Incidental Mutation 'R6769:Mnat1'
ID 532096
Institutional Source Beutler Lab
Gene Symbol Mnat1
Ensembl Gene ENSMUSG00000021103
Gene Name menage a trois 1
Synonyms E130115E11Rik, MAT1
MMRRC Submission 044885-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6769 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 73170491-73320762 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 73319196 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 273 (N273S)
Ref Sequence ENSEMBL: ENSMUSP00000021523 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021523] [ENSMUST00000189644]
AlphaFold P51949
Predicted Effect probably benign
Transcript: ENSMUST00000021523
AA Change: N273S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000021523
Gene: ENSMUSG00000021103
AA Change: N273S

DomainStartEndE-ValueType
RING 6 49 3.24e-4 SMART
Pfam:MAT1 53 250 2.1e-67 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
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 95.9%
Validation Efficiency 98% (39/40)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd8 G T 8: 71,914,105 (GRCm39) H174Q probably damaging Het
Alox5 C A 6: 116,392,145 (GRCm39) probably null Het
Amer3 C A 1: 34,627,330 (GRCm39) A523D possibly damaging Het
Apoa4 G A 9: 46,154,465 (GRCm39) M355I probably benign Het
Atp10b T C 11: 43,094,079 (GRCm39) probably null Het
Atp9a A T 2: 168,516,820 (GRCm39) Y340N probably damaging Het
C1rb T G 6: 124,554,364 (GRCm39) S382A probably benign Het
Csmd1 A G 8: 16,121,408 (GRCm39) V1763A possibly damaging Het
Ctnnd1 C A 2: 84,450,269 (GRCm39) R317L probably damaging Het
Ctnnd1 A T 2: 84,450,454 (GRCm39) D255E probably damaging Het
Dipk1b A G 2: 26,524,875 (GRCm39) R92G probably benign Het
Dmxl2 A T 9: 54,323,808 (GRCm39) I1192N probably damaging Het
Efcab5 A G 11: 76,996,258 (GRCm39) V1101A probably damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Flg T C 3: 93,195,630 (GRCm39) probably benign Het
Fras1 A G 5: 96,746,800 (GRCm39) I623M possibly damaging Het
Gm7361 T A 5: 26,462,767 (GRCm39) L3* probably null Het
Gpr35 T A 1: 92,910,426 (GRCm39) M46K probably damaging Het
Ighv2-9 A T 12: 113,842,930 (GRCm39) F46I possibly damaging Het
Kdm4b C T 17: 56,658,754 (GRCm39) A33V possibly damaging Het
Klhl5 T A 5: 65,321,995 (GRCm39) Y534N probably damaging Het
Mccc1 C T 3: 36,043,992 (GRCm39) probably null Het
Memo1 A T 17: 74,508,273 (GRCm39) F270L probably damaging Het
Niban2 C T 2: 32,785,666 (GRCm39) Het
Nxpe3 C A 16: 55,686,471 (GRCm39) G179V probably damaging Het
Or5b120 T A 19: 13,480,318 (GRCm39) F204I possibly damaging Het
Otp A G 13: 95,012,294 (GRCm39) D6G probably damaging Het
Prdm5 T A 6: 65,839,920 (GRCm39) I265K probably damaging Het
Ptpn4 T A 1: 119,643,698 (GRCm39) N350I probably benign Het
Rassf10 A G 7: 112,553,635 (GRCm39) M79V probably benign Het
Rassf4 T A 6: 116,618,433 (GRCm39) D215V possibly damaging Het
Rbm12 A T 2: 155,939,375 (GRCm39) I299N possibly damaging Het
Scfd2 T C 5: 74,692,117 (GRCm39) H55R probably benign Het
Scn8a A G 15: 100,933,445 (GRCm39) N1550D probably benign Het
Skic2 G A 17: 35,064,166 (GRCm39) R507* probably null Het
Slc30a5 A C 13: 100,950,368 (GRCm39) S240A probably benign Het
Slc7a4 A G 16: 17,393,184 (GRCm39) V205A possibly damaging Het
Syde2 G A 3: 145,704,803 (GRCm39) G318E probably damaging Het
Ttn T A 2: 76,538,883 (GRCm39) D34649V possibly damaging Het
Vmn2r83 T A 10: 79,313,856 (GRCm39) S155T probably damaging 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
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
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'- AACTTAGTAGTAGTTGGGCAATCC -3'
(R):5'- GCTTGGTCCAGACTGCAATAAAC -3'

Sequencing Primer
(F):5'- CCATATATATGTGTGTGTGAACCTG -3'
(R):5'- GGGGCTGGAACTTTACAAACCTC -3'
Posted On 2018-08-29