Incidental Mutation 'R2392:Mgat4a'
| ID |
247781 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mgat4a
|
| Ensembl Gene |
ENSMUSG00000026110 |
| Gene Name |
mannoside acetylglucosaminyltransferase 4, isoenzyme A |
| Synonyms |
9530018I07Rik, GnT-IVa |
| MMRRC Submission |
040360-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
R2392 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
37478421-37580097 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37537785 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 44
(L44P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121181
(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: L44P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000038894
Gene: ENSMUSG00000026110
AA Change: L44P
| 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 benign
Transcript: ENSMUST00000143636
|
| SMART Domains |
Protein: ENSMUSP00000122909
Gene: ENSMUSG00000026110
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_54
|
1 |
242 |
1.2e-123 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148047
|
| SMART Domains |
Protein: ENSMUSP00000118692
Gene: ENSMUSG00000026110
| 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 |
probably damaging
Transcript: ENSMUST00000151952
AA Change: L44P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114175
Gene: ENSMUSG00000026110
AA Change: L44P
| 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 damaging
Transcript: ENSMUST00000154819
AA Change: L44P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121181
Gene: ENSMUSG00000026110
AA Change: L44P
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194660
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
| Validation Efficiency |
96% (53/55) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
T |
1: 71,297,264 (GRCm39) |
S2409T |
probably damaging |
Het |
| Acap2 |
A |
G |
16: 30,958,458 (GRCm39) |
F120S |
probably damaging |
Het |
| Akr1c6 |
A |
G |
13: 4,484,477 (GRCm39) |
|
probably null |
Het |
| Bptf |
C |
A |
11: 106,963,573 (GRCm39) |
A1874S |
probably damaging |
Het |
| Ccnl1 |
A |
G |
3: 65,856,173 (GRCm39) |
V244A |
probably damaging |
Het |
| Cenpe |
T |
G |
3: 134,953,874 (GRCm39) |
L1628R |
probably damaging |
Het |
| Cfap54 |
A |
G |
10: 92,860,873 (GRCm39) |
|
probably null |
Het |
| Chchd7 |
T |
A |
4: 3,943,381 (GRCm39) |
|
probably null |
Het |
| Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
| Crybg2 |
G |
T |
4: 133,799,925 (GRCm39) |
V362L |
probably benign |
Het |
| Ddx11 |
T |
A |
17: 66,456,968 (GRCm39) |
V791E |
probably damaging |
Het |
| Disp1 |
G |
A |
1: 182,868,731 (GRCm39) |
P1230S |
probably benign |
Het |
| Elp5 |
T |
C |
11: 69,865,928 (GRCm39) |
H116R |
probably benign |
Het |
| Epb42 |
T |
C |
2: 120,860,468 (GRCm39) |
E177G |
possibly damaging |
Het |
| F13a1 |
T |
A |
13: 37,127,971 (GRCm39) |
I336F |
possibly damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fcsk |
A |
G |
8: 111,616,356 (GRCm39) |
M453T |
probably benign |
Het |
| Hacd2 |
A |
T |
16: 34,926,748 (GRCm39) |
E249V |
probably benign |
Het |
| Hnrnpf |
C |
A |
6: 117,901,829 (GRCm39) |
A371D |
possibly damaging |
Het |
| Jmjd1c |
A |
G |
10: 67,065,683 (GRCm39) |
T1703A |
probably damaging |
Het |
| Kcnj13 |
G |
A |
1: 87,314,622 (GRCm39) |
T200I |
possibly damaging |
Het |
| Kif1b |
G |
A |
4: 149,305,077 (GRCm39) |
T949M |
possibly damaging |
Het |
| Klhl35 |
G |
A |
7: 99,123,031 (GRCm39) |
A552T |
possibly damaging |
Het |
| Krt74 |
A |
G |
15: 101,665,236 (GRCm39) |
|
noncoding transcript |
Het |
| Krtap14 |
T |
A |
16: 88,622,597 (GRCm39) |
|
probably null |
Het |
| Lrrc45 |
A |
G |
11: 120,610,365 (GRCm39) |
N492S |
probably benign |
Het |
| Lrrcc1 |
T |
A |
3: 14,601,580 (GRCm39) |
N114K |
probably damaging |
Het |
| Mfsd2b |
T |
C |
12: 4,915,164 (GRCm39) |
D375G |
possibly damaging |
Het |
| Mttp |
A |
C |
3: 137,800,782 (GRCm39) |
D774E |
probably damaging |
Het |
| Myo5a |
T |
C |
9: 75,116,521 (GRCm39) |
V1554A |
probably benign |
Het |
| Nes |
C |
T |
3: 87,883,250 (GRCm39) |
A503V |
probably benign |
Het |
| Nme8 |
A |
G |
13: 19,873,113 (GRCm39) |
|
probably null |
Het |
| Nr4a1 |
A |
G |
15: 101,172,075 (GRCm39) |
D583G |
possibly damaging |
Het |
| Or12d17 |
A |
G |
17: 37,777,310 (GRCm39) |
Y71C |
probably damaging |
Het |
| Or5k14 |
A |
G |
16: 58,692,797 (GRCm39) |
S239P |
probably damaging |
Het |
| Pnpla8 |
T |
A |
12: 44,358,287 (GRCm39) |
L746I |
probably damaging |
Het |
| Ppp1r7 |
A |
T |
1: 93,282,063 (GRCm39) |
I205F |
probably benign |
Het |
| Psd4 |
C |
A |
2: 24,284,679 (GRCm39) |
P181Q |
probably damaging |
Het |
| Ripor2 |
G |
A |
13: 24,890,206 (GRCm39) |
V694I |
probably benign |
Het |
| Scn10a |
A |
G |
9: 119,456,268 (GRCm39) |
S1185P |
possibly damaging |
Het |
| Sec23b |
T |
A |
2: 144,427,507 (GRCm39) |
|
probably null |
Het |
| Slfn2 |
A |
G |
11: 82,956,154 (GRCm39) |
N12S |
possibly damaging |
Het |
| Slfn4 |
A |
G |
11: 83,076,248 (GRCm39) |
K38R |
possibly damaging |
Het |
| Smarca2 |
G |
T |
19: 26,618,050 (GRCm39) |
|
probably null |
Het |
| Taar4 |
A |
G |
10: 23,837,172 (GRCm39) |
T261A |
possibly damaging |
Het |
| Tbl2 |
A |
G |
5: 135,185,368 (GRCm39) |
D159G |
probably benign |
Het |
| Tmem120a |
T |
C |
5: 135,770,892 (GRCm39) |
E55G |
probably damaging |
Het |
| Ttc21b |
A |
G |
2: 66,037,794 (GRCm39) |
|
probably null |
Het |
| Vill |
A |
T |
9: 118,896,628 (GRCm39) |
|
probably benign |
Het |
| Vmn2r28 |
A |
T |
7: 5,487,130 (GRCm39) |
M511K |
probably damaging |
Het |
| Vmn2r81 |
A |
T |
10: 79,110,516 (GRCm39) |
D543V |
probably damaging |
Het |
| Wdr95 |
A |
G |
5: 149,504,135 (GRCm39) |
T314A |
probably benign |
Het |
| Zbtb8b |
A |
G |
4: 129,326,982 (GRCm39) |
I61T |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAACATGTGCTGGCTGCTAAAC -3'
(R):5'- GTTTGGGAAAACGGCAGTAC -3'
Sequencing Primer
(F):5'- GCAGGTCCTGTTCCATACAAATCTG -3'
(R):5'- TACTGCCTTCCCCTCCAGGAG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation