Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01914:Msto1'

179877

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Msto1

Ensembl Gene

ENSMUSG00000068922

Gene Name

misato 1, mitochondrial distribution and morphology regulator

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.920) question?

Stock #

IGL01914

Quality Score

Status

Chromosome

Chromosomal Location

88816923-88821257 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88820210 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 82 (E82G)

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
AA Change: E95G

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000103118
Gene: ENSMUSG00000068922
AA Change: E95G

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
AA Change: E82G

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000115645
Gene: ENSMUSG00000068922
AA Change: E82G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128988

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137243

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147828

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atf7	A	T	15: 102,459,913 (GRCm39)	Y67*	probably null	Het
Atp6v1b2	C	A	8: 69,548,932 (GRCm39)		probably benign	Het
Cd24a	T	C	10: 43,458,699 (GRCm39)	S79P	unknown	Het
Col4a2	G	A	8: 11,464,754 (GRCm39)	E340K	possibly damaging	Het
Dtna	A	T	18: 23,730,516 (GRCm39)	N301I	possibly damaging	Het
Ero1a	T	C	14: 45,544,069 (GRCm39)	D45G	probably damaging	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
H6pd	A	T	4: 150,078,920 (GRCm39)		probably benign	Het
Htt	A	G	5: 34,987,053 (GRCm39)	T1091A	probably benign	Het
Mup11	T	A	4: 60,615,821 (GRCm39)		probably benign	Het
Nlrp9a	T	A	7: 26,256,689 (GRCm39)	N13K	probably benign	Het
Nsun7	C	T	5: 66,433,977 (GRCm39)	P209L	probably damaging	Het
Or5ac25	A	T	16: 59,182,294 (GRCm39)	C96S	probably damaging	Het
Or5al1	C	T	2: 85,990,391 (GRCm39)	V108I	probably benign	Het
Or8j3	G	A	2: 86,029,016 (GRCm39)	L27F	probably benign	Het
Pecam1	A	G	11: 106,590,693 (GRCm39)	I27T	possibly damaging	Het
Prkcd	T	C	14: 30,329,383 (GRCm39)	E19G	possibly damaging	Het
Slc4a11	A	T	2: 130,529,199 (GRCm39)	I417N	probably damaging	Het
Stat1	T	C	1: 52,165,716 (GRCm39)	I104T	probably benign	Het
Stk17b	T	C	1: 53,800,226 (GRCm39)	N251D	probably damaging	Het
Ttll4	C	T	1: 74,718,217 (GRCm39)	H23Y	probably benign	Het
Vmn2r79	A	T	7: 86,686,571 (GRCm39)	T651S	probably benign	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
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
R9071:Msto1	UTSW	3	88,812,414 (GRCm39)	unclassified	probably benign
R9246:Msto1	UTSW	3	88,819,411 (GRCm39)	missense	probably damaging	0.99

Posted On

2014-05-07