Incidental Mutation 'R4563:Mgat4a'
| ID |
343177 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mgat4a
|
| Ensembl Gene |
ENSMUSG00000026110 |
| Gene Name |
mannoside acetylglucosaminyltransferase 4, isoenzyme A |
| Synonyms |
9530018I07Rik, GnT-IVa |
| MMRRC Submission |
041788-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.156)
|
| Stock # |
R4563 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
37478421-37580097 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37505660 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 43
(D43G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118692
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042161]
[ENSMUST00000143636]
[ENSMUST00000148047]
[ENSMUST00000149791]
[ENSMUST00000151952]
[ENSMUST00000154819]
|
| AlphaFold |
Q812G0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042161
AA Change: D181G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000038894
Gene: ENSMUSG00000026110
AA Change: D181G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
coiled coil region
|
28 |
63 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_54
|
75 |
380 |
5.8e-137 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000143636
AA Change: D43G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122909
Gene: ENSMUSG00000026110
AA Change: D43G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_54
|
1 |
242 |
1.2e-123 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000148047
AA Change: D43G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118692
Gene: ENSMUSG00000026110
AA Change: D43G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_54
|
1 |
112 |
5e-54 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149791
AA Change: I42V
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000115778
Gene: ENSMUSG00000026110
AA Change: I42V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_54
|
1 |
62 |
2.9e-17 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000151952
AA Change: D181G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114175
Gene: ENSMUSG00000026110
AA Change: D181G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
coiled coil region
|
28 |
63 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_54
|
86 |
380 |
7.5e-139 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154819
AA Change: D172G
PolyPhen 2
Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000121181
Gene: ENSMUSG00000026110
AA Change: D172G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
coiled coil region
|
28 |
63 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_54
|
71 |
371 |
4.8e-137 |
PFAM |
|
| Meta Mutation Damage Score |
0.3351 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a key glycosyltransferase that regulates the formation of tri- and multiantennary branching structures in the Golgi apparatus. The encoded protein, in addition to the related isoenzyme B, catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc in a beta-1,4 linkage to the Man-alpha-1,3-Man-beta-1,4-GlcNAc arm of R-Man-alpha-1,6(GlcNAc-beta-1,2-Man-alpha-1,3)Man-beta-1,4-GlcNAc-beta-1,4-GlcNAc-beta-1-Asn. The encoded protein may play a role in regulating the availability of serum glycoproteins, oncogenesis, and differentiation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele show defects in glucose-stimulated insulin secretion, impaired cellular glucose import, increased susceptibility to weight gain, hyperglycemia, impaired glucose tolerance, insulin resistance, high free fatty acid and triglyceride levels, and hepatic steatosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam17 |
A |
G |
12: 21,382,089 (GRCm39) |
C591R |
probably damaging |
Het |
| Bace2 |
G |
A |
16: 97,223,180 (GRCm39) |
R368Q |
probably damaging |
Het |
| Calm5 |
C |
A |
13: 3,904,402 (GRCm39) |
S32* |
probably null |
Het |
| Ccdc198 |
T |
A |
14: 49,471,955 (GRCm39) |
M152L |
probably benign |
Het |
| Cln3 |
G |
T |
7: 126,171,730 (GRCm39) |
S346R |
probably damaging |
Het |
| G6pd2 |
G |
A |
5: 61,967,686 (GRCm39) |
R487H |
possibly damaging |
Het |
| Glipr2 |
A |
T |
4: 43,977,600 (GRCm39) |
N77Y |
probably damaging |
Het |
| Huwe1 |
A |
T |
X: 150,646,955 (GRCm39) |
I682F |
probably damaging |
Het |
| Kbtbd2 |
A |
G |
6: 56,766,264 (GRCm39) |
V37A |
probably benign |
Het |
| Kdm7a |
C |
T |
6: 39,129,757 (GRCm39) |
R473Q |
probably damaging |
Het |
| Lrrc71 |
T |
A |
3: 87,652,715 (GRCm39) |
|
probably benign |
Het |
| Mcm3 |
G |
T |
1: 20,879,869 (GRCm39) |
R543S |
probably benign |
Het |
| Mphosph8 |
T |
C |
14: 56,928,457 (GRCm39) |
Y703H |
probably benign |
Het |
| Ncf2 |
T |
C |
1: 152,683,976 (GRCm39) |
|
probably benign |
Het |
| Nek6 |
T |
G |
2: 38,475,305 (GRCm39) |
V282G |
probably damaging |
Het |
| Nhlrc1 |
T |
C |
13: 47,167,666 (GRCm39) |
D197G |
possibly damaging |
Het |
| Nup93 |
G |
T |
8: 95,034,520 (GRCm39) |
V612F |
probably damaging |
Het |
| Or5be3 |
C |
T |
2: 86,864,028 (GRCm39) |
C179Y |
probably damaging |
Het |
| Or9i14 |
A |
G |
19: 13,792,646 (GRCm39) |
F103L |
probably benign |
Het |
| Pafah1b2 |
T |
C |
9: 45,887,404 (GRCm39) |
K36E |
probably damaging |
Het |
| Paqr9 |
A |
G |
9: 95,442,997 (GRCm39) |
E329G |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,571,383 (GRCm39) |
Q256R |
probably damaging |
Het |
| Pctp |
A |
T |
11: 89,879,578 (GRCm39) |
D94E |
probably benign |
Het |
| Pde8a |
T |
A |
7: 80,958,568 (GRCm39) |
Y315* |
probably null |
Het |
| Pex14 |
A |
T |
4: 149,126,225 (GRCm39) |
V41D |
probably damaging |
Het |
| Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
| Rasal2 |
T |
C |
1: 157,003,561 (GRCm39) |
K366R |
probably damaging |
Het |
| Rprd1a |
A |
C |
18: 24,640,160 (GRCm39) |
|
probably null |
Het |
| Senp8 |
A |
C |
9: 59,657,546 (GRCm39) |
M1R |
probably null |
Het |
| Slc49a4 |
T |
C |
16: 35,518,312 (GRCm39) |
Y467C |
probably damaging |
Het |
| Slco1b2 |
A |
G |
6: 141,616,893 (GRCm39) |
T409A |
probably benign |
Het |
| Strc |
T |
C |
2: 121,196,286 (GRCm39) |
T1581A |
probably benign |
Het |
| Tmem117 |
T |
C |
15: 94,536,035 (GRCm39) |
I23T |
possibly damaging |
Het |
| Ttc13 |
A |
G |
8: 125,402,016 (GRCm39) |
L657P |
probably damaging |
Het |
| Ube4b |
A |
G |
4: 149,443,622 (GRCm39) |
|
probably benign |
Het |
| Vmn1r125 |
A |
G |
7: 21,006,308 (GRCm39) |
T69A |
probably damaging |
Het |
|
| Other mutations in Mgat4a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00508:Mgat4a
|
APN |
1 |
37,488,204 (GRCm39) |
nonsense |
probably null |
|
|
IGL01720:Mgat4a
|
APN |
1 |
37,483,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02103:Mgat4a
|
APN |
1 |
37,502,007 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03177:Mgat4a
|
APN |
1 |
37,483,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Arboreal
|
UTSW |
1 |
37,529,360 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Glider
|
UTSW |
1 |
37,495,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0090:Mgat4a
|
UTSW |
1 |
37,529,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0269:Mgat4a
|
UTSW |
1 |
37,529,388 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0635:Mgat4a
|
UTSW |
1 |
37,491,375 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1114:Mgat4a
|
UTSW |
1 |
37,503,487 (GRCm39) |
splice site |
probably benign |
|
|
R1120:Mgat4a
|
UTSW |
1 |
37,491,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1466:Mgat4a
|
UTSW |
1 |
37,503,487 (GRCm39) |
splice site |
probably benign |
|
|
R1940:Mgat4a
|
UTSW |
1 |
37,575,118 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2257:Mgat4a
|
UTSW |
1 |
37,529,394 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2293:Mgat4a
|
UTSW |
1 |
37,491,673 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2370:Mgat4a
|
UTSW |
1 |
37,503,614 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2392:Mgat4a
|
UTSW |
1 |
37,537,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3952:Mgat4a
|
UTSW |
1 |
37,489,495 (GRCm39) |
splice site |
probably benign |
|
|
R5424:Mgat4a
|
UTSW |
1 |
37,505,636 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5494:Mgat4a
|
UTSW |
1 |
37,493,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5505:Mgat4a
|
UTSW |
1 |
37,535,035 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5938:Mgat4a
|
UTSW |
1 |
37,491,344 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6237:Mgat4a
|
UTSW |
1 |
37,495,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6589:Mgat4a
|
UTSW |
1 |
37,483,976 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6817:Mgat4a
|
UTSW |
1 |
37,488,204 (GRCm39) |
nonsense |
probably null |
|
|
R6825:Mgat4a
|
UTSW |
1 |
37,503,515 (GRCm39) |
nonsense |
probably null |
|
|
R7402:Mgat4a
|
UTSW |
1 |
37,493,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7507:Mgat4a
|
UTSW |
1 |
37,491,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7789:Mgat4a
|
UTSW |
1 |
37,529,360 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8835:Mgat4a
|
UTSW |
1 |
37,491,372 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9400:Mgat4a
|
UTSW |
1 |
37,502,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9424:Mgat4a
|
UTSW |
1 |
37,529,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0063:Mgat4a
|
UTSW |
1 |
37,501,971 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Mgat4a
|
UTSW |
1 |
37,529,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCATGCACAGCTATGTAATG -3'
(R):5'- TGGCCCACTTTGAGTTTGGC -3'
Sequencing Primer
(F):5'- TGCATGCACAGCTATGTAATGAGAAC -3'
(R):5'- GTTACTCCAATTCCAGGGGAACTG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation