Incidental Mutation 'R3011:Mgat4e'
| ID |
257494 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mgat4e
|
| Ensembl Gene |
ENSMUSG00000046367 |
| Gene Name |
MGAT4 family, member E |
| Synonyms |
4931440L10Rik |
| MMRRC Submission |
040533-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R3011 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
134468679-134477420 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 134469846 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 66
(D66V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133717
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052911]
[ENSMUST00000172898]
[ENSMUST00000185836]
|
| AlphaFold |
A6H684 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052911
AA Change: D66V
PolyPhen 2
Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000125929
Gene: ENSMUSG00000046367
AA Change: D66V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_54
|
35 |
266 |
5e-61 |
PFAM |
|
low complexity region
|
425 |
438 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172898
AA Change: D66V
PolyPhen 2
Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000133717
Gene: ENSMUSG00000046367
AA Change: D66V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_54
|
33 |
268 |
5.9e-61 |
PFAM |
|
low complexity region
|
425 |
438 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185836
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (29/29) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap31 |
A |
C |
16: 38,422,269 (GRCm39) |
C1266G |
possibly damaging |
Het |
| Brme1 |
C |
A |
8: 84,893,539 (GRCm39) |
Y235* |
probably null |
Het |
| Cers5 |
A |
G |
15: 99,670,598 (GRCm39) |
|
probably benign |
Het |
| Clasp2 |
C |
T |
9: 113,730,581 (GRCm39) |
T905M |
probably damaging |
Het |
| Clec16a |
A |
G |
16: 10,428,975 (GRCm39) |
N469S |
probably benign |
Het |
| Commd3 |
T |
A |
2: 18,679,499 (GRCm39) |
V128D |
probably damaging |
Het |
| Cped1 |
A |
G |
6: 22,088,695 (GRCm39) |
T253A |
probably damaging |
Het |
| Dnajc5b |
A |
T |
3: 19,600,966 (GRCm39) |
Y21F |
probably damaging |
Het |
| Fhip2a |
T |
A |
19: 57,373,720 (GRCm39) |
L660Q |
probably damaging |
Het |
| Gm14403 |
A |
G |
2: 177,200,786 (GRCm39) |
D244G |
probably benign |
Het |
| Gm5414 |
T |
C |
15: 101,534,047 (GRCm39) |
D312G |
probably damaging |
Het |
| Ifi204 |
T |
C |
1: 173,579,217 (GRCm39) |
S543G |
probably benign |
Het |
| Itga11 |
T |
A |
9: 62,604,262 (GRCm39) |
I50N |
probably damaging |
Het |
| Lct |
C |
T |
1: 128,229,109 (GRCm39) |
V795I |
possibly damaging |
Het |
| Lrrc37 |
T |
A |
11: 103,503,929 (GRCm39) |
T504S |
possibly damaging |
Het |
| Map2 |
A |
G |
1: 66,453,771 (GRCm39) |
D887G |
probably damaging |
Het |
| Nqo1 |
C |
T |
8: 108,115,743 (GRCm39) |
R178H |
probably benign |
Het |
| Or13e8 |
G |
T |
4: 43,696,624 (GRCm39) |
A183E |
probably damaging |
Het |
| Or5h22 |
A |
G |
16: 58,895,350 (GRCm39) |
V31A |
probably benign |
Het |
| Otof |
G |
A |
5: 30,540,184 (GRCm39) |
A999V |
probably damaging |
Het |
| Phf20 |
A |
G |
2: 156,129,946 (GRCm39) |
D506G |
probably benign |
Het |
| Pth2r |
C |
T |
1: 65,376,147 (GRCm39) |
H97Y |
probably benign |
Het |
| Snx18 |
G |
A |
13: 113,753,422 (GRCm39) |
Q504* |
probably null |
Het |
| Sppl2c |
C |
T |
11: 104,078,141 (GRCm39) |
P314S |
probably benign |
Het |
| Srgap2 |
T |
A |
1: 131,238,329 (GRCm39) |
Q520L |
probably damaging |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Tlr4 |
A |
T |
4: 66,757,491 (GRCm39) |
K95* |
probably null |
Het |
| Tmem59l |
A |
T |
8: 70,938,887 (GRCm39) |
C96S |
probably damaging |
Het |
| Tmtc3 |
G |
T |
10: 100,283,444 (GRCm39) |
P704T |
possibly damaging |
Het |
| Upp2 |
T |
C |
2: 58,680,107 (GRCm39) |
V293A |
probably damaging |
Het |
| Vps72 |
A |
G |
3: 95,026,585 (GRCm39) |
K177E |
probably damaging |
Het |
|
| Other mutations in Mgat4e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01314:Mgat4e
|
APN |
1 |
134,469,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02863:Mgat4e
|
APN |
1 |
134,468,896 (GRCm39) |
missense |
probably benign |
|
|
IGL02999:Mgat4e
|
APN |
1 |
134,468,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4449:Mgat4e
|
UTSW |
1 |
134,468,735 (GRCm39) |
utr 3 prime |
probably benign |
|
|
PIT4480001:Mgat4e
|
UTSW |
1 |
134,469,103 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R0226:Mgat4e
|
UTSW |
1 |
134,468,841 (GRCm39) |
missense |
probably benign |
|
|
R1396:Mgat4e
|
UTSW |
1 |
134,469,271 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1626:Mgat4e
|
UTSW |
1 |
134,469,016 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2020:Mgat4e
|
UTSW |
1 |
134,469,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4748:Mgat4e
|
UTSW |
1 |
134,469,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4784:Mgat4e
|
UTSW |
1 |
134,469,063 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4859:Mgat4e
|
UTSW |
1 |
134,469,478 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4894:Mgat4e
|
UTSW |
1 |
134,468,856 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4910:Mgat4e
|
UTSW |
1 |
134,469,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5007:Mgat4e
|
UTSW |
1 |
134,468,890 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5108:Mgat4e
|
UTSW |
1 |
134,468,961 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5691:Mgat4e
|
UTSW |
1 |
134,468,729 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5994:Mgat4e
|
UTSW |
1 |
134,469,234 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6467:Mgat4e
|
UTSW |
1 |
134,468,944 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7155:Mgat4e
|
UTSW |
1 |
134,469,697 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7612:Mgat4e
|
UTSW |
1 |
134,469,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9046:Mgat4e
|
UTSW |
1 |
134,474,742 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCGTGGATCAGTAACAATTGC -3'
(R):5'- CAAGTAGCATCCTCTGATCTTTAAG -3'
Sequencing Primer
(F):5'- AATTGCCCTGTCAAGATCTGGGAC -3'
(R):5'- ACAGGCAGTTGTAAGCTTCC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation