Mutagenetix > Incidental Mutation

Incidental Mutation 'R1842:Ccdc30'

205806

Institutional Source

Beutler Lab

Gene Symbol

Ccdc30

Ensembl Gene

ENSMUSG00000028637

Gene Name

coiled-coil domain containing 30

Synonyms

1700041C02Rik, 1700001O02Rik, 4930445I03Rik, 1700111D19Rik

MMRRC Submission

039867-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1842 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119179665-119272718 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119188324 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 566 (E566G)

Ref Sequence

ENSEMBL: ENSMUSP00000070621 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063642]

AlphaFold

Q8BVF4

Predicted Effect

probably benign
Transcript: ENSMUST00000063642
AA Change: E566G

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

SMART Domains

Protein: ENSMUSP00000070621
Gene: ENSMUSG00000028637
AA Change: E566G

Domain	Start	End	E-Value	Type
Pfam:DUF4686	170	547	5.1e-155	PFAM
low complexity region	555	568	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000118722

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154606

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.8%
20x: 90.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	G	T	11: 110,087,865 (GRCm39)	N1087K	probably benign	Het
Abcc3	G	A	11: 94,250,438 (GRCm39)	T921I	probably benign	Het
Abr	T	A	11: 76,399,812 (GRCm39)	I4F	probably damaging	Het
Adcy10	T	A	1: 165,330,812 (GRCm39)	V25D	probably damaging	Het
Ahnak	T	A	19: 8,983,231 (GRCm39)	M1505K	probably damaging	Het
Alms1-ps2	T	C	6: 85,773,231 (GRCm39)		noncoding transcript	Het
Apob	C	G	12: 8,061,559 (GRCm39)	T3347S	probably damaging	Het
Arhgap27	C	A	11: 103,230,822 (GRCm39)	G11W	probably damaging	Het
Ccdc110	A	T	8: 46,393,605 (GRCm39)	I106F	probably damaging	Het
Ccdc28b	T	A	4: 129,514,806 (GRCm39)	D101V	probably damaging	Het
Cenpm	T	C	15: 82,123,565 (GRCm39)	S111G	probably benign	Het
Cep55	A	G	19: 38,046,348 (GRCm39)	I34V	probably benign	Het
Dcdc2a	T	C	13: 25,291,585 (GRCm39)	L190S	probably damaging	Het
Dhh	T	C	15: 98,792,441 (GRCm39)		probably null	Het
Dst	A	G	1: 34,203,200 (GRCm39)	N703S	probably null	Het
E030025P04Rik	G	A	11: 109,030,396 (GRCm39)	L164F	unknown	Het
Efcab5	A	G	11: 77,025,701 (GRCm39)	V538A	probably benign	Het
Egflam	A	G	15: 7,333,422 (GRCm39)	S177P	probably benign	Het
Ehbp1l1	A	T	19: 5,775,958 (GRCm39)	C31S	probably damaging	Het
Eif2d	C	A	1: 131,098,797 (GRCm39)	Q532K	probably damaging	Het
Elf3	T	C	1: 135,184,531 (GRCm39)	D175G	possibly damaging	Het
F5	T	C	1: 164,012,129 (GRCm39)	V449A	probably damaging	Het
Fam110a	A	T	2: 151,811,954 (GRCm39)	I272N	probably damaging	Het
Fbxo34	A	G	14: 47,768,464 (GRCm39)	D608G	probably damaging	Het
Flrt2	T	C	12: 95,746,058 (GRCm39)	L132P	probably damaging	Het
Frg2f1	A	T	4: 119,388,277 (GRCm39)	V74D	possibly damaging	Het
Gad1	G	T	2: 70,404,597 (GRCm39)	E162D	probably benign	Het
Glb1l	A	G	1: 75,177,104 (GRCm39)	V444A	probably damaging	Het
Gm10770	G	A	2: 150,021,076 (GRCm39)	T147I	probably damaging	Het
Gm43302	T	C	5: 105,425,602 (GRCm39)	I276V	probably benign	Het
Greb1	T	C	12: 16,746,244 (GRCm39)	H1314R	probably damaging	Het
Hapln2	A	G	3: 87,931,308 (GRCm39)	V69A	probably damaging	Het
Hcn1	T	C	13: 118,112,544 (GRCm39)	I836T	probably damaging	Het
Hspa5	A	G	2: 34,665,815 (GRCm39)	D553G	probably damaging	Het
Iqgap1	A	T	7: 80,410,631 (GRCm39)	I194N	probably damaging	Het
Kansl3	A	G	1: 36,390,825 (GRCm39)	V304A	probably damaging	Het
Kdm5d	C	T	Y: 927,798 (GRCm39)	S716L	probably damaging	Het
Klra6	T	C	6: 129,999,573 (GRCm39)	T132A	probably benign	Het
Krt26	CTAGTA	CTA	11: 99,224,352 (GRCm39)		probably benign	Het
Lrp1	A	G	10: 127,409,337 (GRCm39)	I1594T	possibly damaging	Het
Lrp2bp	A	G	8: 46,464,152 (GRCm39)	D15G	probably benign	Het
Map4k1	T	C	7: 28,686,588 (GRCm39)	L170P	probably damaging	Het
Mast3	A	G	8: 71,233,037 (GRCm39)	F1108L	possibly damaging	Het
Mettl5	G	T	2: 69,715,686 (GRCm39)	L6I	unknown	Het
Mfsd14a	A	T	3: 116,426,057 (GRCm39)	F447I	possibly damaging	Het
Mrc2	A	G	11: 105,228,546 (GRCm39)	I642V	probably damaging	Het
Necap1	A	G	6: 122,851,547 (GRCm39)	Y7C	probably damaging	Het
Nsd1	G	A	13: 55,394,258 (GRCm39)	E723K	probably damaging	Het
Nsun3	A	T	16: 62,596,755 (GRCm39)	L121H	probably damaging	Het
Nsun6	A	T	2: 15,014,288 (GRCm39)	M284K	probably damaging	Het
Nutf2	T	C	8: 106,603,242 (GRCm39)		probably null	Het
Odad2	A	T	18: 7,223,551 (GRCm39)	D497E	probably benign	Het
Or1j20	A	T	2: 36,759,601 (GRCm39)	N8Y	probably damaging	Het
Or5d38	A	T	2: 87,954,471 (GRCm39)	M286K	probably damaging	Het
Pacs1	T	C	19: 5,205,912 (GRCm39)	E288G	probably damaging	Het
Peg10	A	T	6: 4,756,381 (GRCm39)		probably benign	Het
Rab38	G	A	7: 88,099,730 (GRCm39)	E82K	possibly damaging	Het
Rgsl1	T	A	1: 153,675,543 (GRCm39)	E206V	probably damaging	Het
Saxo5	T	A	8: 3,533,668 (GRCm39)	F295L	possibly damaging	Het
Scube3	G	A	17: 28,384,063 (GRCm39)	V521I	probably damaging	Het
Sgpp1	C	T	12: 75,762,982 (GRCm39)	V400M	probably damaging	Het
Slc18b1	T	C	10: 23,681,891 (GRCm39)	S152P	possibly damaging	Het
Slit1	A	T	19: 41,709,477 (GRCm39)		probably null	Het
Spata31d1e	T	C	13: 59,890,320 (GRCm39)	Y82C	probably damaging	Het
Spta1	A	G	1: 174,023,513 (GRCm39)	K640R	probably benign	Het
Svil	A	G	18: 5,062,373 (GRCm39)	T898A	probably damaging	Het
Timm44	A	G	8: 4,310,510 (GRCm39)		probably null	Het
Tomm40	A	G	7: 19,447,650 (GRCm39)	S127P	probably benign	Het
Vmn2r23	T	A	6: 123,706,649 (GRCm39)	V493D	possibly damaging	Het
Yeats2	T	C	16: 19,989,988 (GRCm39)	V288A	probably damaging	Het
Zfhx4	C	T	3: 5,466,558 (GRCm39)	R2239W	probably damaging	Het
Zscan2	A	C	7: 80,525,301 (GRCm39)	K341Q	probably damaging	Het

Other mutations in Ccdc30

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01014:Ccdc30	APN	4	119,250,776 (GRCm39)	missense	possibly damaging	0.93
IGL01546:Ccdc30	APN	4	119,255,385 (GRCm39)	missense	probably damaging	0.99
IGL01691:Ccdc30	APN	4	119,250,761 (GRCm39)	missense	probably damaging	0.96
IGL02178:Ccdc30	APN	4	119,206,921 (GRCm39)	unclassified	probably benign
IGL02341:Ccdc30	APN	4	119,213,978 (GRCm39)	missense	possibly damaging	0.83
IGL03063:Ccdc30	APN	4	119,206,964 (GRCm39)	missense	possibly damaging	0.68
IGL03394:Ccdc30	APN	4	119,216,779 (GRCm39)	missense	probably damaging	1.00
doubledip	UTSW	4	119,181,253 (GRCm39)	missense	probably damaging	0.99
ladle	UTSW	4	119,190,920 (GRCm39)	critical splice acceptor site	probably null
G1patch:Ccdc30	UTSW	4	119,188,796 (GRCm39)	missense	probably damaging	1.00
R1587:Ccdc30	UTSW	4	119,210,373 (GRCm39)	missense	probably damaging	1.00
R1604:Ccdc30	UTSW	4	119,188,793 (GRCm39)	missense	probably damaging	0.99
R1962:Ccdc30	UTSW	4	119,196,988 (GRCm39)	missense	probably benign	0.00
R2157:Ccdc30	UTSW	4	119,190,921 (GRCm39)	splice site	probably benign
R2314:Ccdc30	UTSW	4	119,181,763 (GRCm39)	nonsense	probably null
R2362:Ccdc30	UTSW	4	119,181,253 (GRCm39)	missense	probably damaging	0.99
R3407:Ccdc30	UTSW	4	119,181,778 (GRCm39)	missense	possibly damaging	0.63
R3755:Ccdc30	UTSW	4	119,225,005 (GRCm39)	critical splice donor site	probably null
R3938:Ccdc30	UTSW	4	119,209,870 (GRCm39)	missense	probably benign	0.02
R4762:Ccdc30	UTSW	4	119,190,785 (GRCm39)	missense	probably damaging	0.98
R5014:Ccdc30	UTSW	4	119,250,824 (GRCm39)	missense	possibly damaging	0.96
R5635:Ccdc30	UTSW	4	119,216,871 (GRCm39)	missense	possibly damaging	0.66
R6282:Ccdc30	UTSW	4	119,181,214 (GRCm39)	missense	probably damaging	0.98
R6382:Ccdc30	UTSW	4	119,261,363 (GRCm39)	missense	possibly damaging	0.93
R6725:Ccdc30	UTSW	4	119,188,796 (GRCm39)	missense	probably damaging	1.00
R6746:Ccdc30	UTSW	4	119,213,915 (GRCm39)	missense	probably benign	0.03
R7230:Ccdc30	UTSW	4	119,196,979 (GRCm39)	missense	possibly damaging	0.89
R7576:Ccdc30	UTSW	4	119,207,063 (GRCm39)	missense	probably damaging	1.00
R7673:Ccdc30	UTSW	4	119,210,369 (GRCm39)	missense	probably damaging	1.00
R7719:Ccdc30	UTSW	4	119,190,813 (GRCm39)	missense	probably damaging	1.00
R7895:Ccdc30	UTSW	4	119,209,910 (GRCm39)	splice site	probably null
R8021:Ccdc30	UTSW	4	119,209,876 (GRCm39)	missense	probably benign	0.00
R8113:Ccdc30	UTSW	4	119,230,943 (GRCm39)	missense	probably benign	0.32
R8696:Ccdc30	UTSW	4	119,234,505 (GRCm39)	missense	possibly damaging	0.92
R8713:Ccdc30	UTSW	4	119,261,404 (GRCm39)	missense	probably damaging	0.99
R8885:Ccdc30	UTSW	4	119,181,759 (GRCm39)	missense	probably damaging	0.97
R8948:Ccdc30	UTSW	4	119,181,358 (GRCm39)	missense	probably benign
R9337:Ccdc30	UTSW	4	119,190,920 (GRCm39)	critical splice acceptor site	probably null
R9354:Ccdc30	UTSW	4	119,230,850 (GRCm39)	missense	possibly damaging	0.86
R9459:Ccdc30	UTSW	4	119,234,470 (GRCm39)	missense	possibly damaging	0.66
R9563:Ccdc30	UTSW	4	119,250,821 (GRCm39)	missense	possibly damaging	0.91
R9565:Ccdc30	UTSW	4	119,250,821 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- CCAAGTGACAAGCAGGACTC -3'
(R):5'- CAAGTACGTGCACTGAGCTC -3'

Sequencing Primer
(F):5'- GGACTCACCAAGATCAGTCACAGG -3'
(R):5'- GTGATGACACACATGCTTAGC -3'

Posted On

2014-06-23