Incidental Mutation 'R5305:Mgat4c'
ID |
404513 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mgat4c
|
Ensembl Gene |
ENSMUSG00000019888 |
Gene Name |
MGAT4 family, member C |
Synonyms |
9130411I17Rik |
MMRRC Submission |
042888-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5305 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
101517348-102227330 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 102225140 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 451
(F451L)
|
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 |
possibly damaging
Transcript: ENSMUST00000020039
AA Change: F451L
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000020039 Gene: ENSMUSG00000019888 AA Change: F451L
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: F451L
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000114010 Gene: ENSMUSG00000019888 AA Change: F451L
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 |
possibly damaging
Transcript: ENSMUST00000163753
AA Change: F451L
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000131551 Gene: ENSMUSG00000019888 AA Change: F451L
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: F451L
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000135959 Gene: ENSMUSG00000019888 AA Change: F451L
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 |
0.0698 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
99% (67/68) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930407I10Rik |
G |
A |
15: 81,943,420 (GRCm39) |
V11M |
possibly damaging |
Het |
Acot8 |
A |
G |
2: 164,637,685 (GRCm39) |
V179A |
probably benign |
Het |
Actb |
A |
G |
5: 142,889,985 (GRCm39) |
I194T |
probably benign |
Het |
Ap1g2 |
A |
G |
14: 55,336,533 (GRCm39) |
V787A |
probably benign |
Het |
Areg |
G |
T |
5: 91,292,308 (GRCm39) |
A203S |
probably damaging |
Het |
Asb13 |
A |
T |
13: 3,693,479 (GRCm39) |
D79V |
probably damaging |
Het |
Atad2b |
C |
T |
12: 5,015,855 (GRCm39) |
T527I |
probably damaging |
Het |
Auts2 |
T |
G |
5: 131,472,632 (GRCm39) |
|
probably benign |
Het |
Ceacam3 |
T |
A |
7: 16,885,501 (GRCm39) |
S35T |
probably damaging |
Het |
Crebzf |
T |
C |
7: 90,093,342 (GRCm39) |
|
probably benign |
Het |
Cttnbp2 |
G |
T |
6: 18,381,097 (GRCm39) |
N1366K |
probably benign |
Het |
Cubn |
C |
A |
2: 13,393,750 (GRCm39) |
C1417F |
probably damaging |
Het |
Dot1l |
C |
T |
10: 80,626,627 (GRCm39) |
P162S |
probably benign |
Het |
Epc1 |
G |
A |
18: 6,490,690 (GRCm39) |
|
probably benign |
Het |
Eps8l1 |
A |
G |
7: 4,480,895 (GRCm39) |
S613G |
possibly damaging |
Het |
Erich6 |
T |
G |
3: 58,532,537 (GRCm39) |
I357L |
probably benign |
Het |
Foxj3 |
T |
A |
4: 119,477,155 (GRCm39) |
S288T |
possibly damaging |
Het |
Gls2 |
T |
G |
10: 128,040,578 (GRCm39) |
Y326* |
probably null |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
Gm7535 |
T |
C |
17: 18,132,061 (GRCm39) |
|
probably benign |
Het |
Gxylt2 |
T |
G |
6: 100,764,179 (GRCm39) |
L288R |
probably damaging |
Het |
Kdm4a |
T |
C |
4: 118,017,698 (GRCm39) |
Y456C |
probably damaging |
Het |
Mrpl20 |
G |
A |
4: 155,888,162 (GRCm39) |
R17H |
probably damaging |
Het |
Mtf2 |
A |
G |
5: 108,252,365 (GRCm39) |
T465A |
possibly damaging |
Het |
Mycbp2 |
A |
C |
14: 103,583,757 (GRCm39) |
L66R |
probably benign |
Het |
Nos1ap |
T |
A |
1: 170,176,968 (GRCm39) |
K145M |
probably damaging |
Het |
Nr2e1 |
A |
T |
10: 42,447,483 (GRCm39) |
Y176* |
probably null |
Het |
Obscn |
T |
C |
11: 58,903,541 (GRCm39) |
T7628A |
possibly damaging |
Het |
Or7a37 |
A |
T |
10: 78,806,390 (GRCm39) |
K302N |
possibly damaging |
Het |
Pitx2 |
T |
G |
3: 129,009,489 (GRCm39) |
V129G |
probably damaging |
Het |
Polr2e |
A |
G |
10: 79,873,897 (GRCm39) |
|
probably benign |
Het |
Ppard |
A |
G |
17: 28,517,832 (GRCm39) |
D300G |
probably damaging |
Het |
Ppp1r27 |
A |
G |
11: 120,441,743 (GRCm39) |
V46A |
probably benign |
Het |
Prex2 |
T |
A |
1: 11,177,902 (GRCm39) |
V332E |
probably damaging |
Het |
Prss30 |
T |
G |
17: 24,191,750 (GRCm39) |
Y257S |
probably benign |
Het |
Ptprd |
T |
C |
4: 75,900,863 (GRCm39) |
E1082G |
probably damaging |
Het |
Rab3c |
T |
A |
13: 110,317,611 (GRCm39) |
R89S |
probably damaging |
Het |
Rimbp2 |
A |
G |
5: 128,874,445 (GRCm39) |
V389A |
possibly damaging |
Het |
Rims1 |
T |
A |
1: 22,635,623 (GRCm39) |
R119S |
probably damaging |
Het |
Sema3b |
T |
C |
9: 107,480,536 (GRCm39) |
H137R |
probably null |
Het |
Sf3b4 |
G |
C |
3: 96,080,958 (GRCm39) |
A89P |
probably damaging |
Het |
Sgta |
T |
A |
10: 80,882,081 (GRCm39) |
Q298L |
probably damaging |
Het |
Skic3 |
G |
A |
13: 76,295,886 (GRCm39) |
E1050K |
possibly damaging |
Het |
Spag9 |
C |
A |
11: 93,959,838 (GRCm39) |
D342E |
probably damaging |
Het |
Sry |
T |
A |
Y: 2,662,982 (GRCm39) |
D226V |
unknown |
Het |
Sv2a |
A |
G |
3: 96,092,774 (GRCm39) |
E158G |
possibly damaging |
Het |
Sytl2 |
A |
G |
7: 90,031,071 (GRCm39) |
|
probably benign |
Het |
Thbs3 |
T |
A |
3: 89,125,283 (GRCm39) |
|
probably benign |
Het |
Top3a |
A |
T |
11: 60,653,365 (GRCm39) |
N56K |
possibly damaging |
Het |
Tyk2 |
T |
C |
9: 21,020,677 (GRCm39) |
D918G |
probably damaging |
Het |
Uqcrh |
A |
G |
4: 115,924,481 (GRCm39) |
|
probably benign |
Het |
Vmn1r61 |
A |
G |
7: 5,613,814 (GRCm39) |
S167P |
probably damaging |
Het |
Wdr25 |
C |
A |
12: 108,992,366 (GRCm39) |
H74N |
probably damaging |
Het |
Zfp458 |
T |
C |
13: 67,404,382 (GRCm39) |
N686D |
probably benign |
Het |
Zfp574 |
T |
A |
7: 24,780,515 (GRCm39) |
H512Q |
|
Het |
Zfp976 |
A |
T |
7: 42,262,902 (GRCm39) |
Y312N |
probably benign |
Het |
Zscan4c |
G |
A |
7: 10,743,462 (GRCm39) |
V354I |
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 |
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 |
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'- TCAATGGGAGATACGTTCGTTATTG -3'
(R):5'- ATTGGTTGCCCTCCAAAAGAC -3'
Sequencing Primer
(F):5'- CGTTCGTTATTGTATTTGAAAATCCG -3'
(R):5'- TTGGTTGCCCTCCAAAAGACTAAAG -3'
|
Posted On |
2016-07-22 |