Incidental Mutation 'IGL02150:Mgat4c'
| ID |
281978 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mgat4c
|
| Ensembl Gene |
ENSMUSG00000019888 |
| Gene Name |
MGAT4 family, member C |
| Synonyms |
9130411I17Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02150
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
101517348-102227330 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 102224983 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Alanine
at position 399
(E399A)
|
| 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: E399A
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000020039
Gene: ENSMUSG00000019888
AA Change: E399A
| 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: E399A
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000114010
Gene: ENSMUSG00000019888
AA Change: E399A
| 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: E399A
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000131551
Gene: ENSMUSG00000019888
AA Change: E399A
| 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: E399A
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000135959
Gene: ENSMUSG00000019888
AA Change: E399A
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankdd1a |
C |
T |
9: 65,420,001 (GRCm39) |
G92S |
probably damaging |
Het |
| Arid1a |
A |
T |
4: 133,414,568 (GRCm39) |
M1221K |
unknown |
Het |
| Arl10 |
G |
A |
13: 54,726,662 (GRCm39) |
V147M |
probably damaging |
Het |
| Bbs4 |
T |
C |
9: 59,243,651 (GRCm39) |
N152S |
probably benign |
Het |
| Cacna2d2 |
T |
G |
9: 107,404,515 (GRCm39) |
|
probably benign |
Het |
| Capn9 |
A |
G |
8: 125,340,582 (GRCm39) |
E582G |
probably benign |
Het |
| Cct2 |
A |
T |
10: 116,898,004 (GRCm39) |
L61Q |
probably damaging |
Het |
| Clip4 |
A |
G |
17: 72,106,071 (GRCm39) |
I85V |
probably damaging |
Het |
| Daam2 |
A |
T |
17: 49,797,332 (GRCm39) |
L151Q |
possibly damaging |
Het |
| Dlst |
T |
A |
12: 85,177,807 (GRCm39) |
I400N |
possibly damaging |
Het |
| Dock7 |
A |
T |
4: 98,968,089 (GRCm39) |
|
probably benign |
Het |
| Dynlrb2 |
A |
G |
8: 117,242,449 (GRCm39) |
N93S |
probably benign |
Het |
| Efl1 |
A |
G |
7: 82,335,899 (GRCm39) |
T407A |
probably benign |
Het |
| Emilin1 |
A |
G |
5: 31,077,517 (GRCm39) |
D891G |
possibly damaging |
Het |
| Enpp4 |
A |
C |
17: 44,413,049 (GRCm39) |
S162A |
probably benign |
Het |
| Epas1 |
A |
G |
17: 87,112,717 (GRCm39) |
D105G |
probably damaging |
Het |
| Fcgbpl1 |
T |
A |
7: 27,846,204 (GRCm39) |
Y965* |
probably null |
Het |
| Gcn1 |
T |
A |
5: 115,747,927 (GRCm39) |
I1778N |
probably damaging |
Het |
| Gm14496 |
A |
C |
2: 181,633,140 (GRCm39) |
D41A |
probably damaging |
Het |
| Gm7008 |
T |
A |
12: 40,273,257 (GRCm39) |
|
probably benign |
Het |
| Hcfc2 |
G |
A |
10: 82,545,852 (GRCm39) |
S246N |
probably damaging |
Het |
| Hectd1 |
T |
C |
12: 51,815,974 (GRCm39) |
N1366S |
probably damaging |
Het |
| Lgmn |
T |
C |
12: 102,361,986 (GRCm39) |
R372G |
possibly damaging |
Het |
| Map2k7 |
A |
G |
8: 4,293,818 (GRCm39) |
M153V |
possibly damaging |
Het |
| Megf8 |
T |
A |
7: 25,045,842 (GRCm39) |
|
probably null |
Het |
| Myorg |
A |
G |
4: 41,499,183 (GRCm39) |
V149A |
possibly damaging |
Het |
| Nfat5 |
C |
T |
8: 108,094,584 (GRCm39) |
Q942* |
probably null |
Het |
| Notch4 |
A |
G |
17: 34,803,587 (GRCm39) |
E1502G |
probably damaging |
Het |
| Optn |
A |
C |
2: 5,037,963 (GRCm39) |
I410M |
probably damaging |
Het |
| Or6b9 |
G |
T |
7: 106,555,763 (GRCm39) |
P127T |
probably damaging |
Het |
| Or8c17 |
A |
T |
9: 38,180,564 (GRCm39) |
I252L |
possibly damaging |
Het |
| Ppp1ca |
G |
A |
19: 4,244,698 (GRCm39) |
|
probably benign |
Het |
| Pramel5 |
C |
A |
4: 143,999,771 (GRCm39) |
L105F |
possibly damaging |
Het |
| Rad54b |
T |
A |
4: 11,610,502 (GRCm39) |
N706K |
probably damaging |
Het |
| Rgs11 |
A |
T |
17: 26,421,968 (GRCm39) |
T6S |
probably benign |
Het |
| Sbf1 |
T |
C |
15: 89,179,683 (GRCm39) |
H1308R |
probably benign |
Het |
| Scart2 |
G |
A |
7: 139,877,772 (GRCm39) |
G918D |
possibly damaging |
Het |
| Sec31a |
T |
C |
5: 100,533,984 (GRCm39) |
|
probably benign |
Het |
| Sh2d5 |
G |
A |
4: 137,985,553 (GRCm39) |
D334N |
probably benign |
Het |
| Skint5 |
T |
A |
4: 113,742,988 (GRCm39) |
I360F |
unknown |
Het |
| Slc12a1 |
G |
A |
2: 125,026,735 (GRCm39) |
D457N |
probably damaging |
Het |
| Slco2a1 |
C |
T |
9: 102,962,017 (GRCm39) |
A563V |
probably damaging |
Het |
| Snrnp35 |
G |
A |
5: 124,628,471 (GRCm39) |
A95T |
probably damaging |
Het |
| Snx25 |
C |
A |
8: 46,569,318 (GRCm39) |
R193L |
possibly damaging |
Het |
| Stxbp5 |
T |
G |
10: 9,638,565 (GRCm39) |
Q1078P |
probably damaging |
Het |
| Tmc2 |
A |
T |
2: 130,082,073 (GRCm39) |
I419F |
probably damaging |
Het |
| Tmem87a |
A |
T |
2: 120,190,557 (GRCm39) |
W525R |
probably damaging |
Het |
| Trhde |
A |
T |
10: 114,428,013 (GRCm39) |
S428T |
probably damaging |
Het |
| Trp73 |
G |
A |
4: 154,165,943 (GRCm39) |
A42V |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,679,316 (GRCm39) |
|
probably benign |
Het |
| Ttn |
C |
T |
2: 76,598,846 (GRCm39) |
V19356M |
probably damaging |
Het |
| Vmn1r170 |
T |
A |
7: 23,306,465 (GRCm39) |
L289* |
probably null |
Het |
| Vwa5b2 |
A |
T |
16: 20,423,576 (GRCm39) |
Q1163L |
probably benign |
Het |
| Washc2 |
T |
A |
6: 116,208,593 (GRCm39) |
|
probably benign |
Het |
| Wdr70 |
T |
G |
15: 8,112,030 (GRCm39) |
K71T |
possibly damaging |
Het |
| Zbtb41 |
T |
C |
1: 139,368,186 (GRCm39) |
S625P |
possibly damaging |
Het |
| Zfp518b |
A |
G |
5: 38,830,686 (GRCm39) |
S440P |
probably damaging |
Het |
| Zfp518b |
A |
G |
5: 38,831,132 (GRCm39) |
V291A |
probably damaging |
Het |
| Zmym2 |
G |
A |
14: 57,148,526 (GRCm39) |
|
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 |
|
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation