Mutagenetix > Incidental Mutations

Incidental Mutation 'R9361:Ccdc33'

708704

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 #

R9361 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58028677-58118823 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 58117625 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 106 (C106Y)

Ref Sequence

ENSEMBL: ENSMUSP00000096279 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000098681
AA Change: C106Y

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098682
AA Change: C106Y

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000096279
Gene: ENSMUSG00000037716
AA Change: C106Y

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

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

probably damaging
Transcript: ENSMUST00000215944
AA Change: C106Y

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1190005I06Rik	C	T	8: 120,634,321	A12T	unknown	Het
2810474O19Rik	T	G	6: 149,326,634	S393A	possibly damaging	Het
4933402N22Rik	C	T	5: 11,920,679	T105M		Het
A430089I19Rik	G	T	5: 94,303,142	P375H	probably damaging	Het
Aasdh	T	A	5: 76,882,378	T792S	probably benign	Het
Actl11	T	A	9: 107,928,625	L49Q	probably damaging	Het
Adcy3	G	T	12: 4,209,366	R881L	possibly damaging	Het
Alox15	T	G	11: 70,350,853	K67N	probably damaging	Het
Amotl1	C	T	9: 14,593,381	R177Q	probably benign	Het
Ankrd34c	T	A	9: 89,730,130	I53F	probably damaging	Het
Atp8b5	T	A	4: 43,369,658	F932Y	possibly damaging	Het
Bckdk	A	G	7: 127,907,343	M281V	probably benign	Het
Celsr3	T	A	9: 108,849,322	I3250N	probably damaging	Het
Ces1g	A	T	8: 93,335,018		probably null	Het
Ces2b	G	A	8: 104,837,407		probably null	Het
Clspn	A	T	4: 126,585,861	D1033V	probably damaging	Het
Cntln	G	T	4: 85,049,914	R790I	probably benign	Het
Cspg4	T	C	9: 56,896,593	V1656A	probably damaging	Het
Dlgap1	A	T	17: 70,761,264	D610V	probably damaging	Het
Eya4	C	A	10: 23,109,867	G579W	probably damaging	Het
Fam46b	G	T	4: 133,486,150	A111S	probably damaging	Het
Fam83b	T	C	9: 76,492,794	I342M	probably benign	Het
Fhdc1	A	C	3: 84,448,833	C435G	probably damaging	Het
Fktn	G	A	4: 53,734,854	G125D	probably benign	Het
Fras1	T	G	5: 96,776,698	L3666R	probably damaging	Het
Gm11639	C	T	11: 105,005,698	T4291I	probably benign	Het
Gm21560	T	A	14: 6,218,262	H72L	possibly damaging	Het
Gtsf2	C	T	15: 103,439,639	W148*	probably null	Het
Gucy2c	T	C	6: 136,737,431	K466E	possibly damaging	Het
Higd2a	T	A	13: 54,590,307	D14E	probably benign	Het
Hlcs	C	T	16: 94,138,940	V513M	probably benign	Het
Ido1	T	C	8: 24,589,585	T148A	probably benign	Het
Ighv1-5	T	A	12: 114,513,365	T106S	probably damaging	Het
Igkv4-92	T	C	6: 68,755,106	T95A	possibly damaging	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,189,077		probably benign	Het
Larp4b	T	G	13: 9,149,901	F278V	probably damaging	Het
Lrch4	G	A	5: 137,636,814	R225H	probably damaging	Het
Mapkbp1	T	C	2: 120,014,771	Y378H	probably benign	Het
Nme9	T	A	9: 99,459,722	C42S	probably damaging	Het
Olfr1380	A	G	11: 49,564,476	K185R	probably damaging	Het
Pdlim2	T	G	14: 70,164,741	T309P	probably damaging	Het
Prodh	C	T	16: 18,080,970	C207Y	probably benign	Het
Prom1	A	T	5: 44,055,887	L168Q	probably damaging	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,819,695		probably benign	Het
Shkbp1	T	C	7: 27,352,067	Q189R	probably benign	Het
Skint4	T	C	4: 112,143,824	L372S	probably damaging	Het
Slc4a11	C	T	2: 130,691,744	A100T	probably damaging	Het
Specc1	A	T	11: 62,146,318	E699D	probably benign	Het
St5	A	G	7: 109,527,784	S907P	probably damaging	Het
Syt6	C	A	3: 103,575,363		probably benign	Het
Tg	A	G	15: 66,685,397	E969G	possibly damaging	Het
Tie1	A	C	4: 118,479,632	H632Q	probably benign	Het
Trappc12	A	G	12: 28,746,418	W372R	probably damaging	Het
Trav7d-4	T	C	14: 52,770,149	V33A	probably damaging	Het
Ugdh	A	T	5: 65,418,543	N324K	probably damaging	Het
Vmn2r79	G	T	7: 87,003,614		probably null	Het
Washc2	T	C	6: 116,262,472	*1335Q	probably null	Het
Yme1l1	C	T	2: 23,191,051	T445I	possibly damaging	Het
Zdhhc11	T	C	13: 73,974,618	C158R	probably damaging	Het
Zfp128	T	C	7: 12,890,437	L244P	probably damaging	Het
Zfp445	T	A	9: 122,861,822	I103F	probably damaging	Het
Zfp980	A	T	4: 145,701,429	T243S	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
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
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'- TTGCCACAATAGCGGTACAG -3'
(R):5'- TATAGGCCTCCTCACTCTGGTG -3'

Sequencing Primer
(F):5'- CACAATAGCGGTACAGGTCTTCATG -3'
(R):5'- CTCACTCTGGTGGGGTCACATG -3'

Posted On

2022-04-18