Incidental Mutation 'R1322:Mgat4d'
| ID |
157714 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mgat4d
|
| Ensembl Gene |
ENSMUSG00000035057 |
| Gene Name |
MGAT4 family, member C |
| Synonyms |
4933434I20Rik |
| MMRRC Submission |
039388-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1322 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
84075101-84106031 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 84092354 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 247
(T247A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041629
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038692]
|
| AlphaFold |
Q9D4R2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038692
AA Change: T247A
PolyPhen 2
Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000041629
Gene: ENSMUSG00000035057
AA Change: T247A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_54
|
70 |
373 |
5.9e-120 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139692
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.9%
- 20x: 92.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aco2 |
C |
T |
15: 81,779,394 (GRCm39) |
S33L |
probably damaging |
Het |
| Col27a1 |
A |
C |
4: 63,246,803 (GRCm39) |
|
probably benign |
Het |
| Fam184a |
G |
T |
10: 53,528,415 (GRCm39) |
D815E |
probably damaging |
Het |
| Gjb3 |
G |
A |
4: 127,220,224 (GRCm39) |
R103W |
probably damaging |
Het |
| Gpr162 |
G |
T |
6: 124,835,864 (GRCm39) |
T512K |
probably damaging |
Het |
| Hipk1 |
A |
T |
3: 103,651,297 (GRCm39) |
S1155R |
probably damaging |
Het |
| Itih2 |
A |
G |
2: 10,114,333 (GRCm39) |
V417A |
probably damaging |
Het |
| Kmt2a |
A |
G |
9: 44,732,418 (GRCm39) |
|
probably benign |
Het |
| Mecom |
G |
T |
3: 30,011,522 (GRCm39) |
P670Q |
probably damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Or7g18 |
T |
C |
9: 18,786,817 (GRCm39) |
F65L |
possibly damaging |
Het |
| Polr1c |
T |
C |
17: 46,555,089 (GRCm39) |
K327R |
possibly damaging |
Het |
| Prpf39 |
A |
T |
12: 65,089,436 (GRCm39) |
N58I |
possibly damaging |
Het |
| Sh3bp2 |
T |
A |
5: 34,712,837 (GRCm39) |
N92K |
probably damaging |
Het |
| Sppl3 |
TGG |
TG |
5: 115,226,352 (GRCm39) |
|
probably null |
Het |
| Tnc |
C |
T |
4: 63,932,231 (GRCm39) |
V728M |
probably damaging |
Het |
| Trgc3 |
T |
C |
13: 19,445,364 (GRCm39) |
F104S |
probably benign |
Het |
| Vmn2r88 |
T |
G |
14: 51,651,565 (GRCm39) |
I293S |
probably damaging |
Het |
| Zfp251 |
C |
T |
15: 76,738,436 (GRCm39) |
R219Q |
possibly damaging |
Het |
| Zfp930 |
A |
G |
8: 69,680,820 (GRCm39) |
T171A |
probably benign |
Het |
|
| Other mutations in Mgat4d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00542:Mgat4d
|
APN |
8 |
84,081,425 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL01634:Mgat4d
|
APN |
8 |
84,094,745 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL01987:Mgat4d
|
APN |
8 |
84,094,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02084:Mgat4d
|
APN |
8 |
84,095,610 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0546:Mgat4d
|
UTSW |
8 |
84,082,350 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1526:Mgat4d
|
UTSW |
8 |
84,095,666 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1617:Mgat4d
|
UTSW |
8 |
84,092,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2223:Mgat4d
|
UTSW |
8 |
84,082,301 (GRCm39) |
splice site |
probably benign |
|
|
R3157:Mgat4d
|
UTSW |
8 |
84,081,450 (GRCm39) |
missense |
probably benign |
|
|
R3421:Mgat4d
|
UTSW |
8 |
84,084,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3422:Mgat4d
|
UTSW |
8 |
84,084,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4387:Mgat4d
|
UTSW |
8 |
84,098,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4796:Mgat4d
|
UTSW |
8 |
84,084,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4805:Mgat4d
|
UTSW |
8 |
84,084,787 (GRCm39) |
splice site |
probably null |
|
|
R5054:Mgat4d
|
UTSW |
8 |
84,094,837 (GRCm39) |
splice site |
probably null |
|
|
R6366:Mgat4d
|
UTSW |
8 |
84,095,580 (GRCm39) |
splice site |
probably null |
|
|
R6927:Mgat4d
|
UTSW |
8 |
84,081,496 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7053:Mgat4d
|
UTSW |
8 |
84,098,261 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7554:Mgat4d
|
UTSW |
8 |
84,082,402 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7566:Mgat4d
|
UTSW |
8 |
84,084,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7965:Mgat4d
|
UTSW |
8 |
84,084,722 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8111:Mgat4d
|
UTSW |
8 |
84,094,776 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8344:Mgat4d
|
UTSW |
8 |
84,094,762 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Mgat4d
|
UTSW |
8 |
84,094,741 (GRCm39) |
missense |
probably benign |
0.39 |
|
Z1176:Mgat4d
|
UTSW |
8 |
84,075,150 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGGTACTGCCCACTCAATGAAG -3'
(R):5'- TGGGTTCAGGCATGAACACAGG -3'
Sequencing Primer
(F):5'- CTCAATGAAGATGAGAGGCTCTTTAG -3'
(R):5'- GGGATTTCTAATTCCTCTCAGTAGC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation