Mutagenetix > Incidental Mutation

Incidental Mutation 'R6981:Ccdc47'

542691

Institutional Source

Beutler Lab

Gene Symbol

Ccdc47

Ensembl Gene

ENSMUSG00000078622

Gene Name

coiled-coil domain containing 47

Synonyms

asp4, calumin, 2610204L23Rik

MMRRC Submission

045089-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6981 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106090086-106107349 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106093563 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 41 (T41A)

Ref Sequence

ENSEMBL: ENSMUSP00000117127 (fasta)

Gene Model

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

AlphaFold

Q9D024

Predicted Effect

probably benign
Transcript: ENSMUST00000002043
AA Change: T362A

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000002043
Gene: ENSMUSG00000078622
AA Change: T362A

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
AA Change: T46A

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000102478
Gene: ENSMUSG00000078622
AA Change: T46A

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000122736
Gene: ENSMUSG00000078622
AA Change: T108A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000137915
AA Change: T41A

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000117127
Gene: ENSMUSG00000078622
AA Change: T41A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.7%

Validation Efficiency

99% (68/69)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	G	A	11: 58,184,544 (GRCm39)		probably benign	Het
5031439G07Rik	A	C	15: 84,833,798 (GRCm39)	Y419*	probably null	Het
Abca2	T	A	2: 25,334,151 (GRCm39)	F1809L	probably damaging	Het
Ache	C	T	5: 137,289,940 (GRCm39)	T423I	probably benign	Het
Acvrl1	A	G	15: 101,036,226 (GRCm39)	T395A	probably damaging	Het
Ap3b2	A	G	7: 81,127,741 (GRCm39)	I145T	probably damaging	Het
Arhgef4	A	C	1: 34,761,533 (GRCm39)	Q263P	unknown	Het
Asgr2	C	T	11: 69,987,636 (GRCm39)	L45F	probably damaging	Het
Baiap2l1	T	A	5: 144,222,389 (GRCm39)	Y122F	possibly damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Car8	A	T	4: 8,185,650 (GRCm39)		probably null	Het
Carns1	T	C	19: 4,220,081 (GRCm39)	T385A	probably benign	Het
Ccne1	A	T	7: 37,797,998 (GRCm39)		probably benign	Het
Cdh4	C	T	2: 179,439,297 (GRCm39)	T148I	probably benign	Het
Cep85	C	T	4: 133,879,572 (GRCm39)	R392Q	probably damaging	Het
Ces1h	T	C	8: 94,080,123 (GRCm39)	T464A	unknown	Het
Cfl1	T	A	19: 5,542,644 (GRCm39)	S41R	possibly damaging	Het
Crnn	T	C	3: 93,055,442 (GRCm39)	V76A	probably damaging	Het
Cspg4	A	G	9: 56,794,385 (GRCm39)	T707A	probably benign	Het
Dgkh	A	T	14: 78,865,182 (GRCm39)	C53*	probably null	Het
Dhx34	G	T	7: 15,949,255 (GRCm39)	A391E	possibly damaging	Het
Dlx1	C	A	2: 71,362,697 (GRCm39)	N201K	probably benign	Het
Dnah6	T	C	6: 72,998,161 (GRCm39)	E4087G	probably benign	Het
Dock6	T	C	9: 21,756,846 (GRCm39)	Y134C	probably damaging	Het
Duox2	A	G	2: 122,121,708 (GRCm39)	V662A	possibly damaging	Het
Dusp12	A	G	1: 170,708,530 (GRCm39)	F12L	probably damaging	Het
Eppk1	T	C	15: 75,995,237 (GRCm39)	E548G	probably benign	Het
Foxj2	A	G	6: 122,819,798 (GRCm39)	D562G	probably benign	Het
Foxj2	A	G	6: 122,805,403 (GRCm39)	I92V	probably damaging	Het
Gm17728	A	G	17: 9,640,991 (GRCm39)	R34G	probably damaging	Het
Gpc6	T	C	14: 117,861,960 (GRCm39)	I292T	probably damaging	Het
Gpr15	T	A	16: 58,538,548 (GRCm39)	K180N	probably benign	Het
Gtf2ird1	G	T	5: 134,412,776 (GRCm39)		probably benign	Het
H2ac12	A	G	13: 22,219,719 (GRCm39)	S2P	probably benign	Het
Hps3	T	A	3: 20,076,984 (GRCm39)	T393S	probably damaging	Het
Hspa1a	A	T	17: 35,189,267 (GRCm39)		probably null	Het
Hydin	A	G	8: 111,257,704 (GRCm39)	E2378G	possibly damaging	Het
Ighv1-18	A	G	12: 114,646,298 (GRCm39)	L102P	probably damaging	Het
Itga5	T	A	15: 103,258,653 (GRCm39)	N814I	probably benign	Het
Kcnb2	T	C	1: 15,780,480 (GRCm39)	S451P	probably damaging	Het
Klhl32	T	G	4: 24,709,030 (GRCm39)	I112L	probably damaging	Het
Knstrn	T	G	2: 118,664,575 (GRCm39)	I47R	possibly damaging	Het
Med23	T	A	10: 24,771,722 (GRCm39)	S581T	possibly damaging	Het
Mgat5	C	T	1: 127,318,588 (GRCm39)	T361I	probably damaging	Het
Nipal3	A	G	4: 135,206,858 (GRCm39)	V112A	probably damaging	Het
Or10a5	T	A	7: 106,635,956 (GRCm39)	V198D	possibly damaging	Het
Or2b2	A	G	13: 21,887,243 (GRCm39)	E24G	probably benign	Het
Or4k41	T	C	2: 111,279,697 (GRCm39)	F71L	probably benign	Het
Or5g27	A	G	2: 85,409,825 (GRCm39)	M81V	probably benign	Het
Paxip1	G	A	5: 27,970,766 (GRCm39)	Q528*	probably null	Het
Proser2	T	C	2: 6,118,801 (GRCm39)	D14G	probably damaging	Het
Rp1	T	G	1: 4,415,878 (GRCm39)	I1745L	probably benign	Het
Rxfp2	G	T	5: 149,972,313 (GRCm39)		probably null	Het
Slc45a1	T	C	4: 150,723,051 (GRCm39)	S278G	possibly damaging	Het
Smurf1	A	G	5: 144,823,179 (GRCm39)	I455T	possibly damaging	Het
Speg	T	C	1: 75,407,557 (GRCm39)	L3188P	probably damaging	Het
Tcaf3	G	T	6: 42,574,059 (GRCm39)	A51D	probably damaging	Het
Tecrl	T	C	5: 83,502,768 (GRCm39)	N12S	possibly damaging	Het
Tmem17	T	A	11: 22,468,508 (GRCm39)	I149N	possibly damaging	Het
Tmem171	A	G	13: 98,828,976 (GRCm39)	V58A	possibly damaging	Het
Ttn	A	G	2: 76,691,521 (GRCm39)		probably benign	Het
Ubqln5	A	G	7: 103,777,808 (GRCm39)	S339P	probably benign	Het
Vmn1r16	T	A	6: 57,300,473 (GRCm39)	I50L	probably benign	Het
Vmn2r103	A	T	17: 20,013,739 (GRCm39)	Y177F	probably benign	Het
Zfp28	C	A	7: 6,397,692 (GRCm39)	T709K	probably damaging	Het
Zfp958	A	G	8: 4,676,170 (GRCm39)	N46S	probably benign	Het
Zyx	T	A	6: 42,327,291 (GRCm39)	V30E	unknown	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
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

Predicted Primers

PCR Primer
(F):5'- TGGCAGCATTAACACTTCTGG -3'
(R):5'- GCTTACCTGTGACTTGGAGG -3'

Sequencing Primer
(F):5'- CAGCATTAACACTTCTGGGTTGGC -3'
(R):5'- GGTGCAGAGTACACTTACTGC -3'

Posted On

2018-11-28