Incidental Mutation 'R1080:Mnat1'
| ID |
85833 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mnat1
|
| Ensembl Gene |
ENSMUSG00000021103 |
| Gene Name |
menage a trois 1 |
| Synonyms |
E130115E11Rik, MAT1 |
| MMRRC Submission |
039166-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1080 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
73170491-73320762 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 73319292 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 305
(F305S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021523
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021523]
[ENSMUST00000189644]
|
| AlphaFold |
P51949 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021523
AA Change: F305S
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000021523
Gene: ENSMUSG00000021103
AA Change: F305S
| 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 |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.2%
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
A |
G |
7: 27,265,109 (GRCm39) |
N87S |
probably benign |
Het |
| Agbl3 |
A |
T |
6: 34,805,170 (GRCm39) |
N679I |
probably benign |
Het |
| Akp3 |
T |
A |
1: 87,054,723 (GRCm39) |
F353I |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 37,042,404 (GRCm39) |
T2797A |
probably damaging |
Het |
| Calu |
A |
G |
6: 29,366,919 (GRCm39) |
T44A |
possibly damaging |
Het |
| Cd180 |
G |
A |
13: 102,842,728 (GRCm39) |
W591* |
probably null |
Het |
| Cnbd2 |
A |
G |
2: 156,181,193 (GRCm39) |
N209S |
probably benign |
Het |
| Fam120a |
G |
T |
13: 49,039,219 (GRCm39) |
A979E |
possibly damaging |
Het |
| Fam136b-ps |
T |
C |
15: 31,276,739 (GRCm39) |
|
probably benign |
Het |
| Fbln5 |
A |
T |
12: 101,717,131 (GRCm39) |
M419K |
possibly damaging |
Het |
| Galr1 |
A |
C |
18: 82,423,632 (GRCm39) |
I215S |
probably damaging |
Het |
| Kcnma1 |
G |
C |
14: 23,544,675 (GRCm39) |
Q436E |
probably damaging |
Het |
| Khsrp |
GTCATT |
GT |
17: 57,331,410 (GRCm39) |
|
probably null |
Het |
| Klhdc8b |
T |
C |
9: 108,326,837 (GRCm39) |
N175S |
probably benign |
Het |
| Lrrk2 |
T |
C |
15: 91,557,892 (GRCm39) |
V76A |
probably benign |
Het |
| Nck2 |
T |
C |
1: 43,572,741 (GRCm39) |
V5A |
probably benign |
Het |
| Nkd1 |
T |
A |
8: 89,318,647 (GRCm39) |
M428K |
probably benign |
Het |
| Or4e5 |
A |
T |
14: 52,728,042 (GRCm39) |
Y43* |
probably null |
Het |
| Pcdh7 |
T |
C |
5: 57,876,768 (GRCm39) |
C108R |
probably damaging |
Het |
| Rtf2 |
G |
T |
2: 172,310,666 (GRCm39) |
W299L |
probably damaging |
Het |
| Smtn |
C |
A |
11: 3,467,693 (GRCm39) |
R942L |
probably damaging |
Het |
| Svil |
C |
T |
18: 5,058,147 (GRCm39) |
P265S |
possibly damaging |
Het |
| Tdrd3 |
T |
C |
14: 87,743,834 (GRCm39) |
L588P |
probably benign |
Het |
| Tecpr1 |
A |
G |
5: 144,153,747 (GRCm39) |
Y169H |
probably damaging |
Het |
| Tktl2 |
G |
A |
8: 66,964,999 (GRCm39) |
V186M |
probably damaging |
Het |
| Tmprss2 |
G |
A |
16: 97,392,698 (GRCm39) |
S83L |
probably benign |
Het |
| Tut4 |
A |
G |
4: 108,336,696 (GRCm39) |
E140G |
possibly damaging |
Het |
| Vmn2r112 |
T |
C |
17: 22,837,980 (GRCm39) |
S814P |
probably damaging |
Het |
| Zfp386 |
T |
A |
12: 116,023,426 (GRCm39) |
C381* |
probably null |
Het |
| Zfp809 |
T |
G |
9: 22,146,405 (GRCm39) |
D31E |
probably damaging |
Het |
| Zfy2 |
T |
A |
Y: 2,121,645 (GRCm39) |
T83S |
probably benign |
Het |
| Zswim6 |
A |
G |
13: 107,924,186 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Mnat1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAGAATGTCACTGGCTTACGG -3'
(R):5'- ACGGCCTGCTGCTAAGATGAAAC -3'
Sequencing Primer
(F):5'- GGCTTACGGTCTTCAAATCAATGG -3'
(R):5'- ATGCAACACATTTCTCAGCTTGG -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation