Mutagenetix > Incidental Mutation

Incidental Mutation 'R9698:Mcub'

729416

Institutional Source

Beutler Lab

Gene Symbol

Mcub

Ensembl Gene

Gene Name

mitochondrial calcium uniporter dominant negative beta subunit

Synonyms

9030408N13Rik, Ccdc109b

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9698 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129708609-129763850 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 129710668 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 255 (D255N)

Ref Sequence

ENSEMBL: ENSMUSP00000029624 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029624] [ENSMUST00000029626] [ENSMUST00000153506]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000029624
AA Change: D255N

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

SMART Domains

Protein: ENSMUSP00000029624
Gene: ENSMUSG00000027994
AA Change: D255N

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: ENSMUST00000029626

SMART Domains

Protein: ENSMUSP00000029626
Gene: ENSMUSG00000027997

Domain	Start	End	E-Value	Type
CASc	19	272	6.84e-132	SMART

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

unknown
Transcript: ENSMUST00000153506
AA Change: G201E

SMART Domains

Protein: ENSMUSP00000118170
Gene: ENSMUSG00000027994
AA Change: G201E

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,571,757 (GRCm39)	M1124V	probably benign	Het
Adamts9	A	G	6: 92,784,121 (GRCm39)	C1578R	probably damaging	Het
Adprs	T	C	4: 126,210,514 (GRCm39)	D322G	probably damaging	Het
Anks3	T	C	16: 4,766,113 (GRCm39)	E327G	probably benign	Het
Aspm	T	G	1: 139,389,646 (GRCm39)	N689K	probably benign	Het
Bsn	T	A	9: 107,993,170 (GRCm39)	I861F	probably damaging	Het
Camk2d	C	T	3: 126,633,833 (GRCm39)	H452Y	possibly damaging	Het
Cerk	T	C	15: 86,026,995 (GRCm39)	K477E	probably benign	Het
Cntn6	T	A	6: 104,810,044 (GRCm39)	Y575*	probably null	Het
Copg2	T	C	6: 30,838,373 (GRCm39)	E141G	probably damaging	Het
D430041D05Rik	A	G	2: 103,985,396 (GRCm39)	S1224P	probably damaging	Het
Dhrs3	T	C	4: 144,646,508 (GRCm39)	I186T	possibly damaging	Het
Erich2	A	G	2: 70,371,055 (GRCm39)	D431G	unknown	Het
Fmn2	T	A	1: 174,364,739 (GRCm39)	C559S	unknown	Het
Gpr180	G	A	14: 118,391,302 (GRCm39)	G235R	probably damaging	Het
Hoxa13	T	C	6: 52,236,024 (GRCm39)	T174A	probably benign	Het
Hrh3	A	G	2: 179,743,206 (GRCm39)	S141P	possibly damaging	Het
Hrnr	T	C	3: 93,233,094 (GRCm39)	S1111P	unknown	Het
Il12rb1	G	T	8: 71,263,848 (GRCm39)	Q136H	possibly damaging	Het
Kcna3	T	C	3: 106,944,405 (GRCm39)	S223P	probably benign	Het
Map10	T	A	8: 126,398,723 (GRCm39)	N705K	probably benign	Het
Marf1	C	A	16: 13,967,077 (GRCm39)	V345L	probably benign	Het
Mfsd14b	C	A	13: 65,221,414 (GRCm39)	V293L	probably benign	Het
Mroh3	T	C	1: 136,114,452 (GRCm39)	T625A	probably damaging	Het
Myo18a	A	G	11: 77,720,681 (GRCm39)	Y1152C	probably damaging	Het
Ncdn	T	C	4: 126,643,688 (GRCm39)	Y378C	probably damaging	Het
Or1e30	T	C	11: 73,678,442 (GRCm39)	L226P	probably damaging	Het
Or2m13	A	T	16: 19,226,342 (GRCm39)	C141*	probably null	Het
Or55b4	G	A	7: 102,133,377 (GRCm39)	Q317*	probably null	Het
Pcm1	T	C	8: 41,723,541 (GRCm39)	L342P	possibly damaging	Het
Pdlim1	T	A	19: 40,218,959 (GRCm39)	D224V	probably benign	Het
Plxnb1	A	G	9: 108,925,251 (GRCm39)		probably benign	Het
Pot1a	T	C	6: 25,744,615 (GRCm39)	I630V	probably damaging	Het
Ppil4	A	G	10: 7,683,033 (GRCm39)		probably null	Het
Ptpru	A	T	4: 131,547,531 (GRCm39)	I174K	probably benign	Het
Rab11fip4	T	A	11: 79,583,592 (GRCm39)	L612Q	probably damaging	Het
Rassf4	A	G	6: 116,618,662 (GRCm39)	L207P	probably damaging	Het
Reg3g	A	C	6: 78,444,805 (GRCm39)	S58A	probably benign	Het
Ric8b	T	C	10: 84,783,361 (GRCm39)	L73P	probably damaging	Het
Rmdn2	A	G	17: 79,957,729 (GRCm39)		probably null	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Slc46a2	A	G	4: 59,912,582 (GRCm39)	S397P	probably damaging	Het
Smpd3	A	T	8: 106,992,296 (GRCm39)	S86T	possibly damaging	Het
Sumf1	T	C	6: 108,131,923 (GRCm39)	H198R	probably benign	Het
Tagap1	C	G	17: 7,228,477 (GRCm39)	D18H	probably damaging	Het
Tcf23	C	T	5: 31,126,225 (GRCm39)	R35C	probably damaging	Het
Tdpoz8	T	A	3: 92,981,727 (GRCm39)	D174E	possibly damaging	Het
Tenm3	G	A	8: 48,689,246 (GRCm39)	L2114F	probably damaging	Het
Ttn	A	T	2: 76,773,718 (GRCm39)	I2301K	unknown	Het
Ubr4	A	G	4: 139,167,975 (GRCm39)	E1496G		Het
Usp48	T	C	4: 137,361,202 (GRCm39)	V756A	possibly damaging	Het
Zfp626	A	G	7: 27,518,440 (GRCm39)	I474V	possibly damaging	Het
Zfpm1	T	A	8: 123,063,868 (GRCm39)	S976T	unknown	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
R8319:Mcub	UTSW	3	129,727,328 (GRCm39)	missense	probably damaging	1.00
R9259:Mcub	UTSW	3	129,720,070 (GRCm39)	missense	probably benign	0.00
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'- CCTGGATGACGAAGCTTTAGAC -3'
(R):5'- CCCTTAAGTTGGCAAACTCATAAAC -3'

Sequencing Primer
(F):5'- ATCTTTGGTGACCCCTGTGAAAG -3'
(R):5'- TTGGCAAACTCATAAACCGAATGG -3'

Posted On

2022-10-06