Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01327:Msto1'

74330

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: 0.928) question?

Stock #

IGL01327

Quality Score

Status

Chromosome

Chromosomal Location

88816923-88821257 bp(-) (GRCm39)

Type of Mutation

splice site (529 bp from exon)

DNA Base Change (assembly)

T to A at 88817939 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103122 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
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

noncoding transcript
Transcript: ENSMUST00000083302

Predicted Effect

probably null
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: H425L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000103118
Gene: ENSMUSG00000068922
AA Change: H425L

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 null
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: H412L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000115645
Gene: ENSMUSG00000068922
AA Change: H412L

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: ENSMUST00000147828

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137243

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	A	4: 148,029,521 (GRCm39)	V497E	probably damaging	Het
Adcy7	T	G	8: 89,045,418 (GRCm39)		probably benign	Het
Aldh1a2	T	A	9: 71,193,248 (GRCm39)	F486I	possibly damaging	Het
Alox12	T	A	11: 70,145,375 (GRCm39)	H66L	probably benign	Het
Apoh	T	G	11: 108,288,187 (GRCm39)	Y102D	probably damaging	Het
Arl9	T	C	5: 77,154,401 (GRCm39)	V43A	possibly damaging	Het
Atf6	A	G	1: 170,616,175 (GRCm39)		probably null	Het
Atp4a	T	A	7: 30,412,675 (GRCm39)	I127N	possibly damaging	Het
AY358078	T	A	14: 52,043,166 (GRCm39)		probably benign	Het
Baat	T	G	4: 49,490,338 (GRCm39)	K249Q	probably damaging	Het
Brat1	C	T	5: 140,703,963 (GRCm39)	Q739*	probably null	Het
C8g	A	G	2: 25,389,089 (GRCm39)	F165L	probably damaging	Het
Cel	T	G	2: 28,447,967 (GRCm39)	D353A	possibly damaging	Het
Col6a1	G	T	10: 76,546,813 (GRCm39)	T803K	unknown	Het
Cpxm1	A	G	2: 130,238,277 (GRCm39)	L95P	probably benign	Het
Ctsr	A	G	13: 61,310,489 (GRCm39)		probably benign	Het
Cyth1	A	G	11: 118,084,439 (GRCm39)		probably null	Het
Dync1h1	A	T	12: 110,583,126 (GRCm39)		probably benign	Het
Ezh1	C	T	11: 101,094,262 (GRCm39)	C407Y	probably damaging	Het
Fam243	T	C	16: 92,117,661 (GRCm39)	Y209C	probably benign	Het
Gm3696	A	T	14: 18,435,903 (GRCm39)	W38R	probably benign	Het
Gm9611	T	C	14: 42,116,622 (GRCm39)	T39A	possibly damaging	Het
Gnpat	T	A	8: 125,605,372 (GRCm39)	L287H	probably damaging	Het
Golm1	G	T	13: 59,792,958 (GRCm39)	N182K	possibly damaging	Het
Hdac6	T	C	X: 7,798,013 (GRCm39)	M899V	probably benign	Het
Hsf3	T	A	X: 95,358,578 (GRCm39)	M272L	probably benign	Het
Kif19a	C	T	11: 114,672,625 (GRCm39)		probably benign	Het
Lcn2	T	G	2: 32,276,030 (GRCm39)	Y100S	possibly damaging	Het
Lrrc8d	T	A	5: 105,960,131 (GRCm39)	S180R	probably damaging	Het
Ly6h	A	G	15: 75,436,948 (GRCm39)		probably benign	Het
Macf1	T	C	4: 123,403,705 (GRCm39)	N705D	probably benign	Het
Mst1r	C	T	9: 107,785,043 (GRCm39)	P234S	probably benign	Het
Myo5a	T	A	9: 75,094,820 (GRCm39)		probably benign	Het
Nipa1	T	C	7: 55,629,409 (GRCm39)	I235V	probably benign	Het
Nlgn3	T	C	X: 100,362,228 (GRCm39)	V399A	probably benign	Het
Or1d2	T	A	11: 74,255,738 (GRCm39)	M81K	possibly damaging	Het
Or2b28	A	G	13: 21,531,377 (GRCm39)	N93S	probably benign	Het
Pih1d1	T	C	7: 44,809,399 (GRCm39)	S289P	probably benign	Het
Ppl	T	C	16: 4,905,508 (GRCm39)	N1596D	probably benign	Het
Psmb6	T	A	11: 70,417,412 (GRCm39)	S114R	possibly damaging	Het
Pum1	C	A	4: 130,457,854 (GRCm39)	Q289K	probably damaging	Het
Shkbp1	T	C	7: 27,054,676 (GRCm39)	I75V	probably benign	Het
Slc24a3	T	A	2: 145,444,478 (GRCm39)	I284N	probably benign	Het
Slc44a3	C	T	3: 121,320,842 (GRCm39)	G53D	probably damaging	Het
Slc9a4	A	C	1: 40,668,565 (GRCm39)	D736A	probably benign	Het
Stra6	A	G	9: 58,059,854 (GRCm39)	D605G	probably benign	Het
Tas2r126	T	A	6: 42,411,684 (GRCm39)	H72Q	probably benign	Het
Tbrg1	C	T	9: 37,564,408 (GRCm39)	R166Q	probably benign	Het
Thumpd1	C	T	7: 119,319,925 (GRCm39)	G14R	probably benign	Het
Ticrr	C	T	7: 79,344,209 (GRCm39)	T1358I	probably benign	Het
Tmtc2	A	T	10: 105,184,340 (GRCm39)	N518K	probably benign	Het
Trpm4	C	A	7: 44,964,497 (GRCm39)	W533C	probably damaging	Het
Tsen54	T	C	11: 115,712,538 (GRCm39)	Y119H	possibly damaging	Het
Tulp3	G	A	6: 128,304,597 (GRCm39)	T219M	probably damaging	Het
Usp19	T	C	9: 108,376,160 (GRCm39)	L1000S	possibly damaging	Het
Vps16	A	T	2: 130,279,616 (GRCm39)	Y43F	probably benign	Het
Vsig1	T	A	X: 139,838,429 (GRCm39)	V283E	possibly 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
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
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

2013-10-07