Mutagenetix > Incidental Mutation

Incidental Mutation 'R8113:Ccdc30'

630990

Institutional Source

Beutler Lab

Gene Symbol

Ccdc30

Ensembl Gene

ENSMUSG00000028637

Gene Name

coiled-coil domain containing 30

Synonyms

1700041C02Rik, 1700001O02Rik, 4930445I03Rik, 1700111D19Rik

MMRRC Submission

067542-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8113 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

119179665-119272718 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119230943 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 108 (E108G)

Ref Sequence

ENSEMBL: ENSMUSP00000081332 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044781] [ENSMUST00000063642] [ENSMUST00000084307] [ENSMUST00000143494]

AlphaFold

Q8BVF4

Predicted Effect

probably benign
Transcript: ENSMUST00000044781

SMART Domains

Protein: ENSMUSP00000047534
Gene: ENSMUSG00000028637

Domain	Start	End	E-Value	Type
low complexity region	85	99	N/A	INTRINSIC
Pfam:DUF4686	103	286	1.5e-78	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000063642

SMART Domains

Protein: ENSMUSP00000070621
Gene: ENSMUSG00000028637

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

Predicted Effect

probably benign
Transcript: ENSMUST00000084307
AA Change: E108G

PolyPhen 2 Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000081332
Gene: ENSMUSG00000028637
AA Change: E108G

Domain	Start	End	E-Value	Type
coiled coil region	16	43	N/A	INTRINSIC
coiled coil region	85	115	N/A	INTRINSIC
low complexity region	209	223	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000143494

SMART Domains

Protein: ENSMUSP00000118202
Gene: ENSMUSG00000028637

Domain	Start	End	E-Value	Type
Pfam:DUF4686	31	169	3.1e-63	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

96% (72/75)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy7	T	C	8: 89,048,431 (GRCm39)	S625P	probably damaging	Het
Agpat1	T	C	17: 34,830,586 (GRCm39)	V170A	probably damaging	Het
Alg9	C	T	9: 50,720,080 (GRCm39)	Q519*	probably null	Het
Apol8	C	T	15: 77,634,336 (GRCm39)	R80H	probably benign	Het
Arhgap25	G	T	6: 87,465,287 (GRCm39)	S118*	probably null	Het
Arhgap30	T	A	1: 171,225,086 (GRCm39)	Y47*	probably null	Het
Arhgap42	C	T	9: 9,011,434 (GRCm39)	D451N	probably damaging	Het
Cabp2	T	A	19: 4,135,582 (GRCm39)	F91I	probably damaging	Het
Cfap99	T	C	5: 34,458,763 (GRCm39)	S53P	probably damaging	Het
Clec5a	C	T	6: 40,556,361 (GRCm39)	R135H	possibly damaging	Het
Cops8	T	G	1: 90,531,325 (GRCm39)	D18E	probably benign	Het
Cped1	A	T	6: 22,233,480 (GRCm39)	M779L	possibly damaging	Het
Cyp4x1	G	A	4: 114,967,263 (GRCm39)	H438Y	probably damaging	Het
Disc1	A	T	8: 125,815,014 (GRCm39)	T293S	probably benign	Het
Ercc1	T	C	7: 19,084,102 (GRCm39)	L113S	probably damaging	Het
Ermp1	G	T	19: 29,593,196 (GRCm39)	N765K	probably benign	Het
Fam83c	A	G	2: 155,676,740 (GRCm39)	I10T	probably benign	Het
Farp1	T	C	14: 121,513,008 (GRCm39)	V788A	probably benign	Het
Fbn1	C	G	2: 125,319,489 (GRCm39)	G92R	probably damaging	Het
Fsd1	T	A	17: 56,302,881 (GRCm39)	M328K	probably benign	Het
Fzd3	C	A	14: 65,440,262 (GRCm39)	S636I	probably benign	Het
Gapvd1	A	G	2: 34,594,330 (GRCm39)	S886P	probably damaging	Het
Gatad2b	T	A	3: 90,249,029 (GRCm39)	D22E	probably benign	Het
Gm7168	A	T	17: 14,169,238 (GRCm39)	K202*	probably null	Het
Gmps	T	C	3: 63,887,690 (GRCm39)	I54T	probably damaging	Het
Gp6	A	G	7: 4,397,114 (GRCm39)	I107T	probably benign	Het
Gpat2	T	C	2: 127,273,267 (GRCm39)	V217A	possibly damaging	Het
Hdlbp	T	A	1: 93,344,917 (GRCm39)	I863F	probably damaging	Het
Hmcn1	A	C	1: 150,624,841 (GRCm39)	I1021M	possibly damaging	Het
Igkv6-14	C	T	6: 70,412,087 (GRCm39)	A66T	probably benign	Het
Ippk	C	T	13: 49,599,818 (GRCm39)	P226S		Het
Iqch	A	G	9: 63,361,855 (GRCm39)	I925T	probably benign	Het
Kcnt1	A	G	2: 25,791,223 (GRCm39)	E522G	possibly damaging	Het
Kremen2	C	G	17: 23,962,776 (GRCm39)	E103D	probably damaging	Het
Lig4	G	T	8: 10,023,485 (GRCm39)	N98K	probably benign	Het
Lrrc3b	T	G	14: 15,358,232 (GRCm38)	I125L	probably benign	Het
Lrrc4	T	C	6: 28,829,902 (GRCm39)	D148G	probably damaging	Het
Lrsam1	A	G	2: 32,837,901 (GRCm39)	Y218H	possibly damaging	Het
Mmrn2	G	A	14: 34,119,593 (GRCm39)	V191I	probably benign	Het
Nadk	T	A	4: 155,655,127 (GRCm39)		probably null	Het
Napb	C	A	2: 148,551,351 (GRCm39)	A61S	possibly damaging	Het
Ncan	T	A	8: 70,561,221 (GRCm39)	D582V	possibly damaging	Het
Ncl	T	C	1: 86,284,364 (GRCm39)	D244G	possibly damaging	Het
Nlrp14	A	G	7: 106,791,715 (GRCm39)	N800S	possibly damaging	Het
Nlrp9b	C	T	7: 19,753,260 (GRCm39)	T55M	probably benign	Het
Nobox	G	A	6: 43,282,951 (GRCm39)	T228I	probably benign	Het
Npffr1	C	A	10: 61,449,750 (GRCm39)	P8H	possibly damaging	Het
Nrg2	T	C	18: 36,154,156 (GRCm39)	Y587C	probably damaging	Het
Nsd1	T	G	13: 55,393,434 (GRCm39)	V448G	probably benign	Het
Or2w1	T	A	13: 21,317,371 (GRCm39)	V142D	probably benign	Het
Or5e1	G	T	7: 108,354,438 (GRCm39)	C125F	probably damaging	Het
Or8k41	T	G	2: 86,313,412 (GRCm39)	I225L	probably damaging	Het
Or9g20	A	G	2: 85,630,011 (GRCm39)	L201P	probably damaging	Het
Peg10	T	TCCC	6: 4,756,451 (GRCm39)		probably benign	Het
Ppp5c	T	C	7: 16,742,932 (GRCm39)	T229A	probably benign	Het
Pramel51	T	C	12: 88,143,850 (GRCm39)	Y329C	probably benign	Het
Prr5	C	T	15: 84,577,993 (GRCm39)	R101C	probably damaging	Het
Psg22	T	C	7: 18,456,987 (GRCm39)	M290T	probably benign	Het
Pzp	C	T	6: 128,490,694 (GRCm39)		probably null	Het
Rapgef6	T	C	11: 54,516,784 (GRCm39)	V347A	probably benign	Het
Rttn	A	T	18: 89,029,040 (GRCm39)	H586L	probably damaging	Het
Sema3f	A	T	9: 107,565,275 (GRCm39)	I259K	possibly damaging	Het
Sgpp1	A	T	12: 75,763,374 (GRCm39)	L269Q	probably damaging	Het
Slc22a8	A	C	19: 8,582,903 (GRCm39)	I195L	probably benign	Het
Slc35a5	T	C	16: 44,962,551 (GRCm39)	T425A	unknown	Het
Spata31e1	G	A	13: 49,939,548 (GRCm39)	R721C	probably benign	Het
Stard13	G	A	5: 150,986,970 (GRCm39)	T180I	probably damaging	Het
Stard9	G	A	2: 120,534,911 (GRCm39)	G3723S	probably benign	Het
Svil	A	T	18: 5,062,385 (GRCm39)	T902S	probably damaging	Het
Tnfaip8l3	T	A	9: 53,934,421 (GRCm39)	R185W	probably damaging	Het
Ttn	A	T	2: 76,590,393 (GRCm39)	D21105E	probably benign	Het
Vmn2r109	T	A	17: 20,774,729 (GRCm39)	M209L	probably benign	Het
Vmn2r125	A	G	4: 156,703,642 (GRCm39)	H340R	probably damaging	Het
Zfp946	T	C	17: 22,674,481 (GRCm39)	C412R	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
R1842:Ccdc30	UTSW	4	119,188,324 (GRCm39)	missense	probably benign
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
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'- TCAGACTCTTGGGATAATCAGCC -3'
(R):5'- TGACACCCGGAAAGCATTTAAC -3'

Sequencing Primer
(F):5'- AAAACCCTCTAGTTACTGTGCTCAG -3'
(R):5'- CCCGGAAAGCATTTAACTAAATCTC -3'

Posted On

2020-06-30