Incidental Mutation 'R2901:Mgat4f'
| ID |
261457 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mgat4f
|
| Ensembl Gene |
ENSMUSG00000050526 |
| Gene Name |
MGAT4 family, member F |
| Synonyms |
4933406M09Rik |
| MMRRC Submission |
040489-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2901 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
134313678-134318719 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 134318662 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 478
(L478P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124251
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000162187]
|
| AlphaFold |
G3XA12 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162187
AA Change: L478P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124251
Gene: ENSMUSG00000050526
AA Change: L478P
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
All alleles(6) : Targeted(2) Gene trapped(4)
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd13 |
T |
A |
8: 10,038,231 (GRCm39) |
M276K |
probably damaging |
Het |
| Angpt4 |
G |
T |
2: 151,753,259 (GRCm39) |
C3F |
unknown |
Het |
| C1qtnf1 |
A |
G |
11: 118,338,930 (GRCm39) |
|
probably null |
Het |
| Cep192 |
C |
T |
18: 68,002,512 (GRCm39) |
R2236C |
possibly damaging |
Het |
| Cep68 |
A |
G |
11: 20,190,187 (GRCm39) |
L275P |
probably damaging |
Het |
| Clvs1 |
A |
G |
4: 9,281,972 (GRCm39) |
K139E |
probably damaging |
Het |
| Col25a1 |
A |
T |
3: 130,340,040 (GRCm39) |
E351V |
probably damaging |
Het |
| Dnah7a |
A |
T |
1: 53,467,031 (GRCm39) |
L3611Q |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Gm3336 |
T |
C |
8: 71,173,275 (GRCm39) |
S96P |
possibly damaging |
Het |
| Gm9845 |
T |
A |
3: 39,412,742 (GRCm39) |
|
noncoding transcript |
Het |
| Klf12 |
G |
T |
14: 100,137,582 (GRCm39) |
F321L |
probably damaging |
Het |
| Klhl20 |
G |
T |
1: 160,937,122 (GRCm39) |
C84* |
probably null |
Het |
| Krt23 |
T |
C |
11: 99,374,797 (GRCm39) |
D260G |
probably damaging |
Het |
| Lpin1 |
T |
C |
12: 16,603,999 (GRCm39) |
K578E |
probably benign |
Het |
| Mrc1 |
A |
G |
2: 14,333,354 (GRCm39) |
H1345R |
possibly damaging |
Het |
| Nme8 |
A |
T |
13: 19,859,834 (GRCm39) |
V23E |
probably benign |
Het |
| Or10w1 |
C |
T |
19: 13,632,309 (GRCm39) |
P167L |
probably damaging |
Het |
| Or8g34 |
T |
A |
9: 39,373,234 (GRCm39) |
I169N |
probably damaging |
Het |
| Prf1 |
A |
T |
10: 61,136,098 (GRCm39) |
N125Y |
probably damaging |
Het |
| Ptp4a1 |
T |
C |
1: 30,982,385 (GRCm39) |
N142D |
possibly damaging |
Het |
| Simc1 |
G |
A |
13: 54,689,331 (GRCm39) |
|
probably null |
Het |
| Snai2 |
T |
C |
16: 14,523,847 (GRCm39) |
S4P |
possibly damaging |
Het |
| Ssc4d |
G |
A |
5: 135,993,517 (GRCm39) |
P113L |
possibly damaging |
Het |
| Stmn2 |
A |
G |
3: 8,606,981 (GRCm39) |
I34V |
probably benign |
Het |
| Tspoap1 |
C |
T |
11: 87,668,801 (GRCm39) |
P1358L |
probably benign |
Het |
| Ubr3 |
T |
C |
2: 69,846,536 (GRCm39) |
S1620P |
possibly damaging |
Het |
| Vps51 |
G |
A |
19: 6,126,468 (GRCm39) |
R95W |
probably damaging |
Het |
| Zup1 |
C |
T |
10: 33,803,608 (GRCm39) |
R492Q |
probably damaging |
Het |
| Zup1 |
T |
C |
10: 33,804,059 (GRCm39) |
T472A |
probably benign |
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 |
|
P0005:Mgat4f
|
UTSW |
1 |
134,315,646 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGACCATTGGTGAGAGGTC -3'
(R):5'- AGCTCTCCTGACTACACAGCTC -3'
Sequencing Primer
(F):5'- ACCATTGGTGAGAGGTCAGTTG -3'
(R):5'- ACAGGCCGATCTTACAGAGGTTC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation