Mutagenetix > Incidental Mutation

Incidental Mutation 'R8487:Ccdc47'

657806

Institutional Source

Beutler Lab

Gene Symbol

Ccdc47

Ensembl Gene

ENSMUSG00000078622

Gene Name

coiled-coil domain containing 47

Synonyms

asp4, calumin, 2610204L23Rik

MMRRC Submission

067930-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8487 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106090086-106107349 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 106092971 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 92 (V92L)

Ref Sequence

ENSEMBL: ENSMUSP00000117127 (fasta)

Gene Model

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

AlphaFold

Q9D024

Predicted Effect

possibly damaging
Transcript: ENSMUST00000002043
AA Change: V413L

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000002043
Gene: ENSMUSG00000078622
AA Change: V413L

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

possibly damaging
Transcript: ENSMUST00000106865
AA Change: V97L

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000102478
Gene: ENSMUSG00000078622
AA Change: V97L

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000122736
Gene: ENSMUSG00000078622
AA Change: V159L

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000137915
AA Change: V92L

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000117127
Gene: ENSMUSG00000078622
AA Change: V92L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	T	C	3: 148,565,122 (GRCm39)	I153V	probably benign	Het
Arhgap21	A	C	2: 20,886,116 (GRCm39)	S354A	probably benign	Het
Bcan	T	C	3: 87,896,516 (GRCm39)	T727A	probably damaging	Het
Brinp1	C	T	4: 68,747,692 (GRCm39)	G137E	probably damaging	Het
Catsperd	A	G	17: 56,970,419 (GRCm39)	Y697C	probably damaging	Het
Ccdc39	T	A	3: 33,886,808 (GRCm39)	K267*	probably null	Het
Cyp2c54	A	T	19: 40,059,990 (GRCm39)	I181N	probably damaging	Het
Ddx60	A	T	8: 62,427,184 (GRCm39)	D753V	probably damaging	Het
Dlg2	A	T	7: 91,935,796 (GRCm39)	K641N	probably damaging	Het
Eloa	G	A	4: 135,736,668 (GRCm39)	R527C	probably benign	Het
Fancd2	C	T	6: 113,545,187 (GRCm39)	P835L	probably damaging	Het
Fbln2	C	G	6: 91,227,846 (GRCm39)	T428S	probably damaging	Het
Fbn2	G	A	18: 58,153,462 (GRCm39)	A2600V	possibly damaging	Het
Gbe1	A	G	16: 70,233,876 (GRCm39)	Y251C	probably damaging	Het
Gnptab	T	A	10: 88,268,508 (GRCm39)		probably null	Het
Hspa1a	T	A	17: 35,191,033 (GRCm39)		probably benign	Het
Ifi204	G	A	1: 173,587,839 (GRCm39)	P107S	probably damaging	Het
Kif6	A	G	17: 49,978,164 (GRCm39)	I119V	probably damaging	Het
Lmntd2	G	A	7: 140,790,427 (GRCm39)	H554Y	probably benign	Het
Lrrc8e	C	A	8: 4,284,218 (GRCm39)	H148N	probably damaging	Het
Lrriq1	T	C	10: 103,050,914 (GRCm39)	N613D	probably damaging	Het
Map4k4	C	T	1: 40,028,136 (GRCm39)	T319M	probably damaging	Het
Mbtps1	C	T	8: 120,268,413 (GRCm39)	V253I	probably damaging	Het
Mcm4	C	A	16: 15,450,042 (GRCm39)	C330F	probably damaging	Het
Mok	A	G	12: 110,776,341 (GRCm39)		probably null	Het
Nedd4	T	C	9: 72,577,321 (GRCm39)	C49R	probably damaging	Het
Nlrp4e	T	C	7: 23,020,983 (GRCm39)	V490A	probably benign	Het
Nsf	A	T	11: 103,819,584 (GRCm39)	F27I	probably damaging	Het
Or10g3b	A	T	14: 52,586,696 (GRCm39)	L269Q	probably damaging	Het
Or14c44	A	G	7: 86,061,647 (GRCm39)	S26G	probably benign	Het
Or4a47	T	C	2: 89,665,609 (GRCm39)	N227D	probably benign	Het
Or5p73	G	T	7: 108,064,784 (GRCm39)	M84I	possibly damaging	Het
Or6c66	A	G	10: 129,461,114 (GRCm39)	I272T	possibly damaging	Het
Pax1	A	G	2: 147,206,968 (GRCm39)	M1V	probably null	Het
Pcdhga12	A	G	18: 37,900,631 (GRCm39)	T488A	probably damaging	Het
Plekhh2	A	G	17: 84,864,909 (GRCm39)	D99G	possibly damaging	Het
Polr3h	T	C	15: 81,800,824 (GRCm39)	T173A	probably benign	Het
Pramel6	C	T	2: 87,339,045 (GRCm39)	L82F	probably damaging	Het
Ralgapa2	A	T	2: 146,230,463 (GRCm39)	I1034N	probably damaging	Het
Rbfox1	G	A	16: 7,042,319 (GRCm39)	V58I	probably damaging	Het
Reln	T	A	5: 22,104,027 (GRCm39)	I3315L	probably benign	Het
Rev3l	T	A	10: 39,682,844 (GRCm39)	S321T	probably damaging	Het
Ryr1	T	C	7: 28,740,292 (GRCm39)	T3908A	probably damaging	Het
Secisbp2l	G	T	2: 125,617,502 (GRCm39)	Y58*	probably null	Het
Sgms1	C	A	19: 32,102,697 (GRCm39)	V337L	probably benign	Het
Slc38a2	G	A	15: 96,593,172 (GRCm39)	Q136*	probably null	Het
Smarcd1	T	A	15: 99,605,657 (GRCm39)	V296D	probably damaging	Het
Smcr8	A	C	11: 60,674,822 (GRCm39)	H866P	probably damaging	Het
Spcs1	T	A	14: 30,722,721 (GRCm39)	I33L	probably benign	Het
Stxbp5	T	C	10: 9,688,033 (GRCm39)	R423G	possibly damaging	Het
Syt4	A	T	18: 31,576,790 (GRCm39)	M188K	possibly damaging	Het
Tchhl1	A	G	3: 93,376,869 (GRCm39)	D22G	probably damaging	Het
Tiparp	T	A	3: 65,453,655 (GRCm39)	N134K	probably benign	Het
Topaz1	A	G	9: 122,579,001 (GRCm39)	D637G	possibly damaging	Het
Trav14d-3-dv8	A	T	14: 53,316,192 (GRCm39)		probably benign	Het
Vmn1r19	A	T	6: 57,382,166 (GRCm39)	M240L	probably benign	Het
Vmn1r77	T	A	7: 11,775,514 (GRCm39)	S29T	probably damaging	Het
Vps13d	A	G	4: 144,881,817 (GRCm39)	F1253L	probably benign	Het
Zfp407	G	A	18: 84,580,895 (GRCm39)	R73*	probably null	Het
Zfp446	T	A	7: 12,716,555 (GRCm39)	F334I	possibly damaging	Het
Zfp654	A	T	16: 64,606,011 (GRCm39)	Y730*	probably null	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
R8752:Ccdc47	UTSW	11	106,095,818 (GRCm39)	missense	probably damaging	0.99
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'- CACATAATAGAGAAGCTGAGCCCAG -3'
(R):5'- CAAACCAGCCCCTATTATTGTTGG -3'

Sequencing Primer
(F):5'- AGCAGCCGAGCCTCTGAG -3'
(R):5'- TGATGGGCAGCAGCTGTCAG -3'

Posted On

2021-01-18