Mutagenetix > Incidental Mutation

Incidental Mutation 'R7136:Ccdc47'

553089

Institutional Source

Beutler Lab

Gene Symbol

Ccdc47

Ensembl Gene

ENSMUSG00000078622

Gene Name

coiled-coil domain containing 47

Synonyms

asp4, calumin, 2610204L23Rik

MMRRC Submission

045220-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7136 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106090086-106107349 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106095830 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 289 (S289P)

Ref Sequence

ENSEMBL: ENSMUSP00000002043 (fasta)

Gene Model

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

AlphaFold

Q9D024

Predicted Effect

probably benign
Transcript: ENSMUST00000002043
AA Change: S289P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000002043
Gene: ENSMUSG00000078622
AA Change: S289P

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

SMART Domains

Protein: ENSMUSP00000122736
Gene: ENSMUSG00000078622
AA Change: S35P

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

Coding Region Coverage

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

Validation Efficiency

100% (68/68)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	A	G	5: 138,560,610 (GRCm39)	S262P	probably damaging	Het
Abcc2	A	G	19: 43,825,899 (GRCm39)	E1512G	probably damaging	Het
Abcg2	T	G	6: 58,661,325 (GRCm39)	Y459D	possibly damaging	Het
Amy1	T	C	3: 113,357,248 (GRCm39)	Y197C	probably damaging	Het
Bptf	A	G	11: 106,990,541 (GRCm39)	I516T	probably damaging	Het
Capn12	T	A	7: 28,582,532 (GRCm39)		probably null	Het
Cbln2	T	A	18: 86,734,797 (GRCm39)	L190Q	probably damaging	Het
Ccdc157	C	T	11: 4,098,592 (GRCm39)	E305K	possibly damaging	Het
Chd3	C	T	11: 69,239,264 (GRCm39)	E1756K	probably null	Het
Chrd	G	T	16: 20,553,272 (GRCm39)	A183S	possibly damaging	Het
Cp	C	T	3: 20,039,822 (GRCm39)	R880*	probably null	Het
Cyp24a1	A	T	2: 170,336,063 (GRCm39)	D191E	probably benign	Het
Dnah1	T	C	14: 31,020,613 (GRCm39)	Y1252C	probably damaging	Het
Eps8l1	A	G	7: 4,480,403 (GRCm39)	D487G	probably damaging	Het
Fam227b	T	G	2: 125,965,948 (GRCm39)	Q159P	probably damaging	Het
Fat3	A	G	9: 16,289,481 (GRCm39)	I14T	probably benign	Het
Fbxl19	C	A	7: 127,349,217 (GRCm39)	T129N	possibly damaging	Het
Fuca2	T	C	10: 13,381,665 (GRCm39)	F193L	probably benign	Het
H2-Q1	T	C	17: 35,539,603 (GRCm39)		probably null	Het
Hgh1	A	G	15: 76,254,631 (GRCm39)	M336V	probably benign	Het
Il12b	T	C	11: 44,298,857 (GRCm39)	L104P	probably benign	Het
Kcnh2	A	T	5: 24,537,989 (GRCm39)	F125I	probably benign	Het
Kcnk7	A	G	19: 5,756,104 (GRCm39)	H110R	probably benign	Het
Kdm3a	G	A	6: 71,588,764 (GRCm39)	P415L	probably benign	Het
Kifc3	T	C	8: 95,830,077 (GRCm39)	T610A	probably benign	Het
Krbox5	A	G	13: 67,991,111 (GRCm39)		probably null	Het
Lmbr1l	C	A	15: 98,809,372 (GRCm39)		probably null	Het
Lmo7	T	A	14: 102,157,975 (GRCm39)	M1436K	unknown	Het
Lrp1	C	T	10: 127,394,491 (GRCm39)	C2574Y	probably damaging	Het
Med13l	A	G	5: 118,859,587 (GRCm39)	E258G	possibly damaging	Het
Mesp1	T	C	7: 79,442,906 (GRCm39)	I124V	probably damaging	Het
Mrgpra2a	A	T	7: 47,076,934 (GRCm39)	I108N	probably benign	Het
Nos1	G	T	5: 118,033,925 (GRCm39)	R349L	possibly damaging	Het
Or5k3	C	T	16: 58,969,327 (GRCm39)	T38I	probably damaging	Het
Or7c70	T	C	10: 78,683,615 (GRCm39)	I45V	probably benign	Het
Osgin1	T	A	8: 120,168,176 (GRCm39)	M1K	probably null	Het
Pde4dip	C	T	3: 97,601,379 (GRCm39)	S2346N	probably benign	Het
Pde7a	T	C	3: 19,285,258 (GRCm39)	M310V	probably benign	Het
Pigw	G	A	11: 84,768,585 (GRCm39)	T248M	probably damaging	Het
Pink1	T	C	4: 138,044,769 (GRCm39)	T323A	probably damaging	Het
Polr3a	C	T	14: 24,511,883 (GRCm39)	R891Q	probably damaging	Het
Prkar1b	C	A	5: 139,094,363 (GRCm39)	C75F	probably benign	Het
Prss58	C	T	6: 40,876,987 (GRCm39)		probably null	Het
Ptk2	G	A	15: 73,093,658 (GRCm39)	P854S	possibly damaging	Het
Pttg1ip2	A	T	5: 5,516,631 (GRCm39)	D63E	possibly damaging	Het
Qars1	T	C	9: 108,389,971 (GRCm39)	I350T	probably damaging	Het
Qprt	T	C	7: 126,707,984 (GRCm39)	K149R	probably damaging	Het
Rasgrf1	T	A	9: 89,873,651 (GRCm39)	D653E	probably damaging	Het
Rbm26	T	C	14: 105,381,703 (GRCm39)	M481V	possibly damaging	Het
Rdx	C	T	9: 51,997,745 (GRCm39)	T573M	probably damaging	Het
Rgs14	A	G	13: 55,527,508 (GRCm39)		probably null	Het
Robo2	T	C	16: 73,753,438 (GRCm39)	E813G	probably damaging	Het
Rrbp1	A	T	2: 143,791,600 (GRCm39)	F1369I	probably benign	Het
Sh2d4b	T	A	14: 40,562,209 (GRCm39)	T319S	probably benign	Het
Slc7a15	G	T	12: 8,588,895 (GRCm39)	N217K	probably damaging	Het
Stmn1	A	G	4: 134,198,088 (GRCm39)	K42E	probably damaging	Het
Tbl2	T	G	5: 135,178,682 (GRCm39)	W31G	probably benign	Het
Tmem8b	T	C	4: 43,669,845 (GRCm39)	C114R	possibly damaging	Het
Tsc2	T	C	17: 24,832,254 (GRCm39)	S711G	probably benign	Het
Ttn	T	C	2: 76,666,904 (GRCm39)	R11531G	unknown	Het
Ube2e3	T	C	2: 78,744,085 (GRCm39)	Y105H	probably benign	Het
Usp16	G	T	16: 87,280,059 (GRCm39)	C753F	probably benign	Het
Vmn1r13	T	C	6: 57,187,239 (GRCm39)	S133P	possibly damaging	Het
Vmn2r76	T	A	7: 85,877,975 (GRCm39)	Q474L	probably benign	Het
Vps52	T	C	17: 34,184,262 (GRCm39)	I601T	probably benign	Het
Wasf1	A	T	10: 40,802,587 (GRCm39)	T81S	possibly damaging	Het
Wdr82	A	G	9: 106,048,532 (GRCm39)	S39G	probably benign	Het
Zdhhc13	A	G	7: 48,451,080 (GRCm39)	I108V	probably benign	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
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'- TCAGAGATTATTTGCCTGTTGC -3'
(R):5'- AGGACAGCACAGTTCTGTCTC -3'

Sequencing Primer
(F):5'- GCTTTAGCAAGGGTCAAGTAAAATTC -3'
(R):5'- CAGTCTGGGAAGAACTGT -3'

Posted On

2019-05-15