Mutagenetix > Incidental Mutations

Incidental Mutation 'RF003:Ccdc33'

602637

Institutional Source

Beutler Lab

Gene Symbol

Ccdc33

Ensembl Gene

ENSMUSG00000037716

Gene Name

coiled-coil domain containing 33

Synonyms

LOC382077, 4930535E21Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF003 (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 C at 58058291 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 583 (S583G)

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: S398G

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000040899
Gene: ENSMUSG00000037716
AA Change: S398G

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: S583G

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000096279
Gene: ENSMUSG00000037716
AA Change: S583G

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: S398G

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000112613
Gene: ENSMUSG00000037716
AA Change: S398G

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: S583G

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.2%
20x: 98.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	AACC	A	7: 40,993,055		probably benign	Het
A630073D07Rik	A	C	6: 132,627,443	L13R	unknown	Het
Alg9	GGC	GGCCGC	9: 50,775,427		probably benign	Het
Arc	G	C	15: 74,672,131	T81S	probably benign	Het
Atad5	A	T	11: 80,111,560	K1059N	probably damaging	Het
Bdp1	C	A	13: 100,060,449	V1143F	probably benign	Het
Bdp1	C	A	13: 100,060,450	Q1142H	probably benign	Het
Cd109	TTAT	TTATTTATTTATATAT	9: 78,712,531		probably benign	Het
Cep192	A	T	18: 67,837,956	R1009S	probably benign	Het
Clvs2	T	A	10: 33,622,925	H3L	probably damaging	Het
Cnot6	T	C	11: 49,702,613	M14V	probably benign	Het
Colec10	A	G	15: 54,462,391	R206G	possibly damaging	Het
Dennd6a	T	C	14: 26,629,534	I598T	probably damaging	Het
Dmrt2	T	C	19: 25,678,134	S366P	probably damaging	Het
Dnmt1	AGTTCCTACCTCGTT	AGTTCCTACCTCGTTTTGGGGGCGGAGCACCGTTCCTACCTCGTT	9: 20,910,131		probably null	Het
Efhb	T	C	17: 53,400,891	D748G	probably damaging	Het
Etl4	C	T	2: 20,519,918	Q21*	probably null	Het
Fam172a	A	T	13: 77,834,675	I135L	possibly damaging	Het
Fam71e1	C	CGGAGGGAGGAAGGCTGGATCCTGGATACCTGGGTA	7: 44,500,527		probably null	Het
Flywch1	CCACTCCTGGTGT	CCACTCCTGGTGTGGGGAGGCTACGTACTCACACACTCCTGGTGT	17: 23,762,166		probably null	Het
Fmn1	ACCTCC	ACCTCCCCCTCC	2: 113,525,786		probably benign	Het
Fsip2	T	A	2: 82,991,521	M5866K	probably benign	Het
Gab3	CTT	CTTATT	X: 75,000,006		probably null	Het
Gnl2	T	A	4: 125,043,725		probably null	Het
Grip2	C	T	6: 91,783,593	R341Q	probably benign	Het
Hmcn1	T	A	1: 150,624,561	H3960L	probably damaging	Het
Igkv6-25	T	A	6: 70,215,778	Y56*	probably null	Het
Il12a	A	T	3: 68,695,229	T102S	probably benign	Het
Il1a	T	A	2: 129,302,932	I189F	possibly damaging	Het
Inpp4b	T	A	8: 81,969,521	Y361*	probably null	Het
Iqcf4	CTTTTCCTTTTCCTTTT	CTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCATTTTCCTTTTCCTTTT	9: 106,570,607		probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,850,378		probably benign	Het
Las1l	AGTGG	AGTGGTGG	X: 95,940,816		probably benign	Het
Lrmp	AGCACATTG	AGCACATTGTGCACATTG	6: 145,173,783		probably benign	Het
Lrrc8d	T	C	5: 105,812,641	Y306H	probably damaging	Het
Mamld1	AGC	AGCCGC	X: 71,118,820		probably benign	Het
Map1a	CTCCAGCTCCAGCTCCAGCTCCA	CTCCAGCTCCAGCTCCAGCTCCAGCTCCAGATCCAGCTCCAGCTCCAGCTCCA	2: 121,306,296		probably benign	Het
Map1b	G	T	13: 99,430,750	A1821E	unknown	Het
Maz	A	G	7: 127,025,497	C284R	probably damaging	Het
Med23	A	G	10: 24,903,785	H920R	probably damaging	Het
Megf10	CCAGCAGCAGCAGCAGCAGCAG	CCAGCAGCAGCAGCAGCAG	18: 57,294,027		probably benign	Het
Mmp14	C	T	14: 54,439,014	R339*	probably null	Het
Mroh9	T	G	1: 163,058,061	K334T	probably damaging	Het
Nab1	A	T	1: 52,479,282	C320S	probably damaging	Het
Noto	T	C	6: 85,424,210	S74P	probably benign	Het
Nudt4	T	C	10: 95,549,374	N152D	possibly damaging	Het
Nup155	T	TTTTG	15: 8,119,176		probably benign	Het
Nusap1	AGCTGAGA	AGCTGAGATACACGTTAGCAGTGAGGAGCAGGCTGAGA	2: 119,627,603		probably benign	Het
Olfr118	A	C	17: 37,672,858	K278N	probably damaging	Het
Olfr330	CA	C	11: 58,529,157		probably null	Het
Olfr461	T	C	6: 40,544,362	I206V	probably benign	Het
Olfr585	GTTAT	GTTATTAT	7: 103,098,305			Het
Olfr585	TTA	TTAGTA	7: 103,098,306		probably null	Het
Olfr710	T	A	7: 106,944,648	M118L	probably damaging	Het
Olfr828	T	C	9: 18,815,482	T271A	probably benign	Het
Plxnc1	T	C	10: 94,794,444	Y1531C	probably damaging	Het
Pnmal2	TGA	TGAAGA	7: 16,946,016		probably benign	Het
Rp1	A	G	1: 4,344,694	V2065A	probably damaging	Het
Sbp	AAGATGCTGACAACA	AAGATGCTGACAACAGAGATGCTGACAACA	17: 23,945,369		probably benign	Het
Sepsecs	G	A	5: 52,647,191	T379M	probably benign	Het
Sfswap	GGCC	GGCCCACTCTGCC	5: 129,569,764		probably benign	Het
Six3	GCG	GCGTCG	17: 85,621,370		probably benign	Het
Tfeb	C	T	17: 47,788,078	T259I	possibly damaging	Het
Tgoln1	A	AAACTCAG	6: 72,616,352		probably null	Het
Tmem94	G	A	11: 115,796,132	V1108M	probably damaging	Het
Usp35	T	C	7: 97,322,096	K297E	possibly damaging	Het
Vcpkmt	T	A	12: 69,582,824	T55S	possibly damaging	Het
Zfp384	GCCCAGGCCCAGGCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG	6: 125,036,471		probably benign	Het
Zfp384	GGCCC	GGCCCTGGCCCAAGCCC	6: 125,036,476		probably benign	Het
Zfp384	GCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAG	6: 125,036,483		probably benign	Het
Zfp407	A	T	18: 84,209,563	S1974T	probably benign	Het
Zfp677	T	C	17: 21,397,442	S254P	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
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
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'- AGTCTACCCAAGAGGCGAAG -3'
(R):5'- CTCAGGAAGCTTGAAGTATAGCAG -3'

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

Posted On

2019-12-04