Incidental Mutation 'IGL00508:Mgat4a'
| ID |
7508 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mgat4a
|
| Ensembl Gene |
ENSMUSG00000026110 |
| Gene Name |
mannoside acetylglucosaminyltransferase 4, isoenzyme A |
| Synonyms |
9530018I07Rik, GnT-IVa |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.156)
|
| Stock # |
IGL00508
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
37478421-37580097 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 37488204 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 472
(R472*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121181
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042161]
[ENSMUST00000143636]
[ENSMUST00000151952]
[ENSMUST00000154819]
|
| AlphaFold |
Q812G0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000042161
AA Change: R481*
|
| SMART Domains |
Protein: ENSMUSP00000038894
Gene: ENSMUSG00000026110
AA Change: R481*
| 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 null
Transcript: ENSMUST00000143636
AA Change: R343*
|
| SMART Domains |
Protein: ENSMUSP00000122909
Gene: ENSMUSG00000026110
AA Change: R343*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_54
|
1 |
242 |
1.2e-123 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000151952
AA Change: R481*
|
| SMART Domains |
Protein: ENSMUSP00000114175
Gene: ENSMUSG00000026110
AA Change: R481*
| 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 null
Transcript: ENSMUST00000154819
AA Change: R472*
|
| SMART Domains |
Protein: ENSMUSP00000121181
Gene: ENSMUSG00000026110
AA Change: R472*
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
C |
13: 81,654,306 (GRCm39) |
D2188E |
probably damaging |
Het |
| Atrx |
A |
G |
X: 104,867,405 (GRCm39) |
S2026P |
probably damaging |
Het |
| Cacna1b |
A |
C |
2: 24,547,301 (GRCm39) |
|
probably null |
Het |
| Cfap46 |
C |
T |
7: 139,240,605 (GRCm39) |
S56N |
probably damaging |
Het |
| Cfap57 |
C |
T |
4: 118,438,367 (GRCm39) |
|
probably null |
Het |
| Ckap5 |
T |
G |
2: 91,436,601 (GRCm39) |
V1567G |
probably damaging |
Het |
| Cyp2c38 |
A |
T |
19: 39,449,169 (GRCm39) |
Y61* |
probably null |
Het |
| D130052B06Rik |
A |
G |
11: 33,549,402 (GRCm39) |
E7G |
unknown |
Het |
| Dhx38 |
A |
G |
8: 110,283,566 (GRCm39) |
L527P |
possibly damaging |
Het |
| Dnaaf5 |
A |
G |
5: 139,163,701 (GRCm39) |
N653D |
probably benign |
Het |
| Dnah8 |
T |
G |
17: 31,074,904 (GRCm39) |
M4541R |
probably damaging |
Het |
| Dpyd |
A |
T |
3: 118,858,636 (GRCm39) |
T617S |
probably benign |
Het |
| Fpr2 |
A |
T |
17: 18,113,034 (GRCm39) |
N10I |
probably damaging |
Het |
| Frmd4a |
A |
T |
2: 4,599,545 (GRCm39) |
K524* |
probably null |
Het |
| Gpr45 |
C |
T |
1: 43,071,452 (GRCm39) |
P32S |
possibly damaging |
Het |
| H2-Eb2 |
A |
T |
17: 34,553,341 (GRCm39) |
I176F |
probably damaging |
Het |
| Hcrtr1 |
T |
A |
4: 130,031,062 (GRCm39) |
N74I |
probably damaging |
Het |
| Ifi47 |
C |
T |
11: 48,986,241 (GRCm39) |
Q3* |
probably null |
Het |
| Krt8 |
T |
A |
15: 101,906,460 (GRCm39) |
M350L |
probably benign |
Het |
| Lilra6 |
A |
G |
7: 3,914,553 (GRCm39) |
S533P |
probably benign |
Het |
| Map1b |
A |
T |
13: 99,565,741 (GRCm39) |
S2327T |
unknown |
Het |
| Mcoln3 |
T |
A |
3: 145,839,683 (GRCm39) |
I345N |
probably damaging |
Het |
| Mettl3 |
C |
A |
14: 52,532,436 (GRCm39) |
|
probably benign |
Het |
| Micall1 |
A |
G |
15: 79,014,768 (GRCm39) |
K715E |
probably damaging |
Het |
| Pak1 |
G |
T |
7: 97,503,775 (GRCm39) |
G37C |
probably benign |
Het |
| Pomt2 |
T |
G |
12: 87,166,401 (GRCm39) |
H426P |
probably damaging |
Het |
| Pou2f3 |
G |
A |
9: 43,051,258 (GRCm39) |
P155S |
probably benign |
Het |
| Psg25 |
A |
G |
7: 18,263,656 (GRCm39) |
Y56H |
probably benign |
Het |
| Rab9 |
G |
T |
X: 165,240,860 (GRCm39) |
Y150* |
probably null |
Het |
| Rhox2g |
T |
A |
X: 36,824,463 (GRCm39) |
N152I |
probably damaging |
Het |
| Sema6d |
T |
C |
2: 124,498,844 (GRCm39) |
|
probably benign |
Het |
| Simc1 |
C |
A |
13: 54,672,989 (GRCm39) |
Q446K |
probably benign |
Het |
| Svs5 |
G |
T |
2: 164,078,962 (GRCm39) |
T315K |
possibly damaging |
Het |
| Syt9 |
C |
T |
7: 107,024,574 (GRCm39) |
R156* |
probably null |
Het |
| Tmem260 |
A |
T |
14: 48,746,578 (GRCm39) |
Y618F |
probably damaging |
Het |
| Wdr44 |
A |
G |
X: 23,666,783 (GRCm39) |
I719V |
possibly damaging |
Het |
| Zfp518a |
T |
G |
19: 40,901,914 (GRCm39) |
I614M |
probably damaging |
Het |
|
| Other mutations in Mgat4a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
R4563:Mgat4a
|
UTSW |
1 |
37,505,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2012-04-20 |
Incidental Mutation