Mutagenetix > Incidental Mutation

Incidental Mutation 'R1604:Ccdc30'

176322

Institutional Source

Beutler Lab

Gene Symbol

Ccdc30

Ensembl Gene

ENSMUSG00000028637

Gene Name

coiled-coil domain containing 30

Synonyms

1700041C02Rik, 1700001O02Rik, 4930445I03Rik, 1700111D19Rik

MMRRC Submission

039641-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1604 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119179665-119272718 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119188793 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 491 (I491T)

Ref Sequence

ENSEMBL: ENSMUSP00000070621 (fasta)

Gene Model

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

AlphaFold

Q8BVF4

Predicted Effect

probably damaging
Transcript: ENSMUST00000063642
AA Change: I491T

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000070621
Gene: ENSMUSG00000028637
AA Change: I491T

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: 99.0%
3x: 98.0%
10x: 95.3%
20x: 89.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldoart2	A	G	12: 55,612,405 (GRCm39)	D110G	probably damaging	Het
Angptl2	T	C	2: 33,133,785 (GRCm39)	M369T	possibly damaging	Het
Anks3	C	T	16: 4,766,117 (GRCm39)	V151M	probably damaging	Het
Arl6ip6	T	C	2: 53,082,508 (GRCm39)	L125P	probably damaging	Het
Bmp1	T	C	14: 70,745,444 (GRCm39)	Q247R	possibly damaging	Het
Cdhr1	T	A	14: 36,817,050 (GRCm39)	I104F	probably benign	Het
Cdk17	G	T	10: 93,068,360 (GRCm39)	M372I	probably damaging	Het
Cyp2c54	A	G	19: 40,058,787 (GRCm39)	V215A	probably benign	Het
D430041D05Rik	T	A	2: 104,035,487 (GRCm39)	I1614F	probably damaging	Het
Ddx55	A	G	5: 124,697,369 (GRCm39)	N244D	probably damaging	Het
Dop1b	G	T	16: 93,559,458 (GRCm39)	V617F	probably benign	Het
Erbb4	G	T	1: 68,385,728 (GRCm39)	A287E	possibly damaging	Het
Fmnl2	A	G	2: 52,995,549 (GRCm39)	E424G	probably damaging	Het
Gad2	T	C	2: 22,513,852 (GRCm39)		probably null	Het
Gm17421	G	A	12: 113,333,155 (GRCm39)		noncoding transcript	Het
Gm9894	T	A	13: 67,913,008 (GRCm39)		noncoding transcript	Het
Gnpat	T	C	8: 125,603,700 (GRCm39)	S193P	probably damaging	Het
Gpr20	C	T	15: 73,567,853 (GRCm39)	V179M	probably damaging	Het
Hdgf	T	A	3: 87,821,347 (GRCm39)		probably null	Het
Itgb8	A	T	12: 119,166,265 (GRCm39)	L89M	probably damaging	Het
Lnx2	T	C	5: 146,966,135 (GRCm39)	D328G	probably benign	Het
Lrguk	A	G	6: 34,049,305 (GRCm39)	T341A	possibly damaging	Het
Map1b	A	G	13: 99,566,080 (GRCm39)	S2214P	unknown	Het
Mms22l	T	C	4: 24,502,804 (GRCm39)	F131L	probably damaging	Het
Msmo1	A	G	8: 65,180,689 (GRCm39)	I75T	probably damaging	Het
Or10d1c	A	T	9: 38,893,914 (GRCm39)	M142K	probably benign	Het
Or2a56	G	A	6: 42,932,650 (GRCm39)	A73T	possibly damaging	Het
Or51k1	G	T	7: 103,661,162 (GRCm39)	A249E	probably damaging	Het
Or8c13	A	G	9: 38,091,645 (GRCm39)	V158A	probably benign	Het
Or8d2	T	G	9: 38,760,000 (GRCm39)	F197V	probably benign	Het
Pkhd1l1	C	T	15: 44,330,763 (GRCm39)	R113*	probably null	Het
Polr2m	T	C	9: 71,390,959 (GRCm39)	D81G	probably damaging	Het
Ppp1r15b	T	A	1: 133,060,287 (GRCm39)	M268K	probably benign	Het
Ptprcap	T	A	19: 4,206,073 (GRCm39)	L52*	probably null	Het
Rasgrp2	C	T	19: 6,457,087 (GRCm39)	T277I	possibly damaging	Het
Rrbp1	T	C	2: 143,831,310 (GRCm39)	N286D	probably damaging	Het
Scml2	G	T	X: 160,014,442 (GRCm39)	E566D	possibly damaging	Het
Scrib	A	C	15: 75,920,089 (GRCm39)	S1557A	probably damaging	Het
Sergef	C	A	7: 46,092,783 (GRCm39)	V409L	probably benign	Het
Shisal1	T	C	15: 84,290,672 (GRCm39)	M212V	probably benign	Het
Slc6a13	A	G	6: 121,309,328 (GRCm39)	M280V	probably benign	Het
Slc9a8	C	T	2: 167,313,352 (GRCm39)	P409S	probably benign	Het
Smarca4	CGAGGAGGAGGAGGAGG	CGAGGAGGAGGAGG	9: 21,612,239 (GRCm39)		probably benign	Het
Spc25	T	C	2: 69,035,498 (GRCm39)	D4G	probably damaging	Het
Specc1	C	T	11: 61,933,883 (GRCm39)	R88C	probably damaging	Het
Srsf11	C	T	3: 157,724,948 (GRCm39)		probably null	Het
Stt3b	T	C	9: 115,079,995 (GRCm39)	E639G	probably damaging	Het
Sult3a1	A	C	10: 33,742,616 (GRCm39)	E81A	probably damaging	Het
Taf1b	G	A	12: 24,606,623 (GRCm39)	G481D	probably benign	Het
Tgm4	T	C	9: 122,874,129 (GRCm39)	V123A	probably benign	Het
Tie1	G	T	4: 118,331,604 (GRCm39)	H973N	probably damaging	Het
Tmem117	C	T	15: 94,992,425 (GRCm39)	R362W	probably damaging	Het
Txnip	A	T	3: 96,466,277 (GRCm39)	Q107L	probably benign	Het
Ubap2	C	T	4: 41,199,872 (GRCm39)	A752T	probably benign	Het
Vcan	A	G	13: 89,837,780 (GRCm39)	V1628A	probably benign	Het
Vmn2r115	T	A	17: 23,564,245 (GRCm39)	M139K	probably benign	Het
Wwp1	A	G	4: 19,659,709 (GRCm39)	V193A	probably benign	Het
Zcchc8	C	T	5: 123,838,721 (GRCm39)	A606T	probably benign	Het
Zfp131	G	A	13: 120,230,316 (GRCm39)	L371F	probably damaging	Het
Zfp518b	T	C	5: 38,830,949 (GRCm39)	D352G	probably damaging	Het
Zfp784	A	G	7: 5,039,453 (GRCm39)		probably benign	Het
Zfp940	A	T	7: 29,545,500 (GRCm39)	F136I	probably benign	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
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
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'- GCCCTAAACATGGCACAAATTGGAG -3'
(R):5'- ACAATGCAAACAGGAGGCATCTAGC -3'

Sequencing Primer
(F):5'- ccctcccttcctccctc -3'
(R):5'- CATCTAGCATAACTAAGAATGATGCC -3'

Posted On

2014-04-24