Mutagenetix > Incidental Mutation

Incidental Mutation 'R9280:Ccdc33'

703569

Institutional Source

Beutler Lab

Gene Symbol

Ccdc33

Ensembl Gene

ENSMUSG00000037716

Gene Name

coiled-coil domain containing 33

Synonyms

LOC382077, 4930535E21Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9280 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58028677-58118823 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58058266 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 591 (M591K)

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: M406K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000040899
Gene: ENSMUSG00000037716
AA Change: M406K

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: M591K

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

SMART Domains

Protein: ENSMUSP00000096279
Gene: ENSMUSG00000037716
AA Change: M591K

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: M406K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000112613
Gene: ENSMUSG00000037716
AA Change: M406K

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: M591K

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	A	C	6: 96,165,001	L354R	probably damaging	Het
Acrbp	G	T	6: 125,062,975	V514L	probably damaging	Het
Actl11	A	G	9: 107,931,374	I965M	probably damaging	Het
Ank3	A	T	10: 69,982,191	S1468C	possibly damaging	Het
Apobec3	A	C	15: 79,906,881	N392T		Het
Ccdc39	T	C	3: 33,816,004	E689G	probably damaging	Het
Cnot1	A	T	8: 95,770,599	M250K	probably benign	Het
Ctbs	A	T	3: 146,454,387	Y57F	probably damaging	Het
Dchs2	A	G	3: 83,281,948	I1540V	possibly damaging	Het
Dnah8	A	T	17: 30,785,097	Q3651H	possibly damaging	Het
Doxl2	A	G	6: 48,978,182	D652G	possibly damaging	Het
Eif2a	A	G	3: 58,539,588		probably benign	Het
Entpd2	A	G	2: 25,399,499	N331S	possibly damaging	Het
F830045P16Rik	G	A	2: 129,472,854	P168S	probably damaging	Het
Fam76b	A	T	9: 13,839,716	H302L	possibly damaging	Het
Fancm	A	G	12: 65,106,838	E1356G	probably benign	Het
Fat2	G	A	11: 55,310,697	T517I	probably benign	Het
Glul	T	C	1: 153,907,865	C269R	probably benign	Het
Gm3404	C	T	5: 146,525,946	H40Y	possibly damaging	Het
Gm6614	A	G	6: 141,994,252	L175P	possibly damaging	Het
Grb7	T	C	11: 98,454,422	F435S	probably damaging	Het
Ide	A	T	19: 37,318,091	Y191N		Het
Ide	T	C	19: 37,330,402		probably benign	Het
Ighv6-3	T	A	12: 114,391,800	T90S	probably damaging	Het
Il23r	A	G	6: 67,452,426	C311R	probably damaging	Het
Ilf2	A	G	3: 90,487,615	E390G	unknown	Het
Ints1	C	T	5: 139,764,714	C896Y	probably damaging	Het
Ipcef1	T	C	10: 6,900,736	E289G	probably benign	Het
Ispd	T	A	12: 36,521,976	S344R	probably benign	Het
Kbtbd2	G	A	6: 56,779,012	R580W	probably damaging	Het
Kif21b	T	C	1: 136,171,707		probably null	Het
Ltbp2	G	A	12: 84,791,090	P1192L	probably benign	Het
Mmp27	A	T	9: 7,579,811	I429L	probably benign	Het
Mmp8	A	G	9: 7,567,291	D431G	possibly damaging	Het
Mpeg1	A	G	19: 12,462,464	T429A	probably benign	Het
Mterf1a	A	T	5: 3,891,539	Y110N	probably damaging	Het
Myh4	G	A	11: 67,255,309	A1398T	probably damaging	Het
Nr3c2	T	A	8: 76,909,344	M358K	probably benign	Het
Olfr1002	G	A	2: 85,648,160	R54*	probably null	Het
Olfr1162	A	T	2: 88,050,114	F170Y	probably damaging	Het
Olfr866	A	C	9: 20,027,343	S198R	probably benign	Het
Otof	A	G	5: 30,371,550	F1838S	probably damaging	Het
Pappa2	G	A	1: 158,847,963	T1071I	possibly damaging	Het
Pcdhb15	A	G	18: 37,474,741	D342G	probably damaging	Het
Pcdhgb7	T	C	18: 37,753,532	L585P	probably damaging	Het
Pde1c	A	T	6: 56,137,520	S469R	probably benign	Het
Pla2g6	A	G	15: 79,313,114	F87L	probably benign	Het
Rag2	A	T	2: 101,629,800	M152L	probably benign	Het
Rasa1	C	T	13: 85,288,613	A99T	unknown	Het
Rasgrp1	T	C	2: 117,282,651	N760S	probably benign	Het
Rgsl1	A	T	1: 153,794,152	M232K	probably benign	Het
Ryr1	G	A	7: 29,102,964	H744Y	probably damaging	Het
Slc1a4	A	G	11: 20,332,325	S50P	probably damaging	Het
Slc25a36	A	C	9: 97,100,180	L34R	probably damaging	Het
Slc39a12	A	T	2: 14,396,192	I127F	probably benign	Het
Sntb1	T	C	15: 55,906,375	T73A	probably benign	Het
Tbc1d14	T	C	5: 36,522,924		probably benign	Het
Tll2	T	A	19: 41,088,870	E819V	possibly damaging	Het
Trappc13	C	T	13: 104,154,301	A181T	probably benign	Het
Trbj1-1	A	G	6: 41,533,896	R11G		Het
Ubash3b	A	C	9: 41,161,581	I12S	unknown	Het
Usp37	T	C	1: 74,450,540	K828E	probably damaging	Het
Usp8	G	C	2: 126,720,024	S46T	unknown	Het
Zfp418	A	G	7: 7,181,409	T124A	possibly damaging	Het
Zfp72	T	C	13: 74,372,684	T92A	probably benign	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
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
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'- TCCATGAGAGTCTACCCAAGAG -3'
(R):5'- CACCATGGAAGGACAGGTTC -3'

Sequencing Primer
(F):5'- AAGGGGGTCACACCTTCATTC -3'
(R):5'- GAAGGACAGGTTCAAAGTCTCTCTC -3'

Posted On

2022-03-25