Mutagenetix > Incidental Mutation

Incidental Mutation 'R4414:Mnat1'

328074

Institutional Source

Beutler Lab

Gene Symbol

Mnat1

Ensembl Gene

ENSMUSG00000021103

Gene Name

menage a trois 1

Synonyms

E130115E11Rik, MAT1

MMRRC Submission

041694-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4414 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73170491-73320762 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 73228601 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 155 (R155H)

Ref Sequence

ENSEMBL: ENSMUSP00000021523 (fasta)

Gene Model

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

AlphaFold

P51949

Predicted Effect

probably damaging
Transcript: ENSMUST00000021523
AA Change: R155H

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000021523
Gene: ENSMUSG00000021103
AA Change: R155H

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000187549
AA Change: R155H

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000141036
Gene: ENSMUSG00000021103
AA Change: R155H

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

100% (50/50)

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
4930503E14Rik	T	A	14: 44,406,690 (GRCm39)	M120L	probably benign	Het
Aco2	A	G	15: 81,773,584 (GRCm39)		probably null	Het
Acss1	A	G	2: 150,501,823 (GRCm39)	S115P	possibly damaging	Het
Ank2	A	T	3: 127,019,411 (GRCm39)		probably null	Het
AU041133	C	T	10: 81,987,316 (GRCm39)	T323M	probably damaging	Het
Bdp1	T	C	13: 100,167,369 (GRCm39)	D2215G	probably damaging	Het
Bod1l	G	A	5: 41,977,870 (GRCm39)	T1148I	probably benign	Het
Celsr1	C	T	15: 85,847,334 (GRCm39)	V1468I	probably benign	Het
Celsr1	A	G	15: 85,812,200 (GRCm39)	V2065A	probably damaging	Het
Cep89	A	G	7: 35,115,822 (GRCm39)		probably benign	Het
Cfap58	A	G	19: 47,941,480 (GRCm39)	K283E	possibly damaging	Het
Cog5	C	T	12: 31,710,853 (GRCm39)	Q78*	probably null	Het
Col20a1	C	T	2: 180,643,043 (GRCm39)	R796C	possibly damaging	Het
Dnah7b	A	T	1: 46,165,840 (GRCm39)	T502S	probably benign	Het
Dnm1l	A	G	16: 16,160,559 (GRCm39)		probably null	Het
Dse	A	T	10: 34,028,632 (GRCm39)	F819L	probably benign	Het
Eloa	G	T	4: 135,738,553 (GRCm39)	L136I	possibly damaging	Het
Eloa	T	A	4: 135,738,576 (GRCm39)	H128L	probably benign	Het
Fbxl6	T	C	15: 76,421,924 (GRCm39)	E205G	possibly damaging	Het
Golim4	T	G	3: 75,802,347 (GRCm39)	N287T	probably benign	Het
Gpx8	T	A	13: 113,179,682 (GRCm39)	K206N	possibly damaging	Het
Iqgap3	G	T	3: 88,004,293 (GRCm39)	V460F	probably benign	Het
Kcne4	A	T	1: 78,795,651 (GRCm39)	M100L	probably benign	Het
Kmt2a	A	T	9: 44,721,077 (GRCm39)		probably benign	Het
Ktn1	G	A	14: 47,962,387 (GRCm39)	W1117*	probably null	Het
Lad1	A	G	1: 135,756,484 (GRCm39)	D364G	probably benign	Het
Lmln	T	G	16: 32,930,220 (GRCm39)	I559S	probably benign	Het
Mapk4	A	T	18: 74,063,609 (GRCm39)	F538I	possibly damaging	Het
Mlxipl	A	G	5: 135,166,253 (GRCm39)		probably benign	Het
Mmrn1	T	C	6: 60,921,570 (GRCm39)	L9P	probably damaging	Het
Mtmr11	T	C	3: 96,075,207 (GRCm39)		probably benign	Het
Naaladl1	T	C	19: 6,165,581 (GRCm39)	L745P	probably damaging	Het
Obsl1	A	T	1: 75,467,546 (GRCm39)	D1409E	probably benign	Het
Oit3	T	C	10: 59,263,925 (GRCm39)	Y403C	probably damaging	Het
Pla2g4e	A	T	2: 120,013,194 (GRCm39)	H375Q	probably benign	Het
Prodh2	G	A	7: 30,205,877 (GRCm39)	V238M	probably damaging	Het
Rdh14	G	A	12: 10,441,231 (GRCm39)		probably null	Het
Rho	G	A	6: 115,912,191 (GRCm39)	V76I	probably benign	Het
Rock1	A	T	18: 10,080,514 (GRCm39)	M1010K	probably damaging	Het
Ros1	A	G	10: 52,038,800 (GRCm39)		probably null	Het
Sim1	A	T	10: 50,857,708 (GRCm39)	D486V	probably benign	Het
Spmip6	T	C	4: 41,505,574 (GRCm39)	T183A	possibly damaging	Het
Src	A	G	2: 157,306,573 (GRCm39)	D192G	probably damaging	Het
Stox1	T	C	10: 62,495,348 (GRCm39)	N975S	probably benign	Het
Tmem145	A	G	7: 25,006,554 (GRCm39)	Y54C	probably damaging	Het
Try4	C	T	6: 41,281,905 (GRCm39)	P164S	possibly damaging	Het
Vegfc	A	T	8: 54,634,130 (GRCm39)	N270Y	probably benign	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
IGL01959:Mnat1	APN	12	73,228,705 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- AGGATAGTAAGTGCACGCTC -3'
(R):5'- TCTGAACTGCTGTTAAACGCC -3'

Sequencing Primer
(F):5'- TAGTAAGTGCACGCTCACATG -3'
(R):5'- GAACTGCTGTTAAACGCCGTCTG -3'

Posted On

2015-07-07