Incidental Mutation 'IGL03062:Mgat4c'
| ID |
409507 |
| 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 # |
IGL03062
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
101517348-102227330 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 102224322 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 179
(Y179H)
|
| 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 damaging
Transcript: ENSMUST00000020039
AA Change: Y179H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020039
Gene: ENSMUSG00000019888
AA Change: Y179H
| 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 damaging
Transcript: ENSMUST00000120748
AA Change: Y179H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114010
Gene: ENSMUSG00000019888
AA Change: Y179H
| 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 damaging
Transcript: ENSMUST00000163753
AA Change: Y179H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131551
Gene: ENSMUSG00000019888
AA Change: Y179H
| 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 damaging
Transcript: ENSMUST00000179929
AA Change: Y179H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135959
Gene: ENSMUSG00000019888
AA Change: Y179H
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
C |
T |
8: 124,681,054 (GRCm39) |
R714Q |
possibly damaging |
Het |
| Abcb5 |
T |
A |
12: 118,899,822 (GRCm39) |
I282L |
probably benign |
Het |
| Aox1 |
A |
T |
1: 58,117,624 (GRCm39) |
E835D |
probably benign |
Het |
| Arhgap17 |
C |
T |
7: 122,921,097 (GRCm39) |
|
probably null |
Het |
| Bltp1 |
T |
C |
3: 37,092,666 (GRCm39) |
|
probably benign |
Het |
| Calcr |
C |
T |
6: 3,693,718 (GRCm39) |
V359I |
probably benign |
Het |
| Chd9 |
T |
A |
8: 91,741,895 (GRCm39) |
|
probably benign |
Het |
| Col28a1 |
T |
C |
6: 8,017,029 (GRCm39) |
|
probably benign |
Het |
| Dnajc11 |
A |
G |
4: 152,055,318 (GRCm39) |
E171G |
possibly damaging |
Het |
| Efhd1 |
T |
C |
1: 87,192,406 (GRCm39) |
F79L |
possibly damaging |
Het |
| Fam83a |
A |
T |
15: 57,856,473 (GRCm39) |
|
probably null |
Het |
| Fam98a |
A |
G |
17: 75,847,100 (GRCm39) |
|
probably benign |
Het |
| Ficd |
A |
G |
5: 113,876,314 (GRCm39) |
Y163C |
probably damaging |
Het |
| Filip1l |
T |
C |
16: 57,327,167 (GRCm39) |
S66P |
probably damaging |
Het |
| Fmo5 |
A |
G |
3: 97,542,909 (GRCm39) |
Y73C |
probably damaging |
Het |
| Galnt12 |
C |
A |
4: 47,122,566 (GRCm39) |
R574S |
possibly damaging |
Het |
| Klc3 |
C |
A |
7: 19,128,987 (GRCm39) |
G461W |
probably damaging |
Het |
| Lmo7 |
A |
T |
14: 102,149,515 (GRCm39) |
T973S |
possibly damaging |
Het |
| Loxl1 |
C |
A |
9: 58,219,193 (GRCm39) |
G326V |
possibly damaging |
Het |
| Lrrc24 |
A |
G |
15: 76,602,504 (GRCm39) |
V127A |
probably benign |
Het |
| Lyrm1 |
T |
C |
7: 119,515,354 (GRCm39) |
|
probably benign |
Het |
| Med28 |
G |
A |
5: 45,679,811 (GRCm39) |
V65I |
probably damaging |
Het |
| Micall1 |
A |
C |
15: 78,998,881 (GRCm39) |
N58T |
probably damaging |
Het |
| Mtcl3 |
T |
A |
10: 29,074,945 (GRCm39) |
F911Y |
probably damaging |
Het |
| Ncoa4 |
T |
A |
14: 31,895,377 (GRCm39) |
M72K |
possibly damaging |
Het |
| Nutm1 |
T |
C |
2: 112,079,278 (GRCm39) |
Q879R |
probably benign |
Het |
| Or4d6 |
C |
T |
19: 12,086,512 (GRCm39) |
V133I |
probably benign |
Het |
| Or8b12i |
T |
A |
9: 20,082,463 (GRCm39) |
I135F |
probably damaging |
Het |
| Or8g52 |
T |
A |
9: 39,631,331 (GRCm39) |
D269E |
probably benign |
Het |
| Phf11b |
T |
C |
14: 59,562,373 (GRCm39) |
I177M |
probably damaging |
Het |
| Pin1rt1 |
T |
G |
2: 104,545,052 (GRCm39) |
I27L |
probably benign |
Het |
| Plxna2 |
T |
C |
1: 194,444,858 (GRCm39) |
V750A |
possibly damaging |
Het |
| Pou5f1 |
A |
T |
17: 35,820,936 (GRCm39) |
N126I |
possibly damaging |
Het |
| Ptprn |
A |
T |
1: 75,224,517 (GRCm39) |
H946Q |
possibly damaging |
Het |
| Rnf43 |
G |
T |
11: 87,623,130 (GRCm39) |
G744* |
probably null |
Het |
| Rsbn1 |
C |
A |
3: 103,860,945 (GRCm39) |
|
probably benign |
Het |
| Sars2 |
T |
A |
7: 28,446,206 (GRCm39) |
I145N |
possibly damaging |
Het |
| Sh3tc2 |
A |
T |
18: 62,144,951 (GRCm39) |
E1135V |
probably damaging |
Het |
| Shroom1 |
A |
G |
11: 53,354,206 (GRCm39) |
D42G |
probably benign |
Het |
| Sidt2 |
A |
G |
9: 45,853,981 (GRCm39) |
|
probably null |
Het |
| Slc39a8 |
T |
C |
3: 135,592,558 (GRCm39) |
|
probably benign |
Het |
| Slc9c1 |
T |
C |
16: 45,420,121 (GRCm39) |
S1059P |
probably benign |
Het |
| Socs6 |
A |
T |
18: 88,887,970 (GRCm39) |
M315K |
probably benign |
Het |
| Speer2 |
T |
C |
16: 69,654,865 (GRCm39) |
E200G |
probably damaging |
Het |
| Sult2a5 |
T |
A |
7: 13,358,107 (GRCm39) |
|
probably null |
Het |
| Tmbim1 |
A |
T |
1: 74,330,858 (GRCm39) |
I168N |
possibly damaging |
Het |
| Trim38 |
T |
C |
13: 23,966,946 (GRCm39) |
V131A |
probably damaging |
Het |
| Ube2o |
A |
G |
11: 116,432,468 (GRCm39) |
S833P |
probably damaging |
Het |
| Uggt2 |
T |
C |
14: 119,312,758 (GRCm39) |
I350M |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,548,648 (GRCm39) |
D640G |
probably damaging |
Het |
| Vmn2r13 |
A |
G |
5: 109,304,148 (GRCm39) |
F761S |
probably damaging |
Het |
| Vmn2r54 |
C |
T |
7: 12,366,355 (GRCm39) |
C193Y |
probably 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 |
|
|
IGL02946:Mgat4c
|
APN |
10 |
102,225,114 (GRCm39) |
missense |
probably benign |
0.14 |
|
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 |
2016-08-02 |
Incidental Mutation