Incidental Mutation 'R5740:Mgat4c'
| ID |
444752 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mgat4c
|
| Ensembl Gene |
ENSMUSG00000019888 |
| Gene Name |
MGAT4 family, member C |
| Synonyms |
9130411I17Rik |
| MMRRC Submission |
043196-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5740 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
101517348-102227330 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 102225182 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 465
(K465N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135959
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020039]
[ENSMUST00000120748]
[ENSMUST00000127504]
[ENSMUST00000138522]
[ENSMUST00000156751]
[ENSMUST00000163753]
[ENSMUST00000179929]
[ENSMUST00000219195]
|
| AlphaFold |
Q9D306 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020039
AA Change: K465N
PolyPhen 2
Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000020039
Gene: ENSMUSG00000019888
AA Change: K465N
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
26 |
43 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_54
|
44 |
330 |
5.3e-112 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000120748
AA Change: K465N
PolyPhen 2
Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000114010
Gene: ENSMUSG00000019888
AA Change: K465N
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
26 |
43 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_54
|
44 |
330 |
5.3e-112 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127504
|
| SMART Domains |
Protein: ENSMUSP00000117148
Gene: ENSMUSG00000019888
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
26 |
43 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138522
|
| SMART Domains |
Protein: ENSMUSP00000118056
Gene: ENSMUSG00000019888
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
38 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_54
|
43 |
150 |
1.5e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156751
|
| SMART Domains |
Protein: ENSMUSP00000116216
Gene: ENSMUSG00000019888
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
26 |
43 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163753
AA Change: K465N
PolyPhen 2
Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000131551
Gene: ENSMUSG00000019888
AA Change: K465N
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
26 |
43 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_54
|
44 |
330 |
5.3e-112 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000179929
AA Change: K465N
PolyPhen 2
Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000135959
Gene: ENSMUSG00000019888
AA Change: K465N
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
26 |
43 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_54
|
52 |
330 |
1.1e-96 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219195
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921513I03Rik |
G |
A |
10: 120,614,413 (GRCm39) |
|
probably benign |
Het |
| Arrdc5 |
T |
A |
17: 56,604,838 (GRCm39) |
N150Y |
probably benign |
Het |
| Bag1 |
T |
C |
4: 40,941,526 (GRCm39) |
Q269R |
probably null |
Het |
| C7 |
T |
C |
15: 5,086,522 (GRCm39) |
N40D |
probably benign |
Het |
| Ccnt1 |
T |
C |
15: 98,442,381 (GRCm39) |
I296V |
probably benign |
Het |
| Col19a1 |
C |
T |
1: 24,376,996 (GRCm39) |
G450S |
probably damaging |
Het |
| F13a1 |
T |
C |
13: 37,082,178 (GRCm39) |
T509A |
probably benign |
Het |
| Fgg |
A |
T |
3: 82,918,832 (GRCm39) |
T282S |
probably benign |
Het |
| Fzd7 |
A |
G |
1: 59,522,839 (GRCm39) |
M241V |
probably benign |
Het |
| Gja1 |
G |
A |
10: 56,264,285 (GRCm39) |
V215M |
probably damaging |
Het |
| Golgb1 |
T |
C |
16: 36,739,362 (GRCm39) |
L2567P |
probably damaging |
Het |
| Grik2 |
T |
C |
10: 48,989,573 (GRCm39) |
N819D |
probably damaging |
Het |
| Grik4 |
C |
T |
9: 42,719,863 (GRCm39) |
R3H |
possibly damaging |
Het |
| Hecw2 |
T |
C |
1: 53,926,762 (GRCm39) |
Y1079C |
probably benign |
Het |
| Hivep3 |
A |
G |
4: 119,953,220 (GRCm39) |
E512G |
possibly damaging |
Het |
| Ino80 |
T |
C |
2: 119,261,510 (GRCm39) |
D718G |
probably damaging |
Het |
| Ints10 |
G |
A |
8: 69,257,574 (GRCm39) |
R258K |
probably damaging |
Het |
| Jak2 |
A |
G |
19: 29,239,824 (GRCm39) |
K73E |
possibly damaging |
Het |
| Lrba |
A |
G |
3: 86,235,649 (GRCm39) |
I918V |
probably damaging |
Het |
| M1ap |
T |
C |
6: 82,958,903 (GRCm39) |
V178A |
probably damaging |
Het |
| Mcub |
A |
T |
3: 129,712,374 (GRCm39) |
M167K |
probably benign |
Het |
| Naip1 |
T |
A |
13: 100,569,009 (GRCm39) |
|
probably null |
Het |
| Ncbp3 |
T |
A |
11: 72,944,323 (GRCm39) |
N108K |
possibly damaging |
Het |
| Npepps |
A |
T |
11: 97,126,894 (GRCm39) |
D455E |
possibly damaging |
Het |
| Or5b101 |
T |
C |
19: 13,004,926 (GRCm39) |
M256V |
probably benign |
Het |
| Pan2 |
G |
A |
10: 128,144,033 (GRCm39) |
G128S |
probably damaging |
Het |
| Ppp3cb |
A |
T |
14: 20,551,664 (GRCm39) |
I489N |
possibly damaging |
Het |
| Sdccag8 |
A |
G |
1: 176,658,716 (GRCm39) |
T134A |
probably benign |
Het |
| Sh3tc1 |
T |
C |
5: 35,864,399 (GRCm39) |
E596G |
probably benign |
Het |
| Shank1 |
T |
C |
7: 44,003,164 (GRCm39) |
S1619P |
possibly damaging |
Het |
| Slc46a3 |
A |
T |
5: 147,816,643 (GRCm39) |
C387* |
probably null |
Het |
| Slc5a5 |
G |
T |
8: 71,341,561 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,721,718 (GRCm39) |
|
probably benign |
Het |
| Vangl1 |
T |
C |
3: 102,091,450 (GRCm39) |
D212G |
probably damaging |
Het |
| Vmn1r52 |
T |
A |
6: 90,156,176 (GRCm39) |
I160N |
probably benign |
Het |
| Vmn2r118 |
C |
T |
17: 55,900,103 (GRCm39) |
M600I |
probably benign |
Het |
| Vmn2r7 |
T |
C |
3: 64,614,654 (GRCm39) |
I387V |
probably benign |
Het |
| Zfp369 |
A |
G |
13: 65,444,581 (GRCm39) |
R575G |
probably benign |
Het |
|
| Other mutations in Mgat4c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00235:Mgat4c
|
APN |
10 |
102,224,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01293:Mgat4c
|
APN |
10 |
102,224,086 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01394:Mgat4c
|
APN |
10 |
102,220,975 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL01525:Mgat4c
|
APN |
10 |
102,214,057 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02023:Mgat4c
|
APN |
10 |
102,214,045 (GRCm39) |
nonsense |
probably null |
|
|
IGL02150:Mgat4c
|
APN |
10 |
102,224,983 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02296:Mgat4c
|
APN |
10 |
102,221,021 (GRCm39) |
splice site |
probably benign |
|
|
IGL02946:Mgat4c
|
APN |
10 |
102,225,114 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL03062:Mgat4c
|
APN |
10 |
102,224,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0001:Mgat4c
|
UTSW |
10 |
102,224,817 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0326:Mgat4c
|
UTSW |
10 |
102,224,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0480:Mgat4c
|
UTSW |
10 |
102,224,980 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0656:Mgat4c
|
UTSW |
10 |
102,224,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0746:Mgat4c
|
UTSW |
10 |
102,224,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1639:Mgat4c
|
UTSW |
10 |
102,214,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1989:Mgat4c
|
UTSW |
10 |
102,214,020 (GRCm39) |
start codon destroyed |
probably null |
0.66 |
|
R2148:Mgat4c
|
UTSW |
10 |
102,224,790 (GRCm39) |
missense |
probably benign |
|
|
R2437:Mgat4c
|
UTSW |
10 |
102,224,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2567:Mgat4c
|
UTSW |
10 |
102,214,123 (GRCm39) |
missense |
probably benign |
0.38 |
|
R3780:Mgat4c
|
UTSW |
10 |
102,224,782 (GRCm39) |
missense |
probably benign |
0.25 |
|
R3781:Mgat4c
|
UTSW |
10 |
102,224,782 (GRCm39) |
missense |
probably benign |
0.25 |
|
R3782:Mgat4c
|
UTSW |
10 |
102,224,782 (GRCm39) |
missense |
probably benign |
0.25 |
|
R3786:Mgat4c
|
UTSW |
10 |
102,220,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3806:Mgat4c
|
UTSW |
10 |
102,224,221 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4596:Mgat4c
|
UTSW |
10 |
102,224,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4718:Mgat4c
|
UTSW |
10 |
102,224,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4740:Mgat4c
|
UTSW |
10 |
102,224,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4872:Mgat4c
|
UTSW |
10 |
102,224,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5305:Mgat4c
|
UTSW |
10 |
102,225,140 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5841:Mgat4c
|
UTSW |
10 |
102,224,826 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6367:Mgat4c
|
UTSW |
10 |
102,221,015 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6459:Mgat4c
|
UTSW |
10 |
102,220,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7021:Mgat4c
|
UTSW |
10 |
102,224,289 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7122:Mgat4c
|
UTSW |
10 |
102,214,070 (GRCm39) |
nonsense |
probably null |
|
|
R7146:Mgat4c
|
UTSW |
10 |
102,224,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7629:Mgat4c
|
UTSW |
10 |
102,224,931 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7877:Mgat4c
|
UTSW |
10 |
102,220,900 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8829:Mgat4c
|
UTSW |
10 |
102,214,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8872:Mgat4c
|
UTSW |
10 |
102,224,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9181:Mgat4c
|
UTSW |
10 |
102,225,123 (GRCm39) |
missense |
probably benign |
0.14 |
|
RF020:Mgat4c
|
UTSW |
10 |
102,224,928 (GRCm39) |
missense |
probably benign |
|
|
X0020:Mgat4c
|
UTSW |
10 |
102,224,251 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
Z1177:Mgat4c
|
UTSW |
10 |
102,224,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Mgat4c
|
UTSW |
10 |
102,224,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTCACCTTCAATGGGAGATAC -3'
(R):5'- ATCAAAACTGCCGAGATGATTC -3'
Sequencing Primer
(F):5'- CACCTTCAATGGGAGATACGTTCG -3'
(R):5'- ACTGCCGAGATGATTCATTTTTC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation