Mutagenetix > Incidental Mutation

Incidental Mutation 'R8752:Ccdc47'

663927

Institutional Source

Beutler Lab

Gene Symbol

Ccdc47

Ensembl Gene

ENSMUSG00000078622

Gene Name

coiled-coil domain containing 47

Synonyms

asp4, calumin, 2610204L23Rik

MMRRC Submission

068595-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8752 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106090086-106107349 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106095818 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 293 (Y293H)

Ref Sequence

ENSEMBL: ENSMUSP00000002043 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002043] [ENSMUST00000106865] [ENSMUST00000137915]

AlphaFold

Q9D024

Predicted Effect

probably damaging
Transcript: ENSMUST00000002043
AA Change: Y293H

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000002043
Gene: ENSMUSG00000078622
AA Change: Y293H

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	23	38	N/A	INTRINSIC
Pfam:DUF1682	134	467	2.1e-98	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106865

SMART Domains

Protein: ENSMUSP00000102478
Gene: ENSMUSG00000078622

Domain	Start	End	E-Value	Type
Pfam:DUF1682	1	158	9.4e-41	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000122736
Gene: ENSMUSG00000078622
AA Change: Y39H

Domain	Start	End	E-Value	Type
Pfam:DUF1682	1	212	1.3e-53	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000137915

SMART Domains

Protein: ENSMUSP00000117127
Gene: ENSMUSG00000078622

Domain	Start	End	E-Value	Type
Pfam:DUF1682	13	138	3.1e-32	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (55/55)

MGI Phenotype

PHENOTYPE: More than half of homozygous null mice die at early embryonic stages while the rest die shortly after birth. Mouse embryonic fibroblasts display insufficient Ca2+ contents in intracellular stores, impaired store-operated Ca2+ entry, and enhanced endoplasmic reticulum stress-induced apoptosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	T	C	11: 109,704,396 (GRCm39)	K82R	probably damaging	Het
Acad8	A	T	9: 26,896,853 (GRCm39)	M202K	probably damaging	Het
Adam29	A	T	8: 56,325,328 (GRCm39)	C375*	probably null	Het
Adat2	A	T	10: 13,432,604 (GRCm39)	E35D	probably benign	Het
Afm	A	C	5: 90,700,424 (GRCm39)	E600D	probably benign	Het
Ahnak	T	A	19: 8,992,901 (GRCm39)	D4728E	probably damaging	Het
Ak7	AAGGAG	AAG	12: 105,713,476 (GRCm39)		probably benign	Het
Ankrd28	C	A	14: 31,477,699 (GRCm39)		probably benign	Het
Ankrd31	A	T	13: 96,916,879 (GRCm39)	H131L	probably damaging	Het
Ano5	T	C	7: 51,196,617 (GRCm39)	F183L	probably damaging	Het
Asah1	G	A	8: 41,813,314 (GRCm39)	S33L	possibly damaging	Het
Catsperg2	T	C	7: 29,404,744 (GRCm39)	D773G	possibly damaging	Het
Cd302	A	G	2: 60,102,529 (GRCm39)	F30S	probably damaging	Het
Ces1c	C	G	8: 93,846,964 (GRCm39)	A243P	probably damaging	Het
Deptor	A	T	15: 55,044,280 (GRCm39)	T149S	probably benign	Het
Dnah14	G	A	1: 181,455,581 (GRCm39)	R902H	probably benign	Het
Dnah5	A	G	15: 28,290,365 (GRCm39)	I1252V	probably benign	Het
Dnah7c	A	G	1: 46,711,701 (GRCm39)	I2643V	probably benign	Het
Dnajc4	C	T	19: 6,966,801 (GRCm39)	V177I	probably benign	Het
Efhc1	A	T	1: 21,059,692 (GRCm39)	N581Y	probably benign	Het
Espl1	A	G	15: 102,214,759 (GRCm39)	T767A	probably damaging	Het
Etv6	A	G	6: 134,243,391 (GRCm39)	E382G	probably benign	Het
Foxd4	A	T	19: 24,878,094 (GRCm39)	D35E	probably damaging	Het
Gata2	T	C	6: 88,177,513 (GRCm39)	V181A	possibly damaging	Het
Gm5114	A	T	7: 39,057,927 (GRCm39)	M564K	probably damaging	Het
Gpr45	A	T	1: 43,071,842 (GRCm39)	I162F	possibly damaging	Het
Hic1	A	G	11: 75,060,206 (GRCm39)	F47S	probably benign	Het
Hsf1	C	A	15: 76,384,344 (GRCm39)	S417*	probably null	Het
Id4	A	T	13: 48,415,065 (GRCm39)	H31L	possibly damaging	Het
Il12rb2	T	C	6: 67,328,265 (GRCm39)	S322G	probably damaging	Het
Lcn11	T	C	2: 25,668,138 (GRCm39)	Y99H	probably damaging	Het
Mipol1	G	A	12: 57,372,367 (GRCm39)	R142Q	probably damaging	Het
Mpp2	A	G	11: 101,976,129 (GRCm39)	S10P	probably benign	Het
Muc15	A	T	2: 110,561,758 (GRCm39)	N65Y	possibly damaging	Het
Nav3	T	C	10: 109,596,165 (GRCm39)		probably benign	Het
Ndst3	C	T	3: 123,342,684 (GRCm39)	R709Q	probably damaging	Het
Nek11	G	T	9: 105,225,207 (GRCm39)	Q102K	probably benign	Het
Nhsl1	A	G	10: 18,407,113 (GRCm39)	N1416D	probably benign	Het
Or13p3	A	C	4: 118,567,083 (GRCm39)	T160P	probably damaging	Het
Or2v1	T	A	11: 49,025,505 (GRCm39)	V162E	possibly damaging	Het
Or4c111	T	C	2: 88,844,231 (GRCm39)	Y59C	probably damaging	Het
Or5p72	T	C	7: 108,022,480 (GRCm39)	I234T	probably benign	Het
Or5w20	T	C	2: 87,726,591 (GRCm39)	I16T	possibly damaging	Het
Parp4	G	T	14: 56,886,073 (GRCm39)	E1717D	unknown	Het
Pla2g4d	A	T	2: 120,099,248 (GRCm39)		probably null	Het
Pramel52-ps	A	T	5: 94,529,354 (GRCm39)	R41S	possibly damaging	Het
Psmc2	A	G	5: 22,001,533 (GRCm39)	I107V	probably benign	Het
Rhod	G	T	19: 4,476,121 (GRCm39)	T210N	probably damaging	Het
Setx	A	T	2: 29,048,992 (GRCm39)	D2006V	probably damaging	Het
Sfpq	T	A	4: 126,919,969 (GRCm39)	M541K	possibly damaging	Het
Sorbs1	C	T	19: 40,349,872 (GRCm39)		probably null	Het
Sv2b	C	A	7: 74,855,842 (GRCm39)	M149I	possibly damaging	Het
Svil	T	A	18: 5,060,366 (GRCm39)		probably benign	Het
Vmn1r216	G	T	13: 23,283,880 (GRCm39)	V188F	probably damaging	Het
Vmn2r27	A	G	6: 124,201,018 (GRCm39)	F313S	probably benign	Het
Vmn2r44	A	G	7: 8,370,805 (GRCm39)	F747S	probably damaging	Het
Vmn2r95	T	C	17: 18,661,738 (GRCm39)	S495P	probably damaging	Het
Xpo5	C	T	17: 46,547,838 (GRCm39)		probably benign	Het
Zscan20	A	C	4: 128,479,480 (GRCm39)	C1004G	probably damaging	Het

Other mutations in Ccdc47

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00952:Ccdc47	APN	11	106,094,358 (GRCm39)	splice site	probably null
IGL01890:Ccdc47	APN	11	106,096,277 (GRCm39)	missense	probably damaging	1.00
IGL02026:Ccdc47	APN	11	106,095,853 (GRCm39)	missense	probably damaging	0.96
IGL03343:Ccdc47	APN	11	106,095,788 (GRCm39)	missense	probably damaging	0.99
PIT4677001:Ccdc47	UTSW	11	106,099,034 (GRCm39)	missense	probably damaging	1.00
R1508:Ccdc47	UTSW	11	106,093,242 (GRCm39)	missense	probably damaging	1.00
R2239:Ccdc47	UTSW	11	106,092,960 (GRCm39)	missense	possibly damaging	0.93
R3103:Ccdc47	UTSW	11	106,093,667 (GRCm39)	missense	probably benign	0.00
R3935:Ccdc47	UTSW	11	106,092,823 (GRCm39)	unclassified	probably benign
R4783:Ccdc47	UTSW	11	106,094,430 (GRCm39)	missense	probably benign	0.03
R5150:Ccdc47	UTSW	11	106,096,265 (GRCm39)	missense	possibly damaging	0.92
R5331:Ccdc47	UTSW	11	106,101,176 (GRCm39)	missense	probably benign	0.17
R5362:Ccdc47	UTSW	11	106,099,039 (GRCm39)	splice site	probably null
R5417:Ccdc47	UTSW	11	106,101,176 (GRCm39)	missense	probably benign	0.17
R5420:Ccdc47	UTSW	11	106,101,176 (GRCm39)	missense	probably benign	0.17
R5473:Ccdc47	UTSW	11	106,095,855 (GRCm39)	missense	probably damaging	0.98
R6297:Ccdc47	UTSW	11	106,094,427 (GRCm39)	missense	probably damaging	0.99
R6449:Ccdc47	UTSW	11	106,095,811 (GRCm39)	missense	probably damaging	1.00
R6981:Ccdc47	UTSW	11	106,093,563 (GRCm39)	missense	probably benign	0.04
R7136:Ccdc47	UTSW	11	106,095,830 (GRCm39)	missense	probably benign	0.01
R7170:Ccdc47	UTSW	11	106,093,304 (GRCm39)	missense	probably benign	0.01
R7340:Ccdc47	UTSW	11	106,091,799 (GRCm39)	missense	possibly damaging	0.68
R7799:Ccdc47	UTSW	11	106,101,143 (GRCm39)	missense	possibly damaging	0.84
R8335:Ccdc47	UTSW	11	106,099,085 (GRCm39)	missense	probably damaging	1.00
R8335:Ccdc47	UTSW	11	106,099,084 (GRCm39)	missense	possibly damaging	0.85
R8487:Ccdc47	UTSW	11	106,092,971 (GRCm39)	missense	possibly damaging	0.61
R9157:Ccdc47	UTSW	11	106,093,208 (GRCm39)	critical splice donor site	probably null
R9504:Ccdc47	UTSW	11	106,101,155 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TCAGAGATTATTTGCCTGTTGC -3'
(R):5'- TCTCAGATGTTAAGCACCACTTC -3'

Sequencing Primer
(F):5'- GCTTTAGCAAGGGTCAAGTAAAATTC -3'
(R):5'- TAGCAGTCTGGGAAGAAC -3'

Posted On

2021-03-08