Mutagenetix > Incidental Mutation

Incidental Mutation 'R8319:Mcub'

641844

Institutional Source

Beutler Lab

Gene Symbol

Mcub

Ensembl Gene

Gene Name

mitochondrial calcium uniporter dominant negative beta subunit

Synonyms

9030408N13Rik, Ccdc109b

MMRRC Submission

067856-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.192) question?

Stock #

R8319 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129708609-129763850 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129727328 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 93 (F93L)

Ref Sequence

ENSEMBL: ENSMUSP00000029624 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029624] [ENSMUST00000122961] [ENSMUST00000153506]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000029624
AA Change: F93L

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

SMART Domains

Protein: ENSMUSP00000029624
Gene: ENSMUSG00000027994
AA Change: F93L

Domain	Start	End	E-Value	Type
Pfam:MCU	109	314	4.4e-68	PFAM
low complexity region	323	335	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000122961

Predicted Effect

probably benign
Transcript: ENSMUST00000146340

SMART Domains

Protein: ENSMUSP00000115224
Gene: ENSMUSG00000027994

Domain	Start	End	E-Value	Type
Pfam:MCU	34	149	2.4e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000153506
AA Change: F93L

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

SMART Domains

Protein: ENSMUSP00000118170
Gene: ENSMUSG00000027994
AA Change: F93L

Domain	Start	End	E-Value	Type
low complexity region	178	202	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	A	T	13: 59,838,486 (GRCm39)	D115E	probably benign	Het
Abcc1	T	A	16: 14,214,315 (GRCm39)	L197Q	probably damaging	Het
Adamts14	T	G	10: 61,057,706 (GRCm39)	N547T	probably benign	Het
Ampd3	T	A	7: 110,394,982 (GRCm39)	S301R	probably benign	Het
Atg9a	G	A	1: 75,162,342 (GRCm39)	Q523*	probably null	Het
Atl1	A	T	12: 70,002,093 (GRCm39)	T351S	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
Cacna1c	T	C	6: 118,614,735 (GRCm39)	I1315V		Het
Col12a1	C	T	9: 79,555,979 (GRCm39)	G2013R	probably damaging	Het
Cpne2	A	G	8: 95,280,040 (GRCm39)	D153G	probably benign	Het
Cryzl1	T	C	16: 91,489,251 (GRCm39)	S205G	probably benign	Het
Cux1	C	T	5: 136,594,251 (GRCm39)	A5T	probably benign	Het
Ddx60	T	C	8: 62,395,669 (GRCm39)		probably null	Het
Dnajc13	G	A	9: 104,067,590 (GRCm39)	P1190S	probably benign	Het
Fbxw7	T	A	3: 84,881,859 (GRCm39)	V526E		Het
Fig4	C	A	10: 41,139,097 (GRCm39)	G369C	probably damaging	Het
Gabra1	C	T	11: 42,026,315 (GRCm39)	A326T	probably damaging	Het
Gbe1	G	A	16: 70,284,964 (GRCm39)	G429S	probably benign	Het
Gtf3c5	A	T	2: 28,460,506 (GRCm39)	H364Q	probably benign	Het
Hcfc2	T	A	10: 82,574,201 (GRCm39)	I125N	probably damaging	Het
Hnrnpul1	A	T	7: 25,453,902 (GRCm39)	D53E	probably benign	Het
Ift56	T	A	6: 38,382,880 (GRCm39)	H338Q	probably damaging	Het
Il18	A	T	9: 50,492,818 (GRCm39)	D128V	possibly damaging	Het
Intu	T	A	3: 40,608,202 (GRCm39)	S71R	probably damaging	Het
Klhl6	T	C	16: 19,775,940 (GRCm39)	E206G	possibly damaging	Het
Lcor	T	A	19: 41,571,343 (GRCm39)	S179T	probably damaging	Het
Mdga2	T	C	12: 67,267,803 (GRCm39)	Y5C	unknown	Het
Naip1	C	A	13: 100,565,721 (GRCm39)	V354L	probably benign	Het
Naip5	A	G	13: 100,358,167 (GRCm39)	V1023A	probably benign	Het
Ndufaf1	A	G	2: 119,490,568 (GRCm39)	L166P	probably damaging	Het
Ninl	A	T	2: 150,801,827 (GRCm39)	L147H	probably damaging	Het
Or4c12	A	G	2: 89,774,024 (GRCm39)	V145A	possibly damaging	Het
Or51b17	A	G	7: 103,542,636 (GRCm39)	I102T	probably damaging	Het
Otogl	C	T	10: 107,689,127 (GRCm39)		probably null	Het
Otulin	AT	ATT	15: 27,606,404 (GRCm39)		probably null	Het
Phf11b	A	C	14: 59,576,146 (GRCm39)	L30R	probably damaging	Het
Prdm13	G	T	4: 21,679,327 (GRCm39)	H388N	unknown	Het
Pwwp2b	T	C	7: 138,835,099 (GRCm39)	V180A	probably damaging	Het
Reep4	T	A	14: 70,783,951 (GRCm39)	S23T	probably damaging	Het
Rusc2	T	A	4: 43,425,378 (GRCm39)	L1161Q	probably damaging	Het
Scgb1b3	G	A	7: 31,075,404 (GRCm39)		probably null	Het
Scn10a	G	T	9: 119,499,455 (GRCm39)	N279K	probably benign	Het
Smurf2	A	G	11: 106,715,578 (GRCm39)	L643S	probably damaging	Het
Sox12	G	A	2: 152,239,192 (GRCm39)	P143S	unknown	Het
Specc1	C	T	11: 62,009,501 (GRCm39)	T339I	possibly damaging	Het
Tas2r139	T	C	6: 42,118,720 (GRCm39)	V284A	probably benign	Het
Thumpd3	T	A	6: 113,040,107 (GRCm39)	C330*	probably null	Het
Ttn	A	G	2: 76,537,298 (GRCm39)	S34877P	possibly damaging	Het
Zfp568	T	C	7: 29,697,629 (GRCm39)	S104P	possibly damaging	Het
Zfp933	G	A	4: 147,912,910 (GRCm39)	H50Y	possibly damaging	Het

Other mutations in Mcub

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0006:Mcub	UTSW	3	129,727,414 (GRCm39)	splice site	probably benign
R0632:Mcub	UTSW	3	129,712,375 (GRCm39)	missense	probably benign	0.00
R1471:Mcub	UTSW	3	129,709,464 (GRCm39)	missense	probably damaging	1.00
R1740:Mcub	UTSW	3	129,712,376 (GRCm39)	missense	probably benign	0.12
R1894:Mcub	UTSW	3	129,728,312 (GRCm39)	missense	probably benign	0.41
R2104:Mcub	UTSW	3	129,712,337 (GRCm39)	missense	probably benign	0.12
R4556:Mcub	UTSW	3	129,709,384 (GRCm39)	nonsense	probably null
R4777:Mcub	UTSW	3	129,763,600 (GRCm39)	missense	probably damaging	0.97
R4871:Mcub	UTSW	3	129,710,685 (GRCm39)	nonsense	probably null
R5213:Mcub	UTSW	3	129,710,646 (GRCm39)	missense	probably benign	0.01
R5464:Mcub	UTSW	3	129,709,365 (GRCm39)	missense	probably benign	0.10
R5587:Mcub	UTSW	3	129,710,619 (GRCm39)	missense	probably benign	0.01
R5605:Mcub	UTSW	3	129,710,658 (GRCm39)	missense	probably damaging	1.00
R5740:Mcub	UTSW	3	129,712,374 (GRCm39)	missense	probably benign	0.01
R6031:Mcub	UTSW	3	129,720,038 (GRCm39)	missense	probably damaging	1.00
R6031:Mcub	UTSW	3	129,720,038 (GRCm39)	missense	probably damaging	1.00
R6242:Mcub	UTSW	3	129,709,444 (GRCm39)	missense	probably benign	0.01
R6389:Mcub	UTSW	3	129,712,357 (GRCm39)	missense	probably benign	0.00
R7451:Mcub	UTSW	3	129,710,752 (GRCm39)	missense	possibly damaging	0.46
R7864:Mcub	UTSW	3	129,712,272 (GRCm39)	missense	probably damaging	0.98
R8246:Mcub	UTSW	3	129,708,814 (GRCm39)	missense	probably benign	0.01
R9259:Mcub	UTSW	3	129,720,070 (GRCm39)	missense	probably benign	0.00
R9698:Mcub	UTSW	3	129,710,668 (GRCm39)	missense	probably damaging	1.00
Z1177:Mcub	UTSW	3	129,710,592 (GRCm39)	missense	probably damaging	1.00
Z1177:Mcub	UTSW	3	129,710,591 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ACTCTGCATGGGTAGCCATTG -3'
(R):5'- GATCAATAAAACACATTACTGCACTT -3'

Sequencing Primer
(F):5'- CTCTGCATGGGTAGCCATTGATTAC -3'
(R):5'- TTGGATTCCCTGGAAACACG -3'

Posted On

2020-07-28