Mutagenetix > Incidental Mutation

Incidental Mutation 'R0709:Mnat1'

216235

Institutional Source

Beutler Lab

Gene Symbol

Mnat1

Ensembl Gene

ENSMUSG00000021103

Gene Name

menage a trois 1

Synonyms

MAT1, E130115E11Rik

MMRRC Submission

038892-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0709 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

73123717-73273988 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73188188 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 204 (R204G)

Ref Sequence

ENSEMBL: ENSMUSP00000141036 (fasta)

Gene Model

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

AlphaFold

P51949

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021523
AA Change: R204G

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000021523
Gene: ENSMUSG00000021103
AA Change: R204G

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: R204G

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000141036
Gene: ENSMUSG00000021103
AA Change: R204G

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

0.5126

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.8%

Validation Efficiency

98% (83/85)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	A	T	16: 14,618,494	D137V	probably damaging	Het
Aar2	C	T	2: 156,567,010	P378L	probably damaging	Het
Abcc5	A	T	16: 20,376,592	H718Q	possibly damaging	Het
Ace	G	T	11: 105,981,538	L319F	probably damaging	Het
Angpt4	C	A	2: 151,934,514	P321T	possibly damaging	Het
Atrip	T	C	9: 109,067,103	N282S	probably benign	Het
AW554918	A	C	18: 25,463,654	S525R	probably damaging	Het
Casc4	T	A	2: 121,867,425	V74E	probably damaging	Het
Ccdc136	T	A	6: 29,414,970	I644N	possibly damaging	Het
Ccdc178	A	G	18: 22,067,662	Y413H	probably damaging	Het
Ccdc7b	A	G	8: 129,136,646	H223R	probably benign	Het
Cd109	T	C	9: 78,671,978	V634A	possibly damaging	Het
Col7a1	T	A	9: 108,961,548		probably benign	Het
Copb2	A	T	9: 98,563,167		probably benign	Het
Csrnp3	C	T	2: 66,022,563	S445L	probably damaging	Het
Cxcl13	G	T	5: 95,958,671	C34F	probably damaging	Het
Dars2	T	C	1: 161,046,928	E397G	probably benign	Het
Dlg5	C	T	14: 24,146,255	V1625M	probably damaging	Het
Dnah12	T	G	14: 26,884,265		probably benign	Het
Eif4a1	C	A	11: 69,670,252	A76S	probably damaging	Het
Fam162b	T	A	10: 51,587,251	I107L	probably damaging	Het
Fbxo30	G	T	10: 11,291,313	C593F	possibly damaging	Het
Fut9	A	G	4: 25,620,359	F152L	probably damaging	Het
Galnt2	G	A	8: 124,343,346	G534D	probably benign	Het
Gm973	C	T	1: 59,558,234		probably benign	Het
Gprc5a	T	A	6: 135,078,950	S132T	probably damaging	Het
Hk3	G	A	13: 55,014,730	R47C	probably damaging	Het
Hrnr	A	T	3: 93,332,508	Q3351L	unknown	Het
Icam1	T	A	9: 21,019,127	F92L	probably damaging	Het
Ifi213	C	T	1: 173,589,800	V349I	possibly damaging	Het
Il12rb2	T	C	6: 67,298,904		probably benign	Het
Irx3	A	G	8: 91,799,420	V487A	possibly damaging	Het
Kalrn	A	G	16: 34,035,554	V204A	probably damaging	Het
Krt16	T	C	11: 100,246,454		probably benign	Het
Loxhd1	G	A	18: 77,404,969	V1369I	probably benign	Het
Med13	T	A	11: 86,319,596	K573N	possibly damaging	Het
Myt1l	A	T	12: 29,827,733	D461V	unknown	Het
Nek6	T	A	2: 38,557,846	S41T	probably damaging	Het
Nudt22	T	C	19: 6,993,506	E232G	probably damaging	Het
Numbl	C	A	7: 27,273,990	F192L	probably damaging	Het
Olfr1202	C	T	2: 88,817,882	T237I	probably benign	Het
Olfr834	T	A	9: 18,988,126	I46K	probably damaging	Het
P2rx4	T	C	5: 122,714,404	V47A	probably damaging	Het
Phka1	T	A	X: 102,586,104	I478F	probably damaging	Het
Pkn2	G	A	3: 142,830,520	T200I	probably damaging	Het
Plcg1	T	A	2: 160,751,778		probably null	Het
Polg2	C	T	11: 106,768,413	G425R	probably damaging	Het
Ptprm	G	T	17: 66,944,332		probably null	Het
Reg1	G	A	6: 78,428,118	R108H	possibly damaging	Het
Slc19a2	T	A	1: 164,256,798	F86I	probably damaging	Het
Slc26a11	T	C	11: 119,374,777	L372P	probably damaging	Het
Slc2a4	C	T	11: 69,946,159	V28M	possibly damaging	Het
Snap29	A	G	16: 17,406,148	N9S	probably damaging	Het
Snd1	C	G	6: 28,545,470		probably benign	Het
Sorcs3	G	A	19: 48,487,406	A235T	probably benign	Het
Sp100	T	A	1: 85,694,281	N362K	probably damaging	Het
Sqor	A	T	2: 122,799,855	I32F	probably benign	Het
Stx6	C	T	1: 155,193,294	R189C	probably damaging	Het
Tchp	T	C	5: 114,717,453	I298T	probably damaging	Het
Themis	A	G	10: 28,761,574	I225V	probably benign	Het
Timm50	A	T	7: 28,306,941	V245E	probably damaging	Het
Tnxb	A	G	17: 34,689,354	E1327G	probably damaging	Het
Tpp1	C	T	7: 105,749,607	R205H	probably benign	Het
Tradd	T	C	8: 105,260,644	E10G	possibly damaging	Het
Trim43a	G	A	9: 88,582,146	E37K	probably benign	Het
Ttn	T	C	2: 76,899,403		probably benign	Het
Ttr	A	T	18: 20,669,977		probably null	Het
Ubp1	A	G	9: 113,944,931	Y66C	probably damaging	Het
Vmn2r102	A	T	17: 19,677,619	M299L	probably benign	Het
Vmn2r104	A	T	17: 20,042,904	N98K	probably damaging	Het
Yipf5	A	G	18: 40,207,772	S176P	probably benign	Het
Zpbp2	C	T	11: 98,553,937	T97I	probably damaging	Het

Other mutations in Mnat1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01907:Mnat1	APN	12	73272439	missense	probably benign	0.01
IGL01959:Mnat1	APN	12	73181931	splice site	probably benign
IGL02491:Mnat1	APN	12	73123908	missense	probably null	0.83
IGL02876:Mnat1	APN	12	73170604	missense	probably damaging	0.98
R0312:Mnat1	UTSW	12	73181784	missense	possibly damaging	0.92
R0488:Mnat1	UTSW	12	73170639	missense	probably damaging	1.00
R0846:Mnat1	UTSW	12	73123932	splice site	probably null
R1080:Mnat1	UTSW	12	73272518	missense	probably damaging	0.98
R1803:Mnat1	UTSW	12	73179233	nonsense	probably null
R2338:Mnat1	UTSW	12	73219143	critical splice donor site	probably null
R2516:Mnat1	UTSW	12	73181776	splice site	probably benign
R4414:Mnat1	UTSW	12	73181827	missense	probably damaging	0.99
R4957:Mnat1	UTSW	12	73123878	missense	probably damaging	1.00
R6323:Mnat1	UTSW	12	73168104	missense	probably damaging	1.00
R6738:Mnat1	UTSW	12	73272472	missense	probably benign	0.00
R6769:Mnat1	UTSW	12	73272422	missense	probably benign	0.00
R7002:Mnat1	UTSW	12	73230705	intron	probably benign
R7182:Mnat1	UTSW	12	73230678	nonsense	probably null
R7887:Mnat1	UTSW	12	73188191	missense	probably benign	0.45
R8118:Mnat1	UTSW	12	73219090	missense	probably benign
R9311:Mnat1	UTSW	12	73168142	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TTGGTGGCTAGATGAAATAGGACCCT -3'
(R):5'- CCACTGCTCCACTTTACACCAGTAGAT -3'

Sequencing Primer
(F):5'- AGAGGCCTACTTTGAAAGCG -3'
(R):5'- caagaccctacatctcatctcc -3'

Posted On

2014-07-31