Mutagenetix > Incidental Mutation

Incidental Mutation 'R9561:Micu3'

721011

Institutional Source

Beutler Lab

Gene Symbol

Micu3

Ensembl Gene

ENSMUSG00000039478

Gene Name

mitochondrial calcium uptake family, member 3

Synonyms

Efha2, 2900075B16Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9561 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

40760499-40839349 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 40835156 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 504 (K504*)

Ref Sequence

ENSEMBL: ENSMUSP00000070241 (fasta)

Gene Model

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

AlphaFold

Q9CTY5

Predicted Effect

probably null
Transcript: ENSMUST00000068999
AA Change: K504*

SMART Domains

Protein: ENSMUSP00000070241
Gene: ENSMUSG00000039478
AA Change: K504*

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

probably null
Transcript: ENSMUST00000136835
AA Change: K242*

SMART Domains

Protein: ENSMUSP00000118883
Gene: ENSMUSG00000039478
AA Change: K242*

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: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	G	16: 4,680,980 (GRCm39)	I106V	possibly damaging	Het
Aars1	C	A	8: 111,763,615 (GRCm39)	F18L	probably damaging	Het
Abca7	C	T	10: 79,837,535 (GRCm39)	T473I	probably damaging	Het
Ap1m2	A	T	9: 21,209,524 (GRCm39)	I384N	probably damaging	Het
Atg16l2	G	A	7: 100,948,248 (GRCm39)	Q99*	probably null	Het
Bptf	A	T	11: 106,964,954 (GRCm39)	Y1413*	probably null	Het
Cat	T	C	2: 103,307,250 (GRCm39)	T28A	probably damaging	Het
Ccdc65	T	A	15: 98,620,759 (GRCm39)	V418D	probably benign	Het
Cd226	A	C	18: 89,265,444 (GRCm39)	I241L	probably benign	Het
Crybg1	A	G	10: 43,873,428 (GRCm39)	S1227P	probably benign	Het
Csn2	C	T	5: 87,842,794 (GRCm39)	A78T	probably benign	Het
Cyp21a1	T	A	17: 35,021,652 (GRCm39)	H305L	possibly damaging	Het
Ddx55	A	G	5: 124,706,707 (GRCm39)	E572G	possibly damaging	Het
Dguok	A	G	6: 83,467,548 (GRCm39)	Y100H	probably damaging	Het
Dync1h1	T	A	12: 110,615,533 (GRCm39)	S2955R	probably damaging	Het
Etfbkmt	A	T	6: 149,045,640 (GRCm39)		probably benign	Het
Fam222a	T	A	5: 114,749,347 (GRCm39)	I181N	probably damaging	Het
Fam24b	T	C	7: 130,927,877 (GRCm39)	D104G	probably benign	Het
Fbn2	A	T	18: 58,181,611 (GRCm39)	C1883*	probably null	Het
Fchsd2	T	G	7: 100,920,778 (GRCm39)	L461R	probably benign	Het
Hdgfl1	C	T	13: 26,953,239 (GRCm39)	G278E	probably damaging	Het
Hectd4	G	A	5: 121,472,532 (GRCm39)	R2756Q	possibly damaging	Het
Ints14	A	G	9: 64,882,932 (GRCm39)	D261G	probably damaging	Het
Mapkapk5	C	T	5: 121,672,490 (GRCm39)	A163T	probably benign	Het
Myh1	C	G	11: 67,108,618 (GRCm39)	H1345D	possibly damaging	Het
Myh7	C	A	14: 55,216,146 (GRCm39)	R1289L	probably damaging	Het
Neb	G	T	2: 52,132,068 (GRCm39)	H280Q		Het
Nrbp1	T	A	5: 31,404,771 (GRCm39)		probably null	Het
Oacyl	T	A	18: 65,831,414 (GRCm39)	V17D	possibly damaging	Het
Obsl1	C	A	1: 75,480,157 (GRCm39)	R463L	possibly damaging	Het
Or1f19	T	A	16: 3,410,725 (GRCm39)	L155Q	probably damaging	Het
Or8b40	G	A	9: 38,028,010 (GRCm39)	S311N	probably benign	Het
Pcnt	A	T	10: 76,217,128 (GRCm39)	C2184*	probably null	Het
Pfpl	G	C	19: 12,406,297 (GRCm39)	E183Q	probably damaging	Het
Phrf1	T	G	7: 140,834,815 (GRCm39)	S198A	unknown	Het
Plekhg2	C	G	7: 28,064,249 (GRCm39)	A431P	probably damaging	Het
Ppp1r13b	C	T	12: 111,810,077 (GRCm39)	D244N	probably damaging	Het
Raph1	T	C	1: 60,564,887 (GRCm39)	E200G	possibly damaging	Het
Rnf6	A	G	5: 146,147,936 (GRCm39)	S361P	probably benign	Het
Scgb2b19	G	A	7: 32,978,039 (GRCm39)	A86V	probably benign	Het
Sec23b	T	A	2: 144,408,728 (GRCm39)	C138S	possibly damaging	Het
Slco1c1	T	C	6: 141,505,606 (GRCm39)	S511P	possibly damaging	Het
Tas2r130	A	G	6: 131,607,175 (GRCm39)	S207P	probably damaging	Het
Tdpoz1	A	T	3: 93,578,540 (GRCm39)	H81Q	probably benign	Het
Usp8	A	G	2: 126,578,414 (GRCm39)	K289E	probably damaging	Het
Vmn1r18	A	C	6: 57,367,202 (GRCm39)	N117K	probably benign	Het
Vps13c	G	T	9: 67,872,794 (GRCm39)	G3270V	probably damaging	Het
Wdr20	A	G	12: 110,760,187 (GRCm39)	T358A	probably benign	Het
Wwc1	A	C	11: 35,870,796 (GRCm39)		probably null	Het
Yars2	G	T	16: 16,127,242 (GRCm39)	V436L	possibly damaging	Het
Zfp609	G	A	9: 65,604,512 (GRCm39)	Q1324*	probably null	Het
Zfp81	T	C	17: 33,553,774 (GRCm39)	T347A	probably benign	Het
Zgpat	T	C	2: 181,021,366 (GRCm39)	V292A	probably benign	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
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
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'- GGGCAGATACACTCATTGCATG -3'
(R):5'- GTTCTACCATTACGATCTAACCCCG -3'

Sequencing Primer
(F):5'- CCATTCTGTGACCATCTTGAGAAGG -3'
(R):5'- GACCCCTTCCCAGCTATTGTCTAG -3'

Posted On

2022-08-09