Incidental Mutation 'IGL03306:Mthfd2l'
| ID |
416378 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mthfd2l
|
| Ensembl Gene |
ENSMUSG00000029376 |
| Gene Name |
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like |
| Synonyms |
C630010D07Rik, 1110019K23Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03306
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
91078976-91169227 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 91168067 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 321
(T321A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071578
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071652]
|
| AlphaFold |
D3YZG8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071652
AA Change: T321A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000071578
Gene: ENSMUSG00000029376
AA Change: T321A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
25 |
N/A |
INTRINSIC |
|
Pfam:THF_DHG_CYH
|
44 |
160 |
1.4e-40 |
PFAM |
|
Pfam:THF_DHG_CYH_C
|
163 |
337 |
4.5e-65 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(3) : Targeted, other(2) Gene trapped(1) |
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl1 |
T |
A |
7: 76,239,252 (GRCm39) |
F584Y |
probably damaging |
Het |
| Amer2 |
C |
A |
14: 60,616,001 (GRCm39) |
D65E |
probably damaging |
Het |
| Arhgap28 |
A |
T |
17: 68,159,930 (GRCm39) |
L623Q |
probably damaging |
Het |
| Cep152 |
T |
C |
2: 125,447,328 (GRCm39) |
T407A |
possibly damaging |
Het |
| Cmpk2 |
A |
G |
12: 26,521,442 (GRCm39) |
D238G |
possibly damaging |
Het |
| Fam169a |
C |
A |
13: 97,243,497 (GRCm39) |
Q176K |
possibly damaging |
Het |
| Fbxo17 |
T |
A |
7: 28,434,782 (GRCm39) |
I189N |
probably damaging |
Het |
| Gm5581 |
T |
A |
6: 131,145,044 (GRCm39) |
|
noncoding transcript |
Het |
| Gpcpd1 |
C |
T |
2: 132,375,993 (GRCm39) |
|
probably null |
Het |
| Lhx2 |
A |
G |
2: 38,244,628 (GRCm39) |
Y123C |
probably damaging |
Het |
| Llgl1 |
C |
A |
11: 60,602,180 (GRCm39) |
T741N |
possibly damaging |
Het |
| Macc1 |
A |
G |
12: 119,410,603 (GRCm39) |
Q457R |
probably benign |
Het |
| Myo6 |
T |
C |
9: 80,153,837 (GRCm39) |
F271S |
probably damaging |
Het |
| Ncoa6 |
A |
G |
2: 155,247,427 (GRCm39) |
V1959A |
probably benign |
Het |
| Npsr1 |
A |
G |
9: 24,224,535 (GRCm39) |
D304G |
probably benign |
Het |
| Nup205 |
T |
C |
6: 35,185,104 (GRCm39) |
V841A |
probably damaging |
Het |
| Or10c1 |
A |
G |
17: 37,522,568 (GRCm39) |
Y59H |
probably damaging |
Het |
| Or1j20 |
A |
T |
2: 36,760,537 (GRCm39) |
|
probably benign |
Het |
| Osbpl9 |
A |
G |
4: 109,029,529 (GRCm39) |
|
probably benign |
Het |
| Pdgfra |
A |
G |
5: 75,353,194 (GRCm39) |
N995D |
possibly damaging |
Het |
| Ptgs1 |
A |
T |
2: 36,127,717 (GRCm39) |
H92L |
probably damaging |
Het |
| Rasd1 |
T |
A |
11: 59,855,181 (GRCm39) |
I100F |
possibly damaging |
Het |
| Rbm26 |
T |
C |
14: 105,388,758 (GRCm39) |
T378A |
probably damaging |
Het |
| Slc12a3 |
T |
C |
8: 95,078,386 (GRCm39) |
S805P |
possibly damaging |
Het |
| Smarcal1 |
G |
A |
1: 72,665,625 (GRCm39) |
V708I |
probably benign |
Het |
| Strn |
A |
G |
17: 78,974,652 (GRCm39) |
S408P |
probably damaging |
Het |
| Suclg1 |
A |
G |
6: 73,247,975 (GRCm39) |
N232S |
probably benign |
Het |
| Tmbim1 |
A |
G |
1: 74,332,225 (GRCm39) |
Y101H |
probably damaging |
Het |
| Ube3a |
T |
A |
7: 58,935,895 (GRCm39) |
L614Q |
probably damaging |
Het |
| Wrn |
A |
G |
8: 33,826,149 (GRCm39) |
L171P |
probably damaging |
Het |
| Zfp335 |
T |
C |
2: 164,737,904 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Mthfd2l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01401:Mthfd2l
|
APN |
5 |
91,148,425 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
3-1:Mthfd2l
|
UTSW |
5 |
91,094,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0012:Mthfd2l
|
UTSW |
5 |
91,109,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0012:Mthfd2l
|
UTSW |
5 |
91,109,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0457:Mthfd2l
|
UTSW |
5 |
91,168,065 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0458:Mthfd2l
|
UTSW |
5 |
91,168,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0744:Mthfd2l
|
UTSW |
5 |
91,094,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0833:Mthfd2l
|
UTSW |
5 |
91,094,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1771:Mthfd2l
|
UTSW |
5 |
91,122,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2226:Mthfd2l
|
UTSW |
5 |
91,096,693 (GRCm39) |
nonsense |
probably null |
|
|
R4679:Mthfd2l
|
UTSW |
5 |
91,096,770 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4771:Mthfd2l
|
UTSW |
5 |
91,096,727 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5437:Mthfd2l
|
UTSW |
5 |
91,096,757 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R7008:Mthfd2l
|
UTSW |
5 |
91,107,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7198:Mthfd2l
|
UTSW |
5 |
91,094,705 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7654:Mthfd2l
|
UTSW |
5 |
91,094,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8018:Mthfd2l
|
UTSW |
5 |
91,107,672 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9352:Mthfd2l
|
UTSW |
5 |
91,109,172 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9625:Mthfd2l
|
UTSW |
5 |
91,107,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation