Incidental Mutation 'R1639:Mgat4c'
| ID |
173386 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mgat4c
|
| Ensembl Gene |
ENSMUSG00000019888 |
| Gene Name |
MGAT4 family, member C |
| Synonyms |
9130411I17Rik |
| MMRRC Submission |
039675-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1639 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
101517348-102227330 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 102214142 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 42
(Y42H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151859
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020039]
[ENSMUST00000120748]
[ENSMUST00000127504]
[ENSMUST00000138016]
[ENSMUST00000138522]
[ENSMUST00000156751]
[ENSMUST00000179929]
[ENSMUST00000163753]
[ENSMUST00000219195]
|
| AlphaFold |
Q9D306 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020039
AA Change: Y42H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020039
Gene: ENSMUSG00000019888
AA Change: Y42H
| 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: Y42H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114010
Gene: ENSMUSG00000019888
AA Change: Y42H
| 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: ENSMUST00000127504
AA Change: Y42H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117148
Gene: ENSMUSG00000019888
AA Change: Y42H
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
26 |
43 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134930
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138016
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000138522
AA Change: Y42H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118056
Gene: ENSMUSG00000019888
AA Change: Y42H
| 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 damaging
Transcript: ENSMUST00000156751
AA Change: Y42H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116216
Gene: ENSMUSG00000019888
AA Change: Y42H
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
26 |
43 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179929
AA Change: Y42H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135959
Gene: ENSMUSG00000019888
AA Change: Y42H
| 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 damaging
Transcript: ENSMUST00000163753
AA Change: Y42H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131551
Gene: ENSMUSG00000019888
AA Change: Y42H
| 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: ENSMUST00000219195
AA Change: Y42H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218984
|
| Meta Mutation Damage Score |
0.1363 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.7%
|
| Validation Efficiency |
96% (66/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss2 |
C |
A |
2: 155,398,828 (GRCm39) |
T425N |
probably benign |
Het |
| Adam18 |
T |
A |
8: 25,142,168 (GRCm39) |
I203L |
probably benign |
Het |
| Amigo2 |
A |
G |
15: 97,143,879 (GRCm39) |
M181T |
probably benign |
Het |
| Anks1 |
T |
A |
17: 28,277,280 (GRCm39) |
I1045N |
probably damaging |
Het |
| Ap3d1 |
C |
T |
10: 80,565,844 (GRCm39) |
V108I |
probably damaging |
Het |
| Arl8a |
C |
T |
1: 135,080,561 (GRCm39) |
R57* |
probably null |
Het |
| Atp12a |
A |
T |
14: 56,621,525 (GRCm39) |
D720V |
possibly damaging |
Het |
| Brpf3 |
T |
C |
17: 29,043,042 (GRCm39) |
|
probably null |
Het |
| C2 |
T |
C |
17: 35,091,379 (GRCm39) |
K95E |
probably benign |
Het |
| Cdk19 |
T |
C |
10: 40,352,965 (GRCm39) |
|
probably null |
Het |
| Cebpz |
T |
A |
17: 79,242,035 (GRCm39) |
I540L |
possibly damaging |
Het |
| Cep128 |
A |
G |
12: 91,333,142 (GRCm39) |
V41A |
probably damaging |
Het |
| Cog7 |
T |
C |
7: 121,580,642 (GRCm39) |
E56G |
probably damaging |
Het |
| Cylc2 |
T |
C |
4: 51,228,310 (GRCm39) |
V127A |
probably benign |
Het |
| Cyp2b23 |
A |
G |
7: 26,385,842 (GRCm39) |
V5A |
possibly damaging |
Het |
| Cyp8b1 |
A |
G |
9: 121,743,956 (GRCm39) |
Y459H |
probably benign |
Het |
| Dbpht2 |
A |
G |
12: 74,345,932 (GRCm39) |
|
noncoding transcript |
Het |
| Ddx24 |
T |
C |
12: 103,377,578 (GRCm39) |
|
probably null |
Het |
| Dgki |
C |
T |
6: 36,914,299 (GRCm39) |
C757Y |
probably damaging |
Het |
| Eef2k |
T |
A |
7: 120,485,051 (GRCm39) |
L306H |
probably damaging |
Het |
| Ephb2 |
T |
C |
4: 136,421,216 (GRCm39) |
N378S |
probably benign |
Het |
| Espl1 |
C |
T |
15: 102,229,149 (GRCm39) |
T1767I |
probably damaging |
Het |
| Fbn2 |
C |
A |
18: 58,191,534 (GRCm39) |
A1530S |
probably benign |
Het |
| Fndc11 |
A |
G |
2: 180,863,374 (GRCm39) |
S60G |
possibly damaging |
Het |
| Glb1l |
G |
T |
1: 75,176,245 (GRCm39) |
Q612K |
probably benign |
Het |
| Gpsm1 |
A |
G |
2: 26,235,199 (GRCm39) |
E371G |
probably damaging |
Het |
| Gtpbp2 |
G |
A |
17: 46,476,697 (GRCm39) |
|
probably null |
Het |
| Itch |
A |
G |
2: 155,020,945 (GRCm39) |
|
probably null |
Het |
| Itga2 |
T |
C |
13: 114,993,832 (GRCm39) |
T774A |
probably benign |
Het |
| Kit |
A |
G |
5: 75,813,467 (GRCm39) |
I881V |
probably damaging |
Het |
| Lpar5 |
T |
C |
6: 125,058,564 (GRCm39) |
L95P |
probably damaging |
Het |
| Lrp6 |
T |
C |
6: 134,430,529 (GRCm39) |
T1511A |
possibly damaging |
Het |
| Mpp3 |
G |
T |
11: 101,914,268 (GRCm39) |
T109K |
probably damaging |
Het |
| Msantd4 |
A |
G |
9: 4,385,199 (GRCm39) |
E308G |
probably damaging |
Het |
| Mug1 |
T |
C |
6: 121,857,530 (GRCm39) |
S1085P |
probably damaging |
Het |
| Myo5b |
A |
G |
18: 74,840,987 (GRCm39) |
H956R |
probably benign |
Het |
| Ncoa7 |
A |
C |
10: 30,577,988 (GRCm39) |
L132R |
probably damaging |
Het |
| Ndufc1 |
T |
C |
3: 51,315,664 (GRCm39) |
T25A |
probably benign |
Het |
| Or4a81 |
T |
C |
2: 89,619,589 (GRCm39) |
T36A |
probably damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,404,351 (GRCm39) |
V2327M |
probably damaging |
Het |
| Ppp1r9b |
T |
C |
11: 94,887,436 (GRCm39) |
Y59H |
probably damaging |
Het |
| Sema4c |
A |
T |
1: 36,592,615 (GRCm39) |
F152I |
probably benign |
Het |
| Slit2 |
A |
T |
5: 48,416,996 (GRCm39) |
Y1016F |
probably damaging |
Het |
| Spata31d1c |
T |
A |
13: 65,183,853 (GRCm39) |
V465D |
probably benign |
Het |
| Ssc5d |
T |
C |
7: 4,931,416 (GRCm39) |
C208R |
probably damaging |
Het |
| Stambpl1 |
T |
G |
19: 34,213,707 (GRCm39) |
V312G |
probably benign |
Het |
| Stim1 |
T |
A |
7: 102,003,748 (GRCm39) |
D60E |
probably benign |
Het |
| Syt13 |
T |
A |
2: 92,776,316 (GRCm39) |
V201D |
probably benign |
Het |
| Tcaim |
G |
A |
9: 122,647,838 (GRCm39) |
|
probably null |
Het |
| Tex15 |
T |
C |
8: 34,060,845 (GRCm39) |
S366P |
possibly damaging |
Het |
| Tex56 |
T |
C |
13: 35,128,233 (GRCm39) |
I150T |
possibly damaging |
Het |
| Tpte |
G |
A |
8: 22,810,913 (GRCm39) |
R190H |
probably benign |
Het |
| Vmn1r4 |
T |
C |
6: 56,934,060 (GRCm39) |
V188A |
probably damaging |
Het |
| Vmn2r88 |
A |
G |
14: 51,654,244 (GRCm39) |
D542G |
probably damaging |
Het |
| Vps33b |
T |
A |
7: 79,934,101 (GRCm39) |
I257N |
probably damaging |
Het |
| Wwox |
G |
T |
8: 115,172,118 (GRCm39) |
G71* |
probably null |
Het |
| Zc3h11a |
G |
T |
1: 133,552,446 (GRCm39) |
Q554K |
probably benign |
Het |
| Zfp947 |
T |
C |
17: 22,365,074 (GRCm39) |
K200R |
probably benign |
Het |
| Zscan12 |
T |
A |
13: 21,553,156 (GRCm39) |
C327S |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
|
| Posted On |
2014-04-24 |
Incidental Mutation