Incidental Mutation 'P0005:Mgat4f'
| ID |
7635 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mgat4f
|
| Ensembl Gene |
ENSMUSG00000050526 |
| Gene Name |
MGAT4 family, member F |
| Synonyms |
4933406M09Rik |
| MMRRC Submission |
038262-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
P0005 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
134313678-134318719 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 134315646 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 15
(M15K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124251
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000162187]
|
| AlphaFold |
G3XA12 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162187
AA Change: M15K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000124251
Gene: ENSMUSG00000050526
AA Change: M15K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_54
|
52 |
326 |
7.6e-79 |
PFAM |
|
low complexity region
|
395 |
405 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 85.5%
- 3x: 80.5%
- 10x: 66.1%
- 20x: 49.6%
|
| Validation Efficiency |
95% (104/109) |
| Allele List at MGI |
All alleles(6) : Targeted(2) Gene trapped(4)
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp13a1 |
T |
C |
8: 70,256,397 (GRCm39) |
V845A |
possibly damaging |
Het |
| Casp6 |
T |
C |
3: 129,705,792 (GRCm39) |
V153A |
probably benign |
Het |
| Col6a1 |
A |
G |
10: 76,553,163 (GRCm39) |
|
probably benign |
Het |
| Dars2 |
A |
G |
1: 160,881,509 (GRCm39) |
|
probably null |
Het |
| Hmgcll1 |
T |
A |
9: 75,982,041 (GRCm39) |
M162K |
possibly damaging |
Het |
| Hydin |
A |
T |
8: 111,220,921 (GRCm39) |
|
probably null |
Het |
| Ift74 |
A |
G |
4: 94,550,813 (GRCm39) |
|
probably benign |
Het |
| Itpr1 |
A |
T |
6: 108,358,218 (GRCm39) |
I595F |
probably damaging |
Het |
| Mmp17 |
T |
C |
5: 129,673,695 (GRCm39) |
V258A |
probably benign |
Het |
| Nek6 |
T |
C |
2: 38,459,749 (GRCm39) |
|
probably null |
Het |
| Nomo1 |
A |
T |
7: 45,686,981 (GRCm39) |
|
probably null |
Het |
| Nudt3 |
A |
G |
17: 27,815,689 (GRCm39) |
|
probably benign |
Het |
| Pramel32 |
A |
G |
4: 88,546,187 (GRCm39) |
L385P |
probably damaging |
Het |
| Prkg2 |
A |
C |
5: 99,117,806 (GRCm39) |
F512V |
probably damaging |
Het |
| Ptp4a3 |
T |
A |
15: 73,627,160 (GRCm39) |
D72E |
possibly damaging |
Het |
| Rpgrip1l |
A |
T |
8: 92,025,853 (GRCm39) |
|
probably benign |
Het |
| Rrp9 |
G |
A |
9: 106,358,376 (GRCm39) |
R101H |
probably benign |
Het |
| Slc7a6os |
T |
C |
8: 106,931,154 (GRCm39) |
I161V |
probably benign |
Het |
| Tex15 |
T |
C |
8: 34,060,896 (GRCm39) |
F109L |
probably benign |
Het |
| Tns2 |
A |
G |
15: 102,022,491 (GRCm39) |
Q1188R |
probably damaging |
Het |
|
| Other mutations in Mgat4f |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01554:Mgat4f
|
APN |
1 |
134,317,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01862:Mgat4f
|
APN |
1 |
134,318,349 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0498:Mgat4f
|
UTSW |
1 |
134,318,610 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0563:Mgat4f
|
UTSW |
1 |
134,317,777 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0731:Mgat4f
|
UTSW |
1 |
134,317,713 (GRCm39) |
missense |
probably benign |
|
|
R1558:Mgat4f
|
UTSW |
1 |
134,318,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2146:Mgat4f
|
UTSW |
1 |
134,318,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2148:Mgat4f
|
UTSW |
1 |
134,318,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2901:Mgat4f
|
UTSW |
1 |
134,318,662 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3897:Mgat4f
|
UTSW |
1 |
134,318,176 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4543:Mgat4f
|
UTSW |
1 |
134,317,531 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4937:Mgat4f
|
UTSW |
1 |
134,317,714 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5490:Mgat4f
|
UTSW |
1 |
134,317,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5684:Mgat4f
|
UTSW |
1 |
134,317,660 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5823:Mgat4f
|
UTSW |
1 |
134,318,655 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6488:Mgat4f
|
UTSW |
1 |
134,318,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7177:Mgat4f
|
UTSW |
1 |
134,318,163 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7201:Mgat4f
|
UTSW |
1 |
134,318,206 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7671:Mgat4f
|
UTSW |
1 |
134,317,800 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7749:Mgat4f
|
UTSW |
1 |
134,318,250 (GRCm39) |
missense |
probably benign |
0.45 |
|
R8385:Mgat4f
|
UTSW |
1 |
134,318,376 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9393:Mgat4f
|
UTSW |
1 |
134,318,596 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1177:Mgat4f
|
UTSW |
1 |
134,317,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-10-05 |
Incidental Mutation