Incidental Mutation 'R6459:Mgat4c'
ID |
517526 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mgat4c
|
Ensembl Gene |
ENSMUSG00000019888 |
Gene Name |
MGAT4 family, member C |
Synonyms |
9130411I17Rik |
MMRRC Submission |
044594-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6459 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
101517348-102227330 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 102220988 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 90
(L90Q)
|
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 |
probably damaging
Transcript: ENSMUST00000020039
AA Change: L90Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000020039 Gene: ENSMUSG00000019888 AA Change: L90Q
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: L90Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000114010 Gene: ENSMUSG00000019888 AA Change: L90Q
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: L90Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000118056 Gene: ENSMUSG00000019888 AA Change: L90Q
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: L90Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000131551 Gene: ENSMUSG00000019888 AA Change: L90Q
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: L90Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000135959 Gene: ENSMUSG00000019888 AA Change: L90Q
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: L90Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.6%
|
Validation Efficiency |
98% (52/53) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abr |
C |
A |
11: 76,315,815 (GRCm39) |
R583L |
probably damaging |
Het |
Acss1 |
A |
G |
2: 150,509,840 (GRCm39) |
I93T |
probably damaging |
Het |
Ank3 |
C |
T |
10: 69,827,577 (GRCm39) |
|
probably benign |
Het |
Aoah |
A |
G |
13: 21,184,112 (GRCm39) |
Y392C |
probably damaging |
Het |
Atl3 |
A |
T |
19: 7,498,163 (GRCm39) |
E186D |
probably benign |
Het |
Atp4a |
A |
G |
7: 30,411,887 (GRCm39) |
K41E |
probably benign |
Het |
Atp9a |
G |
A |
2: 168,509,933 (GRCm39) |
P500L |
probably damaging |
Het |
Ccdc88b |
A |
T |
19: 6,832,246 (GRCm39) |
V363D |
possibly damaging |
Het |
Cftr |
T |
C |
6: 18,258,235 (GRCm39) |
V532A |
probably damaging |
Het |
Cldn13 |
T |
C |
5: 134,943,769 (GRCm39) |
T139A |
possibly damaging |
Het |
Cnksr3 |
T |
C |
10: 7,076,820 (GRCm39) |
Y124C |
probably benign |
Het |
Cyb5r2 |
T |
C |
7: 107,352,462 (GRCm39) |
K161E |
possibly damaging |
Het |
Epop |
T |
C |
11: 97,519,333 (GRCm39) |
S259G |
possibly damaging |
Het |
Fhl2 |
G |
A |
1: 43,162,813 (GRCm39) |
T234I |
possibly damaging |
Het |
Fnip2 |
T |
C |
3: 79,388,941 (GRCm39) |
T567A |
possibly damaging |
Het |
Frmd4b |
A |
G |
6: 97,464,601 (GRCm39) |
C39R |
probably damaging |
Het |
Grhl3 |
T |
C |
4: 135,284,744 (GRCm39) |
N116S |
possibly damaging |
Het |
Igkv14-111 |
A |
T |
6: 68,233,725 (GRCm39) |
R75S |
probably benign |
Het |
Il16 |
A |
T |
7: 83,371,529 (GRCm39) |
D92E |
probably damaging |
Het |
Il16 |
C |
A |
7: 83,371,536 (GRCm39) |
G90V |
probably damaging |
Het |
Ipo11 |
T |
C |
13: 107,002,277 (GRCm39) |
|
probably null |
Het |
Kng2 |
A |
G |
16: 22,830,865 (GRCm39) |
I148T |
probably damaging |
Het |
Lrrc41 |
T |
C |
4: 115,945,977 (GRCm39) |
S231P |
possibly damaging |
Het |
Maneal |
C |
T |
4: 124,750,635 (GRCm39) |
V374I |
possibly damaging |
Het |
Mrps28 |
A |
G |
3: 8,965,040 (GRCm39) |
|
probably null |
Het |
Ncapd3 |
A |
G |
9: 26,963,051 (GRCm39) |
D452G |
probably benign |
Het |
Nefh |
T |
C |
11: 4,889,551 (GRCm39) |
T1023A |
unknown |
Het |
Nipa1 |
A |
G |
7: 55,629,354 (GRCm39) |
V253A |
probably benign |
Het |
Or5ac17 |
C |
T |
16: 59,036,383 (GRCm39) |
V198M |
probably benign |
Het |
Or5b97 |
G |
T |
19: 12,878,369 (GRCm39) |
F258L |
possibly damaging |
Het |
Or5m11 |
G |
T |
2: 85,781,862 (GRCm39) |
G152C |
probably damaging |
Het |
Or8d23 |
A |
G |
9: 38,841,961 (GRCm39) |
S165G |
probably benign |
Het |
Or8k41 |
T |
A |
2: 86,313,573 (GRCm39) |
H171L |
probably benign |
Het |
Pak1 |
A |
G |
7: 97,557,088 (GRCm39) |
D495G |
probably benign |
Het |
Pcm1 |
G |
A |
8: 41,714,073 (GRCm39) |
R213H |
probably damaging |
Het |
Prg4 |
T |
C |
1: 150,330,052 (GRCm39) |
|
probably benign |
Het |
Proser1 |
C |
T |
3: 53,385,750 (GRCm39) |
T544M |
possibly damaging |
Het |
Rftn1 |
T |
C |
17: 50,354,334 (GRCm39) |
M343V |
probably benign |
Het |
Ryr1 |
T |
C |
7: 28,715,079 (GRCm39) |
I4656V |
probably benign |
Het |
Scg2 |
T |
A |
1: 79,414,007 (GRCm39) |
N239Y |
probably damaging |
Het |
Sec16a |
C |
A |
2: 26,313,512 (GRCm39) |
M1949I |
probably benign |
Het |
Sipa1l2 |
A |
G |
8: 126,171,223 (GRCm39) |
|
probably null |
Het |
Slc10a2 |
A |
C |
8: 5,148,581 (GRCm39) |
|
probably null |
Het |
Slc25a16 |
C |
T |
10: 62,773,256 (GRCm39) |
Q164* |
probably null |
Het |
Specc1l |
T |
C |
10: 75,082,001 (GRCm39) |
Y483H |
probably damaging |
Het |
Ston1 |
T |
C |
17: 88,943,896 (GRCm39) |
V434A |
probably benign |
Het |
Tarbp2 |
A |
G |
15: 102,426,914 (GRCm39) |
|
probably benign |
Het |
Trappc8 |
C |
T |
18: 20,969,925 (GRCm39) |
V1022M |
probably benign |
Het |
Tsen54 |
T |
C |
11: 115,712,506 (GRCm39) |
V269A |
probably damaging |
Het |
Vps13a |
A |
T |
19: 16,641,382 (GRCm39) |
M78K |
possibly damaging |
Het |
Vwa5b2 |
A |
G |
16: 20,413,429 (GRCm39) |
T215A |
probably damaging |
Het |
Zc3h7a |
A |
G |
16: 10,971,025 (GRCm39) |
Y335H |
probably damaging |
Het |
Zfp994 |
T |
A |
17: 22,419,527 (GRCm39) |
Q474L |
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 |
|
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 |
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 |
|
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'- GGAGATAGTCACCTAACCTGTG -3'
(R):5'- CTGGGTTCTAATGTATTTGCAAAGC -3'
Sequencing Primer
(F):5'- TCACCTAACCTGTGACTAACTATTAC -3'
(R):5'- GTATTTGCAAAGCTTGAAGAAATGAG -3'
|
Posted On |
2018-05-21 |