Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01985:Mtarc1'

181887

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mtarc1

Ensembl Gene

ENSMUSG00000026621

Gene Name

mitochondrial amidoxime reducing component 1

Synonyms

1300013F15Rik, Marc1, Mosc1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

IGL01985

Quality Score

Status

Chromosome

Chromosomal Location

184518964-184543510 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 184519931 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 230 (V230A)

Ref Sequence

ENSEMBL: ENSMUSP00000139716 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048462] [ENSMUST00000110992] [ENSMUST00000189492]

AlphaFold

Q9CW42

Predicted Effect

probably damaging
Transcript: ENSMUST00000048462
AA Change: V335A

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

SMART Domains

Protein: ENSMUSP00000035804
Gene: ENSMUSG00000026621
AA Change: V335A

Domain	Start	End	E-Value	Type
transmembrane domain	25	44	N/A	INTRINSIC
low complexity region	45	54	N/A	INTRINSIC
Pfam:MOSC_N	58	179	1e-39	PFAM
Pfam:MOSC	195	337	3e-30	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000110992
AA Change: V337A

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

SMART Domains

Protein: ENSMUSP00000106620
Gene: ENSMUSG00000026621
AA Change: V337A

Domain	Start	End	E-Value	Type
transmembrane domain	25	44	N/A	INTRINSIC
low complexity region	45	54	N/A	INTRINSIC
Pfam:MOSC_N	58	179	1.7e-40	PFAM
Pfam:MOSC	205	338	1.1e-28	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000189492
AA Change: V230A

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

SMART Domains

Protein: ENSMUSP00000139716
Gene: ENSMUSG00000026621
AA Change: V230A

Domain	Start	End	E-Value	Type
Pfam:MOSC_N	1	74	4.2e-15	PFAM
Pfam:MOSC	90	232	3.5e-28	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AAdacl4fm3	G	A	4: 144,442,024 (GRCm39)	Q76*	probably null	Het
Cass4	A	C	2: 172,269,126 (GRCm39)	S403R	probably damaging	Het
Ccdc175	A	T	12: 72,175,052 (GRCm39)	Y540*	probably null	Het
Cep164	C	T	9: 45,690,904 (GRCm39)	E1266K	probably damaging	Het
Clec12b	T	A	6: 129,359,334 (GRCm39)		probably benign	Het
Col6a5	T	C	9: 105,814,482 (GRCm39)	K510R	unknown	Het
Crisp4	G	A	1: 18,204,289 (GRCm39)	P101S	probably damaging	Het
Dapk1	T	C	13: 60,884,074 (GRCm39)	L614P	probably damaging	Het
Dip2c	T	C	13: 9,603,303 (GRCm39)		probably benign	Het
Dock7	A	G	4: 98,911,614 (GRCm39)	F589L	probably benign	Het
Dvl2	T	A	11: 69,899,119 (GRCm39)	V459E	probably damaging	Het
E2f6	T	C	12: 16,869,064 (GRCm39)		probably null	Het
Exph5	T	C	9: 53,287,869 (GRCm39)	L1650P	probably damaging	Het
Farp2	A	G	1: 93,535,324 (GRCm39)	Y691C	probably damaging	Het
Fshb	T	C	2: 106,889,173 (GRCm39)	T44A	probably benign	Het
Gm28044	T	A	13: 67,495,958 (GRCm39)	K28*	probably null	Het
Il12b	G	A	11: 44,298,881 (GRCm39)	W112*	probably null	Het
Ino80	T	C	2: 119,263,802 (GRCm39)	T621A	probably damaging	Het
Irx5	T	A	8: 93,086,155 (GRCm39)		probably benign	Het
Jmy	T	C	13: 93,596,144 (GRCm39)	H495R	possibly damaging	Het
Kif21a	A	T	15: 90,875,970 (GRCm39)	V321D	probably damaging	Het
Lrrc10	T	A	10: 116,881,921 (GRCm39)	D198E	probably damaging	Het
Lrsam1	T	C	2: 32,818,103 (GRCm39)	E651G	probably benign	Het
Mylk4	T	A	13: 32,901,564 (GRCm39)	I475L	possibly damaging	Het
Myom3	G	A	4: 135,493,013 (GRCm39)		probably null	Het
Or5ac19	A	T	16: 59,089,442 (GRCm39)	V196E	probably benign	Het
Pah	G	A	10: 87,414,844 (GRCm39)	V399M	probably damaging	Het
Pik3r4	G	A	9: 105,540,244 (GRCm39)	E711K	probably benign	Het
Rbbp6	A	G	7: 122,570,296 (GRCm39)	K38E	probably damaging	Het
Ror1	G	A	4: 100,283,161 (GRCm39)	V409M	possibly damaging	Het
Slc6a11	T	A	6: 114,111,853 (GRCm39)	V140D	probably benign	Het
Srebf2	G	T	15: 82,076,560 (GRCm39)	A737S	probably benign	Het
Tcerg1	A	G	18: 42,663,721 (GRCm39)	T303A	unknown	Het
Tmem74	A	T	15: 43,730,476 (GRCm39)	I189N	probably damaging	Het
Tnr	A	G	1: 159,746,607 (GRCm39)	D1242G	possibly damaging	Het
U2surp	A	T	9: 95,372,279 (GRCm39)	F293L	probably damaging	Het
Uchl5	G	A	1: 143,661,864 (GRCm39)		probably benign	Het
Usp34	T	A	11: 23,402,565 (GRCm39)	C2472S	probably damaging	Het
Usp42	G	A	5: 143,700,940 (GRCm39)	R1028W	probably damaging	Het
Vmn2r10	A	G	5: 109,154,125 (GRCm39)	S60P	probably benign	Het
Vmn2r31	G	T	7: 7,397,510 (GRCm39)	D249E	probably benign	Het
Vnn1	C	T	10: 23,776,642 (GRCm39)	T331I	probably benign	Het
Zmym6	G	T	4: 126,994,541 (GRCm39)	V232F	probably damaging	Het

Other mutations in Mtarc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01454:Mtarc1	APN	1	184,539,377 (GRCm39)	missense	probably damaging	1.00
E0370:Mtarc1	UTSW	1	184,527,425 (GRCm39)	splice site	probably benign
PIT1430001:Mtarc1	UTSW	1	184,539,246 (GRCm39)	missense	probably benign
PIT4366001:Mtarc1	UTSW	1	184,539,383 (GRCm39)	missense	probably benign	0.10
R1335:Mtarc1	UTSW	1	184,536,138 (GRCm39)	missense	probably benign	0.01
R1538:Mtarc1	UTSW	1	184,534,199 (GRCm39)	missense	probably damaging	0.99
R2139:Mtarc1	UTSW	1	184,527,632 (GRCm39)	missense	probably benign	0.17
R4591:Mtarc1	UTSW	1	184,539,365 (GRCm39)	missense	probably benign	0.10
R5642:Mtarc1	UTSW	1	184,543,116 (GRCm39)	missense	probably damaging	1.00
R6251:Mtarc1	UTSW	1	184,527,648 (GRCm39)	missense	probably damaging	1.00
R6370:Mtarc1	UTSW	1	184,527,689 (GRCm39)	missense	probably damaging	1.00
R7095:Mtarc1	UTSW	1	184,527,437 (GRCm39)	missense	probably damaging	1.00
R9416:Mtarc1	UTSW	1	184,527,633 (GRCm39)	missense	probably benign	0.01
Z1177:Mtarc1	UTSW	1	184,536,134 (GRCm39)	missense	possibly damaging	0.84

Posted On

2014-05-07