Mutagenetix > Incidental Mutations

Incidental Mutation 'R7868:Ccdc33'

607921

Institutional Source

Beutler Lab

Gene Symbol

Ccdc33

Ensembl Gene

ENSMUSG00000037716

Gene Name

coiled-coil domain containing 33

Synonyms

LOC382077, 4930535E21Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7868 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58028677-58118823 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58069091 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 547 (I547F)

Ref Sequence

ENSEMBL: ENSMUSP00000096279 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000042205
AA Change: I338F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000040899
Gene: ENSMUSG00000037716
AA Change: I338F

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
AA Change: I547F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000096279
Gene: ENSMUSG00000037716
AA Change: I547F

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: I338F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112613
Gene: ENSMUSG00000037716
AA Change: I338F

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

probably benign
Transcript: ENSMUST00000215944
AA Change: I547F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933415A04Rik	GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	11: 43,587,430		probably null	Het
Acacb	A	G	5: 114,248,227	E2274G	probably benign	Het
Adam7	A	G	14: 68,532,641	I21T	possibly damaging	Het
Aldh3b3	C	T	19: 3,968,492	R57*	probably null	Het
Arhgap22	T	C	14: 33,364,516		probably benign	Het
B4galt5	G	T	2: 167,301,420	Y361*	probably null	Het
BC005537	C	T	13: 24,803,399	R7W	possibly damaging	Het
Bsn	G	T	9: 108,114,899	A1218D	possibly damaging	Het
Ccdc141	T	C	2: 77,108,412	D283G	probably damaging	Het
Chdh	A	G	14: 30,031,331	N66D	probably benign	Het
Ckap2l	T	A	2: 129,285,289	Q323L	probably damaging	Het
Cpvl	T	A	6: 53,974,760	I13F	possibly damaging	Het
Creb3l2	G	A	6: 37,335,869	P410L	probably damaging	Het
Dna2	T	C	10: 62,969,864	V960A	probably benign	Het
Dopey1	G	A	9: 86,501,984		probably null	Het
Dpysl5	A	T	5: 30,745,416	D64V	probably damaging	Het
Dysf	A	G	6: 84,114,099	Q1041R	probably benign	Het
Efcab7	T	C	4: 99,888,957	V242A	probably benign	Het
Ehbp1	G	A	11: 22,146,542	R341*	probably null	Het
Fbxo32	A	T	15: 58,214,590	W8R	probably damaging	Het
Fpgs	T	C	2: 32,683,460	N455D	probably damaging	Het
Fsip1	G	A	2: 118,136,486	Q453*	probably null	Het
Gm13103	A	G	4: 143,851,584	H138R	possibly damaging	Het
Gm8257	T	A	14: 44,657,297	E12V	probably damaging	Het
Gm8300	G	T	12: 87,516,618		probably benign	Het
Kdm3a	A	T	6: 71,595,489	D1029E	probably benign	Het
Lipo4	T	G	19: 33,511,568	Q205P	possibly damaging	Het
Lpar6	A	T	14: 73,238,995	N132I	probably damaging	Het
Lrp1b	C	T	2: 41,449,234	G866S		Het
Man2c1	T	C	9: 57,137,986	F460L	probably damaging	Het
Map3k7cl	T	C	16: 87,581,212	V72A	probably damaging	Het
Map4k1	A	T	7: 28,999,962		probably null	Het
Matn1	A	G	4: 130,955,000	E496G	probably damaging	Het
Mfsd2a	A	T	4: 122,956,855	V76E	possibly damaging	Het
Mtpap	A	G	18: 4,380,673	E117G	probably damaging	Het
Muc3	T	A	5: 137,146,777	N15I		Het
Mut	C	T	17: 40,947,043	R367C	probably damaging	Het
Ndufa10	A	G	1: 92,460,447	Y275H	probably damaging	Het
Nlrc4	A	T	17: 74,448,052	H56Q	possibly damaging	Het
Nrde2	G	A	12: 100,131,187	R785C	possibly damaging	Het
Nsun4	C	A	4: 116,034,132	C350F	probably benign	Het
Olfr1410	G	A	1: 92,608,515	G226D	possibly damaging	Het
Olfr229	T	A	9: 39,909,986	F61Y	probably benign	Het
Olfr417	A	G	1: 174,368,985	T23A	probably benign	Het
Olfr560	A	G	7: 102,753,605	L108P	possibly damaging	Het
Pdcd7	T	A	9: 65,346,979	C280S	probably damaging	Het
Peak1	G	T	9: 56,260,470	T58K	probably damaging	Het
Phactr2	T	C	10: 13,232,609	E573G	probably damaging	Het
Ptprz1	G	A	6: 23,000,964	A1018T	not run	Het
Ralgapa1	G	T	12: 55,612,638	D2032E	probably benign	Het
Rapgef4	T	A	2: 72,201,137	N488K	probably benign	Het
Slc1a2	A	G	2: 102,761,185	D420G	probably benign	Het
Smyd5	T	A	6: 85,444,315	L337Q	probably damaging	Het
Tenm4	G	A	7: 96,906,380	R2764H	possibly damaging	Het
Tex35	A	T	1: 157,099,338	Y195*	probably null	Het
Tln2	T	C	9: 67,348,226	K690E	probably damaging	Het
Trpc4	A	G	3: 54,302,286	T691A	probably benign	Het
Tsr1	T	A	11: 74,900,332	F246I	possibly damaging	Het
Ttn	ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG	ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG	2: 76,915,806		probably benign	Het
Ubr4	A	T	4: 139,460,033	Y669F	unknown	Het
Uox	A	C	3: 146,610,274	D12A	probably benign	Het
Wdr17	A	G	8: 54,696,267		probably null	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
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
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
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'- CCTGATAGAGGCTGCTAAGAAG -3'
(R):5'- TCACTGACAGGACCTGATTTGG -3'

Sequencing Primer
(F):5'- AGCTACATTTACCCGGATGG -3'
(R):5'- GACAGGACCTGATTTGGCCTTTC -3'

Posted On

2019-12-20