Incidental Mutation 'R7887:Mnat1'
ID 609128
Institutional Source Beutler Lab
Gene Symbol Mnat1
Ensembl Gene ENSMUSG00000021103
Gene Name menage a trois 1
Synonyms MAT1, E130115E11Rik
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7887 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 73123717-73273988 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 73188191 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 205 (S205T)
Ref Sequence ENSEMBL: ENSMUSP00000021523 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021523] [ENSMUST00000187549] [ENSMUST00000189644]
AlphaFold P51949
Predicted Effect probably benign
Transcript: ENSMUST00000021523
AA Change: S205T

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000021523
Gene: ENSMUSG00000021103
AA Change: S205T

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: S205T

PolyPhen 2 Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000141036
Gene: ENSMUSG00000021103
AA Change: S205T

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 98% (48/49)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alkbh8 T A 9: 3,385,343 I580N probably damaging Het
Ankrd35 C T 3: 96,684,900 T834M probably damaging Het
Astn2 C T 4: 65,644,866 V893I possibly damaging Het
B4galt1 A G 4: 40,823,501 Y197H probably benign Het
Brdt T C 5: 107,359,933 S676P possibly damaging Het
Chrdl2 T C 7: 100,029,250 V343A possibly damaging Het
Clcn3 A T 8: 60,941,399 M59K probably benign Het
Cpne4 A T 9: 105,032,791 N529I probably damaging Het
Crcp G T 5: 130,037,870 K32N possibly damaging Het
Ddx54 C T 5: 120,627,203 R846C probably damaging Het
Dennd6a T C 14: 26,599,657 S118P possibly damaging Het
Egr3 A G 14: 70,079,202 Y116C probably damaging Het
Fbxw25 A G 9: 109,649,594 probably null Het
Focad T G 4: 88,182,616 I313M probably damaging Het
Gm10272 C T 10: 77,706,945 P107L probably benign Het
Gpr26 A C 7: 131,966,973 I16L probably benign Het
Gpr39 C A 1: 125,677,542 T69K probably damaging Het
Hacl1 C T 14: 31,634,227 G97S probably damaging Het
Idh3b A C 2: 130,281,758 D136E probably damaging Het
Irf6 G A 1: 193,167,732 V321M probably damaging Het
Klrg2 T A 6: 38,636,571 T166S probably damaging Het
Lnx2 T C 5: 147,019,043 I648V probably damaging Het
Mecr A G 4: 131,860,866 probably null Het
Mpnd G A 17: 56,011,097 G204D probably benign Het
Myh7 C T 14: 54,983,662 E935K possibly damaging Het
Nid1 G T 13: 13,499,733 R899L possibly damaging Het
Nisch C T 14: 31,176,695 W664* probably null Het
Nudt6 C T 3: 37,412,380 V157I possibly damaging Het
Olfr1156 T C 2: 87,949,880 M118V probably damaging Het
Olfr573-ps1 A C 7: 102,942,151 L142R possibly damaging Het
Olfr949-ps1 A T 9: 39,364,879 M107L unknown Het
Onecut2 T A 18: 64,340,975 M180K possibly damaging Het
Parg T A 14: 32,217,662 D548E possibly damaging Het
Pclo GTCTAT GTCTATTCTAT 5: 14,714,190 probably null Het
Phf11d A G 14: 59,359,580 Y57H probably damaging Het
Prkaca T C 8: 83,986,895 V99A probably benign Het
Rnf144b T A 13: 47,239,811 C209S probably damaging Het
Scly G A 1: 91,300,641 probably null Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,819,695 probably benign Het
Sphkap T C 1: 83,277,412 Y872C probably benign Het
Ssh1 C T 5: 113,961,349 probably null Het
Strap T G 6: 137,739,809 L129V possibly damaging Het
Sympk T C 7: 19,034,439 I111T possibly damaging Het
Tprn C A 2: 25,264,012 A442E probably damaging Het
Tsen34 T C 7: 3,694,708 L36P probably damaging Het
Ubr4 T C 4: 139,407,810 F818L probably damaging Het
Uggt1 T C 1: 36,208,034 Y294C probably damaging Het
Usp20 A G 2: 31,020,894 K862E probably benign Het
Vmn1r201 A T 13: 22,474,786 I57F probably damaging Het
Wdr64 C T 1: 175,785,545 A662V not run Het
Other mutations in Mnat1
AlleleSourceChrCoordTypePredicted EffectPPH 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
R0709:Mnat1 UTSW 12 73188188 missense possibly damaging 0.92
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
R8118:Mnat1 UTSW 12 73219090 missense probably benign
R9311:Mnat1 UTSW 12 73168142 missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- TGGCTAGATGAAATAGGACCCTAC -3'
(R):5'- TGAGAAGTACTGCTTTCCACTCTC -3'

Sequencing Primer
(F):5'- AGGACCCTACTATAGTCTCTTTAATG -3'
(R):5'- TCTATATTTCCAGACATCTAACCCAG -3'
Posted On 2019-12-20