Mutagenetix > Incidental Mutation

Incidental Mutation 'R9484:Calu'

716436

Institutional Source

Beutler Lab

Gene Symbol

Calu

Ensembl Gene

ENSMUSG00000029767

Gene Name

calumenin

Synonyms

9530075H20Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.536) question?

Stock #

R9484 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29348105-29376674 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 29366162 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 180 (L180Q)

Ref Sequence

ENSEMBL: ENSMUSP00000031779 (fasta)

Gene Model

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

AlphaFold

O35887

Predicted Effect

probably damaging
Transcript: ENSMUST00000031779
AA Change: L180Q

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

SMART Domains

Protein: ENSMUSP00000031779
Gene: ENSMUSG00000029767
AA Change: L180Q

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 damaging
Transcript: ENSMUST00000090481
AA Change: L180Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000087967
Gene: ENSMUSG00000029767
AA Change: L180Q

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

SMART Domains

Protein: ENSMUSP00000133615
Gene: ENSMUSG00000029767
AA Change: L50Q

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 damaging
Transcript: ENSMUST00000172974
AA Change: L180Q

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

SMART Domains

Protein: ENSMUSP00000133390
Gene: ENSMUSG00000029767
AA Change: L180Q

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 damaging
Transcript: ENSMUST00000173216
AA Change: L28Q

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

SMART Domains

Protein: ENSMUSP00000134708
Gene: ENSMUSG00000029767
AA Change: L28Q

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: 99.9%
3x: 99.8%
10x: 99.2%
20x: 97.1%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acads	A	T	5: 115,250,845 (GRCm39)	C151S	probably damaging	Het
Actr8	T	C	14: 29,708,301 (GRCm39)	I193T	probably benign	Het
Btbd2	T	C	10: 80,480,103 (GRCm39)	N419S	probably benign	Het
Cacna2d1	T	A	5: 16,561,831 (GRCm39)	W821R	probably damaging	Het
Cadps2	T	C	6: 23,626,646 (GRCm39)	Y214C	probably benign	Het
Corin	C	T	5: 72,497,280 (GRCm39)	V615I	probably damaging	Het
Cyp8b1	A	T	9: 121,744,983 (GRCm39)	D116E	probably benign	Het
D630036H23Rik	C	A	12: 36,431,711 (GRCm39)	A96S	unknown	Het
Ddx24	A	T	12: 103,377,555 (GRCm39)	Y717N	probably damaging	Het
Dmap1	G	T	4: 117,533,308 (GRCm39)	Q249K	probably benign	Het
Dnah10	T	A	5: 124,900,508 (GRCm39)	W3922R	probably damaging	Het
Dnah14	T	C	1: 181,517,773 (GRCm39)	F2036L	probably benign	Het
Dnah14	T	C	1: 181,625,311 (GRCm39)	I4064T	probably benign	Het
Dock9	A	C	14: 121,818,844 (GRCm39)	V1546G	probably damaging	Het
Eif1ad4	A	T	12: 87,862,249 (GRCm39)	Q37L	possibly damaging	Het
Eif3a	A	T	19: 60,755,006 (GRCm39)	S1059T	unknown	Het
Ep300	A	G	15: 81,521,026 (GRCm39)	E1262G	unknown	Het
Evl	T	A	12: 108,652,716 (GRCm39)	I387N	probably damaging	Het
Fat2	A	C	11: 55,200,752 (GRCm39)	V774G	probably damaging	Het
Fez1	T	A	9: 36,755,093 (GRCm39)	Y31N	probably benign	Het
Fkbp10	A	G	11: 100,313,960 (GRCm39)	I435V	probably damaging	Het
Flnb	A	G	14: 7,929,004 (GRCm38)	D1911G	probably benign	Het
Fnbp1	T	C	2: 30,973,038 (GRCm39)	Y154C	probably benign	Het
Fndc10	T	C	4: 155,779,496 (GRCm39)	I180T	possibly damaging	Het
Frmd4a	G	A	2: 4,609,026 (GRCm39)	V965I	possibly damaging	Het
Gabrr2	A	G	4: 33,071,352 (GRCm39)	H64R	possibly damaging	Het
Glis3	T	C	19: 28,508,403 (GRCm39)	D527G	probably damaging	Het
H2-Ob	T	A	17: 34,459,989 (GRCm39)	F33L	probably damaging	Het
Hbb-bh1	C	T	7: 103,492,239 (GRCm39)	E27K	probably benign	Het
Ifnb1	T	A	4: 88,440,915 (GRCm39)	T33S	probably benign	Het
Igkv4-80	T	A	6: 68,993,766 (GRCm39)	T42S	probably damaging	Het
Irs2	C	T	8: 11,057,334 (GRCm39)	G366D	probably damaging	Het
Kcnk2	CAAA	CAA	1: 188,988,891 (GRCm39)		probably null	Het
Krtap5-3	T	A	7: 141,756,068 (GRCm39)	C302S	unknown	Het
Lgi1	A	G	19: 38,294,757 (GRCm39)	K510E	probably benign	Het
Lgi2	T	A	5: 52,695,936 (GRCm39)	D341V	probably benign	Het
Lin7c	T	C	2: 109,724,813 (GRCm39)	I14T	probably benign	Het
Lrrc19	A	T	4: 94,531,573 (GRCm39)	M13K	probably benign	Het
Lrrc69	T	C	4: 14,666,012 (GRCm39)	I315M	probably benign	Het
Mtcl3	G	A	10: 29,072,969 (GRCm39)	D754N	probably damaging	Het
Myo5c	A	T	9: 75,204,770 (GRCm39)	D1541V	probably damaging	Het
Mypn	T	G	10: 63,003,019 (GRCm39)	M373L	probably benign	Het
Nckipsd	C	A	9: 108,689,837 (GRCm39)	H333N	probably damaging	Het
Nrg2	A	T	18: 36,157,401 (GRCm39)	L428Q	probably null	Het
Or13a20	T	C	7: 140,231,904 (GRCm39)	L4S	probably benign	Het
Or2b28	C	A	13: 21,531,587 (GRCm39)	T163K	probably damaging	Het
Or5an11	T	C	19: 12,245,735 (GRCm39)	I47T	possibly damaging	Het
Otogl	T	A	10: 107,657,894 (GRCm39)		probably null	Het
Otogl	C	T	10: 107,737,156 (GRCm39)	G86D	probably damaging	Het
Papln	A	T	12: 83,838,618 (GRCm39)	Q1249L	probably benign	Het
Plxna2	G	T	1: 194,327,202 (GRCm39)	G379C	probably damaging	Het
Pofut2	T	C	10: 77,095,260 (GRCm39)	I35T	probably benign	Het
Pros1	A	G	16: 62,744,887 (GRCm39)	T501A	possibly damaging	Het
Rapgef1	T	C	2: 29,625,821 (GRCm39)	S1042P	possibly damaging	Het
Rps6kb1	C	T	11: 86,408,443 (GRCm39)	E185K	probably damaging	Het
Slc13a2	A	T	11: 78,294,233 (GRCm39)	L216Q	probably damaging	Het
Slc22a14	T	C	9: 119,009,615 (GRCm39)	Y160C	probably damaging	Het
Slc22a4	T	A	11: 53,879,773 (GRCm39)	I429F	possibly damaging	Het
Slc26a3	A	G	12: 31,511,785 (GRCm39)	K457E	probably damaging	Het
Slc47a2	T	C	11: 61,227,060 (GRCm39)	I169M	possibly damaging	Het
Slco1a1	C	T	6: 141,854,672 (GRCm39)	V660I	probably benign	Het
Smyd1	A	G	6: 71,202,450 (GRCm39)	Y252H	probably damaging	Het
Spp2	A	T	1: 88,334,695 (GRCm39)		probably benign	Het
Stra8	T	A	6: 34,911,121 (GRCm39)	W250R	probably damaging	Het
Syne1	A	C	10: 5,170,359 (GRCm39)	L5183R	probably damaging	Het
Tdrd9	T	C	12: 112,012,684 (GRCm39)	S1203P	probably damaging	Het
Th	C	A	7: 142,453,620 (GRCm39)	E27*	probably null	Het
Thada	C	A	17: 84,736,619 (GRCm39)	L887F	probably damaging	Het
Timm23	T	C	14: 31,902,586 (GRCm39)	T186A	probably benign	Het
Tmem132b	A	T	5: 125,860,420 (GRCm39)	E555V	probably damaging	Het
Tnik	A	T	3: 28,649,093 (GRCm39)	Q457L	unknown	Het
Uba7	C	A	9: 107,861,037 (GRCm39)	H942Q	probably benign	Het
Upf2	T	C	2: 5,966,078 (GRCm39)	S233P	unknown	Het
Urm1	T	A	2: 29,732,760 (GRCm39)	N72K	probably damaging	Het
Usp10	T	C	8: 120,675,504 (GRCm39)	S508P	possibly damaging	Het
Usp37	G	A	1: 74,499,081 (GRCm39)	P632S	probably damaging	Het
Wdr77	T	A	3: 105,872,404 (GRCm39)	N209K	probably benign	Het
Zbtb24	C	T	10: 41,327,429 (GRCm39)	T105M	probably benign	Het
Zfp341	T	A	2: 154,485,763 (GRCm39)	I671N	probably damaging	Het
Zfp414	A	G	17: 33,848,984 (GRCm39)	T73A	probably benign	Het
Zfp574	A	T	7: 24,781,404 (GRCm39)	I809F	possibly damaging	Het
Zfp62	T	C	11: 49,108,108 (GRCm39)	I733T	probably damaging	Het
Zfp719	A	G	7: 43,239,581 (GRCm39)	I390V	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
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
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
Z1177:Calu	UTSW	6	29,372,514 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCTTGGTTTAACTTCACCTGG -3'
(R):5'- TCCTTAGCTTCAGTGTGCGG -3'

Sequencing Primer
(F):5'- GTGAGATCTGCCTGTTCCC -3'
(R):5'- TTCAGTGTGCGGCCACTG -3'

Posted On

2022-07-18