Mutagenetix > Incidental Mutation

Incidental Mutation 'R7399:Msto1'

574008

Institutional Source

Beutler Lab

Gene Symbol

Msto1

Ensembl Gene

ENSMUSG00000068922

Gene Name

misato 1, mitochondrial distribution and morphology regulator

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.942) question?

Stock #

R7399 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88905107-88913999 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88911823 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 206 (Y206H)

Ref Sequence

ENSEMBL: ENSMUSP00000103118 (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 damaging
Transcript: ENSMUST00000107494
AA Change: Y206H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000103118
Gene: ENSMUSG00000068922
AA Change: Y206H

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 damaging
Transcript: ENSMUST00000126245
AA Change: Y193H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000115645
Gene: ENSMUSG00000068922
AA Change: Y193H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (74/75)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	G	11: 84,260,679	V801G	possibly damaging	Het
Actbl2	T	A	13: 111,255,593	M154K	probably benign	Het
Adam7	A	T	14: 68,504,466		probably null	Het
Arfgef1	T	A	1: 10,180,897	T888S	probably benign	Het
AW554918	C	T	18: 25,169,060	P10L	possibly damaging	Het
Bcap29	A	G	12: 31,630,882	I35T	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,664,857	254	probably null	Het
C87499	C	A	4: 88,627,965	R380L	probably benign	Het
Cdc25b	A	G	2: 131,194,654	D458G	probably damaging	Het
Cdc42bpb	T	C	12: 111,305,667	K1104R	probably benign	Het
Cep89	A	G	7: 35,438,378	N729S	probably damaging	Het
Clec4a4	T	A	6: 122,991,829	M51K	possibly damaging	Het
Dcdc2b	A	G	4: 129,609,629	L270P	probably damaging	Het
Dennd5b	G	T	6: 149,036,483	H639N	probably damaging	Het
Dnah11	T	G	12: 118,027,477	T2385P	probably benign	Het
Dnah11	T	C	12: 118,125,785	E1182G	probably damaging	Het
Dok7	T	C	5: 35,066,471	V81A	probably damaging	Het
Dtx1	T	A	5: 120,682,393	M494L	possibly damaging	Het
Foxj1	A	T	11: 116,332,254	L241Q	possibly damaging	Het
Gbp10	G	A	5: 105,236,149		probably benign	Het
Hnmt	T	A	2: 24,003,880	T201S	probably benign	Het
Jup	G	T	11: 100,378,351	T412K	possibly damaging	Het
Kcnh2	G	A	5: 24,322,059	S954F	probably damaging	Het
Klhdc7b	A	C	15: 89,388,644	K585T	possibly damaging	Het
Klk7	T	A	7: 43,812,000	S14T	probably benign	Het
Lama4	G	A	10: 39,047,948	E451K	probably damaging	Het
Ldhb	A	G	6: 142,495,673	C164R	probably damaging	Het
Malrd1	G	A	2: 15,610,090	D239N		Het
Mgam	T	A	6: 40,666,854	V572E	probably damaging	Het
Mrgprb2	G	T	7: 48,552,142	N278K	probably damaging	Het
Myo6	A	G	9: 80,262,291	S467G	unknown	Het
Mysm1	T	A	4: 94,961,727	I447L	probably benign	Het
Nav3	T	C	10: 109,852,934	E494G	possibly damaging	Het
Nol10	T	G	12: 17,402,173	V376G	probably damaging	Het
Nup205	T	A	6: 35,214,676	I1032N	probably damaging	Het
Olfr1002	T	A	2: 85,647,424	D299V	possibly damaging	Het
Olfr1100	G	A	2: 86,978,157	T213I	probably benign	Het
Olfr1170	A	T	2: 88,225,022	Y3*	probably null	Het
Olfr1450	A	G	19: 12,954,447	N286S	probably damaging	Het
Olfr449	T	G	6: 42,838,746	Y288*	probably null	Het
Olfr455	A	G	6: 42,538,728	F98S	possibly damaging	Het
Olfr617	A	T	7: 103,584,381	I120L	possibly damaging	Het
Olfr782	A	T	10: 129,350,557		probably benign	Het
Olfr996	A	G	2: 85,579,296	D19G	probably benign	Het
Oog2	A	G	4: 144,195,281	K254E	probably benign	Het
Osbpl11	T	A	16: 33,236,279	D694E	probably benign	Het
Pcm1	T	A	8: 41,293,510	Y1210N	probably benign	Het
Pdxk	T	C	10: 78,440,863	M293V	probably benign	Het
Plcb3	T	C	19: 6,962,867	I451V	probably benign	Het
Plekhm2	A	G	4: 141,634,376	F272S	probably damaging	Het
Ptgdr	A	T	14: 44,858,232		probably null	Het
Ptprf	C	T	4: 118,226,523	V788I	probably benign	Het
Ralbp1	C	T	17: 65,854,148	V467I	probably benign	Het
Ralgds	A	C	2: 28,543,655	Q229P	possibly damaging	Het
Recql	T	C	6: 142,374,884	D146G	probably damaging	Het
Reln	T	C	5: 22,051,367	N493S	probably damaging	Het
Rfxank	C	T	8: 70,135,286		probably null	Het
Scn5a	A	T	9: 119,486,530	M1704K	probably damaging	Het
Slc7a7	G	T	14: 54,374,268	A316E	possibly damaging	Het
Slco1a6	A	T	6: 142,091,068	C538S	probably benign	Het
Spert	A	G	14: 75,592,637	S39P	probably benign	Het
Stard6	T	C	18: 70,498,647		probably null	Het
Strip2	T	A	6: 29,927,613	M219K	possibly damaging	Het
Tcam1	T	C	11: 106,284,085	V122A	probably damaging	Het
Tha1	A	G	11: 117,869,690	V236A	possibly damaging	Het
Tmem201	A	T	4: 149,731,097	I132N	possibly damaging	Het
Tnc	T	C	4: 64,020,657		probably benign	Het
Vmn1r42	T	C	6: 89,845,513	T25A	probably benign	Het
Vmn2r94	T	A	17: 18,244,503		probably null	Het
Wdfy4	A	C	14: 33,068,906	V2188G		Het
Zfp623	T	C	15: 75,947,398	S68P	probably damaging	Het
Zfp950	A	T	19: 61,119,155	C497S	probably damaging	Het
Zkscan2	C	T	7: 123,480,104	E877K	probably damaging	Het
Zp3r	C	A	1: 130,577,053	V536L	probably damaging	Het

Other mutations in Msto1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01307:Msto1	APN	3	88913686	missense	probably benign	0.12
IGL01309:Msto1	APN	3	88913686	missense	probably benign	0.12
IGL01327:Msto1	APN	3	88910632	splice site	probably null
IGL01505:Msto1	APN	3	88910743	missense	probably benign	0.00
IGL01914:Msto1	APN	3	88912903	missense	probably benign	0.39
IGL02292:Msto1	APN	3	88911824	missense	probably benign	0.20
IGL02349:Msto1	APN	3	88910898	missense	possibly damaging	0.95
IGL02510:Msto1	APN	3	88910345	missense	probably damaging	1.00
IGL03120:Msto1	APN	3	88910809	missense	probably damaging	1.00
R0041:Msto1	UTSW	3	88910235	missense	probably damaging	0.97
R0110:Msto1	UTSW	3	88911541	missense	probably benign	0.02
R0282:Msto1	UTSW	3	88911577	missense	possibly damaging	0.91
R0384:Msto1	UTSW	3	88910339	nonsense	probably null
R0450:Msto1	UTSW	3	88911541	missense	probably benign	0.02
R0469:Msto1	UTSW	3	88911541	missense	probably benign	0.02
R0510:Msto1	UTSW	3	88911541	missense	probably benign	0.02
R2088:Msto1	UTSW	3	88910990	missense	probably damaging	1.00
R2516:Msto1	UTSW	3	88911893	splice site	probably null
R4897:Msto1	UTSW	3	88912252	missense	probably benign	0.02
R5661:Msto1	UTSW	3	88912885	missense	possibly damaging	0.66
R6179:Msto1	UTSW	3	88910947	missense	probably damaging	1.00
R6326:Msto1	UTSW	3	88912098	missense	probably damaging	1.00
R6395:Msto1	UTSW	3	88905474	missense	possibly damaging	0.77
R7039:Msto1	UTSW	3	88911390	missense	probably damaging	0.96
R7557:Msto1	UTSW	3	88910128	critical splice donor site	probably null
R7583:Msto1	UTSW	3	88912929	critical splice acceptor site	probably null
R7620:Msto1	UTSW	3	88911307	missense	possibly damaging	0.87
R7993:Msto1	UTSW	3	88910174	missense	probably benign	0.17
R8015:Msto1	UTSW	3	88911556	missense	probably damaging	1.00
R8235:Msto1	UTSW	3	88912921	missense	probably damaging	1.00
R8693:Msto1	UTSW	3	88911877	missense	probably benign	0.02
R9071:Msto1	UTSW	3	88905107	unclassified	probably benign
R9246:Msto1	UTSW	3	88912104	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGTAGCTCTGCAGTTTTAGCAC -3'
(R):5'- TGAGGCAAAGCTTAGGTCAC -3'

Sequencing Primer
(F):5'- GCAGTTTTAGCACCTACTCCAGAG -3'
(R):5'- TTAGGTCACCCCAACACTGG -3'

Posted On

2019-09-13