Mutagenetix > Incidental Mutation

Incidental Mutation 'R1925:Micu1'

213362

Institutional Source

Beutler Lab

Gene Symbol

Micu1

Ensembl Gene

ENSMUSG00000020111

Gene Name

mitochondrial calcium uptake 1

Synonyms

C730016L05Rik, Cbara1

MMRRC Submission

039943-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.775) question?

Stock #

R1925 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59538385-59699956 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 59568983 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136567 (fasta)

Gene Model

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

AlphaFold

Q8VCX5

Predicted Effect

probably benign
Transcript: ENSMUST00000020311

SMART Domains

Protein: ENSMUSP00000020311
Gene: ENSMUSG00000020111

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

SMART Domains

Protein: ENSMUSP00000090166
Gene: ENSMUSG00000020111

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

SMART Domains

Protein: ENSMUSP00000126597
Gene: ENSMUSG00000020111

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

noncoding transcript
Transcript: ENSMUST00000167872

Predicted Effect

probably benign
Transcript: ENSMUST00000171409

SMART Domains

Protein: ENSMUSP00000131000
Gene: ENSMUSG00000020111

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

SMART Domains

Protein: ENSMUSP00000136567
Gene: ENSMUSG00000020111

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

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.2%

Validation Efficiency

99% (79/80)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,617,333 (GRCm39)	H577R	probably damaging	Het
Acvr1	T	C	2: 58,337,661 (GRCm39)	M474V	probably damaging	Het
Adam1a	A	T	5: 121,657,513 (GRCm39)	C593*	probably null	Het
Agap2	A	G	10: 126,926,744 (GRCm39)	N927S	probably damaging	Het
Ahctf1	T	C	1: 179,598,218 (GRCm39)	H958R	probably damaging	Het
Apaf1	A	G	10: 90,835,581 (GRCm39)	V1088A	probably damaging	Het
Brpf1	G	T	6: 113,296,891 (GRCm39)	K958N	probably damaging	Het
Cadps	A	G	14: 12,705,726 (GRCm38)	I223T	probably damaging	Het
Catsperg2	T	C	7: 29,397,189 (GRCm39)	M1105V	probably benign	Het
Clasp2	T	A	9: 113,735,265 (GRCm39)	F1033L	possibly damaging	Het
Col4a3	T	A	1: 82,678,094 (GRCm39)	I1232N	unknown	Het
Col4a3	T	G	1: 82,689,595 (GRCm39)		probably benign	Het
Comtd1	T	G	14: 21,897,731 (GRCm39)	E134A	probably damaging	Het
Cyp2c55	A	T	19: 39,022,821 (GRCm39)	T320S	probably benign	Het
Dlx2	T	C	2: 71,376,522 (GRCm39)	N72S	probably benign	Het
Dnhd1	T	A	7: 105,301,459 (GRCm39)	V272E	probably damaging	Het
Dnhd1	T	A	7: 105,323,061 (GRCm39)	I523N	probably damaging	Het
Dpysl3	T	A	18: 43,465,996 (GRCm39)	I140F	probably damaging	Het
Elmod2	G	A	8: 84,048,093 (GRCm39)	A123V	probably benign	Het
Etv4	T	C	11: 101,662,507 (GRCm39)		probably benign	Het
F3	A	T	3: 121,523,032 (GRCm39)	T81S	probably damaging	Het
Faf2	C	T	13: 54,799,865 (GRCm39)	A224V	probably damaging	Het
Fbn1	A	T	2: 125,205,549 (GRCm39)	M1109K	probably damaging	Het
Fnbp4	A	G	2: 90,596,187 (GRCm39)	E586G	probably damaging	Het
Gm10428	G	T	11: 62,644,179 (GRCm39)		probably benign	Het
Gm5884	A	T	6: 128,622,050 (GRCm39)		noncoding transcript	Het
Gm6471	T	A	7: 142,385,319 (GRCm39)		noncoding transcript	Het
Gtse1	T	C	15: 85,757,939 (GRCm39)	V515A	probably benign	Het
H2-M2	T	C	17: 37,793,391 (GRCm39)	E205G	probably damaging	Het
Ido1	T	A	8: 25,075,306 (GRCm39)	T259S	possibly damaging	Het
Il1r2	A	G	1: 40,154,308 (GRCm39)	Y225C	probably damaging	Het
Kcnq3	T	G	15: 65,876,658 (GRCm39)	D495A	possibly damaging	Het
Lrrc49	T	C	9: 60,556,773 (GRCm39)	N321D	probably benign	Het
Lztr1	G	T	16: 17,341,247 (GRCm39)	R291L	probably damaging	Het
Msh5	C	T	17: 35,248,928 (GRCm39)	V702I	probably benign	Het
Myh1	T	C	11: 67,101,996 (GRCm39)	I792T	probably benign	Het
Nav1	T	A	1: 135,534,967 (GRCm39)		probably benign	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Or11i1	C	T	3: 106,729,688 (GRCm39)	M62I	probably damaging	Het
Or5ac22	A	G	16: 59,135,027 (GRCm39)	S248P	probably damaging	Het
Or8u9	T	C	2: 86,001,354 (GRCm39)	D269G	probably benign	Het
Otof	G	C	5: 30,551,532 (GRCm39)	N340K	probably benign	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Plek2	T	A	12: 78,941,664 (GRCm39)	Y155F	probably damaging	Het
Ppa1	T	A	10: 61,487,388 (GRCm39)	Y38*	probably null	Het
Pramel22	T	A	4: 143,381,025 (GRCm39)	T333S	probably damaging	Het
Prmt9	T	A	8: 78,303,968 (GRCm39)	C684S	possibly damaging	Het
Rasl10a	A	G	11: 5,009,473 (GRCm39)	D87G	possibly damaging	Het
Rtn4rl1	C	A	11: 75,156,864 (GRCm39)	P432Q	probably benign	Het
Scd4	T	G	19: 44,329,823 (GRCm39)	Y265D	probably damaging	Het
Scn5a	C	T	9: 119,358,085 (GRCm39)	A719T	probably benign	Het
Sdk1	T	A	5: 142,171,040 (GRCm39)	F1968I	probably benign	Het
Sh3bp5	T	C	14: 31,157,880 (GRCm39)	E12G	probably benign	Het
Slc6a12	T	A	6: 121,337,485 (GRCm39)	F390I	probably benign	Het
Snapin	A	T	3: 90,397,539 (GRCm39)	D77E	possibly damaging	Het
Sox2	G	T	3: 34,704,820 (GRCm39)	E86*	probably null	Het
Sparcl1	A	G	5: 104,241,220 (GRCm39)	L68P	probably benign	Het
Sptb	T	A	12: 76,669,027 (GRCm39)	E562V	probably damaging	Het
Taar3	A	T	10: 23,826,483 (GRCm39)	H343L	probably benign	Het
Tanc1	T	A	2: 59,555,095 (GRCm39)	V51E	possibly damaging	Het
Tbc1d22a	T	C	15: 86,123,350 (GRCm39)	S128P	probably damaging	Het
Thada	A	G	17: 84,751,927 (GRCm39)	S350P	probably benign	Het
Tmem161b	T	C	13: 84,408,348 (GRCm39)	V93A	probably benign	Het
Tnn	T	C	1: 159,924,799 (GRCm39)	Y1185C	probably damaging	Het
Trim43a	T	C	9: 88,464,371 (GRCm39)	V94A	probably benign	Het
Ttll12	C	T	15: 83,465,976 (GRCm39)	E407K	probably benign	Het
Ttn	T	C	2: 76,555,856 (GRCm39)	E30383G	probably damaging	Het
Vmn1r29	T	A	6: 58,285,087 (GRCm39)	M269K	possibly damaging	Het
Vmn2r117	A	G	17: 23,697,363 (GRCm39)	S110P	probably benign	Het
Vmn2r6	C	A	3: 64,463,698 (GRCm39)	V290L	possibly damaging	Het
Vmn2r8	A	T	5: 108,950,019 (GRCm39)	L276Q	probably damaging	Het
Zan	C	A	5: 137,423,904 (GRCm39)	C2665F	unknown	Het
Zfp507	C	T	7: 35,493,150 (GRCm39)	R631Q	probably damaging	Het
Zfp983	A	G	17: 21,880,933 (GRCm39)	H287R	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
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
R3953:Micu1	UTSW	10	59,586,326 (GRCm39)	missense	probably benign	0.01
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'- GCAGAATCTCCACCATGCGTTA -3'
(R):5'- CCCTTTGACTCCACCTTGAATA -3'

Sequencing Primer
(F):5'- TCTCCACCATGCGTTAACAGC -3'
(R):5'- AACTATTGAGCTGCCTGCAG -3'

Posted On

2014-07-14