Mutagenetix > Incidental Mutations

Incidental Mutation 'R1976:Micu1'

221731

Institutional Source

Beutler Lab

Gene Symbol

Micu1

Ensembl Gene

ENSMUSG00000020111

Gene Name

mitochondrial calcium uptake 1

Synonyms

C730016L05Rik, Cbara1

MMRRC Submission

039989-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.705) question?

Stock #

R1976 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59702477-59864132 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59768213 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 174 (S174P)

Ref Sequence

ENSEMBL: ENSMUSP00000131000 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000020311
AA Change: S213P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000020311
Gene: ENSMUSG00000020111
AA Change: S213P

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 damaging
Transcript: ENSMUST00000092508
AA Change: S211P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000090166
Gene: ENSMUSG00000020111
AA Change: S211P

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

probably damaging
Transcript: ENSMUST00000165563
AA Change: S207P

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126597
Gene: ENSMUSG00000020111
AA Change: S207P

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

probably damaging
Transcript: ENSMUST00000171409
AA Change: S174P

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

SMART Domains

Protein: ENSMUSP00000131000
Gene: ENSMUSG00000020111
AA Change: S174P

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

noncoding transcript
Transcript: ENSMUST00000172034

Predicted Effect

probably damaging
Transcript: ENSMUST00000179709
AA Change: S207P

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000136567
Gene: ENSMUSG00000020111
AA Change: S207P

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

0.9242

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.8%

Validation Efficiency

98% (65/66)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406P16Rik	A	C	7: 34,257,380	N353K	probably damaging	Het
Abca13	T	C	11: 9,397,815	V3556A	probably damaging	Het
Abcb5	T	C	12: 118,890,682	I833V	probably benign	Het
Adgrd1	A	T	5: 129,140,797	H432L	probably benign	Het
Alppl2	T	A	1: 87,088,741	I204F	probably damaging	Het
Ascc3	T	A	10: 50,649,166	F486I	probably damaging	Het
Bcl9l	T	A	9: 44,506,152	L429Q	possibly damaging	Het
Ccdc33	A	T	9: 58,117,162	Y227*	probably null	Het
Cd101	A	G	3: 101,008,061	V730A	probably damaging	Het
Cdadc1	A	T	14: 59,573,768	V431E	probably damaging	Het
Dazap1	T	A	10: 80,274,620		probably null	Het
Dbpht2	T	A	12: 74,295,861		noncoding transcript	Het
Dennd4b	A	T	3: 90,273,055	T742S	probably damaging	Het
Dhtkd1	T	C	2: 5,902,391	E838G	possibly damaging	Het
Dync2h1	A	T	9: 7,129,045	D1823E	probably benign	Het
Enox1	T	A	14: 77,668,793	N556K	probably benign	Het
Fam227a	T	C	15: 79,626,276	I392M	possibly damaging	Het
Fnip2	A	T	3: 79,480,931	M831K	probably benign	Het
Foxn1	T	C	11: 78,365,937		probably benign	Het
Glis3	T	C	19: 28,262,677		probably benign	Het
Gm4953	T	A	1: 159,168,353		noncoding transcript	Het
Gsr	T	G	8: 33,680,260		probably null	Het
Habp4	G	T	13: 64,184,606	V344F	probably benign	Het
Hdac7	G	A	15: 97,806,505	Q495*	probably null	Het
Helb	T	C	10: 120,094,263	D737G	possibly damaging	Het
Hltf	A	G	3: 20,106,446	D759G	probably damaging	Het
Hlx	G	T	1: 184,731,987	A52D	probably damaging	Het
Itga10	C	T	3: 96,651,738		probably benign	Het
Itsn2	A	G	12: 4,672,733		probably benign	Het
Kank2	A	T	9: 21,794,561	V387E	probably damaging	Het
Lefty1	T	C	1: 180,937,824	V319A	probably benign	Het
Lonp1	T	C	17: 56,615,068	T771A	possibly damaging	Het
Lpcat2b	A	T	5: 107,433,850	K348N	possibly damaging	Het
Lsamp	T	C	16: 41,889,067	V103A	probably damaging	Het
Ltbp4	A	T	7: 27,326,770	C538S	probably damaging	Het
Mta1	A	G	12: 113,136,306	N607S	probably damaging	Het
Muc5b	C	T	7: 141,863,154	S3279L	probably benign	Het
Naalad2	T	C	9: 18,378,699	E211G	probably damaging	Het
Nup155	T	A	15: 8,135,827	M649K	probably benign	Het
Pan2	T	C	10: 128,320,413	V1171A	probably damaging	Het
Pisd	A	G	5: 32,738,865	V372A	probably damaging	Het
Prim1	T	A	10: 128,023,799	C288S	probably benign	Het
Rab23	T	A	1: 33,723,938	C30S	probably damaging	Het
Sacs	A	G	14: 61,202,895	T797A	probably benign	Het
Sall3	T	C	18: 80,971,893	D940G	probably benign	Het
Scn1a	T	C	2: 66,331,271	E311G	probably benign	Het
Sdk1	T	A	5: 142,143,818	I1598N	probably damaging	Het
Slc22a17	A	T	14: 54,908,500		probably null	Het
Slc36a4	T	A	9: 15,734,210	V311D	probably damaging	Het
Sprr3	T	A	3: 92,456,946	Q197L	possibly damaging	Het
Stab2	A	C	10: 86,896,496		probably null	Het
Stk4	C	T	2: 164,100,528	T360M	probably benign	Het
Tas2r123	T	A	6: 132,847,332	V64D	probably damaging	Het
Trhde	T	G	10: 114,588,431	N483T	possibly damaging	Het
Trp53	C	T	11: 69,588,497	T167M	probably damaging	Het
Tspan8	A	G	10: 115,844,130	I217V	probably benign	Het
Usp17la	A	G	7: 104,860,320	E44G	possibly damaging	Het
Usp40	T	G	1: 87,978,536	Q659P	probably benign	Het
Vmn1r4	T	C	6: 56,956,738	C76R	probably damaging	Het
Vmn2r118	C	T	17: 55,592,925	G660R	probably damaging	Het
Zcchc11	T	C	4: 108,479,523	L148P	probably benign	Het
Zfp786	T	A	6: 47,819,757	H749L	probably damaging	Het

Other mutations in Micu1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01982:Micu1	APN	10	59863278	missense	possibly damaging	0.55
IGL02643:Micu1	APN	10	59839736	missense	probably damaging	1.00
IGL03183:Micu1	APN	10	59728048	nonsense	probably null
R0025:Micu1	UTSW	10	59788877	critical splice acceptor site	probably null
R0645:Micu1	UTSW	10	59839681	missense	possibly damaging	0.95
R0988:Micu1	UTSW	10	59756727	intron	probably benign
R1121:Micu1	UTSW	10	59788982	missense	possibly damaging	0.50
R1334:Micu1	UTSW	10	59788976	missense	probably damaging	1.00
R1762:Micu1	UTSW	10	59863260	missense	possibly damaging	0.70
R1925:Micu1	UTSW	10	59733161	splice site	probably benign
R2082:Micu1	UTSW	10	59863307	missense	probably benign	0.00
R2152:Micu1	UTSW	10	59863288	missense	probably benign	0.01
R2395:Micu1	UTSW	10	59863202	nonsense	probably null
R3619:Micu1	UTSW	10	59768258	splice site	probably null
R3953:Micu1	UTSW	10	59750504	missense	probably benign	0.01
R4809:Micu1	UTSW	10	59740822	missense	probably benign
R4948:Micu1	UTSW	10	59863254	missense	possibly damaging	0.56
R5103:Micu1	UTSW	10	59788984	missense	possibly damaging	0.79
R5137:Micu1	UTSW	10	59827232	missense	probably benign	0.20
R5431:Micu1	UTSW	10	59750521	missense	possibly damaging	0.92
R5805:Micu1	UTSW	10	59827306	missense	possibly damaging	0.46
R6910:Micu1	UTSW	10	59740667	missense	probably damaging	1.00
R7030:Micu1	UTSW	10	59789021	missense	possibly damaging	0.92
R7845:Micu1	UTSW	10	59839785	critical splice donor site	probably null
R7928:Micu1	UTSW	10	59839785	critical splice donor site	probably null
Z1177:Micu1	UTSW	10	59728041	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCCGTCCTAGAAGTGCTTAG -3'
(R):5'- TCCTTTCAAGAGAGTTTACACCC -3'

Sequencing Primer
(F):5'- CGTCCTAGAAGTGCTTAGGGGAC -3'
(R):5'- GAGAGTTTACACCCAAATTACAGAAG -3'

Posted On

2014-08-25