Incidental Mutation 'R3780:Mgat4c'
ID |
272014 |
Institutional Source |
Beutler Lab
|
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 # |
R3780 (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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
93% (40/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930432E11Rik |
G |
T |
7: 29,260,263 (GRCm39) |
|
noncoding transcript |
Het |
Adam21 |
C |
T |
12: 81,606,047 (GRCm39) |
V572I |
probably damaging |
Het |
Arhgap32 |
T |
A |
9: 32,063,315 (GRCm39) |
|
probably null |
Het |
Carmil1 |
A |
T |
13: 24,321,152 (GRCm39) |
I281N |
probably damaging |
Het |
Cdh12 |
T |
A |
15: 21,586,063 (GRCm39) |
|
probably null |
Het |
Cdh20 |
T |
A |
1: 109,976,734 (GRCm39) |
V133E |
probably benign |
Het |
Cntrob |
A |
G |
11: 69,193,708 (GRCm39) |
L814P |
probably damaging |
Het |
Csmd1 |
T |
C |
8: 16,252,000 (GRCm39) |
N952S |
probably damaging |
Het |
Cspg4 |
A |
G |
9: 56,795,517 (GRCm39) |
Y1084C |
probably damaging |
Het |
Dlg5 |
A |
G |
14: 24,240,378 (GRCm39) |
|
probably benign |
Het |
Glis2 |
T |
C |
16: 4,431,760 (GRCm39) |
|
probably benign |
Het |
Hif3a |
T |
C |
7: 16,788,638 (GRCm39) |
E111G |
probably damaging |
Het |
Kctd4 |
A |
G |
14: 76,200,251 (GRCm39) |
D74G |
probably benign |
Het |
Kif21b |
A |
T |
1: 136,083,964 (GRCm39) |
K737M |
probably damaging |
Het |
Ktn1 |
G |
A |
14: 47,943,860 (GRCm39) |
|
probably benign |
Het |
Lama2 |
A |
T |
10: 27,335,335 (GRCm39) |
N113K |
probably damaging |
Het |
Ltv1 |
A |
G |
10: 13,054,944 (GRCm39) |
S409P |
probably benign |
Het |
Myh6 |
A |
G |
14: 55,201,415 (GRCm39) |
F95L |
probably benign |
Het |
Ndufa4l2 |
A |
G |
10: 127,351,289 (GRCm39) |
I27V |
probably benign |
Het |
Npepl1 |
T |
G |
2: 173,962,447 (GRCm39) |
L371R |
probably damaging |
Het |
Nudt9 |
A |
G |
5: 104,194,972 (GRCm39) |
T23A |
probably benign |
Het |
Ocrl |
G |
A |
X: 47,027,180 (GRCm39) |
V416I |
probably benign |
Het |
Or2g1 |
T |
G |
17: 38,106,895 (GRCm39) |
C187G |
probably damaging |
Het |
Padi2 |
C |
T |
4: 140,645,048 (GRCm39) |
T94I |
probably benign |
Het |
Pcca |
G |
A |
14: 122,922,297 (GRCm39) |
E353K |
probably damaging |
Het |
Pcdhgb2 |
T |
A |
18: 37,824,810 (GRCm39) |
N600K |
probably damaging |
Het |
Pex5l |
A |
G |
3: 33,004,993 (GRCm39) |
L593P |
probably damaging |
Het |
Rbp2 |
G |
A |
9: 98,380,879 (GRCm39) |
D62N |
probably benign |
Het |
Rock1 |
G |
T |
18: 10,067,575 (GRCm39) |
N1319K |
probably benign |
Het |
Ror1 |
A |
C |
4: 100,269,314 (GRCm39) |
D384A |
probably benign |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
Sacm1l |
A |
T |
9: 123,381,855 (GRCm39) |
E152D |
probably benign |
Het |
Seh1l |
T |
C |
18: 67,908,087 (GRCm39) |
V3A |
probably benign |
Het |
Serpinb6d |
T |
A |
13: 33,848,097 (GRCm39) |
D20E |
probably benign |
Het |
Serpini1 |
T |
G |
3: 75,521,942 (GRCm39) |
N144K |
probably damaging |
Het |
Slc22a23 |
G |
A |
13: 34,528,323 (GRCm39) |
T153I |
probably benign |
Het |
Slfn8 |
A |
G |
11: 82,908,280 (GRCm39) |
S88P |
probably benign |
Het |
Stpg3 |
T |
A |
2: 25,103,875 (GRCm39) |
M154L |
probably benign |
Het |
Vmn2r115 |
G |
A |
17: 23,564,146 (GRCm39) |
C106Y |
probably damaging |
Het |
Washc3 |
C |
T |
10: 88,055,122 (GRCm39) |
T112M |
probably benign |
Het |
Zfp280d |
C |
T |
9: 72,229,806 (GRCm39) |
T346M |
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 |
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 |
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 |
PCR Primer
(F):5'- ACGTCTGGCCCATTTCTTATTAATG -3'
(R):5'- AAGATGTCATTCTGCCGGTCC -3'
Sequencing Primer
(F):5'- GTTCTATCAAGAAATGCCCTGCG -3'
(R):5'- GCCGGTCCTCTGTTCCAG -3'
|
Posted On |
2015-03-25 |