Mutagenetix > Incidental Mutation

Incidental Mutation 'R3953:Micu1'

308061

Institutional Source

Beutler Lab

Gene Symbol

Micu1

Ensembl Gene

ENSMUSG00000020111

Gene Name

mitochondrial calcium uptake 1

Synonyms

C730016L05Rik, Cbara1

MMRRC Submission

040830-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.702) question?

Stock #

R3953 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59538385-59699956 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 59586326 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 134 (H134L)

Ref Sequence

ENSEMBL: ENSMUSP00000131000 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020311] [ENSMUST00000092508] [ENSMUST00000165563] [ENSMUST00000167612] [ENSMUST00000171409] [ENSMUST00000179709]

AlphaFold

Q8VCX5

Predicted Effect

probably benign
Transcript: ENSMUST00000020311
AA Change: H167L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000020311
Gene: ENSMUSG00000020111
AA Change: H167L

Domain	Start	End	E-Value	Type
low complexity region	89	94	N/A	INTRINSIC
EFh	230	258	8.16e-1	SMART
EFh	420	448	4.12e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000092508
AA Change: H167L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000090166
Gene: ENSMUSG00000020111
AA Change: H167L

Domain	Start	End	E-Value	Type
low complexity region	89	94	N/A	INTRINSIC
EFh	228	256	8.16e-1	SMART
EFh	418	446	4.12e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165405

Predicted Effect

probably benign
Transcript: ENSMUST00000165563
AA Change: H167L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000126597
Gene: ENSMUSG00000020111
AA Change: H167L

Domain	Start	End	E-Value	Type
low complexity region	89	94	N/A	INTRINSIC
EFh	224	252	8.16e-1	SMART
EFh	414	442	4.12e-3	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000167612
AA Change: H17L

SMART Domains

Protein: ENSMUSP00000126822
Gene: ENSMUSG00000020111
AA Change: H17L

Domain	Start	End	E-Value	Type
PDB:4NSD\|B	1	35	2e-16	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000171409
AA Change: H134L

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

SMART Domains

Protein: ENSMUSP00000131000
Gene: ENSMUSG00000020111
AA Change: H134L

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	56	61	N/A	INTRINSIC
Pfam:EF-hand_6	191	221	1.8e-6	PFAM
Pfam:EF-hand_5	192	216	5.9e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000179709
AA Change: H167L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000136567
Gene: ENSMUSG00000020111
AA Change: H167L

Domain	Start	End	E-Value	Type
low complexity region	89	94	N/A	INTRINSIC
EFh	224	252	8.16e-1	SMART
EFh	414	442	4.12e-3	SMART

Meta Mutation Damage Score

0.1377

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (61/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an essential regulator of mitochondrial Ca2+ uptake under basal conditions. The encoded protein interacts with the mitochondrial calcium uniporter, a mitochondrial inner membrane Ca2+ channel, and is essential in preventing mitochondrial Ca2+ overload, which can cause excessive production of reactive oxygen species and cell stress. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2013]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam2	G	A	14: 66,295,059 (GRCm39)	S262L	probably damaging	Het
Adgrf1	A	G	17: 43,621,098 (GRCm39)	N445S	probably benign	Het
Aldh7a1	C	A	18: 56,681,577 (GRCm39)	V198L	probably damaging	Het
Ank2	A	T	3: 126,781,809 (GRCm39)	D6E	probably damaging	Het
Arhgap31	A	G	16: 38,423,826 (GRCm39)	F747L	probably benign	Het
B4galt3	C	A	1: 171,101,613 (GRCm39)	H196N	probably damaging	Het
Cadps	T	C	14: 12,505,937 (GRCm38)	D711G	probably damaging	Het
Clspn	ACGGCGGCGGC	A	4: 126,460,230 (GRCm39)		probably null	Het
Cpsf3	A	G	12: 21,363,806 (GRCm39)	D632G	probably benign	Het
Cyp4f18	C	T	8: 72,754,801 (GRCm39)	R148H	probably damaging	Het
Dennd4a	C	A	9: 64,759,857 (GRCm39)	P321T	probably damaging	Het
Dennd5a	A	G	7: 109,504,906 (GRCm39)	M868T	probably benign	Het
Dipk1b	C	T	2: 26,525,579 (GRCm39)	P171L	probably benign	Het
Dnah2	G	A	11: 69,344,929 (GRCm39)	T2715M	probably damaging	Het
Evc2	T	C	5: 37,537,931 (GRCm39)		probably null	Het
Fkbp8	T	G	8: 70,987,517 (GRCm39)	S376A	probably damaging	Het
Gucy1a2	T	C	9: 3,582,704 (GRCm39)		probably benign	Het
Gys1	C	T	7: 45,089,470 (GRCm39)	P274S	probably damaging	Het
Hbq1a	T	C	11: 32,250,214 (GRCm39)		probably null	Het
Herc1	C	T	9: 66,341,075 (GRCm39)	Q1731*	probably null	Het
Igfn1	A	G	1: 135,894,918 (GRCm39)	Y1883H	possibly damaging	Het
Lmf1	G	A	17: 25,873,445 (GRCm39)	V317M	probably damaging	Het
Lnx1	T	C	5: 74,766,750 (GRCm39)	T455A	probably benign	Het
Mast2	A	T	4: 116,170,926 (GRCm39)	H612Q	probably damaging	Het
Mcm9	G	A	10: 53,439,440 (GRCm39)	H578Y	probably damaging	Het
Mefv	A	G	16: 3,533,264 (GRCm39)	S336P	possibly damaging	Het
Mrgprb2	C	T	7: 48,202,116 (GRCm39)	G203D	possibly damaging	Het
Ncapd2	T	C	6: 125,147,697 (GRCm39)	I1179V	probably damaging	Het
Nek7	C	A	1: 138,462,127 (GRCm39)	C79F	probably damaging	Het
Nup210l	A	T	3: 90,100,361 (GRCm39)	R1462S	possibly damaging	Het
Or14j6	A	T	17: 38,214,500 (GRCm39)	H21L	probably benign	Het
Or51f1	A	G	7: 102,505,824 (GRCm39)	C222R	probably damaging	Het
Or5al1	A	G	2: 85,990,282 (GRCm39)	V144A	probably benign	Het
Or5b119	G	A	19: 13,456,806 (GRCm39)	S252L	probably benign	Het
Pcnx3	A	G	19: 5,733,808 (GRCm39)		probably benign	Het
Pi4ka	A	G	16: 17,103,145 (GRCm39)		probably benign	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
Ptprb	A	G	10: 116,177,399 (GRCm39)	N1320S	probably benign	Het
Ralgapa2	C	T	2: 146,277,884 (GRCm39)	V426I	probably damaging	Het
Rhobtb2	T	C	14: 70,031,488 (GRCm39)	T546A	possibly damaging	Het
Robo1	A	G	16: 72,821,226 (GRCm39)	D1331G	probably damaging	Het
Sgcz	A	G	8: 37,993,346 (GRCm39)		probably benign	Het
Slc26a1	T	C	5: 108,821,448 (GRCm39)	D147G	possibly damaging	Het
Slc44a5	A	G	3: 153,877,209 (GRCm39)	D13G	probably benign	Het
Slco1a1	A	T	6: 141,868,833 (GRCm39)	M377K	probably damaging	Het
St18	T	A	1: 6,873,117 (GRCm39)	L284Q	probably damaging	Het
Tbc1d9	C	T	8: 83,960,161 (GRCm39)	T138I	probably damaging	Het
Tec	T	C	5: 72,939,520 (GRCm39)		probably null	Het
Tln2	G	A	9: 67,277,911 (GRCm39)	P368S	probably damaging	Het
Tmem131l	C	A	3: 83,817,726 (GRCm39)	C1257F	probably damaging	Het
Tmf1	C	A	6: 97,153,167 (GRCm39)	R302L	probably damaging	Het
Tnip3	A	T	6: 65,574,379 (GRCm39)	T137S	possibly damaging	Het
Trim30d	C	T	7: 104,121,728 (GRCm39)	G339D	probably damaging	Het
Tspan32	T	A	7: 142,560,735 (GRCm39)	M61K	probably damaging	Het
Ttc6	T	C	12: 57,744,238 (GRCm39)	V1290A	probably benign	Het
Ttn	A	G	2: 76,799,593 (GRCm39)	V429A	possibly damaging	Het
Vmn2r95	T	A	17: 18,660,358 (GRCm39)	Y257N	possibly damaging	Het
Vps13d	A	G	4: 144,875,450 (GRCm39)	S1686P	probably damaging	Het
Wdr41	A	G	13: 95,133,571 (GRCm39)	E75G	probably damaging	Het

Other mutations in Micu1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01982:Micu1	APN	10	59,699,100 (GRCm39)	missense	possibly damaging	0.55
IGL02643:Micu1	APN	10	59,675,558 (GRCm39)	missense	probably damaging	1.00
IGL03183:Micu1	APN	10	59,563,870 (GRCm39)	nonsense	probably null
R0025:Micu1	UTSW	10	59,624,699 (GRCm39)	critical splice acceptor site	probably null
R0645:Micu1	UTSW	10	59,675,503 (GRCm39)	missense	possibly damaging	0.95
R0988:Micu1	UTSW	10	59,592,549 (GRCm39)	intron	probably benign
R1121:Micu1	UTSW	10	59,624,804 (GRCm39)	missense	possibly damaging	0.50
R1334:Micu1	UTSW	10	59,624,798 (GRCm39)	missense	probably damaging	1.00
R1762:Micu1	UTSW	10	59,699,082 (GRCm39)	missense	possibly damaging	0.70
R1925:Micu1	UTSW	10	59,568,983 (GRCm39)	splice site	probably benign
R1976:Micu1	UTSW	10	59,604,035 (GRCm39)	missense	probably damaging	1.00
R2082:Micu1	UTSW	10	59,699,129 (GRCm39)	missense	probably benign	0.00
R2152:Micu1	UTSW	10	59,699,110 (GRCm39)	missense	probably benign	0.01
R2395:Micu1	UTSW	10	59,699,024 (GRCm39)	nonsense	probably null
R3619:Micu1	UTSW	10	59,604,080 (GRCm39)	splice site	probably null
R4809:Micu1	UTSW	10	59,576,644 (GRCm39)	missense	probably benign
R4948:Micu1	UTSW	10	59,699,076 (GRCm39)	missense	possibly damaging	0.56
R5103:Micu1	UTSW	10	59,624,806 (GRCm39)	missense	possibly damaging	0.79
R5137:Micu1	UTSW	10	59,663,054 (GRCm39)	missense	probably benign	0.20
R5431:Micu1	UTSW	10	59,586,343 (GRCm39)	missense	possibly damaging	0.92
R5805:Micu1	UTSW	10	59,663,128 (GRCm39)	missense	possibly damaging	0.46
R6910:Micu1	UTSW	10	59,576,489 (GRCm39)	missense	probably damaging	1.00
R7030:Micu1	UTSW	10	59,624,843 (GRCm39)	missense	possibly damaging	0.92
R7845:Micu1	UTSW	10	59,675,607 (GRCm39)	critical splice donor site	probably null
R9124:Micu1	UTSW	10	59,586,335 (GRCm39)	missense	probably damaging	1.00
R9255:Micu1	UTSW	10	59,604,051 (GRCm39)	missense	probably damaging	1.00
R9736:Micu1	UTSW	10	59,699,123 (GRCm39)	nonsense	probably null
Z1177:Micu1	UTSW	10	59,563,863 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTGTCTGCCAGCATTTGTAC -3'
(R):5'- AACCCTGGCTTGATTTCCTG -3'

Sequencing Primer
(F):5'- GCCAGCATTTGTACTTTAAGTCTG -3'
(R):5'- CTGAAGATGCAGGCCTCTGAAC -3'

Posted On

2015-04-17