Incidental Mutation 'R6323:Mnat1'
ID 510214
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 # R6323 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 73123717-73273988 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 73168104 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 65 (D65G)
Ref Sequence ENSEMBL: ENSMUSP00000141146 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021523] [ENSMUST00000187549] [ENSMUST00000189644]
AlphaFold P51949
Predicted Effect probably damaging
Transcript: ENSMUST00000021523
AA Change: D65G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021523
Gene: ENSMUSG00000021103
AA Change: D65G

DomainStartEndE-ValueType
RING 6 49 3.24e-4 SMART
Pfam:MAT1 53 250 2.1e-67 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000187549
AA Change: D65G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141036
Gene: ENSMUSG00000021103
AA Change: D65G

DomainStartEndE-ValueType
RING 6 49 1.6e-6 SMART
Pfam:MAT1 53 238 1.7e-74 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000189644
AA Change: D65G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141146
Gene: ENSMUSG00000021103
AA Change: D65G

DomainStartEndE-ValueType
RING 6 49 1.6e-6 SMART
Pfam:MAT1 53 90 4.2e-14 PFAM
Meta Mutation Damage Score 0.9575 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 98% (40/41)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932415D10Rik G A 10: 82,283,082 T4698I probably benign Het
4933409G03Rik A G 2: 68,606,224 T171A unknown Het
Akr1c6 A G 13: 4,447,018 K153R possibly damaging Het
Ano1 T A 7: 144,611,686 I601F possibly damaging Het
Arfgef2 A G 2: 166,834,484 Y8C probably damaging Het
Arhgef4 G A 1: 34,723,477 A605T unknown Het
Atp1a2 C G 1: 172,289,336 R238P probably damaging Het
Baz2a A G 10: 128,126,417 I1816V probably benign Het
Cadps2 T A 6: 23,263,578 T1294S probably benign Het
Casz1 T C 4: 148,941,704 S952P possibly damaging Het
Cdc20 T C 4: 118,435,564 N329S probably damaging Het
Ceacam1 A C 7: 25,474,651 L193R probably damaging Het
Celf5 A G 10: 81,469,503 S143P probably damaging Het
Cfap74 A G 4: 155,463,938 D1342G possibly damaging Het
Chd5 C A 4: 152,367,334 T701K probably damaging Het
Cpt1b C A 15: 89,419,063 M596I probably benign Het
Ctrb1 A G 8: 111,689,591 V21A probably benign Het
Diaph3 C T 14: 86,966,453 V579I probably benign Het
Dlc1 T C 8: 36,938,383 E84G possibly damaging Het
Dnajc14 A G 10: 128,807,490 E427G probably damaging Het
Galns T C 8: 122,598,651 D254G probably damaging Het
Gpn3 C T 5: 122,372,575 probably benign Het
Gstm1 A G 3: 108,017,747 V10A probably benign Het
Krt13 C A 11: 100,121,150 A116S probably damaging Het
Lars2 A T 9: 123,441,594 K584* probably null Het
Lrrc43 G T 5: 123,503,886 G600W probably damaging Het
Madd G T 2: 91,161,438 probably null Het
Nsmf A G 2: 25,055,051 N42S possibly damaging Het
Olfr1283 T C 2: 111,368,701 L23P possibly damaging Het
Olfr198 A G 16: 59,202,282 L48P probably damaging Het
Palld A T 8: 61,720,693 W311R probably damaging Het
Pax1 T A 2: 147,368,401 V352E probably damaging Het
Rnf2 T C 1: 151,473,216 K51R probably damaging Het
Rpl7l1 C A 17: 46,782,638 probably benign Het
Slc17a2 A G 13: 23,814,986 I121V probably benign Het
Slc1a6 G A 10: 78,812,887 G481S probably damaging Het
Trav6-1 T C 14: 52,638,791 V56A possibly damaging Het
Vmn2r111 T C 17: 22,559,051 N549S possibly damaging Het
Vmn2r79 T A 7: 87,001,314 C103S probably benign Het
Wwp2 A T 8: 107,540,671 H305L probably damaging Het
Zfp593 A G 4: 134,244,913 V94A probably benign 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
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'- GTCACATTCATGAGCCTTCTTG -3'
(R):5'- CAAACTGACACTTAAATGTTGCCTC -3'

Sequencing Primer
(F):5'- ACATTCATGAGCCTTCTTGTTTAAC -3'
(R):5'- GACACTTAAATGTTGCCTCTTTAGTC -3'
Posted On 2018-04-02