Mutagenetix > Incidental Mutation

Incidental Mutation 'R7864:Mcub'

607707

Institutional Source

Beutler Lab

Gene Symbol

Mcub

Ensembl Gene

Gene Name

mitochondrial calcium uniporter dominant negative beta subunit

Synonyms

9030408N13Rik, Ccdc109b

MMRRC Submission

045917-MU

Accession Numbers

Essential gene?

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

Stock #

R7864 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129708609-129763850 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129712272 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 201 (I201T)

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: I201T

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029624
Gene: ENSMUSG00000027994
AA Change: I201T

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

SMART Domains

Protein: ENSMUSP00000115224
Gene: ENSMUSG00000027994
AA Change: I115T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000153506

SMART Domains

Protein: ENSMUSP00000118170
Gene: ENSMUSG00000027994

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot2	C	T	12: 84,034,796 (GRCm39)	R41W	probably benign	Het
Adam32	T	A	8: 25,412,292 (GRCm39)	H88L	probably benign	Het
Ank1	A	G	8: 23,577,976 (GRCm39)	T238A	probably damaging	Het
Arid1b	T	C	17: 5,392,530 (GRCm39)	L1967P	probably damaging	Het
Bbx	G	T	16: 50,082,797 (GRCm39)	H216Q	probably damaging	Het
C030005K15Rik	G	A	10: 97,561,614 (GRCm39)	T39M	probably damaging	Het
C1s2	A	G	6: 124,602,246 (GRCm39)	V655A	probably benign	Het
Carmil2	A	G	8: 106,414,906 (GRCm39)	Y184C	probably damaging	Het
Ces1f	G	A	8: 94,000,769 (GRCm39)	A125V	possibly damaging	Het
Chaf1a	C	T	17: 56,354,339 (GRCm39)	T203I	unknown	Het
Cntn5	A	G	9: 9,984,182 (GRCm39)	S144P	probably damaging	Het
Cpa5	A	T	6: 30,631,394 (GRCm39)	Y436F	probably damaging	Het
Dbf4	A	T	5: 8,460,010 (GRCm39)	H150Q	possibly damaging	Het
Dlg5	G	A	14: 24,295,280 (GRCm39)	P80L	probably damaging	Het
Dock8	A	T	19: 25,140,864 (GRCm39)	D1360V	possibly damaging	Het
Ecm1	A	T	3: 95,641,689 (GRCm39)	I515N	probably benign	Het
Fancc	A	T	13: 63,548,073 (GRCm39)	C75*	probably null	Het
Foxa1	A	T	12: 57,589,533 (GRCm39)	V229D	probably damaging	Het
Gga1	T	C	15: 78,772,444 (GRCm39)	M248T	probably damaging	Het
Gm1527	A	G	3: 28,980,619 (GRCm39)	Q573R	probably benign	Het
Hivep1	A	C	13: 42,312,290 (GRCm39)	H1510P	probably benign	Het
Htr1f	A	C	16: 64,747,157 (GRCm39)	I45S	probably damaging	Het
Itsn1	T	C	16: 91,598,454 (GRCm39)	V129A	possibly damaging	Het
Klrg2	G	T	6: 38,605,024 (GRCm39)	Q347K	possibly damaging	Het
Lama2	G	A	10: 26,932,611 (GRCm39)	T1996I	probably benign	Het
Man1a	C	A	10: 53,906,843 (GRCm39)	L219F	possibly damaging	Het
Or10q1	A	G	19: 13,726,710 (GRCm39)	D80G	probably benign	Het
Otogl	A	G	10: 107,705,428 (GRCm39)	L633P	probably damaging	Het
Pate9	A	T	9: 36,445,747 (GRCm39)	F68Y	probably benign	Het
Pik3ca	T	A	3: 32,497,762 (GRCm39)	L429*	probably null	Het
Pkhd1l1	T	C	15: 44,389,449 (GRCm39)		probably null	Het
Pld4	C	A	12: 112,731,557 (GRCm39)	Q237K	probably damaging	Het
Plekhm2	T	C	4: 141,355,357 (GRCm39)	E897G	probably damaging	Het
Pomt2	A	G	12: 87,169,656 (GRCm39)	F475L	probably benign	Het
Popdc3	G	A	10: 45,191,278 (GRCm39)	A130T	probably benign	Het
Prss54	T	C	8: 96,286,297 (GRCm39)	K259E	probably benign	Het
Psg23	T	G	7: 18,344,435 (GRCm39)	N340T	possibly damaging	Het
Rab1a	G	T	11: 20,165,673 (GRCm39)	G23*	probably null	Het
Rgs9	A	T	11: 109,166,446 (GRCm39)	F108Y	probably damaging	Het
Scn9a	T	A	2: 66,314,904 (GRCm39)	T1605S	possibly damaging	Het
Sh2d4b	G	A	14: 40,562,208 (GRCm39)	T319I	probably damaging	Het
Slc28a3	A	T	13: 58,726,217 (GRCm39)		probably null	Het
Syngap1	A	T	17: 27,189,502 (GRCm39)	Q1286L		Het
Tmem132d	G	A	5: 127,860,980 (GRCm39)	T1047I	probably damaging	Het
Togaram2	G	A	17: 72,007,935 (GRCm39)	R420H	probably damaging	Het
Uimc1	G	A	13: 55,241,080 (GRCm39)	R3*	probably null	Het
Vmn2r7	C	T	3: 64,598,947 (GRCm39)	V537I	probably benign	Het
Wwp1	T	A	4: 19,635,328 (GRCm39)	K584N	probably damaging	Het
Zc3h12d	A	T	10: 7,715,723 (GRCm39)	Q42L	possibly damaging	Het
Zfp729a	A	T	13: 67,769,569 (GRCm39)	V220E	probably benign	Het
Zfp91	A	G	19: 12,748,403 (GRCm39)	V391A	probably 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
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
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'- AGTACTCGTCTCACAGGTCG -3'
(R):5'- GCTCAGGGACTCAGATTTCATGG -3'

Sequencing Primer
(F):5'- GCAGCTCACAGCCCATTTTCAG -3'
(R):5'- TCATGGCCTGGACTTACCTAGAG -3'

Posted On

2019-12-20