Mutagenetix > Incidental Mutations

Incidental Mutation 'R1857:Ccdc33'

206240

Institutional Source

Beutler Lab

Gene Symbol

Ccdc33

Ensembl Gene

ENSMUSG00000037716

Gene Name

coiled-coil domain containing 33

Synonyms

LOC382077, 4930535E21Rik

MMRRC Submission

039881-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1857 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58028677-58118823 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58032708 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 750 (N750S)

Ref Sequence

ENSEMBL: ENSMUSP00000149337 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000042205
AA Change: N565S

PolyPhen 2 Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000040899
Gene: ENSMUSG00000037716
AA Change: N565S

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

possibly damaging
Transcript: ENSMUST00000098682
AA Change: N750S

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000096279
Gene: ENSMUSG00000037716
AA Change: N750S

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 benign
Transcript: ENSMUST00000119665
AA Change: N564S

PolyPhen 2 Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000112613
Gene: ENSMUSG00000037716
AA Change: N564S

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: ENSMUST00000143797

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144887

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153106

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215944
AA Change: N750S

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.3%
20x: 92.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars	T	A	8: 111,040,157	I57N	probably damaging	Het
Abca15	T	C	7: 120,361,369	S685P	probably damaging	Het
Adpgk	G	T	9: 59,314,965	V392L	probably benign	Het
Akap14	C	T	X: 37,157,126	A476T	probably damaging	Het
Amdhd1	A	T	10: 93,531,554	I246N	probably damaging	Het
Amhr2	T	A	15: 102,446,777	L165*	probably null	Het
Atr	T	A	9: 95,865,097	I144N	probably damaging	Het
B020004J07Rik	T	C	4: 101,835,573	Y410C	probably damaging	Het
C87977	C	T	4: 144,208,521	V217I	possibly damaging	Het
Cdh23	A	G	10: 60,323,297	I2233T	probably damaging	Het
Cfap46	C	A	7: 139,653,408	V774F	probably damaging	Het
Cfap69	G	T	5: 5,582,518	T362K	possibly damaging	Het
Cnih3	A	G	1: 181,450,073	H101R	probably damaging	Het
Crebrf	T	A	17: 26,742,963	Y345N	probably benign	Het
Cyb5r4	C	T	9: 87,041,279	S185L	probably benign	Het
Cyp2j5	T	C	4: 96,659,486	E173G	possibly damaging	Het
Cyp3a41b	T	A	5: 145,566,850	I296F	probably benign	Het
Dse	T	C	10: 34,153,229	T622A	probably benign	Het
Dync1h1	T	A	12: 110,662,625	F4205L	probably damaging	Het
Eif3a	A	C	19: 60,782,197	L71V	probably damaging	Het
Eif3h	T	C	15: 51,799,278	Y124C	probably damaging	Het
Eif4g3	A	T	4: 138,175,876	Q1169L	possibly damaging	Het
Endod1	T	A	9: 14,357,109	H360L	probably benign	Het
Fbxo38	A	G	18: 62,515,418	I683T	probably damaging	Het
Frem2	T	A	3: 53,654,873	T738S	probably benign	Het
Gm1527	A	T	3: 28,903,390	T148S	probably damaging	Het
Gm4894	T	C	9: 49,278,676	S84P	unknown	Het
Gm4981	A	G	10: 58,235,780	V204A	probably benign	Het
Hsh2d	G	A	8: 72,200,460	D229N	probably benign	Het
Il1f10	A	T	2: 24,292,805	D31V	possibly damaging	Het
Lrrc56	A	G	7: 141,207,508	M353V	probably benign	Het
Meiob	T	C	17: 24,823,570	V124A	probably damaging	Het
Mmp11	A	T	10: 75,928,357	D91E	probably benign	Het
Mpped2	T	C	2: 106,783,644	Y108H	probably damaging	Het
Mroh9	A	G	1: 163,039,145	V674A	probably damaging	Het
Mtor	G	T	4: 148,480,879	Q1015H	probably damaging	Het
Mylk3	G	A	8: 85,328,594	T711I	probably damaging	Het
Ndufaf6	G	T	4: 11,053,474	H277Q	probably benign	Het
Neurl4	G	T	11: 69,905,535	G435V	probably damaging	Het
Nipal2	A	G	15: 34,678,633	S21P	possibly damaging	Het
Nphp1	T	A	2: 127,770,376	D217V	probably benign	Het
Nphp3	T	C	9: 104,021,294	I432T	possibly damaging	Het
Olfr1123	T	C	2: 87,418,648	L198P	probably damaging	Het
Olfr1367	A	G	13: 21,347,176	M83V	possibly damaging	Het
Olfr681	T	G	7: 105,121,544	L29R	probably benign	Het
Oprd1	T	G	4: 132,113,681	D322A	probably damaging	Het
Pcdh10	C	A	3: 45,379,937	Q229K	possibly damaging	Het
Pdlim7	G	A	13: 55,506,045	T253M	probably damaging	Het
Pfdn1	C	A	18: 36,451,100	M60I	probably benign	Het
Pigc	T	G	1: 161,970,877	S143A	possibly damaging	Het
Pkd1l2	T	C	8: 117,040,669	D1294G	possibly damaging	Het
Ppp2r1a	T	C	17: 20,961,689	S490P	possibly damaging	Het
Ppp2r3a	T	A	9: 101,212,893	N77I	probably damaging	Het
Prl7a2	A	T	13: 27,659,180	C213*	probably null	Het
Prpf8	T	A	11: 75,495,423		probably null	Het
Psmd7	A	T	8: 107,584,893	N109K	probably damaging	Het
Ptprn	T	C	1: 75,247,905	K936E	possibly damaging	Het
Ror1	A	T	4: 100,441,503	Q691L	probably damaging	Het
Sars2	A	G	7: 28,750,012	M322V	probably benign	Het
Scfd2	C	A	5: 74,212,301	E638*	probably null	Het
Scgb3a2	A	G	18: 43,766,835	T63A	probably benign	Het
Slc5a4a	T	C	10: 76,166,735	S242P	probably benign	Het
Smarcd1	A	G	15: 99,709,414	K382E	probably damaging	Het
Sox5	T	A	6: 143,960,815	S305C	probably damaging	Het
Sp5	C	A	2: 70,476,869	H299Q	possibly damaging	Het
Stard13	T	C	5: 151,095,438	Y60C	probably damaging	Het
Tmprss6	A	G	15: 78,452,552	F383L	probably damaging	Het
Trove2	T	C	1: 143,770,750	T86A	probably benign	Het
Ttc23	T	C	7: 67,679,073		probably null	Het
Ugt2b34	T	C	5: 86,904,382	T252A	possibly damaging	Het
Vangl2	A	T	1: 172,009,897	L115Q	probably damaging	Het
Vmn1r42	A	G	6: 89,844,615	I324T	probably benign	Het
Vwa5b1	A	G	4: 138,569,102	F1205L	probably damaging	Het
Zfp951	G	C	5: 104,814,857	T281R	probably damaging	Het
Zscan30	A	G	18: 23,971,467		noncoding transcript	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
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
R4817:Ccdc33	UTSW	9	58067535	missense	probably damaging	0.98
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	intron	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

Predicted Primers

PCR Primer
(F):5'- CACCATGGAAGCTCTCAGTACTTG -3'
(R):5'- TGCAGAAGATGAAGGCCCTG -3'

Sequencing Primer
(F):5'- TGAGAGAGGTGAGAGTAATATTTCTC -3'
(R):5'- TGGAGGACACTGTACGGCAC -3'

Posted On

2014-06-23