Incidental Mutation 'IGL02103:Mgat4a'
| ID |
279814 |
| 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: 0.143)
|
| Stock # |
IGL02103
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
37478421-37580097 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 37502007 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 247
(M247K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114175
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042161]
[ENSMUST00000143636]
[ENSMUST00000148047]
[ENSMUST00000149791]
[ENSMUST00000151952]
[ENSMUST00000154819]
|
| AlphaFold |
Q812G0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042161
AA Change: M247K
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000038894
Gene: ENSMUSG00000026110
AA Change: M247K
| 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 |
possibly damaging
Transcript: ENSMUST00000143636
AA Change: M109K
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000122909
Gene: ENSMUSG00000026110
AA Change: M109K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_54
|
1 |
242 |
1.2e-123 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000148047
AA Change: M109K
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000118692
Gene: ENSMUSG00000026110
AA Change: M109K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_54
|
1 |
112 |
5e-54 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149791
|
| SMART Domains |
Protein: ENSMUSP00000115778
Gene: ENSMUSG00000026110
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_54
|
1 |
62 |
2.9e-17 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000151952
AA Change: M247K
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000114175
Gene: ENSMUSG00000026110
AA Change: M247K
| 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: M238K
PolyPhen 2
Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000121181
Gene: ENSMUSG00000026110
AA Change: M238K
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd4 |
G |
A |
12: 84,659,138 (GRCm39) |
T206M |
probably benign |
Het |
| Adcy3 |
T |
A |
12: 4,184,390 (GRCm39) |
V22D |
possibly damaging |
Het |
| Alb |
G |
A |
5: 90,611,990 (GRCm39) |
E140K |
probably benign |
Het |
| Aph1a |
G |
A |
3: 95,803,125 (GRCm39) |
V193I |
probably damaging |
Het |
| Asb2 |
G |
A |
12: 103,299,755 (GRCm39) |
R178* |
probably null |
Het |
| Celf3 |
A |
T |
3: 94,394,108 (GRCm39) |
Q137L |
probably damaging |
Het |
| Cmya5 |
T |
C |
13: 93,228,635 (GRCm39) |
D2151G |
probably benign |
Het |
| Cuedc1 |
T |
A |
11: 88,079,625 (GRCm39) |
S353T |
probably damaging |
Het |
| Dlg5 |
A |
C |
14: 24,194,414 (GRCm39) |
L1709R |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,229,199 (GRCm39) |
I1939T |
possibly damaging |
Het |
| Emx2 |
A |
T |
19: 59,450,130 (GRCm39) |
N149I |
probably benign |
Het |
| Fancm |
A |
G |
12: 65,142,558 (GRCm39) |
D472G |
probably benign |
Het |
| Fasn |
T |
C |
11: 120,702,762 (GRCm39) |
Y1700C |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,180,122 (GRCm39) |
R1406S |
probably damaging |
Het |
| Fat4 |
C |
A |
3: 38,943,348 (GRCm39) |
T747K |
probably damaging |
Het |
| Fer |
A |
G |
17: 64,445,923 (GRCm39) |
M795V |
probably benign |
Het |
| Gm5916 |
A |
G |
9: 36,039,970 (GRCm39) |
L6P |
probably damaging |
Het |
| Gpr139 |
A |
G |
7: 118,744,355 (GRCm39) |
F77L |
possibly damaging |
Het |
| Kcnu1 |
T |
C |
8: 26,395,976 (GRCm39) |
S654P |
possibly damaging |
Het |
| Kdm5c |
T |
A |
X: 151,031,762 (GRCm39) |
F408L |
probably damaging |
Het |
| Kel |
A |
G |
6: 41,679,323 (GRCm39) |
S147P |
probably benign |
Het |
| Klra5 |
A |
T |
6: 129,888,307 (GRCm39) |
|
probably null |
Het |
| Mastl |
A |
G |
2: 23,030,010 (GRCm39) |
S239P |
probably benign |
Het |
| Med18 |
A |
T |
4: 132,186,977 (GRCm39) |
V174D |
probably damaging |
Het |
| Mx2 |
A |
C |
16: 97,345,795 (GRCm39) |
D71A |
probably damaging |
Het |
| Nxt1 |
G |
T |
2: 148,517,564 (GRCm39) |
E102* |
probably null |
Het |
| Or14j1 |
A |
G |
17: 38,146,169 (GRCm39) |
Q93R |
possibly damaging |
Het |
| Or3a1 |
A |
G |
11: 74,225,862 (GRCm39) |
F65S |
probably damaging |
Het |
| Or7g16 |
T |
C |
9: 18,727,005 (GRCm39) |
N195S |
probably damaging |
Het |
| Pcdhb16 |
T |
A |
18: 37,613,161 (GRCm39) |
V707E |
probably benign |
Het |
| Pdzrn4 |
T |
A |
15: 92,667,768 (GRCm39) |
V640E |
probably damaging |
Het |
| Piwil4 |
T |
C |
9: 14,637,282 (GRCm39) |
|
probably null |
Het |
| Pla2g4a |
A |
T |
1: 149,776,950 (GRCm39) |
D55E |
probably damaging |
Het |
| Plekhg2 |
C |
A |
7: 28,059,501 (GRCm39) |
R1276L |
probably damaging |
Het |
| Psd4 |
G |
A |
2: 24,290,540 (GRCm39) |
W539* |
probably null |
Het |
| Rae1 |
G |
A |
2: 172,845,306 (GRCm39) |
E33K |
probably damaging |
Het |
| Rbm12b1 |
T |
A |
4: 12,145,563 (GRCm39) |
F512I |
probably damaging |
Het |
| Rfx6 |
A |
G |
10: 51,602,952 (GRCm39) |
D823G |
possibly damaging |
Het |
| Samt3 |
A |
T |
X: 85,090,759 (GRCm39) |
Q217L |
probably damaging |
Het |
| Selenbp2 |
A |
G |
3: 94,605,438 (GRCm39) |
N134S |
probably null |
Het |
| Selenoo |
T |
C |
15: 88,984,173 (GRCm39) |
V663A |
probably damaging |
Het |
| Sp4 |
G |
T |
12: 118,263,284 (GRCm39) |
T254N |
probably damaging |
Het |
| Spdya |
A |
G |
17: 71,885,242 (GRCm39) |
K232R |
probably benign |
Het |
| Stom |
A |
T |
2: 35,210,401 (GRCm39) |
V201E |
probably benign |
Het |
| Sycp3 |
A |
G |
10: 88,302,334 (GRCm39) |
K108R |
possibly damaging |
Het |
| Usp2 |
A |
G |
9: 44,000,425 (GRCm39) |
|
probably benign |
Het |
| Vmn1r226 |
T |
C |
17: 20,907,926 (GRCm39) |
S53P |
probably damaging |
Het |
| Vmn2r14 |
C |
T |
5: 109,372,349 (GRCm39) |
G47D |
probably damaging |
Het |
| Vwf |
T |
G |
6: 125,623,318 (GRCm39) |
L1805W |
probably damaging |
Het |
| Washc3 |
A |
T |
10: 88,037,687 (GRCm39) |
Q22L |
probably damaging |
Het |
| Wdr81 |
T |
A |
11: 75,335,546 (GRCm39) |
D1761V |
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 |
|
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 |
2015-04-16 |
Incidental Mutation