Mutagenetix > Incidental Mutation

Incidental Mutation 'R5874:Calu'

455380

Institutional Source

Beutler Lab

Gene Symbol

Calu

Ensembl Gene

ENSMUSG00000029767

Gene Name

calumenin

Synonyms

9530075H20Rik

MMRRC Submission

044081-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.536) question?

Stock #

R5874 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29348105-29376674 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29372617 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 112 (D112G)

Ref Sequence

ENSEMBL: ENSMUSP00000134708 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031779] [ENSMUST00000080428] [ENSMUST00000090481] [ENSMUST00000147483] [ENSMUST00000173216] [ENSMUST00000173694] [ENSMUST00000172974] [ENSMUST00000174096]

AlphaFold

O35887

Predicted Effect

probably damaging
Transcript: ENSMUST00000031779
AA Change: D264G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000031779
Gene: ENSMUSG00000029767
AA Change: D264G

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: ENSMUST00000080428

SMART Domains

Protein: ENSMUSP00000079289
Gene: ENSMUSG00000058831

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srv	41	318	4e-9	PFAM
Pfam:7tm_1	49	301	2.5e-43	PFAM
Pfam:7tm_4	188	319	6.2e-8	PFAM
low complexity region	330	343	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000090481
AA Change: D264G

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

SMART Domains

Protein: ENSMUSP00000087967
Gene: ENSMUSG00000029767
AA Change: D264G

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

noncoding transcript
Transcript: ENSMUST00000138523

Predicted Effect

probably benign
Transcript: ENSMUST00000147483

SMART Domains

Protein: ENSMUSP00000133745
Gene: ENSMUSG00000058831

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	40	250	9.2e-7	PFAM
Pfam:7TM_GPCR_Srv	41	254	1.8e-6	PFAM
Pfam:7tm_1	49	271	1.9e-39	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000156163
AA Change: D134G

SMART Domains

Protein: ENSMUSP00000133615
Gene: ENSMUSG00000029767
AA Change: D134G

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

unknown
Transcript: ENSMUST00000172607
AA Change: D22G

SMART Domains

Protein: ENSMUSP00000133609
Gene: ENSMUSG00000029767
AA Change: D22G

Domain	Start	End	E-Value	Type
Blast:EFh	2	20	1e-5	BLAST
SCOP:d2mysb_	2	51	6e-5	SMART
Blast:EFh	28	56	2e-12	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000173216
AA Change: D112G

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

SMART Domains

Protein: ENSMUSP00000134708
Gene: ENSMUSG00000029767
AA Change: D112G

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
AA Change: D103G

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000133436
Gene: ENSMUSG00000029767
AA Change: D103G

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: ENSMUST00000172974

SMART Domains

Protein: ENSMUSP00000133390
Gene: ENSMUSG00000029767

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: 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

Meta Mutation Damage Score

0.3867

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.6%

Validation Efficiency

98% (86/88)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	G	A	7: 29,280,610 (GRCm39)		noncoding transcript	Het
Adam17	T	C	12: 21,379,087 (GRCm39)	D654G	possibly damaging	Het
Ankhd1	A	T	18: 36,773,322 (GRCm39)	H1373L	possibly damaging	Het
Ankrd17	T	C	5: 90,416,656 (GRCm39)		probably benign	Het
Camk2a	G	C	18: 61,076,272 (GRCm39)		probably benign	Het
Cpn1	C	A	19: 43,944,951 (GRCm39)	R452L	probably benign	Het
Csmd3	T	A	15: 47,507,666 (GRCm39)	E2780V	probably damaging	Het
Ctnna2	T	C	6: 76,879,413 (GRCm39)	T824A	probably benign	Het
Cuedc2	C	T	19: 46,319,824 (GRCm39)	V164M	possibly damaging	Het
Cyp2d34	T	A	15: 82,503,243 (GRCm39)	D74V	probably benign	Het
Ddi2	A	G	4: 141,422,780 (GRCm39)	S311P	probably damaging	Het
Ddx10	A	C	9: 53,140,498 (GRCm39)	I301R	possibly damaging	Het
Dmpk	T	C	7: 18,826,007 (GRCm39)		probably benign	Het
Dnah7b	C	T	1: 46,230,885 (GRCm39)	T1381I	probably damaging	Het
Dst	T	A	1: 34,218,670 (GRCm39)	N1703K	probably damaging	Het
Dtwd1	T	A	2: 126,000,359 (GRCm39)	H98Q	probably damaging	Het
Ecel1	A	C	1: 87,075,731 (GRCm39)	V769G	probably benign	Het
Eno4	T	C	19: 58,935,238 (GRCm39)	V150A	probably benign	Het
Evc2	C	T	5: 37,574,883 (GRCm39)		probably benign	Het
Ext1	T	A	15: 52,965,148 (GRCm39)	Q406L	possibly damaging	Het
Foxf2	A	G	13: 31,810,775 (GRCm39)	H238R	probably benign	Het
Frem2	C	G	3: 53,444,910 (GRCm39)	G2407A	probably benign	Het
Fzd10	A	G	5: 128,678,364 (GRCm39)	E28G	probably benign	Het
Galnt15	T	C	14: 31,774,324 (GRCm39)	F363L	probably damaging	Het
Gm1758	C	T	16: 14,325,037 (GRCm39)		noncoding transcript	Het
Gm5866	C	T	5: 52,739,956 (GRCm39)		noncoding transcript	Het
Heatr9	T	A	11: 83,405,426 (GRCm39)	M345L	probably benign	Het
Il23r	A	T	6: 67,408,629 (GRCm39)	F404Y	possibly damaging	Het
Lrrc8a	T	C	2: 30,147,148 (GRCm39)	I654T	probably damaging	Het
Napg	A	T	18: 63,111,091 (GRCm39)	K18*	probably null	Het
Ndst3	A	T	3: 123,355,556 (GRCm39)	W573R	probably damaging	Het
Nin	T	C	12: 70,077,692 (GRCm39)	S1038G	possibly damaging	Het
Nudt12	T	A	17: 59,317,279 (GRCm39)	R123*	probably null	Het
Oas1g	T	A	5: 121,015,081 (GRCm39)	N361Y	probably benign	Het
Or5p51	T	A	7: 107,444,377 (GRCm39)	I188L	probably benign	Het
Or7a35	T	A	10: 78,853,191 (GRCm39)	F12I	possibly damaging	Het
Or8h10	A	T	2: 86,808,786 (GRCm39)	M118K	probably damaging	Het
Osbpl10	T	C	9: 115,055,828 (GRCm39)	F667L	probably damaging	Het
Phldb2	T	C	16: 45,621,988 (GRCm39)	D664G	probably damaging	Het
Piezo2	C	T	18: 63,160,972 (GRCm39)	V2263M	probably damaging	Het
Pkd1l1	A	G	11: 8,858,688 (GRCm39)	L615P	probably damaging	Het
Pnpla7	G	A	2: 24,901,661 (GRCm39)	M562I	probably benign	Het
Pou2af2	A	T	9: 51,201,672 (GRCm39)	L128*	probably null	Het
Ppp1r13b	C	A	12: 111,811,423 (GRCm39)	R155L	probably damaging	Het
Pygb	C	T	2: 150,628,798 (GRCm39)	P4L	probably benign	Het
Rbm44	T	C	1: 91,084,562 (GRCm39)		probably null	Het
Rilpl2	T	C	5: 124,607,876 (GRCm39)	T115A	probably benign	Het
Rin3	A	G	12: 102,356,102 (GRCm39)	Y801C	probably damaging	Het
Rnf112	A	G	11: 61,340,273 (GRCm39)	V619A	probably damaging	Het
Rnf182	A	G	13: 43,821,563 (GRCm39)	E38G	probably benign	Het
Scgb2b24	T	A	7: 33,436,830 (GRCm39)	Y94F	probably damaging	Het
Serac1	C	A	17: 6,094,188 (GRCm39)		probably benign	Het
Shld2	T	C	14: 33,967,215 (GRCm39)	T114A	probably benign	Het
Slc6a19	A	T	13: 73,832,487 (GRCm39)	V402D	probably damaging	Het
Slco1a8	A	T	6: 141,917,961 (GRCm39)	H638Q	probably benign	Het
Slco2b1	T	A	7: 99,316,301 (GRCm39)	M410L	probably benign	Het
Smarca2	T	C	19: 26,753,469 (GRCm39)		probably benign	Het
Sned1	A	G	1: 93,193,067 (GRCm39)	Y409C	probably damaging	Het
Sorcs2	A	G	5: 36,386,555 (GRCm39)	V161A	probably damaging	Het
Spring1	T	C	5: 118,397,504 (GRCm39)	V162A	probably damaging	Het
Sptb	T	C	12: 76,645,501 (GRCm39)	E2029G	possibly damaging	Het
Stx7	T	A	10: 24,058,659 (GRCm39)		probably null	Het
Taf4b	T	C	18: 14,937,611 (GRCm39)	V228A	probably benign	Het
Tbc1d1	A	G	5: 64,507,273 (GRCm39)	*1163W	probably null	Het
Tor4a	G	A	2: 25,084,847 (GRCm39)	A352V	probably damaging	Het
Trpm4	A	G	7: 44,977,173 (GRCm39)	F81S	probably damaging	Het
Ttn	T	A	2: 76,780,436 (GRCm39)	D1105V	probably damaging	Het
Vcf1	T	A	11: 113,568,220 (GRCm39)	R78S	probably damaging	Het
Yju2b	T	A	8: 84,985,177 (GRCm39)	D364V	possibly damaging	Het
Zfp551	A	G	7: 12,150,101 (GRCm39)	L436P	probably damaging	Het
Zfp975	G	T	7: 42,312,312 (GRCm39)	D100E	probably benign	Het
Zswim3	A	G	2: 164,662,032 (GRCm39)	I171V	probably benign	Het
Zwint	C	T	10: 72,492,294 (GRCm39)		probably benign	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
R1487:Calu	UTSW	6	29,366,955 (GRCm39)	missense	probably benign	0.38
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
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'- TTGGACCAAACCTGATTCCTCTG -3'
(R):5'- TGCTACCCGTAGACTTCTGG -3'

Sequencing Primer
(F):5'- AAACCTGATTCCTCTGTTGCGTG -3'
(R):5'- TTAGGTCCTTGCAGACTTACAG -3'

Posted On

2017-02-10