Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01959:Mnat1'

182347

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mnat1

Ensembl Gene

ENSMUSG00000021103

Gene Name

menage a trois 1

Synonyms

E130115E11Rik, MAT1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01959

Quality Score

Status

Chromosome

Chromosomal Location

73170491-73320762 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 73228705 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141146 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021523] [ENSMUST00000187549] [ENSMUST00000189644]

AlphaFold

P51949

Predicted Effect

probably benign
Transcript: ENSMUST00000021523

SMART Domains

Protein: ENSMUSP00000021523
Gene: ENSMUSG00000021103

Domain	Start	End	E-Value	Type
RING	6	49	3.24e-4	SMART
Pfam:MAT1	53	250	2.1e-67	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000187549

SMART Domains

Protein: ENSMUSP00000141036
Gene: ENSMUSG00000021103

Domain	Start	End	E-Value	Type
RING	6	49	1.6e-6	SMART
Pfam:MAT1	53	238	1.7e-74	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000189644

SMART Domains

Protein: ENSMUSP00000141146
Gene: ENSMUSG00000021103

Domain	Start	End	E-Value	Type
RING	6	49	1.6e-6	SMART
Pfam:MAT1	53	90	4.2e-14	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene, along with cyclin H and CDK7, forms the CDK-activating kinase (CAK) enzymatic complex. This complex activates several cyclin-associated kinases and can also associate with TFIIH to activate transcription by RNA polymerase II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for disruption of this gene die as embryos at some point between implantation and gastrulation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230009I02Rik	T	C	11: 50,982,645 (GRCm39)		noncoding transcript	Het
Aip	A	G	19: 4,171,397 (GRCm39)	I13T	probably damaging	Het
Cacna2d1	C	T	5: 16,417,895 (GRCm39)	P140S	probably benign	Het
Cald1	A	G	6: 34,730,403 (GRCm39)	D40G	probably damaging	Het
Cep250	T	A	2: 155,825,279 (GRCm39)	V1052E	possibly damaging	Het
Chd1	A	G	17: 15,962,435 (GRCm39)	N731D	probably damaging	Het
Chml	C	T	1: 175,515,166 (GRCm39)	V252I	probably benign	Het
Cog8	T	C	8: 107,783,010 (GRCm39)	Y93C	probably damaging	Het
Creld1	G	A	6: 113,469,794 (GRCm39)	A399T	probably damaging	Het
Cyp2a4	T	A	7: 26,007,133 (GRCm39)	V80E	probably damaging	Het
Cyp2c37	T	A	19: 39,984,277 (GRCm39)	L255*	probably null	Het
Cyp2d12	C	A	15: 82,439,545 (GRCm39)		probably benign	Het
Dimt1	A	G	13: 107,089,963 (GRCm39)	I229V	probably benign	Het
Dsc1	G	A	18: 20,230,282 (GRCm39)	T341I	probably damaging	Het
Ercc3	T	A	18: 32,390,411 (GRCm39)	F567I	probably damaging	Het
Espl1	C	A	15: 102,214,097 (GRCm39)		probably benign	Het
Fcrl2	T	C	3: 87,166,939 (GRCm39)	D18G	probably damaging	Het
Fnip1	T	A	11: 54,381,738 (GRCm39)	S296R	possibly damaging	Het
Fzd5	C	A	1: 64,775,105 (GRCm39)	A219S	possibly damaging	Het
Gbp7	A	G	3: 142,247,108 (GRCm39)		probably benign	Het
Gm3298	T	C	14: 5,018,731 (GRCm38)	L162S	probably damaging	Het
Hspa1l	A	G	17: 35,196,111 (GRCm39)	E50G	probably damaging	Het
Ipo9	T	C	1: 135,348,093 (GRCm39)		probably null	Het
Kazn	A	G	4: 141,878,195 (GRCm39)	L185P	probably damaging	Het
Kcnh8	T	C	17: 53,141,635 (GRCm39)	S293P	probably damaging	Het
Lrp1b	T	C	2: 41,202,539 (GRCm39)	T1191A	probably damaging	Het
Msx2	C	T	13: 53,622,638 (GRCm39)		probably benign	Het
Ndufs2	T	G	1: 171,064,798 (GRCm39)	I317L	probably benign	Het
Nms	T	C	1: 38,981,006 (GRCm39)		probably benign	Het
Oosp3	T	A	19: 11,678,286 (GRCm39)	F87L	probably benign	Het
Pask	A	G	1: 93,262,329 (GRCm39)	V177A	probably benign	Het
Poldip2	G	T	11: 78,403,133 (GRCm39)		probably benign	Het
Prr14l	A	T	5: 32,987,549 (GRCm39)	S649T	possibly damaging	Het
Slc6a18	T	A	13: 73,825,984 (GRCm39)	N22I	probably damaging	Het
Smco2	T	A	6: 146,763,208 (GRCm39)	S228T	probably benign	Het
Speer4a1	G	A	5: 26,240,902 (GRCm39)	Q197*	probably null	Het
Speg	A	G	1: 75,367,734 (GRCm39)	K641R	probably damaging	Het
Strip2	G	A	6: 29,928,553 (GRCm39)	V286M	probably damaging	Het
Tnfrsf22	C	T	7: 143,197,012 (GRCm39)		probably null	Het
Tnpo3	A	G	6: 29,589,019 (GRCm39)		probably benign	Het
Top2b	T	A	14: 16,422,695 (GRCm38)	N1377K	probably benign	Het
Trmt1	T	A	8: 85,418,005 (GRCm39)		probably null	Het
Trpm1	A	G	7: 63,858,723 (GRCm39)	M266V	possibly damaging	Het
Vmn1r199	A	G	13: 22,567,290 (GRCm39)	T195A	probably benign	Het
Vmn2r10	A	G	5: 109,145,571 (GRCm39)	V512A	probably benign	Het
Zfp777	A	G	6: 48,021,275 (GRCm39)	F116L	probably benign	Het
Zp3r	T	A	1: 130,519,188 (GRCm39)	K253*	probably null	Het

Other mutations in Mnat1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01907:Mnat1	APN	12	73,319,213 (GRCm39)	missense	probably benign	0.01
IGL02491:Mnat1	APN	12	73,170,682 (GRCm39)	missense	probably null	0.83
IGL02876:Mnat1	APN	12	73,217,378 (GRCm39)	missense	probably damaging	0.98
R0312:Mnat1	UTSW	12	73,228,558 (GRCm39)	missense	possibly damaging	0.92
R0488:Mnat1	UTSW	12	73,217,413 (GRCm39)	missense	probably damaging	1.00
R0709:Mnat1	UTSW	12	73,234,962 (GRCm39)	missense	possibly damaging	0.92
R0846:Mnat1	UTSW	12	73,170,706 (GRCm39)	splice site	probably null
R1080:Mnat1	UTSW	12	73,319,292 (GRCm39)	missense	probably damaging	0.98
R1803:Mnat1	UTSW	12	73,226,007 (GRCm39)	nonsense	probably null
R2338:Mnat1	UTSW	12	73,265,917 (GRCm39)	critical splice donor site	probably null
R2516:Mnat1	UTSW	12	73,228,550 (GRCm39)	splice site	probably benign
R4414:Mnat1	UTSW	12	73,228,601 (GRCm39)	missense	probably damaging	0.99
R4957:Mnat1	UTSW	12	73,170,652 (GRCm39)	missense	probably damaging	1.00
R6323:Mnat1	UTSW	12	73,214,878 (GRCm39)	missense	probably damaging	1.00
R6738:Mnat1	UTSW	12	73,319,246 (GRCm39)	missense	probably benign	0.00
R6769:Mnat1	UTSW	12	73,319,196 (GRCm39)	missense	probably benign	0.00
R7002:Mnat1	UTSW	12	73,277,479 (GRCm39)	intron	probably benign
R7182:Mnat1	UTSW	12	73,277,452 (GRCm39)	nonsense	probably null
R7887:Mnat1	UTSW	12	73,234,965 (GRCm39)	missense	probably benign	0.45
R8118:Mnat1	UTSW	12	73,265,864 (GRCm39)	missense	probably benign
R9311:Mnat1	UTSW	12	73,214,916 (GRCm39)	missense	probably benign	0.04

Posted On

2014-05-07