Mutagenetix > Incidental Mutation

Incidental Mutation 'R9071:Msto1'

716042

Institutional Source

Beutler Lab

Gene Symbol

Msto1

Ensembl Gene

ENSMUSG00000068922

Gene Name

misato 1, mitochondrial distribution and morphology regulator

Synonyms

MMRRC Submission

068893-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.920) question?

Stock #

R9071 (G1)

Quality Score

41.0074

Status

Validated

Chromosome

Chromosomal Location

88816923-88821257 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 88812414 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115645 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081695] [ENSMUST00000090942] [ENSMUST00000107494] [ENSMUST00000107498] [ENSMUST00000126245]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000081695

SMART Domains

Protein: ENSMUSP00000080397
Gene: ENSMUSG00000054199

Domain	Start	End	E-Value	Type
low complexity region	16	29	N/A	INTRINSIC
low complexity region	104	115	N/A	INTRINSIC
low complexity region	150	163	N/A	INTRINSIC
low complexity region	240	256	N/A	INTRINSIC
low complexity region	348	377	N/A	INTRINSIC
low complexity region	432	439	N/A	INTRINSIC
low complexity region	527	542	N/A	INTRINSIC
low complexity region	683	696	N/A	INTRINSIC
Blast:SANT	813	865	1e-23	BLAST
low complexity region	961	975	N/A	INTRINSIC
low complexity region	1311	1329	N/A	INTRINSIC
low complexity region	1418	1434	N/A	INTRINSIC
low complexity region	1452	1497	N/A	INTRINSIC
low complexity region	1507	1541	N/A	INTRINSIC
Pfam:PAH	1652	1700	8.8e-9	PFAM
low complexity region	1800	1811	N/A	INTRINSIC
coiled coil region	1919	1943	N/A	INTRINSIC
low complexity region	2085	2094	N/A	INTRINSIC
SANT	2153	2204	2.2e-1	SMART
low complexity region	2207	2222	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000090942

SMART Domains

Protein: ENSMUSP00000088461
Gene: ENSMUSG00000054199

Domain	Start	End	E-Value	Type
low complexity region	16	29	N/A	INTRINSIC
low complexity region	104	115	N/A	INTRINSIC
low complexity region	150	163	N/A	INTRINSIC
low complexity region	241	257	N/A	INTRINSIC
low complexity region	349	378	N/A	INTRINSIC
low complexity region	433	440	N/A	INTRINSIC
low complexity region	528	543	N/A	INTRINSIC
low complexity region	684	697	N/A	INTRINSIC
Blast:SANT	814	866	2e-23	BLAST
low complexity region	962	976	N/A	INTRINSIC
low complexity region	1312	1330	N/A	INTRINSIC
low complexity region	1419	1435	N/A	INTRINSIC
low complexity region	1453	1498	N/A	INTRINSIC
low complexity region	1508	1542	N/A	INTRINSIC
Pfam:PAH	1654	1700	2.1e-8	PFAM
low complexity region	1801	1812	N/A	INTRINSIC
coiled coil region	1920	1944	N/A	INTRINSIC
low complexity region	2086	2095	N/A	INTRINSIC
SANT	2154	2205	2.2e-1	SMART
low complexity region	2208	2223	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107494

SMART Domains

Protein: ENSMUSP00000103118
Gene: ENSMUSG00000068922

Domain	Start	End	E-Value	Type
low complexity region	50	63	N/A	INTRINSIC
Pfam:Tubulin_3	153	345	5.3e-28	PFAM
Pfam:Tubulin	169	300	7.3e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107498

SMART Domains

Protein: ENSMUSP00000103122
Gene: ENSMUSG00000054199

Domain	Start	End	E-Value	Type
low complexity region	16	29	N/A	INTRINSIC
low complexity region	104	115	N/A	INTRINSIC
low complexity region	150	163	N/A	INTRINSIC
low complexity region	240	256	N/A	INTRINSIC
low complexity region	348	377	N/A	INTRINSIC
low complexity region	432	439	N/A	INTRINSIC
low complexity region	527	542	N/A	INTRINSIC
low complexity region	683	696	N/A	INTRINSIC
Blast:SANT	813	865	1e-23	BLAST
low complexity region	961	975	N/A	INTRINSIC
low complexity region	1311	1329	N/A	INTRINSIC
low complexity region	1418	1434	N/A	INTRINSIC
low complexity region	1452	1497	N/A	INTRINSIC
low complexity region	1507	1541	N/A	INTRINSIC
Pfam:PAH	1652	1700	8.8e-9	PFAM
low complexity region	1800	1811	N/A	INTRINSIC
coiled coil region	1919	1943	N/A	INTRINSIC
low complexity region	2085	2094	N/A	INTRINSIC
SANT	2153	2204	2.2e-1	SMART
low complexity region	2207	2222	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000126245

SMART Domains

Protein: ENSMUSP00000115645
Gene: ENSMUSG00000068922

Domain	Start	End	E-Value	Type
Pfam:Misat_Tub_SegII	6	120	2.1e-36	PFAM
Pfam:Tubulin_3	140	332	1.9e-27	PFAM
Pfam:Tubulin	151	288	8.7e-12	PFAM

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	G	T	7: 41,274,783 (GRCm39)	R162L	probably benign	Het
Alpi	A	G	1: 87,026,584 (GRCm39)	V469A	probably damaging	Het
Amotl2	G	T	9: 102,595,892 (GRCm39)		probably benign	Het
Ano3	T	A	2: 110,625,418 (GRCm39)		probably null	Het
Atg16l1	G	T	1: 87,683,907 (GRCm39)		probably benign	Het
Atg2b	C	A	12: 105,625,099 (GRCm39)	E626*	probably null	Het
B3galt9	T	C	2: 34,728,435 (GRCm39)	V78A	probably benign	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,128,173 (GRCm39)		probably benign	Het
Ccdc162	G	A	10: 41,457,174 (GRCm39)	Q1588*	probably null	Het
Cd3d	A	T	9: 44,896,340 (GRCm39)	H43L	probably benign	Het
Cenpk	C	T	13: 104,378,870 (GRCm39)	Q164*	probably null	Het
Clybl	C	A	14: 122,608,697 (GRCm39)	D96E	probably benign	Het
Cog1	T	C	11: 113,546,939 (GRCm39)	V511A	probably damaging	Het
Crhr1	T	A	11: 104,064,133 (GRCm39)	I282N	probably damaging	Het
Crybg2	A	G	4: 133,818,542 (GRCm39)	N1433D	probably damaging	Het
Cspp1	A	T	1: 10,159,121 (GRCm39)	I516F	possibly damaging	Het
Cul9	T	C	17: 46,837,379 (GRCm39)	T1030A	probably benign	Het
Cyp2d10	T	C	15: 82,288,361 (GRCm39)	T313A	probably damaging	Het
Ddx11	T	A	17: 66,450,736 (GRCm39)	N549K	probably damaging	Het
Ddx41	A	G	13: 55,680,219 (GRCm39)	V391A	probably damaging	Het
Eif3a	T	C	19: 60,751,634 (GRCm39)	D1227G	unknown	Het
Fam83f	T	C	15: 80,576,206 (GRCm39)	Y286H	probably damaging	Het
Fasn	T	C	11: 120,708,324 (GRCm39)	D647G	probably damaging	Het
Fat4	T	C	3: 39,037,598 (GRCm39)	V3750A	probably benign	Het
Golga2	T	C	2: 32,178,364 (GRCm39)	S14P	probably damaging	Het
Hgsnat	A	G	8: 26,436,302 (GRCm39)	V584A	possibly damaging	Het
Ifi207	A	T	1: 173,557,764 (GRCm39)	F325I	unknown	Het
Igfals	A	T	17: 25,099,670 (GRCm39)	I254F	probably damaging	Het
Matr3	T	C	18: 35,705,803 (GRCm39)	Y243H	possibly damaging	Het
Mki67	G	C	7: 135,301,205 (GRCm39)	D1276E	probably benign	Het
Moap1	T	A	12: 102,709,364 (GRCm39)	K62*	probably null	Het
Myt1	A	T	2: 181,448,420 (GRCm39)	D697V	possibly damaging	Het
Nampt	T	A	12: 32,892,781 (GRCm39)	V356E	probably damaging	Het
Nell2	T	A	15: 95,244,682 (GRCm39)	K472*	probably null	Het
Nfe2l3	A	C	6: 51,434,243 (GRCm39)	S268R	probably benign	Het
Or8b43	T	C	9: 38,361,032 (GRCm39)	I288T	possibly damaging	Het
Osbpl10	G	T	9: 114,890,908 (GRCm39)	V99L	probably benign	Het
Plod2	A	G	9: 92,485,048 (GRCm39)	I537M	probably benign	Het
Prdm4	A	G	10: 85,729,076 (GRCm39)	L770P	probably benign	Het
Prr27	C	A	5: 87,990,994 (GRCm39)	P202Q	probably benign	Het
Scaper	T	C	9: 55,771,803 (GRCm39)	D371G	probably benign	Het
Sema3e	A	G	5: 14,282,154 (GRCm39)	K430R	probably benign	Het
Sez6l	A	T	5: 112,573,603 (GRCm39)		probably benign	Het
Slco1a5	A	T	6: 142,196,052 (GRCm39)	I317N	possibly damaging	Het
Spata4	T	G	8: 55,055,742 (GRCm39)	F211C	probably damaging	Het
Sspo	A	G	6: 48,433,982 (GRCm39)	E929G	probably benign	Het
Sult1e1	A	C	5: 87,735,681 (GRCm39)		probably benign	Het
Tas2r125	A	T	6: 132,887,400 (GRCm39)	N263Y	probably benign	Het
Ugt3a1	T	A	15: 9,370,224 (GRCm39)	L456*	probably null	Het
Wdr20rt	G	A	12: 65,274,222 (GRCm39)	V562I	probably benign	Het
Zc3h7b	T	C	15: 81,677,964 (GRCm39)	*983Q	probably null	Het
Zfp28	T	A	7: 6,397,544 (GRCm39)	C660S	probably damaging	Het

Other mutations in Msto1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01307:Msto1	APN	3	88,820,993 (GRCm39)	missense	probably benign	0.12
IGL01309:Msto1	APN	3	88,820,993 (GRCm39)	missense	probably benign	0.12
IGL01327:Msto1	APN	3	88,817,939 (GRCm39)	splice site	probably null
IGL01505:Msto1	APN	3	88,818,050 (GRCm39)	missense	probably benign	0.00
IGL01914:Msto1	APN	3	88,820,210 (GRCm39)	missense	probably benign	0.39
IGL02292:Msto1	APN	3	88,819,131 (GRCm39)	missense	probably benign	0.20
IGL02349:Msto1	APN	3	88,818,205 (GRCm39)	missense	possibly damaging	0.95
IGL02510:Msto1	APN	3	88,817,652 (GRCm39)	missense	probably damaging	1.00
IGL03120:Msto1	APN	3	88,818,116 (GRCm39)	missense	probably damaging	1.00
R0041:Msto1	UTSW	3	88,817,542 (GRCm39)	missense	probably damaging	0.97
R0110:Msto1	UTSW	3	88,818,848 (GRCm39)	missense	probably benign	0.02
R0282:Msto1	UTSW	3	88,818,884 (GRCm39)	missense	possibly damaging	0.91
R0384:Msto1	UTSW	3	88,817,646 (GRCm39)	nonsense	probably null
R0450:Msto1	UTSW	3	88,818,848 (GRCm39)	missense	probably benign	0.02
R0469:Msto1	UTSW	3	88,818,848 (GRCm39)	missense	probably benign	0.02
R0510:Msto1	UTSW	3	88,818,848 (GRCm39)	missense	probably benign	0.02
R2088:Msto1	UTSW	3	88,818,297 (GRCm39)	missense	probably damaging	1.00
R2516:Msto1	UTSW	3	88,819,200 (GRCm39)	splice site	probably null
R4897:Msto1	UTSW	3	88,819,559 (GRCm39)	missense	probably benign	0.02
R5661:Msto1	UTSW	3	88,820,192 (GRCm39)	missense	possibly damaging	0.66
R6179:Msto1	UTSW	3	88,818,254 (GRCm39)	missense	probably damaging	1.00
R6326:Msto1	UTSW	3	88,819,405 (GRCm39)	missense	probably damaging	1.00
R6395:Msto1	UTSW	3	88,812,781 (GRCm39)	missense	possibly damaging	0.77
R7039:Msto1	UTSW	3	88,818,697 (GRCm39)	missense	probably damaging	0.96
R7399:Msto1	UTSW	3	88,819,130 (GRCm39)	missense	probably damaging	1.00
R7557:Msto1	UTSW	3	88,817,435 (GRCm39)	critical splice donor site	probably null
R7583:Msto1	UTSW	3	88,820,236 (GRCm39)	critical splice acceptor site	probably null
R7620:Msto1	UTSW	3	88,818,614 (GRCm39)	missense	possibly damaging	0.87
R7993:Msto1	UTSW	3	88,817,481 (GRCm39)	missense	probably benign	0.17
R8015:Msto1	UTSW	3	88,818,863 (GRCm39)	missense	probably damaging	1.00
R8235:Msto1	UTSW	3	88,820,228 (GRCm39)	missense	probably damaging	1.00
R8693:Msto1	UTSW	3	88,819,184 (GRCm39)	missense	probably benign	0.02
R9246:Msto1	UTSW	3	88,819,411 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CAGAAGTCTTTAAATCTGTGGGTTTTC -3'
(R):5'- TCCAAAGAAAGAGGCATGCC -3'

Sequencing Primer
(F):5'- CTAGGAATCAAACCTGGATGCTCTG -3'
(R):5'- CATAGGCCCAGGACAAACTTAAGTC -3'

Posted On

2022-07-01