Incidental Mutation 'IGL02876:Mnat1'
ID 406232
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 # IGL02876
Quality Score
Status
Chromosome 12
Chromosomal Location 73170491-73320762 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 73217378 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 85 (R85G)
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: R85G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000021523
Gene: ENSMUSG00000021103
AA Change: R85G

DomainStartEndE-ValueType
RING 6 49 3.24e-4 SMART
Pfam:MAT1 53 250 2.1e-67 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000187549
AA Change: R85G

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000141036
Gene: ENSMUSG00000021103
AA Change: R85G

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm2 A G 4: 144,282,343 (GRCm39) Y150H probably damaging Het
Abcb5 A G 12: 118,883,576 (GRCm39) V564A probably damaging Het
Adamts15 A T 9: 30,815,818 (GRCm39) N679K probably damaging Het
Angpt1 T G 15: 42,290,373 (GRCm39) D497A possibly damaging Het
Asap2 A G 12: 21,308,164 (GRCm39) K849R probably benign Het
Aspm T C 1: 139,401,391 (GRCm39) V1137A probably damaging Het
Atp12a A G 14: 56,610,746 (GRCm39) I297V probably benign Het
Atp2a2 A G 5: 122,604,071 (GRCm39) V454A probably benign Het
Carmil1 T A 13: 24,338,651 (GRCm39) probably benign Het
Csmd2 A T 4: 128,215,128 (GRCm39) K517* probably null Het
Csmd3 A T 15: 47,469,492 (GRCm39) probably benign Het
Cyp2d11 T A 15: 82,273,697 (GRCm39) Q427L possibly damaging Het
Eml5 C T 12: 98,825,100 (GRCm39) V706M probably damaging Het
Entpd8 A C 2: 24,975,072 (GRCm39) S428R probably benign Het
Gm10283 T C 8: 60,954,253 (GRCm39) probably benign Het
Gpatch3 T A 4: 133,307,995 (GRCm39) V363E probably damaging Het
Hoxb5 T A 11: 96,194,594 (GRCm39) M52K probably damaging Het
Ift52 T C 2: 162,878,627 (GRCm39) V307A probably benign Het
Igkv1-115 T C 6: 68,138,424 (GRCm39) noncoding transcript Het
Kdm5a T C 6: 120,367,605 (GRCm39) probably benign Het
Lama1 T A 17: 68,057,687 (GRCm39) probably null Het
Lrp6 G A 6: 134,433,077 (GRCm39) P1418L probably benign Het
Mill2 T C 7: 18,590,432 (GRCm39) F156L probably damaging Het
Myrip A T 9: 120,261,740 (GRCm39) D451V probably damaging Het
Or1e1f A T 11: 73,855,539 (GRCm39) Y35F possibly damaging Het
Pdzph1 C A 17: 59,281,064 (GRCm39) S406I probably benign Het
Ptprb A G 10: 116,184,116 (GRCm39) probably benign Het
Rxfp4 T A 3: 88,559,742 (GRCm39) R236S possibly damaging Het
Ryr2 T C 13: 11,722,679 (GRCm39) M2604V probably benign Het
Setd1a G A 7: 127,377,673 (GRCm39) probably benign Het
Spata33 A T 8: 123,948,719 (GRCm39) H88L probably damaging Het
Spcs3 A T 8: 54,979,486 (GRCm39) N98K probably damaging Het
Srgap3 A G 6: 112,748,414 (GRCm39) S413P probably damaging Het
Stap2 T C 17: 56,306,961 (GRCm39) R239G probably benign Het
Surf6 A G 2: 26,782,638 (GRCm39) Y230H probably damaging Het
Tasp1 C T 2: 139,676,283 (GRCm39) V382M probably benign Het
Tnc G T 4: 63,933,338 (GRCm39) A642E possibly damaging Het
Vmn1r202 G A 13: 22,685,640 (GRCm39) T259I probably benign Het
Vmn2r110 T A 17: 20,794,558 (GRCm39) T704S probably damaging Het
Vtcn1 A T 3: 100,791,145 (GRCm39) D61V probably damaging Het
Zc3h12d G A 10: 7,738,364 (GRCm39) M223I probably damaging Het
Zfp592 T A 7: 80,687,875 (GRCm39) S934T probably benign Het
Other mutations in Mnat1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2016-08-02