Mutagenetix > Incidental Mutation

Incidental Mutation 'R2516:Msto1'

253757

Institutional Source

Beutler Lab

Gene Symbol

Msto1

Ensembl Gene

ENSMUSG00000068922

Gene Name

misato 1, mitochondrial distribution and morphology regulator

Synonyms

MMRRC Submission

040420-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.920) question?

Stock #

R2516 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88816923-88821257 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 88819200 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] [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 null
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 null
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

Predicted Effect

probably null
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128988

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137243

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147828

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

98% (65/66)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,159,673 (GRCm39)	I6N	possibly damaging	Het
Aen	T	C	7: 78,555,616 (GRCm39)	V188A	probably damaging	Het
Afg3l1	A	G	8: 124,228,693 (GRCm39)	E753G	probably damaging	Het
Alas1	G	A	9: 106,115,859 (GRCm39)	T385I	probably damaging	Het
Alms1	C	A	6: 85,644,945 (GRCm39)		probably benign	Het
Ankrd65	A	G	4: 155,875,868 (GRCm39)	T30A	possibly damaging	Het
App	T	C	16: 84,775,117 (GRCm39)	S582G	probably damaging	Het
Arfgef1	A	T	1: 10,223,879 (GRCm39)	V1473E	possibly damaging	Het
Arhgap21	G	A	2: 20,859,809 (GRCm39)	P1196S	probably damaging	Het
Arhgap24	A	G	5: 103,039,776 (GRCm39)	T238A	probably benign	Het
Atf7	T	C	15: 102,437,439 (GRCm39)		probably benign	Het
Best1	G	T	19: 9,970,675 (GRCm39)	S55*	probably null	Het
Capn11	A	G	17: 45,944,725 (GRCm39)	V514A	probably damaging	Het
Cep104	T	A	4: 154,073,603 (GRCm39)	M52K	probably damaging	Het
Clca3a1	C	T	3: 144,443,619 (GRCm39)		probably null	Het
Cyp3a25	T	C	5: 145,939,837 (GRCm39)		probably null	Het
Dmxl2	G	A	9: 54,307,378 (GRCm39)	P2197S	probably damaging	Het
Drosha	T	C	15: 12,859,551 (GRCm39)		probably null	Het
Exosc9	A	G	3: 36,617,311 (GRCm39)	K355R	probably benign	Het
Fut1	A	C	7: 45,268,622 (GRCm39)	H192P	probably benign	Het
Gm572	T	A	4: 148,748,841 (GRCm39)	V166D	possibly damaging	Het
Gm9966	C	T	7: 95,607,735 (GRCm39)	P19S	unknown	Het
Gmds	C	T	13: 32,284,456 (GRCm39)	V219I	probably damaging	Het
Gsn	G	A	2: 35,173,965 (GRCm39)	E25K	probably benign	Het
Il4i1	T	C	7: 44,489,315 (GRCm39)	F368S	probably damaging	Het
Irak1bp1	T	C	9: 82,712,373 (GRCm39)	L98P	probably damaging	Het
Khdrbs3	T	C	15: 68,896,544 (GRCm39)		probably benign	Het
Kndc1	T	C	7: 139,501,738 (GRCm39)	I925T	probably damaging	Het
Laptm4a	T	C	12: 8,988,151 (GRCm39)	I296T	probably benign	Het
Lpl	A	T	8: 69,340,170 (GRCm39)	H55L	probably benign	Het
Lrrk2	C	A	15: 91,640,130 (GRCm39)	N1558K	probably benign	Het
Mfsd2a	A	G	4: 122,844,280 (GRCm39)	L289P	probably damaging	Het
Mmrn2	T	A	14: 34,120,759 (GRCm39)	M543K	probably benign	Het
Mnat1	T	C	12: 73,228,550 (GRCm39)		probably benign	Het
Mtus1	A	G	8: 41,535,776 (GRCm39)	Y647H	probably damaging	Het
Nars1	A	T	18: 64,638,087 (GRCm39)	V289E	probably damaging	Het
Oit3	T	A	10: 59,264,167 (GRCm39)	K322N	probably damaging	Het
Oit3	G	A	10: 59,277,507 (GRCm39)		probably benign	Het
Or4k1	T	C	14: 50,377,440 (GRCm39)	I219V	probably benign	Het
Or5b113	T	A	19: 13,342,557 (GRCm39)	C188*	probably null	Het
Or5m12	A	G	2: 85,734,900 (GRCm39)	I166T	probably benign	Het
Or6c211	G	A	10: 129,506,155 (GRCm39)	R78W	probably damaging	Het
Pecr	A	T	1: 72,316,469 (GRCm39)	C79S	probably damaging	Het
Plekhn1	T	C	4: 156,307,116 (GRCm39)	D478G	probably damaging	Het
Pls1	A	T	9: 95,658,616 (GRCm39)	M264K	probably benign	Het
Ptprj	C	A	2: 90,305,340 (GRCm39)		probably benign	Het
Pygm	A	G	19: 6,447,631 (GRCm39)	D646G	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Scn8a	T	C	15: 100,867,043 (GRCm39)	V283A	probably benign	Het
Shisa5	T	C	9: 108,885,575 (GRCm39)		probably null	Het
Slc10a4	A	G	5: 73,165,848 (GRCm39)	I246V	possibly damaging	Het
Slc1a1	A	T	19: 28,870,312 (GRCm39)	I104F	probably benign	Het
Slc22a8	A	G	19: 8,587,559 (GRCm39)	Y511C	probably benign	Het
Slc6a5	A	G	7: 49,606,210 (GRCm39)	N706S	probably benign	Het
Sos2	T	C	12: 69,697,433 (GRCm39)	K96E	probably damaging	Het
Stom	G	A	2: 35,205,977 (GRCm39)	R251*	probably null	Het
Sycp1	T	C	3: 102,752,382 (GRCm39)	E800G	probably benign	Het
Tab2	G	A	10: 7,783,245 (GRCm39)	P679L	probably damaging	Het
Tiam2	G	A	17: 3,503,657 (GRCm39)	V945I	probably damaging	Het
Trpm5	G	T	7: 142,628,254 (GRCm39)	P1007Q	probably damaging	Het
Uchl1	T	G	5: 66,839,956 (GRCm39)	I139S	probably damaging	Het
Vmn1r232	A	G	17: 21,134,288 (GRCm39)	I104T	possibly damaging	Het
Vmn2r97	G	A	17: 19,167,814 (GRCm39)	M689I	probably benign	Het
Zc3h18	A	T	8: 123,129,904 (GRCm39)		probably benign	Het
Zfhx4	C	T	3: 5,468,418 (GRCm39)	P2859S	probably benign	Het
Zfp456	T	C	13: 67,510,491 (GRCm39)	K99R	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
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
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

Predicted Primers

PCR Primer
(F):5'- TAGGACGAGGAGACTTTGTACCC -3'
(R):5'- AACAGCATCAAAGTCTGGTCAG -3'

Sequencing Primer
(F):5'- GAGGAGACTTTGTACCCCAACATC -3'
(R):5'- GGTCAGACTTCCTCAGAGTCC -3'

Posted On

2014-12-04