccdc33	UTSW	9	58033206	splice site	probably benign
R5975:Ccdc33	UTSW	9	58117478	missense	possibly damaging	0.49
R6120:Ccdc33	UTSW	9	58086600	missense	probably damaging	1.00
R6256:Ccdc33	UTSW	9	58101918	splice site	probably null
R6363:Ccdc33	UTSW	9	58114335	missense	probably benign	0.00
R6610:Ccdc33	UTSW	9	58069136	missense	possibly damaging	0.66
R6767:Ccdc33	UTSW	9	58033244	missense	possibly damaging	0.96
R7072:Ccdc33	UTSW	9	58111984	makesense	probably null
R7121:Ccdc33	UTSW	9	58080884	missense	probably benign	0.00
R7182:Ccdc33	UTSW	9	58034173	splice site	probably null
R7239:Ccdc33	UTSW	9	58032909	nonsense	probably null
R7655:Ccdc33	UTSW	9	58118465	missense	probably damaging	0.97
R7656:Ccdc33	UTSW	9	58118465	missense	probably damaging	0.97
R7868:Ccdc33	UTSW	9	58069091	missense	probably benign
R8215:Ccdc33	UTSW	9	58032712	missense	probably benign	0.18
R9139:Ccdc33	UTSW	9	58076559	missense	probably benign	0.04
R9204:Ccdc33	UTSW	9	58031105	missense	probably benign	0.33
R9280:Ccdc33	UTSW	9	58058266	missense	probably benign
R9297:Ccdc33	UTSW	9	58086593	missense	possibly damaging	0.85
R9318:Ccdc33	UTSW	9	58086593	missense	possibly damaging	0.85
R9361:Ccdc33	UTSW	9	58117625	missense	possibly damaging	0.96
R9664:Ccdc33	UTSW	9	58086572	missense	possibly damaging	0.85
RF003:Ccdc33	UTSW	9	58058291	missense	probably benign	0.18
Z1176:Ccdc33	UTSW	9	58117416	missense	probably benign	0.01
Z1177:Ccdc33	UTSW	9	58118585	missense	possibly damaging	0.56

Predicted Primers

PCR Primer
(F):5'- GCTTTCAACTGAACCAATTGACTC -3'
(R):5'- GTGCCAGTCAGGTGTGAATG -3'

Sequencing Primer
(F):5'- AACTGAACCAATTGACTCTTCCTTC -3'
(R):5'- CCATGTGGAAGCAGGGC -3'

Posted On

2016-02-04