Incidental Mutation 'R3786:Mgat4c'
ID |
272266 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mgat4c
|
Ensembl Gene |
ENSMUSG00000019888 |
Gene Name |
MGAT4 family, member C |
Synonyms |
9130411I17Rik |
MMRRC Submission |
040753-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3786 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
101517348-102227330 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 102220931 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 71
(H71R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151859
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020039]
[ENSMUST00000120748]
[ENSMUST00000127504]
[ENSMUST00000138522]
[ENSMUST00000156751]
[ENSMUST00000163753]
[ENSMUST00000179929]
[ENSMUST00000219195]
|
AlphaFold |
Q9D306 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020039
AA Change: H71R
PolyPhen 2
Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000020039 Gene: ENSMUSG00000019888 AA Change: H71R
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 |
possibly damaging
Transcript: ENSMUST00000120748
AA Change: H71R
PolyPhen 2
Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000114010 Gene: ENSMUSG00000019888 AA Change: H71R
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 damaging
Transcript: ENSMUST00000138522
AA Change: H71R
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000118056 Gene: ENSMUSG00000019888 AA Change: H71R
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: H71R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000116216 Gene: ENSMUSG00000019888 AA Change: H71R
Domain | Start | End | E-Value | Type |
transmembrane domain
|
26 |
43 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163753
AA Change: H71R
PolyPhen 2
Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000131551 Gene: ENSMUSG00000019888 AA Change: H71R
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 |
possibly damaging
Transcript: ENSMUST00000179929
AA Change: H71R
PolyPhen 2
Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000135959 Gene: ENSMUSG00000019888 AA Change: H71R
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: ENSMUST00000219195
AA Change: H71R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acp6 |
T |
A |
3: 97,066,605 (GRCm39) |
L41Q |
probably damaging |
Het |
Aoc1 |
T |
C |
6: 48,882,589 (GRCm39) |
L177P |
probably damaging |
Het |
Btbd7 |
C |
T |
12: 102,804,411 (GRCm39) |
E210K |
probably benign |
Het |
C1qtnf12 |
G |
A |
4: 156,050,356 (GRCm39) |
R231H |
probably damaging |
Het |
Cenpf |
T |
A |
1: 189,390,534 (GRCm39) |
E1099D |
probably damaging |
Het |
Dennd3 |
T |
C |
15: 73,419,426 (GRCm39) |
V739A |
possibly damaging |
Het |
Dmxl1 |
G |
A |
18: 49,998,189 (GRCm39) |
S763N |
probably damaging |
Het |
Dzip3 |
C |
A |
16: 48,795,906 (GRCm39) |
C155F |
probably benign |
Het |
Fam161b |
A |
T |
12: 84,408,464 (GRCm39) |
|
probably null |
Het |
Fancd2 |
T |
G |
6: 113,542,165 (GRCm39) |
S770A |
probably damaging |
Het |
Gpt2 |
G |
T |
8: 86,252,202 (GRCm39) |
V506L |
probably benign |
Het |
Hao2 |
T |
A |
3: 98,784,068 (GRCm39) |
E327V |
probably damaging |
Het |
Heatr1 |
G |
T |
13: 12,449,341 (GRCm39) |
L1946F |
probably damaging |
Het |
Hnrnpl |
A |
G |
7: 28,510,436 (GRCm39) |
|
probably benign |
Het |
Itgb1 |
T |
A |
8: 129,439,839 (GRCm39) |
I176N |
probably damaging |
Het |
Kif13b |
C |
T |
14: 65,037,849 (GRCm39) |
T1505I |
probably benign |
Het |
Magi2 |
C |
T |
5: 20,670,907 (GRCm39) |
T580M |
probably damaging |
Het |
Mettl3 |
A |
T |
14: 52,537,363 (GRCm39) |
I102N |
probably benign |
Het |
Misp |
G |
A |
10: 79,661,795 (GRCm39) |
V71I |
probably benign |
Het |
Muc2 |
A |
G |
7: 141,283,590 (GRCm39) |
Q734R |
probably benign |
Het |
Muc5b |
C |
T |
7: 141,418,853 (GRCm39) |
T3933I |
possibly damaging |
Het |
Myh13 |
A |
G |
11: 67,218,014 (GRCm39) |
N29S |
probably benign |
Het |
Myo15a |
A |
T |
11: 60,368,398 (GRCm39) |
Y386F |
probably damaging |
Het |
Neb |
C |
A |
2: 52,091,927 (GRCm39) |
V5046F |
probably damaging |
Het |
Neurod1 |
T |
A |
2: 79,284,939 (GRCm39) |
N148I |
probably damaging |
Het |
Nrg1 |
A |
T |
8: 32,311,411 (GRCm39) |
V376E |
probably damaging |
Het |
Nsa2 |
G |
T |
13: 97,272,042 (GRCm39) |
Q60K |
possibly damaging |
Het |
Odr4 |
A |
G |
1: 150,260,282 (GRCm39) |
I112T |
probably benign |
Het |
Ppp1r21 |
T |
A |
17: 88,884,555 (GRCm39) |
|
probably null |
Het |
Rala |
T |
A |
13: 18,057,031 (GRCm39) |
E185V |
probably benign |
Het |
Rhoc |
T |
C |
3: 104,700,003 (GRCm39) |
|
probably null |
Het |
Robo3 |
A |
G |
9: 37,333,521 (GRCm39) |
V708A |
probably damaging |
Het |
Rtcb |
G |
T |
10: 85,778,458 (GRCm39) |
T395K |
possibly damaging |
Het |
Rttn |
A |
G |
18: 89,056,018 (GRCm39) |
T967A |
probably benign |
Het |
Sacs |
C |
A |
14: 61,421,410 (GRCm39) |
Q116K |
probably damaging |
Het |
Smarca4 |
A |
G |
9: 21,583,355 (GRCm39) |
H1062R |
possibly damaging |
Het |
Spatc1l |
C |
T |
10: 76,399,736 (GRCm39) |
T86I |
probably benign |
Het |
Thbs4 |
T |
C |
13: 92,909,672 (GRCm39) |
N375S |
probably benign |
Het |
Tsc1 |
A |
G |
2: 28,577,154 (GRCm39) |
D1151G |
probably damaging |
Het |
Ttll1 |
T |
C |
15: 83,368,419 (GRCm39) |
D413G |
probably benign |
Het |
Wap |
G |
A |
11: 6,588,550 (GRCm39) |
Q25* |
probably null |
Het |
Wnt16 |
A |
G |
6: 22,298,021 (GRCm39) |
N296D |
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 |
|
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 |
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 |
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'- CACTGTGTAAGGAGATAGTCACC -3'
(R):5'- TTCCTACACGATAGATCACAGC -3'
Sequencing Primer
(F):5'- CTGTGTAAGGAGATAGTCACCTAACC -3'
(R):5'- GCTGTCTTAAGTTATTCCTTATTCA -3'
|
Posted On |
2015-03-25 |