Mutagenetix > Incidental Mutation

Incidental Mutation 'R1976:Ccdc33'

221728

Institutional Source

Beutler Lab

Gene Symbol

Ccdc33

Ensembl Gene

ENSMUSG00000037716

Gene Name

coiled-coil domain containing 33

Synonyms

LOC382077, 4930535E21Rik

MMRRC Submission

039989-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1976 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58028677-58118823 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 58117162 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 227 (Y227*)

Ref Sequence

ENSEMBL: ENSMUSP00000149337 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098681] [ENSMUST00000098682] [ENSMUST00000128021] [ENSMUST00000136154] [ENSMUST00000215944]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000098681
AA Change: Y227*

Predicted Effect

probably null
Transcript: ENSMUST00000098682
AA Change: Y227*

SMART Domains

Protein: ENSMUSP00000096279
Gene: ENSMUSG00000037716
AA Change: Y227*

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: ENSMUST00000128021

SMART Domains

Protein: ENSMUSP00000117832
Gene: ENSMUSG00000032327

Domain	Start	End	E-Value	Type
Pfam:RBP_receptor	40	87	8.1e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131007

Predicted Effect

probably benign
Transcript: ENSMUST00000136154

SMART Domains

Protein: ENSMUSP00000119062
Gene: ENSMUSG00000032327

Domain	Start	End	E-Value	Type
Pfam:RBP_receptor	40	199	1.7e-56	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145886

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146741

Predicted Effect

probably null
Transcript: ENSMUST00000215944
AA Change: Y227*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.8%

Validation Efficiency

98% (65/66)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406P16Rik	A	C	7: 34,257,380	N353K	probably damaging	Het
Abca13	T	C	11: 9,397,815	V3556A	probably damaging	Het
Abcb5	T	C	12: 118,890,682	I833V	probably benign	Het
Adgrd1	A	T	5: 129,140,797	H432L	probably benign	Het
Alppl2	T	A	1: 87,088,741	I204F	probably damaging	Het
Ascc3	T	A	10: 50,649,166	F486I	probably damaging	Het
Bcl9l	T	A	9: 44,506,152	L429Q	possibly damaging	Het
Cd101	A	G	3: 101,008,061	V730A	probably damaging	Het
Cdadc1	A	T	14: 59,573,768	V431E	probably damaging	Het
Dazap1	T	A	10: 80,274,620		probably null	Het
Dbpht2	T	A	12: 74,295,861		noncoding transcript	Het
Dennd4b	A	T	3: 90,273,055	T742S	probably damaging	Het
Dhtkd1	T	C	2: 5,902,391	E838G	possibly damaging	Het
Dync2h1	A	T	9: 7,129,045	D1823E	probably benign	Het
Enox1	T	A	14: 77,668,793	N556K	probably benign	Het
Fam227a	T	C	15: 79,626,276	I392M	possibly damaging	Het
Fnip2	A	T	3: 79,480,931	M831K	probably benign	Het
Foxn1	T	C	11: 78,365,937		probably benign	Het
Glis3	T	C	19: 28,262,677	936	probably benign	Het
Gm4953	T	A	1: 159,168,353		noncoding transcript	Het
Gsr	T	G	8: 33,680,260		probably null	Het
Habp4	G	T	13: 64,184,606	V344F	probably benign	Het
Hdac7	G	A	15: 97,806,505	Q495*	probably null	Het
Helb	T	C	10: 120,094,263	D737G	possibly damaging	Het
Hltf	A	G	3: 20,106,446	D759G	probably damaging	Het
Hlx	G	T	1: 184,731,987	A52D	probably damaging	Het
Itga10	C	T	3: 96,651,738		probably benign	Het
Itsn2	A	G	12: 4,672,733		probably benign	Het
Kank2	A	T	9: 21,794,561	V387E	probably damaging	Het
Lefty1	T	C	1: 180,937,824	V319A	probably benign	Het
Lonp1	T	C	17: 56,615,068	T771A	possibly damaging	Het
Lpcat2b	A	T	5: 107,433,850	K348N	possibly damaging	Het
Lsamp	T	C	16: 41,889,067	V103A	probably damaging	Het
Ltbp4	A	T	7: 27,326,770	C538S	probably damaging	Het
Micu1	T	C	10: 59,768,213	S174P	probably damaging	Het
Mta1	A	G	12: 113,136,306	N607S	probably damaging	Het
Muc5b	C	T	7: 141,863,154	S3279L	probably benign	Het
Naalad2	T	C	9: 18,378,699	E211G	probably damaging	Het
Nup155	T	A	15: 8,135,827	M649K	probably benign	Het
Pan2	T	C	10: 128,320,413	V1171A	probably damaging	Het
Pisd	A	G	5: 32,738,865	V372A	probably damaging	Het
Prim1	T	A	10: 128,023,799	C288S	probably benign	Het
Rab23	T	A	1: 33,723,938	C30S	probably damaging	Het
Sacs	A	G	14: 61,202,895	T797A	probably benign	Het
Sall3	T	C	18: 80,971,893	D940G	probably benign	Het
Scn1a	T	C	2: 66,331,271	E311G	probably benign	Het
Sdk1	T	A	5: 142,143,818	I1598N	probably damaging	Het
Slc22a17	A	T	14: 54,908,500		probably null	Het
Slc36a4	T	A	9: 15,734,210	V311D	probably damaging	Het
Sprr3	T	A	3: 92,456,946	Q197L	possibly damaging	Het
Stab2	A	C	10: 86,896,496		probably null	Het
Stk4	C	T	2: 164,100,528	T360M	probably benign	Het
Tas2r123	T	A	6: 132,847,332	V64D	probably damaging	Het
Trhde	T	G	10: 114,588,431	N483T	possibly damaging	Het
Trp53	C	T	11: 69,588,497	T167M	probably damaging	Het
Tspan8	A	G	10: 115,844,130	I217V	probably benign	Het
Usp17la	A	G	7: 104,860,320	E44G	possibly damaging	Het
Usp40	T	G	1: 87,978,536	Q659P	probably benign	Het
Vmn1r4	T	C	6: 56,956,738	C76R	probably damaging	Het
Vmn2r118	C	T	17: 55,592,925	G660R	probably damaging	Het
Zcchc11	T	C	4: 108,479,523	L148P	probably benign	Het
Zfp786	T	A	6: 47,819,757	H749L	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
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	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'- TTCGTGGAACCTAGAATCCTGAG -3'
(R):5'- TCAGACTGTCAACTGGAACCC -3'

Sequencing Primer
(F):5'- GTGCAATGAACTACTGCTTGC -3'
(R):5'- CAGCCAACCAGAGCTACAGGTAG -3'

Posted On

2014-08-25