Incidental Mutation 'R4400:Galnt2'
| ID |
326592 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Galnt2
|
| Ensembl Gene |
ENSMUSG00000089704 |
| Gene Name |
polypeptide N-acetylgalactosaminyltransferase 2 |
| Synonyms |
ppGaNTase-T2 |
| MMRRC Submission |
041131-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
R4400 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
124958133-125072461 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 125051042 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 157
(K157E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118564
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034458]
[ENSMUST00000127664]
|
| AlphaFold |
Q6PB93 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034458
AA Change: K191E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000034458
Gene: ENSMUSG00000089704
AA Change: K191E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
25 |
39 |
N/A |
INTRINSIC |
|
Pfam:Glycos_transf_2
|
138 |
321 |
8.3e-31 |
PFAM |
|
Pfam:Glyco_transf_7C
|
295 |
365 |
5.4e-8 |
PFAM |
|
RICIN
|
440 |
565 |
9.28e-27 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000127664
AA Change: K157E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329
AA Change: K157E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glycos_transf_2
|
104 |
287 |
7.4e-31 |
PFAM |
|
Pfam:Glyco_transf_7C
|
261 |
331 |
4.9e-8 |
PFAM |
|
RICIN
|
406 |
531 |
9.28e-27 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142547
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142578
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147911
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159796
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the glycosyltransferase 2 protein family. Members of this family initiate mucin-type O-glycoslation of peptides in the Golgi apparatus. The encoded protein may be involved in O-linked glycosylation of the immunoglobulin A1 hinge region. This gene may influence triglyceride levels, and may be involved Type 2 diabetes, as well as several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
|
| Allele List at MGI |
None
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp4b |
A |
G |
8: 13,438,810 (GRCm39) |
F189L |
probably damaging |
Het |
| Atp8a1 |
A |
T |
5: 67,922,221 (GRCm39) |
Y372N |
probably benign |
Het |
| Bves |
T |
C |
10: 45,245,389 (GRCm39) |
V354A |
probably benign |
Het |
| Cd79b |
A |
T |
11: 106,202,836 (GRCm39) |
Y195* |
probably null |
Het |
| Cog6 |
A |
C |
3: 52,920,362 (GRCm39) |
D131E |
probably benign |
Het |
| Elp3 |
C |
T |
14: 65,785,539 (GRCm39) |
E421K |
possibly damaging |
Het |
| Fbxw28 |
A |
T |
9: 109,157,378 (GRCm39) |
F237Y |
probably damaging |
Het |
| Fezf1 |
T |
C |
6: 23,247,709 (GRCm39) |
N122S |
probably benign |
Het |
| Git2 |
T |
C |
5: 114,871,970 (GRCm39) |
E141G |
possibly damaging |
Het |
| Gm26888 |
T |
C |
11: 119,044,853 (GRCm39) |
|
silent |
Het |
| Gnrhr |
T |
C |
5: 86,330,108 (GRCm39) |
|
probably null |
Het |
| Hoxd13 |
A |
T |
2: 74,500,359 (GRCm39) |
D300V |
probably damaging |
Het |
| Hspg2 |
G |
A |
4: 137,275,433 (GRCm39) |
A2748T |
probably benign |
Het |
| Hyal2 |
A |
G |
9: 107,448,052 (GRCm39) |
N235S |
probably damaging |
Het |
| Itgam |
T |
G |
7: 127,680,830 (GRCm39) |
L253R |
probably damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Matr3 |
A |
T |
18: 35,716,969 (GRCm39) |
K591N |
possibly damaging |
Het |
| Mep1a |
T |
A |
17: 43,785,897 (GRCm39) |
I731F |
possibly damaging |
Het |
| Mrtfa |
G |
A |
15: 80,905,124 (GRCm39) |
Q103* |
probably null |
Het |
| Muc5b |
A |
G |
7: 141,415,124 (GRCm39) |
D2690G |
possibly damaging |
Het |
| Nlrc5 |
A |
G |
8: 95,220,981 (GRCm39) |
Q1140R |
probably benign |
Het |
| Or14c39 |
A |
G |
7: 86,343,798 (GRCm39) |
I45V |
probably benign |
Het |
| Or5ac23 |
C |
T |
16: 59,148,961 (GRCm39) |
V304I |
probably benign |
Het |
| Or6b6 |
A |
G |
7: 106,571,209 (GRCm39) |
L114P |
probably damaging |
Het |
| Plcl1 |
T |
C |
1: 55,754,736 (GRCm39) |
F1028L |
probably damaging |
Het |
| Plpp2 |
A |
G |
10: 79,363,327 (GRCm39) |
V106A |
possibly damaging |
Het |
| Prpf8 |
A |
G |
11: 75,381,528 (GRCm39) |
T255A |
possibly damaging |
Het |
| Shoc2 |
A |
G |
19: 54,019,660 (GRCm39) |
I568V |
probably benign |
Het |
| Spopl |
C |
T |
2: 23,407,957 (GRCm39) |
V241M |
probably damaging |
Het |
| Ssrp1 |
A |
T |
2: 84,868,285 (GRCm39) |
D9V |
probably damaging |
Het |
| Strn3 |
A |
T |
12: 51,694,883 (GRCm39) |
D293E |
possibly damaging |
Het |
| Tbx3 |
G |
T |
5: 119,818,636 (GRCm39) |
D404Y |
probably damaging |
Het |
| Tdrd7 |
T |
C |
4: 46,005,540 (GRCm39) |
S416P |
possibly damaging |
Het |
| Trim60 |
G |
T |
8: 65,453,864 (GRCm39) |
Y128* |
probably null |
Het |
| Tspoap1 |
T |
C |
11: 87,666,429 (GRCm39) |
S947P |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,612,739 (GRCm39) |
S17113R |
probably damaging |
Het |
| Ubqln1 |
T |
A |
13: 58,341,202 (GRCm39) |
N183I |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,189,167 (GRCm39) |
N3917D |
possibly damaging |
Het |
| Ucp2 |
A |
G |
7: 100,148,557 (GRCm39) |
*310W |
probably null |
Het |
| Wdr76 |
A |
G |
2: 121,359,314 (GRCm39) |
M218V |
probably damaging |
Het |
| Zranb3 |
A |
C |
1: 127,884,392 (GRCm39) |
L998R |
possibly damaging |
Het |
| Zxdc |
G |
A |
6: 90,346,792 (GRCm39) |
G51E |
probably damaging |
Het |
|
| Other mutations in Galnt2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02187:Galnt2
|
APN |
8 |
125,032,245 (GRCm39) |
splice site |
probably benign |
|
|
IGL02638:Galnt2
|
APN |
8 |
124,958,318 (GRCm39) |
missense |
probably damaging |
0.98 |
|
chivalry
|
UTSW |
8 |
125,061,025 (GRCm39) |
nonsense |
probably null |
|
|
feudal
|
UTSW |
8 |
125,058,837 (GRCm39) |
critical splice donor site |
probably null |
|
|
gallantry
|
UTSW |
8 |
125,067,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
valor
|
UTSW |
8 |
125,056,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0018:Galnt2
|
UTSW |
8 |
125,063,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0133:Galnt2
|
UTSW |
8 |
125,065,277 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0453:Galnt2
|
UTSW |
8 |
125,065,323 (GRCm39) |
splice site |
probably benign |
|
|
R0709:Galnt2
|
UTSW |
8 |
125,070,085 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1015:Galnt2
|
UTSW |
8 |
125,063,356 (GRCm39) |
missense |
probably benign |
|
|
R4388:Galnt2
|
UTSW |
8 |
125,022,192 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4447:Galnt2
|
UTSW |
8 |
125,022,116 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4448:Galnt2
|
UTSW |
8 |
125,022,116 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4449:Galnt2
|
UTSW |
8 |
125,022,116 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4450:Galnt2
|
UTSW |
8 |
125,022,116 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4927:Galnt2
|
UTSW |
8 |
125,032,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5536:Galnt2
|
UTSW |
8 |
125,050,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6218:Galnt2
|
UTSW |
8 |
125,070,054 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6732:Galnt2
|
UTSW |
8 |
125,067,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6795:Galnt2
|
UTSW |
8 |
125,070,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6823:Galnt2
|
UTSW |
8 |
125,050,750 (GRCm39) |
missense |
probably benign |
|
|
R7173:Galnt2
|
UTSW |
8 |
125,032,292 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7479:Galnt2
|
UTSW |
8 |
125,061,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7818:Galnt2
|
UTSW |
8 |
125,056,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7821:Galnt2
|
UTSW |
8 |
125,070,134 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7831:Galnt2
|
UTSW |
8 |
125,058,817 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8348:Galnt2
|
UTSW |
8 |
125,061,025 (GRCm39) |
nonsense |
probably null |
|
|
R8770:Galnt2
|
UTSW |
8 |
125,061,025 (GRCm39) |
nonsense |
probably null |
|
|
R8826:Galnt2
|
UTSW |
8 |
125,032,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9054:Galnt2
|
UTSW |
8 |
125,058,837 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9269:Galnt2
|
UTSW |
8 |
125,065,202 (GRCm39) |
missense |
probably benign |
0.02 |
|
X0024:Galnt2
|
UTSW |
8 |
125,070,084 (GRCm39) |
missense |
probably benign |
0.28 |
|
Z1177:Galnt2
|
UTSW |
8 |
125,070,057 (GRCm39) |
missense |
probably benign |
0.24 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACCTAATACAGTCTGGAGTGGAG -3'
(R):5'- GAGGGTATTGCACTCACACAG -3'
Sequencing Primer
(F):5'- TCTGGAGTGGAGTAGGGACC -3'
(R):5'- GACTGCATCCCTGGAACTATGAG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation