Mutagenetix > Incidental Mutation

Incidental Mutation 'R6120:Ccdc33'

485719

Institutional Source

Beutler Lab

Gene Symbol

Ccdc33

Ensembl Gene

ENSMUSG00000037716

Gene Name

coiled-coil domain containing 33

Synonyms

LOC382077, 4930535E21Rik

MMRRC Submission

044268-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6120 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58028677-58118823 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 58086600 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 88 (P88S)

Ref Sequence

ENSEMBL: ENSMUSP00000112613 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042205] [ENSMUST00000098682] [ENSMUST00000119665] [ENSMUST00000128021] [ENSMUST00000136154] [ENSMUST00000215944]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000042205
AA Change: P88S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000040899
Gene: ENSMUSG00000037716
AA Change: P88S

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 damaging
Transcript: ENSMUST00000098682
AA Change: P333S

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000096279
Gene: ENSMUSG00000037716
AA Change: P333S

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: P88S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112613
Gene: ENSMUSG00000037716
AA Change: P88S

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: ENSMUST00000123746

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

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

noncoding transcript
Transcript: ENSMUST00000151404

Predicted Effect

probably damaging
Transcript: ENSMUST00000215944
AA Change: P333S

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

Meta Mutation Damage Score

0.2631

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.6%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	A	18: 6,638,795	V398E	possibly damaging	Het
Ankef1	A	G	2: 136,550,376	N495S	probably benign	Het
Bpifb3	G	T	2: 153,931,443	V428L	probably benign	Het
Btd	G	A	14: 31,641,108		probably benign	Het
Ccdc178	A	G	18: 22,097,728	L362S	probably benign	Het
Cdk14	A	T	5: 4,894,029	D385E	probably damaging	Het
Chrna4	A	G	2: 181,024,806	L613P	probably damaging	Het
Cnot3	T	A	7: 3,645,336		probably null	Het
Csf1	T	A	3: 107,753,854	I116L	probably damaging	Het
Csrp2	G	T	10: 110,939,279	A192S	probably benign	Het
Dnah9	T	C	11: 66,147,399	T104A	probably benign	Het
Eml1	C	T	12: 108,527,724	P593S	probably damaging	Het
Entpd2	T	A	2: 25,399,466	I320N	probably benign	Het
Exosc9	A	T	3: 36,554,672	N140I	probably damaging	Het
Fam186a	T	C	15: 99,940,363	T2667A	probably benign	Het
Fes	T	C	7: 80,380,867	D558G	probably damaging	Het
Fgfr2	G	T	7: 130,228,690	T186K	probably benign	Het
Fnip1	A	G	11: 54,510,000	E1075G	probably benign	Het
Gbf1	A	G	19: 46,279,321	I1203V	possibly damaging	Het
Gja1	T	A	10: 56,388,505	M320K	probably benign	Het
Gm5431	A	G	11: 48,894,781	Y256H	probably benign	Het
Gpr20	C	T	15: 73,696,004	V179M	probably damaging	Het
Greb1	T	G	12: 16,708,621	D698A	probably damaging	Het
Hook2	A	G	8: 84,998,125	E500G	probably damaging	Het
Kif13b	A	T	14: 64,751,558	N796I	probably damaging	Het
Kif1a	C	T	1: 93,024,574		probably null	Het
Lama1	T	C	17: 67,780,617		probably null	Het
Mfsd1	C	T	3: 67,594,385	Q246*	probably null	Het
Mkrn3	A	G	7: 62,419,534	S170P	probably benign	Het
Ms4a6b	A	G	19: 11,521,695	M58V	probably benign	Het
Muc4	T	C	16: 32,756,795	V2223A	unknown	Het
Mycbp2	A	T	14: 103,275,887	V811D	probably benign	Het
Olfr1015	T	C	2: 85,786,341	F277L	probably damaging	Het
Olfr483	A	T	7: 108,104,133	N275Y	probably damaging	Het
Olfr811	G	A	10: 129,801,820	A235V	probably damaging	Het
Olfr811	C	A	10: 129,801,821	A235S	probably damaging	Het
Pcsk2	A	G	2: 143,801,111	E436G	probably damaging	Het
Pet100	T	G	8: 3,621,764		probably null	Het
Pira2	A	G	7: 3,841,554	Y493H	probably damaging	Het
Prkdc	C	A	16: 15,739,471	R2213S	probably benign	Het
Prmt2	A	G	10: 76,209,446	I342T	possibly damaging	Het
Psmc6	A	G	14: 45,348,673	E381G	possibly damaging	Het
Rrm1	G	A	7: 102,460,856		probably null	Het
Sema3c	A	G	5: 17,727,632	D711G	probably benign	Het
Sgcb	T	C	5: 73,640,810	E103G	possibly damaging	Het
Sh3pxd2a	A	G	19: 47,267,409	S957P	probably damaging	Het
Slc26a2	A	G	18: 61,199,417	V314A	possibly damaging	Het
Smarca5	G	T	8: 80,711,743	H655N	probably damaging	Het
Sspo	T	A	6: 48,465,576	S2002T	probably damaging	Het
Sync	T	C	4: 129,293,751	L192P	probably damaging	Het
Ush2a	T	C	1: 188,358,603	M477T	probably benign	Het
Vav3	C	T	3: 109,664,365	T201M	probably damaging	Het
Vcam1	A	G	3: 116,124,400	V304A	probably damaging	Het
Vmn2r115	T	A	17: 23,346,029	W297R	probably damaging	Het
Vmn2r120	T	A	17: 57,525,973	M69L	probably benign	Het
Wdr11	A	G	7: 129,624,791	D771G	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
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
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'- TTTTATCGGAGCCCAGGGAG -3'
(R):5'- AGCTGGGCATCCATTAAGCC -3'

Sequencing Primer
(F):5'- AGGTGTTCAGCTGGCCTC -3'
(R):5'- TTAAGCCCAGGACGACATG -3'

Posted On

2017-08-16