Mutagenetix > Incidental Mutation

Incidental Mutation 'R8015:Msto1'

617116

Institutional Source

Beutler Lab

Gene Symbol

Msto1

Ensembl Gene

ENSMUSG00000068922

Gene Name

misato 1, mitochondrial distribution and morphology regulator

Synonyms

MMRRC Submission

067455-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.920) question?

Stock #

R8015 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88816923-88821257 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 88818863 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 264 (P264Q)

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: P264Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103118
Gene: ENSMUSG00000068922
AA Change: P264Q

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: P251Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115645
Gene: ENSMUSG00000068922
AA Change: P251Q

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: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alad	A	G	4: 62,430,159 (GRCm39)	V121A	probably damaging	Het
Anapc2	T	A	2: 25,174,688 (GRCm39)	Y684N	probably benign	Het
Atp10a	G	T	7: 58,453,245 (GRCm39)	R808L	probably benign	Het
Best2	A	G	8: 85,735,983 (GRCm39)	V317A	probably damaging	Het
Bmal2	T	C	6: 146,722,088 (GRCm39)	S220P	probably damaging	Het
Cacnb4	A	G	2: 52,354,655 (GRCm39)	L241P	probably damaging	Het
Col6a5	T	C	9: 105,758,940 (GRCm39)	T2089A	possibly damaging	Het
Cttnbp2	G	C	6: 18,426,092 (GRCm39)	A762G	possibly damaging	Het
Defb13	G	T	8: 22,436,828 (GRCm39)	V8F	possibly damaging	Het
Dpp6	C	T	5: 27,022,808 (GRCm39)		probably benign	Het
Fat4	A	G	3: 39,036,065 (GRCm39)	D3239G	possibly damaging	Het
Hmcn1	T	G	1: 150,474,062 (GRCm39)	R4793S	possibly damaging	Het
Hspa1a	T	A	17: 35,189,625 (GRCm39)	Q426L	probably damaging	Het
Hycc2	A	G	1: 58,574,641 (GRCm39)	V300A	possibly damaging	Het
Il20rb	T	A	9: 100,356,947 (GRCm39)	Y61F	probably damaging	Het
Iqcn	C	T	8: 71,169,441 (GRCm39)	S1177L	probably benign	Het
Itgb1	T	A	8: 129,448,882 (GRCm39)	V496D	possibly damaging	Het
Jakmip1	T	C	5: 37,317,109 (GRCm39)	S102P	unknown	Het
Jmjd8	T	A	17: 26,048,302 (GRCm39)	F108I	probably damaging	Het
Krtap15-1	A	G	16: 88,626,097 (GRCm39)	T55A	possibly damaging	Het
Lce3d	A	T	3: 92,865,810 (GRCm39)		probably benign	Het
Lnpep	C	A	17: 17,766,761 (GRCm39)	V702F	probably damaging	Het
Lox	G	A	18: 52,661,420 (GRCm39)	A218V	probably benign	Het
Mcrs1	T	A	15: 99,146,735 (GRCm39)	K99*	probably null	Het
Mfsd8	G	A	3: 40,801,270 (GRCm39)		probably benign	Het
Nrp2	C	T	1: 62,784,567 (GRCm39)	R239C	probably damaging	Het
Or2ad1	T	C	13: 21,326,303 (GRCm39)	D308G	probably benign	Het
Or5g25	G	T	2: 85,478,136 (GRCm39)	H176Q	probably damaging	Het
Pate2	A	T	9: 35,581,814 (GRCm39)	H36L	probably damaging	Het
Pate9	A	G	9: 36,446,250 (GRCm39)	V54A	probably benign	Het
Phf20l1	T	G	15: 66,511,797 (GRCm39)	N925K	possibly damaging	Het
Pnliprp2	G	T	19: 58,754,714 (GRCm39)	V253F	probably damaging	Het
Polr2b	A	G	5: 77,484,353 (GRCm39)	D745G	probably damaging	Het
Ptdss1	T	A	13: 67,111,407 (GRCm39)	W158R	possibly damaging	Het
Rcn3	T	A	7: 44,734,331 (GRCm39)	I226F	probably damaging	Het
Rhbdl1	C	G	17: 26,054,825 (GRCm39)	V157L	probably damaging	Het
Slc30a2	A	G	4: 134,074,761 (GRCm39)	T173A	probably benign	Het
Spata16	A	G	3: 26,721,808 (GRCm39)	T110A	probably benign	Het
Specc1l	A	G	10: 75,076,902 (GRCm39)	K53E	probably benign	Het
Speg	G	T	1: 75,392,065 (GRCm39)		probably benign	Het
Spta1	T	A	1: 174,067,737 (GRCm39)	C2055S	probably damaging	Het
Tex14	G	A	11: 87,400,426 (GRCm39)	R406Q	probably benign	Het
Tmem150b	C	T	7: 4,719,327 (GRCm39)	G198S	probably null	Het
Tnfrsf14	T	G	4: 155,011,118 (GRCm39)	Q81P	probably damaging	Het
Txndc17	A	G	11: 72,098,568 (GRCm39)	K40R	probably benign	Het
Ube3a	T	A	7: 58,934,504 (GRCm39)	V560E	probably damaging	Het
Vmn1r14	A	G	6: 57,211,015 (GRCm39)	M198V	probably damaging	Het
Vmn2r23	G	A	6: 123,681,500 (GRCm39)	S136N	probably benign	Het
Vmn2r31	C	T	7: 7,387,199 (GRCm39)	V791I	probably damaging	Het
Wdfy4	T	C	14: 32,829,704 (GRCm39)	Y984C		Het
Zfp386	T	G	12: 116,023,027 (GRCm39)	D248E	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
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'- TATCCAGTCAGGTGCACCAG -3'
(R):5'- GACTACTTGCAGGTAGCTGTG -3'

Sequencing Primer
(F):5'- CAGACCAAATGCCGTGTTTAAG -3'
(R):5'- ATGTTGGGGTACAAAGTCTCCTC -3'

Posted On

2020-01-23