Mutagenetix > Incidental Mutation

Incidental Mutation 'R5501:Micu3'

430611

Institutional Source

Beutler Lab

Gene Symbol

Micu3

Ensembl Gene

ENSMUSG00000039478

Gene Name

mitochondrial calcium uptake family, member 3

Synonyms

Efha2, 2900075B16Rik

MMRRC Submission

043062-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5501 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

40760499-40839349 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 40807341 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q9CTY5

Predicted Effect

probably null
Transcript: ENSMUST00000068999

SMART Domains

Protein: ENSMUSP00000070241
Gene: ENSMUSG00000039478

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

probably null
Transcript: ENSMUST00000136835

SMART Domains

Protein: ENSMUSP00000118883
Gene: ENSMUSG00000039478

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: 98.2%
3x: 97.3%
10x: 95.1%
20x: 90.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	A	C	8: 44,022,941 (GRCm39)	L183*	probably null	Het
Alox12e	G	T	11: 70,207,055 (GRCm39)	Q584K	probably benign	Het
Atp1a4	A	G	1: 172,074,399 (GRCm39)	S285P	probably damaging	Het
Cdt1	C	T	8: 123,297,239 (GRCm39)	R311W	probably damaging	Het
Col25a1	A	G	3: 130,389,312 (GRCm39)	T632A	probably benign	Het
Coro6	T	C	11: 77,358,622 (GRCm39)	F227S	probably damaging	Het
Diras2	C	T	13: 52,661,786 (GRCm39)	V174M	probably benign	Het
Dop1a	A	G	9: 86,389,783 (GRCm39)	D569G	probably benign	Het
Dync1li2	A	G	8: 105,167,104 (GRCm39)		probably null	Het
Dysf	T	C	6: 84,064,800 (GRCm39)	V508A	probably damaging	Het
Edem1	T	C	6: 108,820,061 (GRCm39)		probably null	Het
Eef2k	A	G	7: 120,488,471 (GRCm39)	D452G	probably benign	Het
Espl1	A	G	15: 102,225,565 (GRCm39)	R1539G	possibly damaging	Het
Fat4	A	G	3: 38,941,364 (GRCm39)	S86G	probably benign	Het
Hpgd	A	T	8: 56,751,391 (GRCm39)	D73V	probably benign	Het
Ltb4r1	A	G	14: 56,005,539 (GRCm39)	N281D	probably damaging	Het
Map7	T	C	10: 20,151,948 (GRCm39)	S638P	unknown	Het
Mical1	G	A	10: 41,362,075 (GRCm39)	A934T	probably benign	Het
Mmp24	T	A	2: 155,640,056 (GRCm39)	Y129N	probably damaging	Het
Mras	A	T	9: 99,293,599 (GRCm39)	Y14N	probably damaging	Het
Msmo1	A	T	8: 65,175,523 (GRCm39)	I169N	probably damaging	Het
Mtrr	G	T	13: 68,727,766 (GRCm39)	T60K	probably damaging	Het
Or4c113	A	T	2: 88,885,230 (GRCm39)	L180*	probably null	Het
Or5p6	G	T	7: 107,631,360 (GRCm39)	Y63*	probably null	Het
Or7g30	T	A	9: 19,352,290 (GRCm39)	I27N	possibly damaging	Het
Pam	A	T	1: 97,768,090 (GRCm39)	C8*	probably null	Het
Phrf1	T	G	7: 140,839,834 (GRCm39)	S1169A	possibly damaging	Het
Pkd1l2	T	C	8: 117,792,569 (GRCm39)	T408A	probably damaging	Het
Plch1	G	T	3: 63,615,162 (GRCm39)	Q778K	probably damaging	Het
Ppp1r3a	A	G	6: 14,719,417 (GRCm39)	V499A	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Ryr3	C	A	2: 112,492,849 (GRCm39)	S3736I	possibly damaging	Het
Serpinb13	T	C	1: 106,909,915 (GRCm39)	F11L	possibly damaging	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Smcp	A	G	3: 92,491,731 (GRCm39)	C39R	unknown	Het
Sox9	T	A	11: 112,674,685 (GRCm39)	L161Q	probably damaging	Het
Tanc2	T	C	11: 105,805,811 (GRCm39)		probably null	Het
Tlr3	C	T	8: 45,851,851 (GRCm39)	D349N	possibly damaging	Het
Tmem131l	G	T	3: 83,833,435 (GRCm39)	N809K	probably damaging	Het
Tyk2	T	C	9: 21,032,908 (GRCm39)	Y285C	probably damaging	Het
Usp15	T	A	10: 123,011,804 (GRCm39)	N98Y	probably 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
R6327:Micu3	UTSW	8	40,819,238 (GRCm39)	missense	probably benign	0.13
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'- ACTGAGTCTGCAGTACATAAAGC -3'
(R):5'- ACCGAGTCCAAACATCTGTC -3'

Sequencing Primer
(F):5'- TCTGCAGTACATAAAGCAGAAATACG -3'
(R):5'- GAGTCCAAACATCTGTCTACAGTC -3'

Posted On

2016-10-05