Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01890:Ccdc47'

179227

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc47

Ensembl Gene

ENSMUSG00000078622

Gene Name

coiled-coil domain containing 47

Synonyms

calumin, asp4, 2610204L23Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01890

Quality Score

Status

Chromosome

Chromosomal Location

106197408-106216344 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106205451 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 249 (V249A)

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: V249A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000002043
Gene: ENSMUSG00000078622
AA Change: V249A

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

probably benign
Transcript: ENSMUST00000125383

SMART Domains

Protein: ENSMUSP00000122736
Gene: ENSMUSG00000078622

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	A	T	12: 80,184,868	V265E	probably damaging	Het
Anks1b	A	G	10: 90,644,527	I865V	probably benign	Het
Car5a	G	A	8: 121,923,610	A182V	probably benign	Het
Cyb561d2	A	G	9: 107,541,523	V34A	probably damaging	Het
Dmbt1	A	G	7: 131,074,419		probably benign	Het
Entpd6	G	A	2: 150,770,692	D445N	possibly damaging	Het
Fastkd2	A	G	1: 63,732,161	I225M	probably benign	Het
Flcn	A	G	11: 59,795,170	V424A	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gpn3	A	G	5: 122,381,265	M176V	probably benign	Het
Igkv12-38	C	T	6: 69,943,405	C43Y	probably damaging	Het
Oas1h	A	G	5: 120,862,789		probably null	Het
Rexo1	A	T	10: 80,543,011	Y1064N	possibly damaging	Het
Skint1	G	A	4: 112,010,681	G2R	probably damaging	Het
Slc4a9	G	A	18: 36,529,707	A172T	possibly damaging	Het
Synpo2	A	G	3: 123,112,497	S727P	probably damaging	Het
Tmem131	A	T	1: 36,823,156		probably benign	Het
Trpm3	G	T	19: 22,711,719	R4L	probably damaging	Het
Upf1	A	T	8: 70,334,230	V879E	possibly damaging	Het
Vmn1r194	A	T	13: 22,244,606	Y131F	probably benign	Het
Vmn2r95	T	A	17: 18,451,475	N491K	probably damaging	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het

Other mutations in Ccdc47

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00952:Ccdc47	APN	11	106203532	splice site	probably null
IGL02026:Ccdc47	APN	11	106205027	missense	probably damaging	0.96
IGL03343:Ccdc47	APN	11	106204962	missense	probably damaging	0.99
PIT4677001:Ccdc47	UTSW	11	106208208	missense	probably damaging	1.00
R1508:Ccdc47	UTSW	11	106202416	missense	probably damaging	1.00
R2239:Ccdc47	UTSW	11	106202134	missense	possibly damaging	0.93
R3103:Ccdc47	UTSW	11	106202841	missense	probably benign	0.00
R3935:Ccdc47	UTSW	11	106201997	unclassified	probably benign
R4783:Ccdc47	UTSW	11	106203604	missense	probably benign	0.03
R5150:Ccdc47	UTSW	11	106205439	missense	possibly damaging	0.92
R5331:Ccdc47	UTSW	11	106210350	missense	probably benign	0.17
R5362:Ccdc47	UTSW	11	106208213	splice site	probably null
R5417:Ccdc47	UTSW	11	106210350	missense	probably benign	0.17
R5420:Ccdc47	UTSW	11	106210350	missense	probably benign	0.17
R5473:Ccdc47	UTSW	11	106205029	missense	probably damaging	0.98
R6297:Ccdc47	UTSW	11	106203601	missense	probably damaging	0.99
R6449:Ccdc47	UTSW	11	106204985	missense	probably damaging	1.00
R6981:Ccdc47	UTSW	11	106202737	missense	probably benign	0.04
R7136:Ccdc47	UTSW	11	106205004	missense	probably benign	0.01
R7170:Ccdc47	UTSW	11	106202478	missense	probably benign	0.01
R7340:Ccdc47	UTSW	11	106200973	missense	possibly damaging	0.68
R7799:Ccdc47	UTSW	11	106210317	missense	possibly damaging	0.84
R8335:Ccdc47	UTSW	11	106208258	missense	possibly damaging	0.85
R8335:Ccdc47	UTSW	11	106208259	missense	probably damaging	1.00
R8487:Ccdc47	UTSW	11	106202145	missense	possibly damaging	0.61
R8752:Ccdc47	UTSW	11	106204992	missense	probably damaging	0.99
R9157:Ccdc47	UTSW	11	106202382	critical splice donor site	probably null
R9504:Ccdc47	UTSW	11	106210329	missense	probably benign	0.01

Posted On

2014-05-07