Incidental Mutation 'R3782:Mgat4c'
| ID |
272089 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mgat4c
|
| Ensembl Gene |
ENSMUSG00000019888 |
| Gene Name |
MGAT4 family, member C |
| Synonyms |
9130411I17Rik |
| MMRRC Submission |
040751-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3782 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
101517348-102227330 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 102224782 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 332
(E332G)
|
| 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 |
probably benign
Transcript: ENSMUST00000020039
AA Change: E332G
PolyPhen 2
Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000020039
Gene: ENSMUSG00000019888
AA Change: E332G
| 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: ENSMUST00000120748
AA Change: E332G
PolyPhen 2
Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000114010
Gene: ENSMUSG00000019888
AA Change: E332G
| 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 |
probably benign
Transcript: ENSMUST00000163753
AA Change: E332G
PolyPhen 2
Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000131551
Gene: ENSMUSG00000019888
AA Change: E332G
| 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: ENSMUST00000179929
AA Change: E332G
PolyPhen 2
Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000135959
Gene: ENSMUSG00000019888
AA Change: E332G
| 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
|
| Meta Mutation Damage Score |
0.1519 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
| Validation Efficiency |
100% (42/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aimp2 |
T |
A |
5: 143,843,517 (GRCm39) |
K24N |
possibly damaging |
Het |
| Atf6 |
A |
T |
1: 170,622,336 (GRCm39) |
Y428* |
probably null |
Het |
| BC034090 |
T |
C |
1: 155,102,024 (GRCm39) |
E80G |
probably damaging |
Het |
| Calcr |
T |
C |
6: 3,700,193 (GRCm39) |
T263A |
possibly damaging |
Het |
| Cdh20 |
T |
A |
1: 109,976,734 (GRCm39) |
V133E |
probably benign |
Het |
| Cpsf3 |
A |
C |
12: 21,350,067 (GRCm39) |
E262A |
possibly damaging |
Het |
| Ddx5 |
T |
C |
11: 106,675,346 (GRCm39) |
I330V |
probably benign |
Het |
| Dlg5 |
A |
G |
14: 24,240,378 (GRCm39) |
|
probably benign |
Het |
| Enam |
A |
T |
5: 88,650,674 (GRCm39) |
S653C |
probably damaging |
Het |
| Fndc3b |
A |
T |
3: 27,514,135 (GRCm39) |
V682D |
possibly damaging |
Het |
| Guf1 |
A |
T |
5: 69,724,495 (GRCm39) |
M396L |
probably benign |
Het |
| H2-Q10 |
A |
G |
17: 35,781,915 (GRCm39) |
Y179C |
possibly damaging |
Het |
| Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
| Hpgd |
G |
A |
8: 56,751,453 (GRCm39) |
V94M |
probably damaging |
Het |
| Ktn1 |
G |
A |
14: 47,943,860 (GRCm39) |
|
probably benign |
Het |
| Lama5 |
T |
G |
2: 179,836,356 (GRCm39) |
H1165P |
possibly damaging |
Het |
| Lrrfip1 |
A |
G |
1: 91,039,911 (GRCm39) |
T205A |
possibly damaging |
Het |
| Mcm7 |
G |
A |
5: 138,162,998 (GRCm39) |
R385W |
probably damaging |
Het |
| Mpp7 |
A |
T |
18: 7,351,085 (GRCm39) |
H537Q |
probably damaging |
Het |
| Mx1 |
T |
C |
16: 97,253,195 (GRCm39) |
D380G |
possibly damaging |
Het |
| Nckap5 |
T |
A |
1: 125,952,811 (GRCm39) |
Q1183L |
possibly damaging |
Het |
| Nkx1-2 |
A |
G |
7: 132,199,161 (GRCm39) |
V200A |
probably damaging |
Het |
| Nr3c2 |
T |
A |
8: 77,812,313 (GRCm39) |
|
probably null |
Het |
| Nsmce1 |
C |
T |
7: 125,085,549 (GRCm39) |
V47I |
probably benign |
Het |
| Nudt3 |
A |
G |
17: 27,799,782 (GRCm39) |
S134P |
possibly damaging |
Het |
| Or1e26 |
C |
A |
11: 73,479,839 (GRCm39) |
G242C |
probably damaging |
Het |
| Or1e26 |
A |
T |
11: 73,480,194 (GRCm39) |
Y123* |
probably null |
Het |
| Or5g9 |
G |
A |
2: 85,552,040 (GRCm39) |
C97Y |
probably damaging |
Het |
| Pcnx1 |
A |
G |
12: 82,042,892 (GRCm39) |
T2325A |
probably benign |
Het |
| Phactr4 |
A |
T |
4: 132,095,178 (GRCm39) |
|
probably null |
Het |
| Rnf7l |
T |
A |
10: 63,257,472 (GRCm39) |
H16L |
probably benign |
Het |
| Serpinb6d |
T |
A |
13: 33,848,097 (GRCm39) |
D20E |
probably benign |
Het |
| Spta1 |
A |
T |
1: 174,035,880 (GRCm39) |
Y1062F |
probably damaging |
Het |
| Ssc5d |
A |
G |
7: 4,945,790 (GRCm39) |
T941A |
probably benign |
Het |
| Taf11 |
A |
G |
17: 28,122,167 (GRCm39) |
|
probably benign |
Het |
| Tax1bp1 |
A |
G |
6: 52,716,533 (GRCm39) |
H286R |
probably damaging |
Het |
| Tmem62 |
T |
A |
2: 120,807,948 (GRCm39) |
W57R |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,790,301 (GRCm39) |
Y235C |
possibly damaging |
Het |
| Vmn2r22 |
T |
A |
6: 123,627,591 (GRCm39) |
K2* |
probably null |
Het |
| Vmn2r74 |
A |
G |
7: 85,605,322 (GRCm39) |
V442A |
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 |
|
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 |
|
R5740:Mgat4c
|
UTSW |
10 |
102,225,182 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
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'- ACGTCTGGCCCATTTCTTATTAATG -3'
(R):5'- AAGATGTCATTCTGCCGGTC -3'
Sequencing Primer
(F):5'- GTTCTATCAAGAAATGCCCTGCG -3'
(R):5'- GCCGGTCCTCTGTTCCAG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation