Incidental Mutation 'R5938:Mgat4a'
| ID |
462352 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mgat4a
|
| Ensembl Gene |
ENSMUSG00000026110 |
| Gene Name |
mannoside acetylglucosaminyltransferase 4, isoenzyme A |
| Synonyms |
9530018I07Rik, GnT-IVa |
| MMRRC Submission |
044131-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.156)
|
| Stock # |
R5938 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
37478421-37580097 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 37491344 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 292
(L292F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122909
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042161]
[ENSMUST00000143636]
[ENSMUST00000151952]
[ENSMUST00000154819]
|
| AlphaFold |
Q812G0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042161
AA Change: L430F
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000038894
Gene: ENSMUSG00000026110
AA Change: L430F
| 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: L292F
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000122909
Gene: ENSMUSG00000026110
AA Change: L292F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_54
|
1 |
242 |
1.2e-123 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000151952
AA Change: L430F
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000114175
Gene: ENSMUSG00000026110
AA Change: L430F
| 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: L421F
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000121181
Gene: ENSMUSG00000026110
AA Change: L421F
| 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 |
0.1371 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.3%
|
| Validation Efficiency |
94% (63/67) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatf |
A |
C |
11: 84,333,400 (GRCm39) |
D503E |
possibly damaging |
Het |
| Bsn |
C |
T |
9: 107,990,208 (GRCm39) |
R1848Q |
possibly damaging |
Het |
| Cacna1d |
C |
T |
14: 29,825,692 (GRCm39) |
V1001I |
probably damaging |
Het |
| Calhm3 |
T |
C |
19: 47,140,516 (GRCm39) |
I192M |
probably damaging |
Het |
| Cep44 |
A |
G |
8: 57,000,457 (GRCm39) |
S19P |
possibly damaging |
Het |
| Cxcl15 |
T |
A |
5: 90,949,225 (GRCm39) |
I130K |
unknown |
Het |
| Cxcl3 |
C |
T |
5: 90,934,175 (GRCm39) |
|
probably benign |
Het |
| Emc1 |
T |
G |
4: 139,084,931 (GRCm39) |
H167Q |
probably benign |
Het |
| Epb41l3 |
T |
G |
17: 69,566,066 (GRCm39) |
Y416D |
probably damaging |
Het |
| Erbb2 |
G |
A |
11: 98,326,397 (GRCm39) |
R1007H |
probably damaging |
Het |
| Esr1 |
A |
G |
10: 4,916,245 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
G |
A |
3: 39,005,388 (GRCm39) |
R1929Q |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,807,835 (GRCm39) |
C1385S |
probably benign |
Het |
| Gbf1 |
T |
C |
19: 46,256,891 (GRCm39) |
I777T |
probably damaging |
Het |
| Gm16092 |
T |
G |
1: 85,440,689 (GRCm39) |
|
noncoding transcript |
Het |
| Greb1 |
T |
A |
12: 16,767,259 (GRCm39) |
K314N |
probably damaging |
Het |
| Iigp1c |
C |
A |
18: 60,378,724 (GRCm39) |
N86K |
probably damaging |
Het |
| Ipcef1 |
A |
G |
10: 6,858,029 (GRCm39) |
|
probably benign |
Het |
| Iqank1 |
G |
A |
15: 75,917,281 (GRCm39) |
E305K |
possibly damaging |
Het |
| Mill1 |
A |
G |
7: 17,996,613 (GRCm39) |
N143S |
probably benign |
Het |
| Mindy1 |
A |
G |
3: 95,201,067 (GRCm39) |
T324A |
probably benign |
Het |
| Mpdz |
T |
A |
4: 81,202,851 (GRCm39) |
H1882L |
probably damaging |
Het |
| Ncapg2 |
T |
A |
12: 116,393,277 (GRCm39) |
W494R |
probably damaging |
Het |
| Oas1c |
A |
T |
5: 120,943,598 (GRCm39) |
H180Q |
probably benign |
Het |
| Or2q1 |
T |
A |
6: 42,794,701 (GRCm39) |
C99S |
probably damaging |
Het |
| Or4c108 |
T |
C |
2: 88,803,357 (GRCm39) |
M293V |
probably benign |
Het |
| Or4k49 |
A |
G |
2: 111,494,708 (GRCm39) |
M46V |
probably benign |
Het |
| Or5ak20 |
A |
T |
2: 85,183,620 (GRCm39) |
S217T |
probably damaging |
Het |
| Or6c88 |
A |
G |
10: 129,407,396 (GRCm39) |
R291G |
probably damaging |
Het |
| Pelp1 |
A |
G |
11: 70,285,693 (GRCm39) |
V725A |
probably damaging |
Het |
| Plxna4 |
T |
C |
6: 32,211,541 (GRCm39) |
E666G |
probably benign |
Het |
| Pprc1 |
ATCCTCCTCCTCCTCCTCCTC |
ATCCTCCTCCTCCTCCTC |
19: 46,059,755 (GRCm39) |
|
probably benign |
Het |
| Prdm16 |
T |
C |
4: 154,432,411 (GRCm39) |
D285G |
probably damaging |
Het |
| Rasa2 |
A |
G |
9: 96,493,442 (GRCm39) |
S81P |
possibly damaging |
Het |
| Rhd |
T |
A |
4: 134,623,287 (GRCm39) |
F418Y |
probably benign |
Het |
| Rnf207 |
T |
C |
4: 152,402,385 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
C |
T |
7: 97,334,766 (GRCm39) |
R1300C |
probably damaging |
Het |
| Ryr1 |
A |
C |
7: 28,746,290 (GRCm39) |
L3830R |
probably damaging |
Het |
| Sgsh |
A |
G |
11: 119,237,625 (GRCm39) |
Y330H |
probably benign |
Het |
| Sh3bp5 |
T |
C |
14: 31,109,791 (GRCm39) |
E130G |
possibly damaging |
Het |
| Slc29a3 |
A |
G |
10: 60,588,563 (GRCm39) |
|
probably benign |
Het |
| Slco1a5 |
A |
G |
6: 142,194,443 (GRCm39) |
L400P |
probably damaging |
Het |
| Snd1 |
A |
G |
6: 28,874,858 (GRCm39) |
|
probably null |
Het |
| Sox15 |
C |
T |
11: 69,546,556 (GRCm39) |
R120C |
probably damaging |
Het |
| Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
| Tas2r110 |
A |
T |
6: 132,845,016 (GRCm39) |
I16L |
probably benign |
Het |
| Tmx3 |
T |
A |
18: 90,546,058 (GRCm39) |
V213D |
possibly damaging |
Het |
| Uba2 |
A |
T |
7: 33,864,915 (GRCm39) |
|
probably null |
Het |
| Wfikkn1 |
T |
A |
17: 26,097,886 (GRCm39) |
D112V |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,467,198 (GRCm39) |
N2452S |
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 |
|
|
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 |
|
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'- CGAACAGACACGCATTTCTG -3'
(R):5'- TGCAGATGAGCTATGTGTGAC -3'
Sequencing Primer
(F):5'- AGACACGCATTTCTGGTACTCAG -3'
(R):5'- CAGATGAGCTATGTGTGACATCAC -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation