Incidental Mutation 'IGL01907:Mnat1'
| ID |
179696 |
| 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)
|
| Stock # |
IGL01907
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
73170491-73320762 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 73319213 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 279
(S279T)
|
| 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: S279T
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000021523
Gene: ENSMUSG00000021103
AA Change: S279T
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap1g1 |
T |
C |
8: 110,569,975 (GRCm39) |
|
probably benign |
Het |
| Asph |
A |
T |
4: 9,514,643 (GRCm39) |
D491E |
possibly damaging |
Het |
| Cyrib |
A |
G |
15: 63,803,535 (GRCm39) |
|
probably benign |
Het |
| D930020B18Rik |
A |
G |
10: 121,477,915 (GRCm39) |
N47D |
probably damaging |
Het |
| Gad1 |
T |
C |
2: 70,404,470 (GRCm39) |
V120A |
possibly damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm10717 |
A |
T |
9: 3,026,287 (GRCm39) |
Y195F |
probably damaging |
Het |
| Grin2b |
T |
G |
6: 135,710,738 (GRCm39) |
E936A |
probably damaging |
Het |
| Iars1 |
T |
C |
13: 49,863,131 (GRCm39) |
F528L |
probably damaging |
Het |
| Iyd |
C |
T |
10: 3,490,407 (GRCm39) |
P38S |
probably damaging |
Het |
| Krt24 |
A |
G |
11: 99,176,030 (GRCm39) |
F2L |
unknown |
Het |
| Mptx1 |
A |
T |
1: 174,160,212 (GRCm39) |
I173L |
probably benign |
Het |
| Or9g20 |
T |
A |
2: 85,629,946 (GRCm39) |
T223S |
probably benign |
Het |
| Per1 |
T |
C |
11: 68,996,425 (GRCm39) |
S810P |
probably benign |
Het |
| Racgap1 |
T |
A |
15: 99,524,214 (GRCm39) |
K398* |
probably null |
Het |
| Rnf133 |
T |
C |
6: 23,649,303 (GRCm39) |
N209D |
probably benign |
Het |
| Rp1 |
T |
C |
1: 4,418,730 (GRCm39) |
E794G |
possibly damaging |
Het |
| Ryr3 |
A |
T |
2: 112,699,346 (GRCm39) |
|
probably benign |
Het |
| Slc27a2 |
A |
G |
2: 126,429,794 (GRCm39) |
T465A |
probably benign |
Het |
| Smarca2 |
T |
C |
19: 26,675,865 (GRCm39) |
M1035T |
possibly damaging |
Het |
| Spink5 |
A |
G |
18: 44,129,743 (GRCm39) |
N445D |
probably damaging |
Het |
| Stard3nl |
G |
A |
13: 19,556,759 (GRCm39) |
A127V |
probably damaging |
Het |
| Trim69 |
C |
T |
2: 121,998,142 (GRCm39) |
T38M |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp438 |
G |
A |
18: 5,213,815 (GRCm39) |
A381V |
probably damaging |
Het |
|
| Other mutations in Mnat1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation