Mutagenetix > Incidental Mutation

Incidental Mutation 'R1487:Calu'

163514

Institutional Source

Beutler Lab

Gene Symbol

Calu

Ensembl Gene

ENSMUSG00000029767

Gene Name

calumenin

Synonyms

9530075H20Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.536) question?

Stock #

R1487 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

29348105-29376674 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29366955 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 208 (I208V)

Ref Sequence

ENSEMBL: ENSMUSP00000087967 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031779] [ENSMUST00000090481] [ENSMUST00000172974] [ENSMUST00000173216] [ENSMUST00000173694] [ENSMUST00000174096]

AlphaFold

O35887

Predicted Effect

probably benign
Transcript: ENSMUST00000031779
AA Change: I208V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000031779
Gene: ENSMUSG00000029767
AA Change: I208V

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
EFh	72	100	1.1e1	SMART
Blast:EFh	108	136	3e-11	BLAST
EFh	155	183	9.61e1	SMART
EFh	192	220	2.03e-2	SMART
Blast:EFh	233	261	2e-10	BLAST
EFh	269	297	5.75e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000090481
AA Change: I208V

PolyPhen 2 Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000087967
Gene: ENSMUSG00000029767
AA Change: I208V

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
EFh	72	100	1.82e0	SMART
EFh	108	136	2.44e1	SMART
EFh	155	183	9.61e1	SMART
EFh	192	220	2.03e-2	SMART
Blast:EFh	233	261	2e-10	BLAST
EFh	269	297	5.75e1	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000156163
AA Change: I78V

SMART Domains

Protein: ENSMUSP00000133615
Gene: ENSMUSG00000029767
AA Change: I78V

Domain	Start	End	E-Value	Type
EFh	26	54	9.61e1	SMART
EFh	63	91	2.03e-2	SMART
Blast:EFh	104	132	3e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000172974
AA Change: I208V

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000133390
Gene: ENSMUSG00000029767
AA Change: I208V

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
EFh	72	100	1.1e1	SMART
Blast:EFh	108	136	1e-11	BLAST
EFh	155	183	9.61e1	SMART
EFh	192	220	1.41e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173216
AA Change: I56V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000134708
Gene: ENSMUSG00000029767
AA Change: I56V

Domain	Start	End	E-Value	Type
EFh	3	31	9.61e1	SMART
EFh	40	68	2.03e-2	SMART
Blast:EFh	81	109	2e-11	BLAST
EFh	117	145	5.75e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173694

SMART Domains

Protein: ENSMUSP00000133436
Gene: ENSMUSG00000029767

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
EFh	72	100	5.38e0	SMART
EFh	108	136	5.75e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174096

SMART Domains

Protein: ENSMUSP00000133945
Gene: ENSMUSG00000029767

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:EF-hand_7	43	97	5.3e-8	PFAM
Pfam:EF-hand_6	72	101	6.5e-5	PFAM
Pfam:EF-hand_7	72	133	5e-12	PFAM
Pfam:EF-hand_5	73	98	4.5e-5	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.4%
20x: 92.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a calcium-binding protein localized in the endoplasmic reticulum (ER) and it is involved in such ER functions as protein folding and sorting. This protein belongs to a family of multiple EF-hand proteins (CERC) that include reticulocalbin, ERC-55, and Cab45 and the product of this gene. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	A	C	6: 146,854,877 (GRCm39)	V55G	probably benign	Het
Abhd13	A	G	8: 10,037,402 (GRCm39)		probably benign	Het
Arid5b	T	A	10: 67,933,044 (GRCm39)	K953*	probably null	Het
Armh3	A	C	19: 45,928,882 (GRCm39)		probably null	Het
B4galt6	A	G	18: 20,839,571 (GRCm39)	V121A	possibly damaging	Het
C1qtnf12	G	A	4: 156,050,331 (GRCm39)	E223K	probably damaging	Het
Cd14	T	C	18: 36,858,537 (GRCm39)	N306S	probably benign	Het
Cdc16	T	A	8: 13,821,445 (GRCm39)	N415K	probably benign	Het
Cfap57	C	A	4: 118,471,978 (GRCm39)	V134F	probably benign	Het
Chrna2	C	T	14: 66,380,812 (GRCm39)	A27V	probably benign	Het
Chtf18	T	C	17: 25,939,583 (GRCm39)	K67R	probably benign	Het
Clock	T	C	5: 76,414,201 (GRCm39)		probably null	Het
Cplane1	C	T	15: 8,215,715 (GRCm39)	R424W	probably damaging	Het
Eif4g1	G	A	16: 20,497,623 (GRCm39)		probably benign	Het
Eps8l2	A	T	7: 140,941,531 (GRCm39)	M601L	probably benign	Het
Fat4	A	G	3: 39,050,066 (GRCm39)	E3976G	possibly damaging	Het
Flrt3	T	A	2: 140,502,854 (GRCm39)	H258L	probably damaging	Het
Flt4	C	A	11: 49,523,971 (GRCm39)	T517K	possibly damaging	Het
Galnt7	T	C	8: 57,993,073 (GRCm39)	N416S	probably damaging	Het
Gipc1	C	T	8: 84,387,808 (GRCm39)	Q63*	probably null	Het
Gm17079	A	T	14: 51,930,542 (GRCm39)		probably null	Het
Gucy2c	T	A	6: 136,725,824 (GRCm39)	I375F	possibly damaging	Het
Hps4	C	T	5: 112,525,865 (GRCm39)	Q629*	probably null	Het
Hunk	A	G	16: 90,183,525 (GRCm39)	Y61C	probably damaging	Het
Itga6	T	C	2: 71,673,584 (GRCm39)	S873P	possibly damaging	Het
Kcnc1	A	G	7: 46,047,298 (GRCm39)	H66R	possibly damaging	Het
Kcnc1	T	C	7: 46,084,772 (GRCm39)		probably null	Het
Khdc3	A	G	9: 73,009,846 (GRCm39)	T19A	probably benign	Het
Kmt2a	T	C	9: 44,745,287 (GRCm39)		probably benign	Het
Lipe	C	T	7: 25,084,240 (GRCm39)	A615T	possibly damaging	Het
Lrguk	A	T	6: 34,039,295 (GRCm39)	M269L	probably benign	Het
Lrrc18	A	G	14: 32,730,640 (GRCm39)	N60D	probably damaging	Het
Magi1	T	C	6: 93,685,060 (GRCm39)	T773A	probably benign	Het
Map3k14	T	A	11: 103,116,163 (GRCm39)	D755V	possibly damaging	Het
Mecom	T	C	3: 30,034,213 (GRCm39)	T488A	probably damaging	Het
Mmp10	T	G	9: 7,509,978 (GRCm39)	W473G	probably damaging	Het
Mrgpra2a	C	T	7: 47,076,434 (GRCm39)	V275I	probably benign	Het
Myo7a	A	C	7: 97,703,017 (GRCm39)		probably null	Het
Nadsyn1	C	T	7: 143,360,662 (GRCm39)	V369I	probably benign	Het
Nptxr	C	A	15: 79,674,104 (GRCm39)	G424V	probably damaging	Het
Nrg2	C	T	18: 36,185,965 (GRCm39)	G258E	possibly damaging	Het
Nup210	G	A	6: 91,019,558 (GRCm39)	P221S	probably damaging	Het
Odad2	A	T	18: 7,273,245 (GRCm39)	Y282N	probably damaging	Het
Or52a33	T	A	7: 103,288,801 (GRCm39)	H182L	probably damaging	Het
Or6c208	T	C	10: 129,224,209 (GRCm39)	F236L	probably benign	Het
Oxct1	A	G	15: 4,177,057 (GRCm39)	D477G	possibly damaging	Het
Pcdh8	G	T	14: 80,006,987 (GRCm39)	D525E	probably damaging	Het
Phldb2	A	G	16: 45,609,387 (GRCm39)	S740P	probably damaging	Het
Prss54	A	G	8: 96,286,276 (GRCm39)	S266P	probably benign	Het
Ptprh	T	A	7: 4,555,737 (GRCm39)	I741F	probably damaging	Het
Rab11fip1	G	T	8: 27,644,240 (GRCm39)	S515Y	probably damaging	Het
Recql4	T	A	15: 76,593,183 (GRCm39)	N309I	probably benign	Het
Sec24a	T	C	11: 51,622,713 (GRCm39)	T388A	possibly damaging	Het
Setd6	T	A	8: 96,444,556 (GRCm39)	L83H	probably damaging	Het
Slc6a12	G	A	6: 121,340,716 (GRCm39)	W534*	probably null	Het
St14	C	T	9: 31,008,476 (GRCm39)	C488Y	probably damaging	Het
Supt16	A	G	14: 52,414,065 (GRCm39)		probably null	Het
Tanc2	A	G	11: 105,814,460 (GRCm39)	Y1968C	probably damaging	Het
Tcaim	T	A	9: 122,647,897 (GRCm39)	Y137*	probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tpm3	A	T	3: 89,997,389 (GRCm39)		probably null	Het
Trip12	A	T	1: 84,746,352 (GRCm39)	N475K	probably damaging	Het
Twnk	G	T	19: 44,996,815 (GRCm39)		probably null	Het
Zfp287	T	C	11: 62,616,115 (GRCm39)	K192R	probably damaging	Het
Zfp799	G	T	17: 33,039,651 (GRCm39)	T204N	possibly damaging	Het

Other mutations in Calu

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01142:Calu	APN	6	29,366,207 (GRCm39)	critical splice donor site	probably null
IGL01432:Calu	APN	6	29,356,552 (GRCm39)	missense	possibly damaging	0.92
IGL02926:Calu	APN	6	29,366,919 (GRCm39)	missense	possibly damaging	0.74
IGL02966:Calu	APN	6	29,356,584 (GRCm39)	nonsense	probably null
IGL03069:Calu	APN	6	29,356,582 (GRCm39)	missense	possibly damaging	0.50
R0320:Calu	UTSW	6	29,374,550 (GRCm39)	utr 3 prime	probably benign
R1080:Calu	UTSW	6	29,366,919 (GRCm39)	missense	possibly damaging	0.74
R1560:Calu	UTSW	6	29,361,657 (GRCm39)	missense	probably benign	0.00
R1993:Calu	UTSW	6	29,366,974 (GRCm39)	missense	possibly damaging	0.88
R2074:Calu	UTSW	6	29,372,614 (GRCm39)	missense	probably damaging	1.00
R3944:Calu	UTSW	6	29,361,710 (GRCm39)	missense	possibly damaging	0.89
R5024:Calu	UTSW	6	29,374,518 (GRCm39)	utr 3 prime	probably benign
R5874:Calu	UTSW	6	29,372,617 (GRCm39)	missense	probably damaging	1.00
R7297:Calu	UTSW	6	29,356,554 (GRCm39)	nonsense	probably null
R7675:Calu	UTSW	6	29,356,516 (GRCm39)	missense	probably benign
R9070:Calu	UTSW	6	29,356,567 (GRCm39)	missense	probably benign
R9484:Calu	UTSW	6	29,366,162 (GRCm39)	missense	probably damaging	1.00
Z1177:Calu	UTSW	6	29,372,514 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCTTGGGAATGAACACTGGTCCTC -3'
(R):5'- GCCACATCAGTCTGTCTGAACCATC -3'

Sequencing Primer
(F):5'- CTTTgaacctcctgtctctgacc -3'
(R):5'- acacacctttaatcccagcac -3'

Posted On

2014-03-28