Incidental Mutation 'R3897:Mgat4f'
ID |
309001 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mgat4f
|
Ensembl Gene |
ENSMUSG00000050526 |
Gene Name |
MGAT4 family, member F |
Synonyms |
4933406M09Rik |
MMRRC Submission |
040808-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3897 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
134313678-134318719 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 134318176 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 316
(D316G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124251
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000162187]
|
AlphaFold |
G3XA12 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162187
AA Change: D316G
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000124251 Gene: ENSMUSG00000050526 AA Change: D316G
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 |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.4%
|
Validation Efficiency |
97% (35/36) |
Allele List at MGI |
All alleles(6) : Targeted(2) Gene trapped(4)
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam15 |
T |
C |
3: 89,254,245 (GRCm39) |
H184R |
probably benign |
Het |
Ap1g1 |
A |
G |
8: 110,581,631 (GRCm39) |
D633G |
probably damaging |
Het |
Arhgef28 |
C |
T |
13: 98,093,084 (GRCm39) |
R999H |
probably damaging |
Het |
Armc3 |
T |
C |
2: 19,273,988 (GRCm39) |
S341P |
probably damaging |
Het |
Cmya5 |
T |
C |
13: 93,233,189 (GRCm39) |
E633G |
possibly damaging |
Het |
Colgalt1 |
G |
A |
8: 72,072,306 (GRCm39) |
M275I |
probably damaging |
Het |
Commd7 |
T |
C |
2: 153,464,710 (GRCm39) |
T23A |
probably benign |
Het |
Cts3 |
A |
G |
13: 61,712,800 (GRCm39) |
Y307H |
probably benign |
Het |
Dlgap4 |
C |
A |
2: 156,587,989 (GRCm39) |
P89Q |
probably damaging |
Het |
Ecm1 |
A |
G |
3: 95,643,298 (GRCm39) |
L334P |
probably damaging |
Het |
Fzd8 |
G |
A |
18: 9,214,939 (GRCm39) |
V674I |
possibly damaging |
Het |
Gosr2 |
A |
G |
11: 103,588,472 (GRCm39) |
Y5H |
possibly damaging |
Het |
Gria4 |
T |
A |
9: 4,513,260 (GRCm39) |
D283V |
probably damaging |
Het |
Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
Iqcm |
C |
T |
8: 76,480,028 (GRCm39) |
R329C |
probably damaging |
Het |
Kdm4b |
T |
C |
17: 56,703,955 (GRCm39) |
C233R |
probably damaging |
Het |
Ltbp1 |
T |
C |
17: 75,581,011 (GRCm39) |
C391R |
probably damaging |
Het |
Man2b1 |
G |
T |
8: 85,823,577 (GRCm39) |
|
probably benign |
Het |
Nisch |
A |
G |
14: 30,912,957 (GRCm39) |
|
probably benign |
Het |
Nrxn2 |
T |
G |
19: 6,569,287 (GRCm39) |
D1394E |
probably damaging |
Het |
Or4c12 |
T |
C |
2: 89,774,153 (GRCm39) |
E102G |
probably benign |
Het |
Or4k77 |
T |
C |
2: 111,199,106 (GRCm39) |
L43P |
possibly damaging |
Het |
Pabpc6 |
T |
C |
17: 9,888,056 (GRCm39) |
D165G |
probably benign |
Het |
Psat1 |
A |
G |
19: 15,896,817 (GRCm39) |
|
probably null |
Het |
Psd |
A |
C |
19: 46,313,024 (GRCm39) |
N115K |
possibly damaging |
Het |
Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
Rnf144a |
A |
G |
12: 26,360,712 (GRCm39) |
V275A |
probably damaging |
Het |
Slc35b3 |
A |
G |
13: 39,118,739 (GRCm39) |
F356L |
probably benign |
Het |
Tmc4 |
A |
G |
7: 3,674,087 (GRCm39) |
V364A |
probably benign |
Het |
Tmem203 |
T |
C |
2: 25,145,935 (GRCm39) |
F85S |
probably benign |
Het |
Tra2a |
T |
C |
6: 49,222,476 (GRCm39) |
|
probably benign |
Het |
Ttc21b |
C |
T |
2: 66,065,413 (GRCm39) |
E454K |
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 |
R2901:Mgat4f
|
UTSW |
1 |
134,318,662 (GRCm39) |
missense |
probably damaging |
0.99 |
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'- TGGGTGAGCCTAGACTTCTC -3'
(R):5'- GGCTTATCTAGAACCACCAGC -3'
Sequencing Primer
(F):5'- GTGAGCCTAGACTTCTCCAGCATG -3'
(R):5'- CAAGTAGTTGCCTTCTAGAGGGTCC -3'
|
Posted On |
2015-04-17 |