Mutagenetix > Incidental Mutation

Incidental Mutation 'R2044:Ccdc33'

221684

Institutional Source

Beutler Lab

Gene Symbol

Ccdc33

Ensembl Gene

ENSMUSG00000037716

Gene Name

coiled-coil domain containing 33

Synonyms

LOC382077, 4930535E21Rik

MMRRC Submission

040051-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2044 (G1)

Quality Score

207

Status

Validated

Chromosome

Chromosomal Location

57935960-58026106 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 57938395 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 859 (P859S)

Ref Sequence

ENSEMBL: ENSMUSP00000096279 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034874] [ENSMUST00000042205] [ENSMUST00000098682] [ENSMUST00000119665] [ENSMUST00000215944]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000034874

SMART Domains

Protein: ENSMUSP00000034874
Gene: ENSMUSG00000032323

Domain	Start	End	E-Value	Type
low complexity region	30	41	N/A	INTRINSIC
Pfam:p450	49	507	1.8e-120	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000042205

SMART Domains

Protein: ENSMUSP00000040899
Gene: ENSMUSG00000037716

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: P859S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000096279
Gene: ENSMUSG00000037716
AA Change: P859S

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

SMART Domains

Protein: ENSMUSP00000112613
Gene: ENSMUSG00000037716

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

probably benign
Transcript: ENSMUST00000215944

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.7%

Validation Efficiency

98% (92/94)

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410137M14Rik	G	A	17: 37,288,986 (GRCm39)		probably benign	Het
Abhd15	A	G	11: 77,409,164 (GRCm39)	T293A	probably benign	Het
Aldh1l1	C	T	6: 90,539,647 (GRCm39)	P192L	probably benign	Het
Aldoart1	T	G	4: 72,770,779 (GRCm39)	I10L	probably benign	Het
Ankhd1	G	A	18: 36,778,166 (GRCm39)	G1653D	probably benign	Het
Ankk1	A	C	9: 49,330,664 (GRCm39)		probably null	Het
Astn1	A	G	1: 158,428,072 (GRCm39)	T748A	possibly damaging	Het
Bmp7	C	A	2: 172,781,708 (GRCm39)	R52L	possibly damaging	Het
Ccny	A	G	18: 9,449,644 (GRCm39)	S10P	probably damaging	Het
Cdc6	C	A	11: 98,801,287 (GRCm39)	F179L	probably benign	Het
Cdc7	T	A	5: 107,130,998 (GRCm39)	V491E	probably benign	Het
Cdh23	G	T	10: 60,432,509 (GRCm39)	S138R	possibly damaging	Het
Cenpc1	T	C	5: 86,185,614 (GRCm39)	H299R	probably benign	Het
Ciart	A	T	3: 95,786,013 (GRCm39)	M354K	probably benign	Het
Clasrp	G	T	7: 19,320,640 (GRCm39)		probably benign	Het
Col4a3	G	A	1: 82,674,040 (GRCm39)	G1132E	unknown	Het
Crebbp	G	A	16: 3,902,687 (GRCm39)	T2184I	probably benign	Het
Cyp2r1	A	C	7: 114,149,640 (GRCm39)	M458R	probably damaging	Het
Cyp7a1	C	A	4: 6,275,492 (GRCm39)	R27M	probably null	Het
Ddhd2	A	G	8: 26,242,192 (GRCm39)	F116L	probably damaging	Het
Dgkd	G	A	1: 87,855,413 (GRCm39)	R685K	probably benign	Het
Dnah2	A	G	11: 69,415,066 (GRCm39)	S223P	probably benign	Het
Exph5	A	T	9: 53,283,979 (GRCm39)	R353S	possibly damaging	Het
F11	C	A	8: 45,705,155 (GRCm39)	V129F	probably benign	Het
F830045P16Rik	A	T	2: 129,301,317 (GRCm39)	S454T	possibly damaging	Het
Fam124a	T	C	14: 62,824,656 (GRCm39)	I50T	probably damaging	Het
Fam20c	T	C	5: 138,741,982 (GRCm39)		probably null	Het
Fam234b	A	G	6: 135,203,912 (GRCm39)	T405A	probably benign	Het
Fbh1	C	A	2: 11,767,781 (GRCm39)	V356L	possibly damaging	Het
Flywch1	G	A	17: 23,981,287 (GRCm39)	Q132*	probably null	Het
Foxo6	T	C	4: 120,144,166 (GRCm39)	D95G	probably benign	Het
Ggt5	T	C	10: 75,439,921 (GRCm39)	F174S	probably damaging	Het
Gm7104	G	A	12: 88,252,551 (GRCm39)		noncoding transcript	Het
Gpr155	A	G	2: 73,203,977 (GRCm39)	L279P	probably damaging	Het
H2-T23	A	G	17: 36,343,083 (GRCm39)	L98P	probably damaging	Het
H4c16	G	C	6: 136,781,101 (GRCm39)	R93G	possibly damaging	Het
Heatr5a	A	G	12: 52,002,186 (GRCm39)	V250A	probably benign	Het
Heyl	A	T	4: 123,135,156 (GRCm39)	I50F	probably damaging	Het
Ifitm10	A	T	7: 141,909,771 (GRCm39)	S179R	probably damaging	Het
Isg15	A	T	4: 156,284,249 (GRCm39)	I93N	probably benign	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Itga10	G	A	3: 96,565,006 (GRCm39)	V985I	probably benign	Het
Kcnt2	T	C	1: 140,302,892 (GRCm39)	I144T	probably benign	Het
Klk1	A	C	7: 43,878,458 (GRCm39)	K104T	possibly damaging	Het
Lemd3	C	A	10: 120,769,347 (GRCm39)	R654L	probably damaging	Het
Lmod1	A	T	1: 135,292,125 (GRCm39)	M327L	probably benign	Het
Lonrf2	T	C	1: 38,846,131 (GRCm39)	E347G	probably benign	Het
Ltbp1	A	G	17: 75,583,427 (GRCm39)	Y409C	probably damaging	Het
Mecom	A	T	3: 30,034,741 (GRCm39)	Y312N	probably damaging	Het
Mmut	A	G	17: 41,252,342 (GRCm39)	T295A	probably benign	Het
Mrgprb3	C	T	7: 48,293,482 (GRCm39)	C23Y	possibly damaging	Het
Nadk	C	A	4: 155,669,898 (GRCm39)	L194I	probably damaging	Het
Naxd	A	G	8: 11,559,510 (GRCm39)	I182V	probably benign	Het
Nbeal1	T	A	1: 60,358,846 (GRCm39)	I1176K	probably damaging	Het
Nol4l	C	A	2: 153,371,441 (GRCm39)	R81L	possibly damaging	Het
Odad3	T	G	9: 21,903,154 (GRCm39)	T419P	possibly damaging	Het
Or4k47	T	A	2: 111,452,159 (GRCm39)	R87W	probably benign	Het
Or8g36	A	T	9: 39,422,674 (GRCm39)	M114K	probably damaging	Het
Or9s15	G	T	1: 92,524,691 (GRCm39)	R150L	probably benign	Het
Pcdh18	A	G	3: 49,709,389 (GRCm39)	V642A	probably benign	Het
Pdzk1	G	A	3: 96,763,164 (GRCm39)		probably benign	Het
Per3	C	T	4: 151,118,395 (GRCm39)	V233I	probably benign	Het
Pisd	G	A	5: 32,922,140 (GRCm39)	P267S	possibly damaging	Het
Prm1	T	A	16: 10,614,357 (GRCm39)		probably benign	Het
Ptprj	A	G	2: 90,293,439 (GRCm39)	V548A	probably damaging	Het
Ranbp3	G	A	17: 56,980,367 (GRCm39)		probably benign	Het
Raver2	T	A	4: 100,960,009 (GRCm39)	V163D	probably damaging	Het
Rbm14	A	T	19: 4,853,905 (GRCm39)	I159N	possibly damaging	Het
Rfx6	G	A	10: 51,594,222 (GRCm39)	V381I	probably benign	Het
Rhobtb1	T	C	10: 69,108,693 (GRCm39)		probably benign	Het
Rpl28-ps4	T	A	6: 117,190,856 (GRCm39)		noncoding transcript	Het
Rsph10b	A	G	5: 143,904,068 (GRCm39)		probably null	Het
Rspo4	A	G	2: 151,715,013 (GRCm39)	K217E	unknown	Het
Scgb2b27	G	A	7: 33,712,710 (GRCm39)	A44V	possibly damaging	Het
Sec14l2	G	A	11: 4,061,435 (GRCm39)		probably benign	Het
Sec31b	T	C	19: 44,524,595 (GRCm39)	N101D	probably benign	Het
Sema6a	A	T	18: 47,439,496 (GRCm39)	C9*	probably null	Het
Septin5	A	C	16: 18,441,762 (GRCm39)	L331R	probably benign	Het
Slc16a11	C	A	11: 70,106,477 (GRCm39)	Y238*	probably null	Het
Slc25a12	T	C	2: 71,142,892 (GRCm39)	T210A	probably benign	Het
Slc35f1	A	T	10: 52,965,443 (GRCm39)	Y286F	probably damaging	Het
Szt2	A	T	4: 118,233,645 (GRCm39)	L2225*	probably null	Het
Thap12	T	C	7: 98,365,827 (GRCm39)	L665P	probably damaging	Het
Tpsb2	T	A	17: 25,586,698 (GRCm39)	W237R	probably damaging	Het
Tyk2	T	C	9: 21,031,637 (GRCm39)	D451G	probably damaging	Het
Ube2j1	T	A	4: 33,049,696 (GRCm39)	N231K	probably benign	Het
Vmn1r225	A	T	17: 20,722,852 (GRCm39)	T98S	possibly damaging	Het
Vmn1r87	A	T	7: 12,865,748 (GRCm39)	S180T	probably benign	Het
Vmn2r6	A	G	3: 64,445,262 (GRCm39)	V821A	probably damaging	Het
Zfp689	C	A	7: 127,043,998 (GRCm39)	G211C	probably damaging	Het
Zfp827	A	G	8: 79,802,865 (GRCm39)	D479G	probably benign	Het
Zfp995	A	C	17: 22,099,575 (GRCm39)	F220V	probably damaging	Het

Other mutations in Ccdc33

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Ccdc33	APN	9	57,977,257 (GRCm39)	splice site	probably benign
IGL01403:Ccdc33	APN	9	58,024,668 (GRCm39)	missense	probably damaging	1.00
IGL01411:Ccdc33	APN	9	58,024,919 (GRCm39)	splice site	probably benign
IGL01714:Ccdc33	APN	9	57,937,153 (GRCm39)	missense	possibly damaging	0.91
IGL02028:Ccdc33	APN	9	57,983,861 (GRCm39)	missense	probably benign	0.13
IGL02158:Ccdc33	APN	9	57,937,702 (GRCm39)	missense	probably damaging	0.99
IGL02174:Ccdc33	APN	9	57,940,938 (GRCm39)	missense	probably benign	0.45
IGL02805:Ccdc33	APN	9	58,005,874 (GRCm39)	missense	probably benign	0.43
R0276:Ccdc33	UTSW	9	57,965,675 (GRCm39)	missense	probably damaging	0.99
R0537:Ccdc33	UTSW	9	58,024,737 (GRCm39)	missense	probably damaging	1.00
R0737:Ccdc33	UTSW	9	57,989,331 (GRCm39)	missense	probably damaging	0.99
R0789:Ccdc33	UTSW	9	58,024,497 (GRCm39)	splice site	probably benign
R0791:Ccdc33	UTSW	9	57,936,046 (GRCm39)	missense	possibly damaging	0.66
R0920:Ccdc33	UTSW	9	57,940,955 (GRCm39)	missense	probably damaging	0.99
R1541:Ccdc33	UTSW	9	58,024,749 (GRCm39)	missense	probably damaging	0.99
R1759:Ccdc33	UTSW	9	58,024,729 (GRCm39)	missense	possibly damaging	0.84
R1857:Ccdc33	UTSW	9	57,939,991 (GRCm39)	missense	possibly damaging	0.66
R1976:Ccdc33	UTSW	9	58,024,445 (GRCm39)	nonsense	probably null
R1982:Ccdc33	UTSW	9	58,024,451 (GRCm39)	missense	probably benign	0.07
R2224:Ccdc33	UTSW	9	57,989,305 (GRCm39)	missense	probably damaging	1.00
R2225:Ccdc33	UTSW	9	57,989,305 (GRCm39)	missense	probably damaging	1.00
R2227:Ccdc33	UTSW	9	57,989,305 (GRCm39)	missense	probably damaging	1.00
R2369:Ccdc33	UTSW	9	57,983,913 (GRCm39)	missense	probably benign	0.44
R3899:Ccdc33	UTSW	9	57,940,200 (GRCm39)	missense	probably damaging	0.99
R4468:Ccdc33	UTSW	9	57,977,155 (GRCm39)	missense	possibly damaging	0.67
R4468:Ccdc33	UTSW	9	57,937,235 (GRCm39)	missense	possibly damaging	0.93
R4703:Ccdc33	UTSW	9	57,940,953 (GRCm39)	missense	possibly damaging	0.86
R4705:Ccdc33	UTSW	9	58,024,840 (GRCm39)	missense	probably benign	0.01
R4790:Ccdc33	UTSW	9	57,937,240 (GRCm39)	missense	probably damaging	0.96
R4817:Ccdc33	UTSW	9	57,974,818 (GRCm39)	missense	probably damaging	0.98
R4879:Ccdc33	UTSW	9	57,974,839 (GRCm39)	missense	possibly damaging	0.86
R4931:Ccdc33	UTSW	9	57,977,134 (GRCm39)	missense	probably damaging	1.00
R5015:Ccdc33	UTSW	9	58,025,918 (GRCm39)	missense	probably damaging	1.00
R5223:Ccdc33	UTSW	9	57,940,267 (GRCm39)	missense	possibly damaging	0.91
R5327:Ccdc33	UTSW	9	57,993,860 (GRCm39)	missense	probably benign	0.00
R5528:Ccdc33	UTSW	9	57,936,078 (GRCm39)	missense	probably benign	0.06
R5534:Ccdc33	UTSW	9	58,024,450 (GRCm39)	missense	possibly damaging	0.83
R5786:Ccdc33	UTSW	9	57,937,235 (GRCm39)	missense	possibly damaging	0.93
R5844:Ccdc33	UTSW	9	57,940,489 (GRCm39)	splice site	probably benign
R5975:Ccdc33	UTSW	9	58,024,761 (GRCm39)	missense	possibly damaging	0.49
R6120:Ccdc33	UTSW	9	57,993,883 (GRCm39)	missense	probably damaging	1.00
R6256:Ccdc33	UTSW	9	58,009,201 (GRCm39)	splice site	probably null
R6363:Ccdc33	UTSW	9	58,021,618 (GRCm39)	missense	probably benign	0.00
R6610:Ccdc33	UTSW	9	57,976,419 (GRCm39)	missense	possibly damaging	0.66
R6767:Ccdc33	UTSW	9	57,940,527 (GRCm39)	missense	possibly damaging	0.96
R7072:Ccdc33	UTSW	9	58,019,267 (GRCm39)	makesense	probably null
R7121:Ccdc33	UTSW	9	57,988,167 (GRCm39)	missense	probably benign	0.00
R7182:Ccdc33	UTSW	9	57,941,456 (GRCm39)	splice site	probably null
R7239:Ccdc33	UTSW	9	57,940,192 (GRCm39)	nonsense	probably null
R7655:Ccdc33	UTSW	9	58,025,748 (GRCm39)	missense	probably damaging	0.97
R7656:Ccdc33	UTSW	9	58,025,748 (GRCm39)	missense	probably damaging	0.97
R7868:Ccdc33	UTSW	9	57,976,374 (GRCm39)	missense	probably benign
R8215:Ccdc33	UTSW	9	57,939,995 (GRCm39)	missense	probably benign	0.18
R9139:Ccdc33	UTSW	9	57,983,842 (GRCm39)	missense	probably benign	0.04
R9204:Ccdc33	UTSW	9	57,938,388 (GRCm39)	missense	probably benign	0.33
R9280:Ccdc33	UTSW	9	57,965,549 (GRCm39)	missense	probably benign
R9297:Ccdc33	UTSW	9	57,993,876 (GRCm39)	missense	possibly damaging	0.85
R9318:Ccdc33	UTSW	9	57,993,876 (GRCm39)	missense	possibly damaging	0.85
R9361:Ccdc33	UTSW	9	58,024,908 (GRCm39)	missense	possibly damaging	0.96
R9664:Ccdc33	UTSW	9	57,993,855 (GRCm39)	missense	possibly damaging	0.85
RF003:Ccdc33	UTSW	9	57,965,574 (GRCm39)	missense	probably benign	0.18
Z1176:Ccdc33	UTSW	9	58,024,699 (GRCm39)	missense	probably benign	0.01
Z1177:Ccdc33	UTSW	9	58,025,868 (GRCm39)	missense	possibly damaging	0.56

Predicted Primers

PCR Primer
(F):5'- ATACATGGTATGTGGTTAAACTGGAGG -3'
(R):5'- ACCTTCTGGGATTGGTGCAG -3'

Sequencing Primer
(F):5'- GGTCTTTTGTAGCATAAAGGCTCATC -3'
(R):5'- AGCCTTGGAGAGCCCTTTTC -3'

Posted On

2014-08-25