Incidental Mutation 'IGL02946:Mgat4c'
ID |
364756 |
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 # |
IGL02946
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
101517348-102227330 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 102225114 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 443
(S443P)
|
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: S443P
PolyPhen 2
Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000020039 Gene: ENSMUSG00000019888 AA Change: S443P
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: S443P
PolyPhen 2
Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000114010 Gene: ENSMUSG00000019888 AA Change: S443P
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: S443P
PolyPhen 2
Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000131551 Gene: ENSMUSG00000019888 AA Change: S443P
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: S443P
PolyPhen 2
Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000135959 Gene: ENSMUSG00000019888 AA Change: S443P
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
G |
A |
11: 109,919,041 (GRCm39) |
|
probably benign |
Het |
Actr3b |
T |
C |
5: 26,053,481 (GRCm39) |
I270T |
possibly damaging |
Het |
Adgrf2 |
T |
C |
17: 43,021,384 (GRCm39) |
Y480C |
probably damaging |
Het |
Arhgap27 |
T |
C |
11: 103,229,174 (GRCm39) |
T514A |
probably damaging |
Het |
BC031181 |
C |
T |
18: 75,141,736 (GRCm39) |
|
probably benign |
Het |
Cckbr |
C |
T |
7: 105,083,238 (GRCm39) |
A147V |
probably damaging |
Het |
Ccm2 |
G |
A |
11: 6,546,195 (GRCm39) |
R335H |
probably damaging |
Het |
Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
Crabp1 |
T |
C |
9: 54,672,232 (GRCm39) |
F16S |
possibly damaging |
Het |
Crmp1 |
C |
T |
5: 37,441,424 (GRCm39) |
A502V |
probably damaging |
Het |
Ehhadh |
A |
T |
16: 21,581,672 (GRCm39) |
V440D |
probably damaging |
Het |
Galnt3 |
T |
A |
2: 65,925,562 (GRCm39) |
I392L |
probably damaging |
Het |
Gm12689 |
T |
A |
4: 99,184,490 (GRCm39) |
N114K |
unknown |
Het |
Hspa2 |
A |
G |
12: 76,451,947 (GRCm39) |
T214A |
probably damaging |
Het |
Itga7 |
T |
C |
10: 128,769,952 (GRCm39) |
I32T |
probably benign |
Het |
Itgal |
A |
G |
7: 126,913,540 (GRCm39) |
S682G |
probably damaging |
Het |
Kctd1 |
C |
T |
18: 15,107,036 (GRCm39) |
|
probably null |
Het |
Lrp1b |
T |
A |
2: 41,202,571 (GRCm39) |
D439V |
probably damaging |
Het |
Mdn1 |
A |
G |
4: 32,734,366 (GRCm39) |
K3258E |
probably damaging |
Het |
Mylk |
G |
A |
16: 34,742,158 (GRCm39) |
G890E |
probably benign |
Het |
Mylk2 |
T |
A |
2: 152,761,130 (GRCm39) |
L446* |
probably null |
Het |
Niban1 |
A |
T |
1: 151,525,176 (GRCm39) |
I194F |
probably damaging |
Het |
Or2t26 |
T |
G |
11: 49,039,719 (GRCm39) |
F212V |
probably damaging |
Het |
Pi4k2b |
T |
C |
5: 52,910,549 (GRCm39) |
F278L |
probably damaging |
Het |
Pitpnm3 |
A |
G |
11: 71,983,378 (GRCm39) |
S84P |
probably benign |
Het |
Plxna2 |
T |
C |
1: 194,431,617 (GRCm39) |
|
probably benign |
Het |
Prr5l |
C |
A |
2: 101,602,529 (GRCm39) |
|
probably null |
Het |
Ptprs |
T |
C |
17: 56,731,032 (GRCm39) |
T719A |
probably benign |
Het |
Rasa3 |
T |
C |
8: 13,648,280 (GRCm39) |
H128R |
probably benign |
Het |
Rhox13 |
A |
G |
X: 37,218,652 (GRCm39) |
K205E |
probably damaging |
Het |
Rif1 |
C |
A |
2: 52,000,137 (GRCm39) |
S1197* |
probably null |
Het |
Sgta |
A |
G |
10: 80,885,612 (GRCm39) |
|
probably benign |
Het |
Slc25a5 |
T |
A |
X: 36,061,506 (GRCm39) |
M239K |
probably damaging |
Het |
Stil |
T |
A |
4: 114,887,110 (GRCm39) |
H734Q |
probably benign |
Het |
Stk32b |
T |
C |
5: 37,688,883 (GRCm39) |
|
probably benign |
Het |
Ubr4 |
T |
G |
4: 139,152,606 (GRCm39) |
F1999C |
probably damaging |
Het |
Wfdc2 |
A |
C |
2: 164,406,009 (GRCm39) |
T86P |
probably benign |
Het |
Zfp407 |
T |
C |
18: 84,578,834 (GRCm39) |
S760G |
probably damaging |
Het |
Zfp668 |
A |
T |
7: 127,465,690 (GRCm39) |
L498Q |
possibly damaging |
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 |
|
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 |
2015-12-18 |