Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03343:Ccdc47'

417318

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc47

Ensembl Gene

ENSMUSG00000078622

Gene Name

coiled-coil domain containing 47

Synonyms

asp4, calumin, 2610204L23Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03343

Quality Score

Status

Chromosome

Chromosomal Location

106090086-106107349 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106095788 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 303 (S303P)

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: S303P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000002043
Gene: ENSMUSG00000078622
AA Change: S303P

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

noncoding transcript
Transcript: ENSMUST00000122989

Predicted Effect

unknown
Transcript: ENSMUST00000125383
AA Change: S49P

SMART Domains

Protein: ENSMUSP00000122736
Gene: ENSMUSG00000078622
AA Change: S49P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153982

Coding Region Coverage

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts17	A	G	7: 66,725,064 (GRCm39)	H795R	probably damaging	Het
Adgrl2	A	T	3: 148,565,016 (GRCm39)	I188K	probably damaging	Het
Adgrv1	A	G	13: 81,431,507 (GRCm39)	Y5974H	probably damaging	Het
Angpt4	A	G	2: 151,778,623 (GRCm39)	T336A	probably damaging	Het
Arhgap30	C	A	1: 171,236,662 (GRCm39)	T1012N	probably damaging	Het
Asl	A	T	5: 130,040,908 (GRCm39)	Y178N	probably damaging	Het
Brd1	C	A	15: 88,591,454 (GRCm39)	L714F	possibly damaging	Het
Cdcp3	T	A	7: 130,848,420 (GRCm39)	I858N	probably damaging	Het
Cdk16	A	G	X: 20,561,998 (GRCm39)	K264E	probably damaging	Het
Cenpc1	A	T	5: 86,164,181 (GRCm39)	F813L	probably damaging	Het
Cfp	A	C	X: 20,794,248 (GRCm39)	F291C	possibly damaging	Het
Chordc1	T	G	9: 18,223,762 (GRCm39)	F276V	probably damaging	Het
Clic4	C	T	4: 134,945,889 (GRCm39)	R176H	possibly damaging	Het
Fcer1a	T	G	1: 173,053,040 (GRCm39)	N52T	possibly damaging	Het
Fndc7	A	T	3: 108,774,624 (GRCm39)	C545S	probably damaging	Het
Frem2	T	C	3: 53,559,674 (GRCm39)	D1611G	probably damaging	Het
Fryl	G	A	5: 73,234,038 (GRCm39)	P1496S	probably benign	Het
Gga3	A	T	11: 115,483,312 (GRCm39)	N82K	probably damaging	Het
Gm43638	G	A	5: 87,608,484 (GRCm39)	P452S	possibly damaging	Het
Gpn1	T	C	5: 31,662,309 (GRCm39)	S244P	probably damaging	Het
Hspa12a	T	C	19: 58,787,828 (GRCm39)	S665G	probably benign	Het
Htt	A	G	5: 34,983,385 (GRCm39)	I995V	probably benign	Het
Iars1	A	T	13: 49,878,223 (GRCm39)	I916L	probably benign	Het
Ice1	C	A	13: 70,751,048 (GRCm39)	L1679F	probably damaging	Het
Inpp1	A	T	1: 52,838,486 (GRCm39)	D54E	probably damaging	Het
Irf2bpl	T	C	12: 86,929,713 (GRCm39)	E320G	possibly damaging	Het
Itprid1	T	G	6: 55,945,569 (GRCm39)	D763E	probably damaging	Het
Kcnn2	T	C	18: 45,810,026 (GRCm39)	V421A	probably damaging	Het
Micu2	A	G	14: 58,154,768 (GRCm39)	V419A	probably benign	Het
Nek9	C	T	12: 85,350,383 (GRCm39)	C897Y	probably damaging	Het
Ofcc1	A	C	13: 40,226,140 (GRCm39)	H797Q	probably benign	Het
Or12d17	G	A	17: 37,777,300 (GRCm39)	D68N	probably damaging	Het
Or2y16	C	A	11: 49,335,070 (GRCm39)	H131N	probably damaging	Het
Or5m12	T	C	2: 85,735,285 (GRCm39)	T38A	probably benign	Het
Or6c69c	T	G	10: 129,911,125 (GRCm39)	L282R	probably damaging	Het
Pakap	C	T	4: 57,688,502 (GRCm39)	T115M	probably damaging	Het
Papss1	G	A	3: 131,288,950 (GRCm39)	G151S	probably benign	Het
Plxnb1	A	G	9: 108,943,780 (GRCm39)	T1956A	probably damaging	Het
Pomt1	A	G	2: 32,143,724 (GRCm39)		probably benign	Het
Ppfibp2	T	A	7: 107,337,126 (GRCm39)	Y570*	probably null	Het
Ppp1r9a	A	G	6: 5,046,015 (GRCm39)	E493G	probably damaging	Het
Ptk2b	A	G	14: 66,406,870 (GRCm39)	F621L	probably benign	Het
Ptpn13	G	T	5: 103,702,816 (GRCm39)	D1261Y	possibly damaging	Het
Ptprd	C	T	4: 75,977,966 (GRCm39)	G181D	probably damaging	Het
Rabgap1l	T	C	1: 160,270,853 (GRCm39)	T645A	probably benign	Het
Slc2a7	T	C	4: 150,252,797 (GRCm39)	I479T	probably damaging	Het
Smc3	A	G	19: 53,602,273 (GRCm39)	N40S	probably damaging	Het
Spata31	A	T	13: 65,067,587 (GRCm39)	D83V	probably benign	Het
Sptb	C	T	12: 76,630,330 (GRCm39)		probably benign	Het
Ssc4d	A	T	5: 135,990,028 (GRCm39)	C493*	probably null	Het
Styxl2	T	C	1: 165,927,017 (GRCm39)	D865G	probably benign	Het
Ubr2	C	A	17: 47,262,844 (GRCm39)	V1256L	probably benign	Het
Ubr3	T	C	2: 69,803,490 (GRCm39)		probably benign	Het
Vmn2r105	C	T	17: 20,446,631 (GRCm39)	W456*	probably null	Het
Vmn2r24	T	A	6: 123,793,070 (GRCm39)	I799N	probably damaging	Het
Vps13b	G	A	15: 35,917,316 (GRCm39)	G3720D	possibly 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
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
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

Posted On

2016-08-02