Mutagenetix > Incidental Mutation

Incidental Mutation 'R6327:Micu3'

510475

Institutional Source

Beutler Lab

Gene Symbol

Micu3

Ensembl Gene

ENSMUSG00000039478

Gene Name

mitochondrial calcium uptake family, member 3

Synonyms

Efha2, 2900075B16Rik

MMRRC Submission

044481-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6327 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40760499-40839349 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40819238 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 306 (T306A)

Ref Sequence

ENSEMBL: ENSMUSP00000070241 (fasta)

Gene Model

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

AlphaFold

Q9CTY5

Predicted Effect

probably benign
Transcript: ENSMUST00000068999
AA Change: T306A

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000070241
Gene: ENSMUSG00000039478
AA Change: T306A

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: T44A

SMART Domains

Protein: ENSMUSP00000118883
Gene: ENSMUSG00000039478
AA Change: T44A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,535,655 (GRCm39)		probably null	Het
Birc6	C	A	17: 74,969,774 (GRCm39)	H383Q	probably damaging	Het
C2	C	A	17: 35,083,079 (GRCm39)	A431S	probably benign	Het
C3ar1	C	T	6: 122,827,105 (GRCm39)	V371M	probably damaging	Het
Chd1l	G	A	3: 97,494,483 (GRCm39)	A399V	probably damaging	Het
Ckap2l	A	G	2: 129,127,414 (GRCm39)	S255P	probably damaging	Het
Clca3a1	T	A	3: 144,436,558 (GRCm39)	I842F	probably benign	Het
Cmc2	G	T	8: 117,620,896 (GRCm39)	H28Q	probably damaging	Het
Col11a2	C	T	17: 34,262,291 (GRCm39)	P176L	probably benign	Het
Csmd3	T	C	15: 47,744,783 (GRCm39)	D1404G	probably damaging	Het
Dld	G	A	12: 31,382,190 (GRCm39)	P506S	probably benign	Het
Dsg3	T	C	18: 20,672,927 (GRCm39)	M866T	probably benign	Het
Ehd1	T	C	19: 6,348,375 (GRCm39)	I451T	possibly damaging	Het
Fosb	T	C	7: 19,041,152 (GRCm39)	T114A	probably benign	Het
Foxd4	T	A	19: 24,878,198 (GRCm39)	M1L	possibly damaging	Het
Fstl5	T	A	3: 76,615,108 (GRCm39)	I723N	probably benign	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Hdlbp	A	G	1: 93,357,186 (GRCm39)	S299P	possibly damaging	Het
Mast4	G	A	13: 102,897,890 (GRCm39)	R650C	probably damaging	Het
Mylk2	A	G	2: 152,755,613 (GRCm39)	Q259R	possibly damaging	Het
Nfkbiz	T	C	16: 55,642,325 (GRCm39)	N31S	probably damaging	Het
Nisch	A	T	14: 30,893,444 (GRCm39)		probably benign	Het
Nudt17	T	C	3: 96,615,080 (GRCm39)		probably benign	Het
Oprm1	A	C	10: 6,780,063 (GRCm39)	I242L	probably damaging	Het
Or13a26	T	C	7: 140,284,616 (GRCm39)	W151R	probably damaging	Het
Or14c39	T	C	7: 86,343,760 (GRCm39)	V32A	probably benign	Het
Or2y1d	A	C	11: 49,321,828 (GRCm39)	H175P	probably damaging	Het
Otud6b	A	G	4: 14,826,496 (GRCm39)		probably benign	Het
Pamr1	A	T	2: 102,472,519 (GRCm39)	D606V	probably damaging	Het
Pcf11	T	C	7: 92,308,817 (GRCm39)		probably benign	Het
Pom121l2	T	C	13: 22,166,502 (GRCm39)	S258P	probably damaging	Het
Rcsd1	T	A	1: 165,483,403 (GRCm39)	D196V	possibly damaging	Het
Sbf2	C	T	7: 110,040,759 (GRCm39)	R356Q	probably damaging	Het
Serpinf1	A	G	11: 75,304,731 (GRCm39)		probably null	Het
Slc22a30	T	G	19: 8,313,086 (GRCm39)		probably benign	Het
Strn4	G	T	7: 16,550,384 (GRCm39)	S36I	probably benign	Het
Taar6	A	G	10: 23,861,177 (GRCm39)	L123P	probably damaging	Het
Thbs1	G	T	2: 117,943,137 (GRCm39)	R5L	unknown	Het
Timp3	T	C	10: 86,181,650 (GRCm39)	Y174H	probably benign	Het
Trpm2	C	T	10: 77,768,061 (GRCm39)	V813M	probably damaging	Het
Uox	C	T	3: 146,330,332 (GRCm39)	R163*	probably null	Het
Vcan	A	T	13: 89,852,951 (GRCm39)	S670T	probably damaging	Het
Vmn1r65	A	T	7: 6,011,651 (GRCm39)	N194K	possibly damaging	Het

Other mutations in Micu3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02970:Micu3	APN	8	40,835,171 (GRCm39)	missense	possibly damaging	0.90
R0491:Micu3	UTSW	8	40,819,294 (GRCm39)	splice site	probably benign
R1518:Micu3	UTSW	8	40,788,893 (GRCm39)	missense	possibly damaging	0.94
R2089:Micu3	UTSW	8	40,761,413 (GRCm39)	missense	probably benign	0.01
R3115:Micu3	UTSW	8	40,835,208 (GRCm39)	missense	probably benign	0.21
R3893:Micu3	UTSW	8	40,819,265 (GRCm39)	missense	probably damaging	1.00
R4026:Micu3	UTSW	8	40,812,496 (GRCm39)	intron	probably benign
R4094:Micu3	UTSW	8	40,788,929 (GRCm39)	missense	probably null	1.00
R4595:Micu3	UTSW	8	40,812,438 (GRCm39)	intron	probably benign
R4678:Micu3	UTSW	8	40,833,718 (GRCm39)	missense	probably damaging	1.00
R5501:Micu3	UTSW	8	40,807,341 (GRCm39)	splice site	probably null
R6793:Micu3	UTSW	8	40,833,736 (GRCm39)	missense	probably damaging	0.99
R7292:Micu3	UTSW	8	40,835,166 (GRCm39)	missense	probably benign	0.09
R7350:Micu3	UTSW	8	40,801,999 (GRCm39)	missense	probably benign	0.09
R7427:Micu3	UTSW	8	40,831,955 (GRCm39)	missense	possibly damaging	0.86
R7453:Micu3	UTSW	8	40,788,939 (GRCm39)	missense	probably benign
R7635:Micu3	UTSW	8	40,819,275 (GRCm39)	missense	possibly damaging	0.76
R8428:Micu3	UTSW	8	40,761,205 (GRCm39)	missense	probably benign
R9468:Micu3	UTSW	8	40,807,422 (GRCm39)	nonsense	probably null
R9561:Micu3	UTSW	8	40,835,156 (GRCm39)	nonsense	probably null
R9665:Micu3	UTSW	8	40,828,666 (GRCm39)	missense	probably benign	0.13
R9752:Micu3	UTSW	8	40,833,751 (GRCm39)	missense	possibly damaging	0.90
X0003:Micu3	UTSW	8	40,819,263 (GRCm39)	missense	probably benign	0.00
Z1177:Micu3	UTSW	8	40,761,265 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGTGCAACTGAAAGACAATG -3'
(R):5'- TACTGCCTTTAGTGCTGAGC -3'

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

Posted On

2018-04-02