Mutagenetix > Incidental Mutation

Incidental Mutation 'R7340:Ccdc47'

569790

Institutional Source

Beutler Lab

Gene Symbol

Ccdc47

Ensembl Gene

ENSMUSG00000078622

Gene Name

coiled-coil domain containing 47

Synonyms

calumin, asp4, 2610204L23Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7340 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106197408-106216344 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106200973 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 472 (Q472R)

Ref Sequence

ENSEMBL: ENSMUSP00000002043 (fasta)

Gene Model

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

AlphaFold

Q9D024

Predicted Effect

possibly damaging
Transcript: ENSMUST00000002043
AA Change: Q472R

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000002043
Gene: ENSMUSG00000078622
AA Change: Q472R

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: Q156R

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000102478
Gene: ENSMUSG00000078622
AA Change: Q156R

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

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

Meta Mutation Damage Score

0.0751

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (83/84)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	A	G	7: 131,277,615	T1788A	unknown	Het
Abcb11	C	T	2: 69,299,867	D282N	probably damaging	Het
Adam30	A	T	3: 98,162,321	N490I	probably benign	Het
Ankrd55	A	T	13: 112,355,963	I223F	probably damaging	Het
Ano8	T	A	8: 71,483,011	E321V	probably damaging	Het
Apc2	A	G	10: 80,313,482	K1457E	probably benign	Het
Asb15	T	A	6: 24,558,514	V38E	probably benign	Het
Atp4a	T	C	7: 30,716,730	S417P	possibly damaging	Het
AY358078	A	G	14: 51,826,259	N454S	probably damaging	Het
Cables2	A	G	2: 180,261,657	Y245H		Het
Cactin	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	10: 81,321,318		probably benign	Het
Camsap3	G	A	8: 3,587,960		probably null	Het
Ccdc178	A	T	18: 22,017,461	V705E	probably benign	Het
Ccdc62	A	G	5: 123,951,220	D307G	probably damaging	Het
Cd3eap	T	C	7: 19,359,148	T36A	probably benign	Het
Cdh23	A	G	10: 60,530,996	I235T	probably benign	Het
Cep89	G	A	7: 35,429,928	R630H	probably damaging	Het
Cfap65	T	C	1: 74,921,583	N743D	probably benign	Het
Clec16a	A	G	16: 10,580,963	N329S	probably null	Het
Col25a1	A	G	3: 130,546,357		probably null	Het
Daam1	T	G	12: 71,988,939	D969E	probably benign	Het
Dntt	A	C	19: 41,058,565		probably null	Het
Dsel	C	T	1: 111,861,573	G411S	probably damaging	Het
Dst	T	A	1: 34,190,729	Y2468N	probably benign	Het
Exosc9	A	G	3: 36,561,148	T262A	possibly damaging	Het
Exph5	G	A	9: 53,377,009	A1797T	probably damaging	Het
Fbp2	A	T	13: 62,837,247	Y287N	probably damaging	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,609,203		probably benign	Het
Fus	T	A	7: 127,981,951		probably null	Het
Galnt9	T	A	5: 110,614,188	N397K	probably damaging	Het
Gdi1	G	A	X: 74,306,855	R55H	probably benign	Het
Gga1	A	G	15: 78,891,451	T369A	probably benign	Het
Gp1ba	T	C	11: 70,640,293	I295T	unknown	Het
Hk2	T	C	6: 82,728,892	E810G	probably benign	Het
Igsf10	A	G	3: 59,325,768	V1848A	probably damaging	Het
Insrr	G	A	3: 87,814,316		probably null	Het
Ip6k3	T	A	17: 27,148,530	M231L	probably benign	Het
Itgb8	T	C	12: 119,192,204	N171S	probably benign	Het
Ldlrad3	T	C	2: 102,066,839		probably null	Het
Ltbp1	T	A	17: 75,327,228	C886*	probably null	Het
Mettl13	T	C	1: 162,538,978	D444G	probably benign	Het
Mgea5	G	A	19: 45,767,456	Q583*	probably null	Het
Mns1	A	G	9: 72,448,743	Y224C	probably damaging	Het
Mri1	C	T	8: 84,256,896	R122Q	probably benign	Het
Ms4a6d	G	A	19: 11,590,073	Q155*	probably null	Het
Myo5c	A	C	9: 75,289,141	K1290Q	probably benign	Het
Nlrp12	T	G	7: 3,233,125	Q842H	possibly damaging	Het
Odf3b	T	A	15: 89,378,407	T116S	probably benign	Het
Olfr1167	T	C	2: 88,149,276	T248A	possibly damaging	Het
Olfr301	T	C	7: 86,412,749	L129P	possibly damaging	Het
Olfr31	A	T	14: 14,328,401	T97S	possibly damaging	Het
Olfr761	T	A	17: 37,952,522	R167S	probably benign	Het
Otoa	A	G	7: 121,130,065	T554A	probably benign	Het
Per1	A	G	11: 69,103,182	D438G	probably damaging	Het
Phactr3	G	A	2: 178,334,061	R533H	probably damaging	Het
Phykpl	T	C	11: 51,599,543	F417S	probably damaging	Het
Pole	A	T	5: 110,334,464	T2057S	probably benign	Het
Polq	A	G	16: 37,060,926	T1151A	probably benign	Het
Rbm26	A	T	14: 105,152,540	V216E	possibly damaging	Het
Ryk	T	C	9: 102,898,538	I449T	probably damaging	Het
Sap25	A	G	5: 137,642,673	T225A	probably benign	Het
Sart3	A	G	5: 113,744,667	M864T	probably benign	Het
Sec31b	T	C	19: 44,528,722	S280G	probably benign	Het
Sema4d	A	T	13: 51,723,562	I78N	probably damaging	Het
Sgip1	G	C	4: 102,921,464	R419S	unknown	Het
Slc13a3	T	C	2: 165,430,290	I278V	probably benign	Het
Slc2a5	A	G	4: 150,139,982	D312G	probably benign	Het
Slc39a2	A	T	14: 51,894,203	Q77L	possibly damaging	Het
Srbd1	A	T	17: 86,136,354	V148E	probably benign	Het
Syngr2	A	G	11: 117,812,496	E46G	probably damaging	Het
Taok1	A	G	11: 77,579,817	V54A	possibly damaging	Het
Tas2r106	T	A	6: 131,678,222	H222L	probably damaging	Het
Tcaf3	A	G	6: 42,589,914	I747T	probably benign	Het
Tmem151b	G	T	17: 45,545,269	P415Q	probably benign	Het
Tmf1	T	C	6: 97,168,100	D659G	possibly damaging	Het
Tnn	G	T	1: 160,146,022	D258E	probably damaging	Het
Traj33	A	G	14: 54,185,405	I16V	unknown	Het
Ttll13	G	T	7: 80,257,024	C480F	probably damaging	Het
Ttn	T	C	2: 76,884,071	N8137S	unknown	Het
Vmn1r85	T	C	7: 13,085,146	N24D	probably damaging	Het
Wdr81	T	C	11: 75,444,699	Q649R	probably null	Het
Zan	T	C	5: 137,383,830	T5152A	unknown	Het
Zc3h6	A	G	2: 128,993,190	D82G	possibly damaging	Het

Other mutations in Ccdc47

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00952:Ccdc47	APN	11	106203532	splice site	probably null
IGL01890:Ccdc47	APN	11	106205451	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TAACCTCTGTAGAACTCTAAACCG -3'
(R):5'- TCTAGCACTGCCACTCTCAA -3'

Sequencing Primer
(F):5'- CGAGAGGAGAGGGTGAGATAAAGATC -3'
(R):5'- AGATGCATCAGATCCCTTGG -3'

Posted On

2019-09-13