Mutagenetix > Incidental Mutations

Incidental Mutation 'R3893:Micu3'

310044

Institutional Source

Beutler Lab

Gene Symbol

Micu3

Ensembl Gene

ENSMUSG00000039478

Gene Name

mitochondrial calcium uptake family, member 3

Synonyms

Efha2, 2900075B16Rik

MMRRC Submission

040805-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3893 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40307458-40386308 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 40366224 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 315 (L315F)

Ref Sequence

ENSEMBL: ENSMUSP00000070241 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068999]

Predicted Effect

probably damaging
Transcript: ENSMUST00000068999
AA Change: L315F

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

SMART Domains

Protein: ENSMUSP00000070241
Gene: ENSMUSG00000039478
AA Change: L315F

Domain	Start	End	E-Value	Type
low complexity region	50	65	N/A	INTRINSIC
low complexity region	69	80	N/A	INTRINSIC
EFh	229	257	3.93e0	SMART
Blast:EFh	332	360	1e-5	BLAST
EFh	467	495	5.36e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132481

Predicted Effect

unknown
Transcript: ENSMUST00000136835
AA Change: L53F

SMART Domains

Protein: ENSMUSP00000118883
Gene: ENSMUSG00000039478
AA Change: L53F

Domain	Start	End	E-Value	Type
EFh	5	33	6.6e-2	SMART
Blast:EFh	71	99	9e-6	BLAST
EFh	206	234	5.36e-2	SMART

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	T	A	1: 37,631,458	M134L	probably benign	Het
2610303G11Rik	A	T	9: 98,186,811		noncoding transcript	Het
Adam19	C	T	11: 46,128,838	A455V	probably damaging	Het
Akr1c19	G	A	13: 4,238,442	D140N	probably damaging	Het
Atoh1	A	G	6: 64,730,133	T271A	probably damaging	Het
Atp6v0a2	G	A	5: 124,639,265	R168Q	probably damaging	Het
B930094E09Rik	G	A	18: 31,609,689	S59N	unknown	Het
Cadps	A	G	14: 12,488,883		probably benign	Het
Cfap69	A	T	5: 5,581,245	V61E	probably damaging	Het
Chd5	A	G	4: 152,360,656	R365G	probably damaging	Het
Dnajc18	A	T	18: 35,700,995		probably null	Het
Fam49a	T	C	12: 12,362,525	V232A	probably benign	Het
Fmnl1	T	A	11: 103,196,757		probably benign	Het
Gca	A	G	2: 62,679,220	Y89C	probably damaging	Het
Gcnt2	A	G	13: 40,860,446	Y31C	probably benign	Het
Gem	C	T	4: 11,705,889		probably benign	Het
Ggps1	T	C	13: 14,053,699	K300E	probably benign	Het
Gpc5	T	C	14: 115,370,060	M358T	probably benign	Het
Gprin3	T	C	6: 59,354,479	Y281C	probably benign	Het
H2-M11	A	G	17: 36,547,090	T6A	probably benign	Het
Lrp5	G	A	19: 3,612,330	R173C	probably damaging	Het
Lrrk1	T	C	7: 66,278,520		probably benign	Het
Macf1	A	G	4: 123,486,406	Y1298H	probably damaging	Het
Pkd1	G	A	17: 24,572,110		probably null	Het
Pkhd1	A	T	1: 20,312,138	Y2596*	probably null	Het
Pnliprp2	A	G	19: 58,766,273	S250G	probably benign	Het
Prkcq	A	C	2: 11,226,971	E35A	probably damaging	Het
Prpf8	C	A	11: 75,500,257	S1377R	possibly damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Rsbn1l	C	T	5: 20,905,840	R500H	probably damaging	Het
Sart3	C	T	5: 113,746,636	E636K	probably benign	Het
Skint3	A	G	4: 112,253,918	K80R	probably damaging	Het
Slc11a1	G	A	1: 74,384,706	A398T	probably damaging	Het
Sspo	G	T	6: 48,476,571	E2887*	probably null	Het
Tmc5	A	C	7: 118,645,369	Y490S	probably damaging	Het
Tmem181a	T	A	17: 6,295,786	L185H	probably damaging	Het
Tnfsf8	G	T	4: 63,860,959	T34K	possibly damaging	Het
Trim5	T	A	7: 104,276,835	N173I	probably damaging	Het
Vkorc1l1	A	T	5: 129,982,271	I109L	probably benign	Het
Vmn1r214	A	G	13: 23,034,641	T102A	probably benign	Het
Wdr19	A	G	5: 65,228,292	D579G	possibly damaging	Het
Zc3h6	A	G	2: 129,016,140	Y697C	probably damaging	Het
Zfp955b	T	C	17: 33,302,994	I479T	probably benign	Het

Other mutations in Micu3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02970:Micu3	APN	8	40382130	missense	possibly damaging	0.90
R0491:Micu3	UTSW	8	40366253	splice site	probably benign
R1518:Micu3	UTSW	8	40335852	missense	possibly damaging	0.94
R2089:Micu3	UTSW	8	40308372	missense	probably benign	0.01
R3115:Micu3	UTSW	8	40382167	missense	probably benign	0.21
R4026:Micu3	UTSW	8	40359455	intron	probably benign
R4094:Micu3	UTSW	8	40335888	missense	probably null	1.00
R4595:Micu3	UTSW	8	40359397	intron	probably benign
R4678:Micu3	UTSW	8	40380677	missense	probably damaging	1.00
R5501:Micu3	UTSW	8	40354300	splice site	probably null
R6327:Micu3	UTSW	8	40366197	missense	probably benign	0.13
R6793:Micu3	UTSW	8	40380695	missense	probably damaging	0.99
R7292:Micu3	UTSW	8	40382125	missense	probably benign	0.09
R7350:Micu3	UTSW	8	40348958	missense	probably benign	0.09
R7427:Micu3	UTSW	8	40378914	missense	possibly damaging	0.86
R7453:Micu3	UTSW	8	40335898	missense	probably benign
R7635:Micu3	UTSW	8	40366234	missense	possibly damaging	0.76
R8428:Micu3	UTSW	8	40308164	missense	probably benign
X0003:Micu3	UTSW	8	40366222	missense	probably benign	0.00
Z1177:Micu3	UTSW	8	40308224	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTTTGTGTGCAACTGAAAGAC -3'
(R):5'- TACTGCCTTTAGTGCTGAGCC -3'

Sequencing Primer
(F):5'- CAGTGGGCTCGTTTCCC -3'
(R):5'- TTTAGTGCTGAGCCGCCAC -3'

Posted On

2015-04-17