Mutagenetix > Incidental Mutations

Incidental Mutation 'R7039:Msto1'

546920

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: 0.927) question?

Stock #

R7039 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88905107-88913999 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 88911390 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 287 (V287G)

Ref Sequence

ENSEMBL: ENSMUSP00000103118 (fasta)

Gene Model

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

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: V287G

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103118
Gene: ENSMUSG00000068922
AA Change: V287G

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

possibly damaging
Transcript: ENSMUST00000126245
AA Change: V274G

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000115645
Gene: ENSMUSG00000068922
AA Change: V274G

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: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	G	A	7: 28,140,148	R462Q	possibly damaging	Het
Actl7b	A	T	4: 56,741,022	L112Q	probably damaging	Het
Agap3	A	C	5: 24,483,401	I396L	probably benign	Het
AI987944	G	T	7: 41,374,456	S366R	probably benign	Het
Aox3	A	G	1: 58,176,555	T1049A	probably damaging	Het
Ap1g2	A	T	14: 55,102,654	L407*	probably null	Het
Baiap3	G	A	17: 25,243,840	R1075C	probably benign	Het
Brd3	T	C	2: 27,456,917	K402E	probably damaging	Het
Cc2d2b	A	T	19: 40,802,401	D935V	probably damaging	Het
Cenpe	A	G	3: 135,255,456	N1904D	probably benign	Het
Cfap74	G	T	4: 155,454,108		probably null	Het
Chrdl2	A	G	7: 100,028,672	T261A	probably damaging	Het
Cyp4a14	G	A	4: 115,491,081	R400C	probably benign	Het
Dhfr	G	A	13: 92,355,283	V9I	probably benign	Het
Epha4	A	G	1: 77,506,785	S196P	probably damaging	Het
Evc2	T	A	5: 37,421,888	L1115Q	probably damaging	Het
Fat3	T	A	9: 16,376,265	E654V	probably damaging	Het
Fer1l4	C	T	2: 156,036,730	V14I	probably benign	Het
Frmd5	A	T	2: 121,547,647		probably benign	Het
Helz	T	C	11: 107,619,318		probably null	Het
Igkv6-13	T	C	6: 70,457,514	S116G	probably benign	Het
Iscu	T	C	5: 113,776,772	V115A	possibly damaging	Het
Jade2	C	A	11: 51,828,359	K253N	probably damaging	Het
Katnal2	A	G	18: 77,047,172		probably null	Het
Kif13a	C	T	13: 46,752,455	V671M	possibly damaging	Het
Magi3	T	C	3: 104,051,383	D462G	probably damaging	Het
Map3k14	T	C	11: 103,221,035	N940S	probably damaging	Het
Masp2	A	T	4: 148,602,586	M1L	probably benign	Het
Mga	G	A	2: 119,932,678	V1272I	probably benign	Het
Mib2	T	C	4: 155,659,701	D168G	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083		probably null	Het
Myo5b	T	A	18: 74,701,528	D886E	probably benign	Het
Nek10	T	C	14: 14,826,946	I48T	possibly damaging	Het
Nek10	A	T	14: 14,986,700	R1013W	probably damaging	Het
Nipsnap3a	T	C	4: 53,000,130	V194A	probably damaging	Het
Nlrp9a	A	T	7: 26,567,942	T766S	probably benign	Het
Nol10	T	A	12: 17,429,184	S672T	possibly damaging	Het
Olfr1062	A	T	2: 86,422,833	I281K	possibly damaging	Het
Olfr1226	A	T	2: 89,193,446	I196N	probably damaging	Het
Olfr1253	A	T	2: 89,752,751	F26I	probably benign	Het
Olfr933	T	A	9: 38,975,987	F104I	probably damaging	Het
Patj	T	A	4: 98,569,078	N1272K	probably damaging	Het
Peak1	T	C	9: 56,257,809	E945G	probably benign	Het
Peg3	C	T	7: 6,717,859	D16N	probably damaging	Het
Pik3r4	T	G	9: 105,676,890	I1082M	possibly damaging	Het
Plekhg5	T	A	4: 152,107,785	M472K	possibly damaging	Het
Plekhm1	T	C	11: 103,395,228	D127G	probably damaging	Het
Ppfia4	G	A	1: 134,312,115	S908L	probably damaging	Het
Psmc3	A	G	2: 91,055,046	N60S	probably benign	Het
Rapgef1	T	A	2: 29,726,214	D697E	probably damaging	Het
Rapgef3	T	A	15: 97,761,568	H54L	probably benign	Het
Rhobtb3	G	A	13: 75,872,453	R577*	probably null	Het
Safb2	T	C	17: 56,564,594	E218G	possibly damaging	Het
Scaf1	C	T	7: 45,008,426	R343H	probably damaging	Het
Snx24	G	A	18: 53,340,235		probably null	Het
Tbc1d1	T	C	5: 64,284,757	F707L	probably benign	Het
Tcaf2	T	C	6: 42,626,140	T829A	probably damaging	Het
Tcea2	C	T	2: 181,686,918	Q248*	probably null	Het
Tcirg1	A	T	19: 3,896,666	L729Q	probably damaging	Het
Thap3	A	G	4: 151,985,692	F82L	probably damaging	Het
Ttk	T	A	9: 83,868,092	M700K	probably damaging	Het
Ubap2l	G	T	3: 90,002,355	P56H	probably damaging	Het
Ubr2	A	G	17: 47,010,213	S3P	probably benign	Het
Uchl3	C	T	14: 101,685,692		probably benign	Het
Vmn2r111	T	A	17: 22,548,184	E777D	probably damaging	Het
Vmn2r20	A	T	6: 123,386,123	D567E	probably damaging	Het
Vps13c	T	G	9: 67,937,763	L2043R	probably damaging	Het
Zan	T	G	5: 137,400,134	D4212A	unknown	Het
Zap70	C	T	1: 36,778,751	P278S	probably benign	Het
Zbtb8b	A	T	4: 129,427,685	M461K	possibly damaging	Het
Zfat	T	G	15: 68,180,362	I528L	probably benign	Het
Zfp532	T	G	18: 65,638,763	V784G	probably benign	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
R7399:Msto1	UTSW	3	88911823	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- TGCATGTGCTAGGCAACACAC -3'
(R):5'- CTACAAGACGAGTATGCAGGGC -3'

Sequencing Primer
(F):5'- CACACAGCCACAGGGAGTTG -3'
(R):5'- AGTCCTAACCTGGGGCCTG -3'

Posted On

2019-05-13