Incidental Mutation 'R4388:Galnt2'
ID |
326309 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Galnt2
|
Ensembl Gene |
ENSMUSG00000089704 |
Gene Name |
polypeptide N-acetylgalactosaminyltransferase 2 |
Synonyms |
ppGaNTase-T2 |
MMRRC Submission |
041125-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.113)
|
Stock # |
R4388 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
124958133-125072461 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 125022192 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118564
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034458]
[ENSMUST00000127664]
[ENSMUST00000127664]
|
AlphaFold |
Q6PB93 |
Predicted Effect |
probably null
Transcript: ENSMUST00000034458
|
SMART Domains |
Protein: ENSMUSP00000034458 Gene: ENSMUSG00000089704
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 null
Transcript: ENSMUST00000127664
|
SMART Domains |
Protein: ENSMUSP00000118564 Gene: ENSMUSG00000092329
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 |
probably null
Transcript: ENSMUST00000127664
|
SMART Domains |
Protein: ENSMUSP00000118564 Gene: ENSMUSG00000092329
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
|
Meta Mutation Damage Score |
0.9500 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
Validation Efficiency |
86% (31/36) |
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
T |
A |
13: 77,464,693 (GRCm39) |
|
probably null |
Het |
Adgrv1 |
T |
C |
13: 81,729,828 (GRCm39) |
T218A |
probably damaging |
Het |
Aldh1l2 |
T |
C |
10: 83,349,486 (GRCm39) |
D254G |
probably damaging |
Het |
Arpc4 |
A |
G |
6: 113,362,458 (GRCm39) |
D36G |
probably damaging |
Het |
Cd209b |
A |
G |
8: 3,975,960 (GRCm39) |
L67P |
probably damaging |
Het |
Cldn20 |
G |
A |
17: 3,583,485 (GRCm39) |
M219I |
probably benign |
Het |
Dmxl2 |
G |
A |
9: 54,303,551 (GRCm39) |
P2308S |
probably damaging |
Het |
Fancd2 |
A |
G |
6: 113,533,329 (GRCm39) |
I549V |
probably damaging |
Het |
Galnt9 |
A |
G |
5: 110,736,257 (GRCm39) |
D191G |
probably damaging |
Het |
Hgf |
T |
A |
5: 16,819,941 (GRCm39) |
H557Q |
probably benign |
Het |
Ifna12 |
T |
C |
4: 88,521,346 (GRCm39) |
D67G |
probably benign |
Het |
Igf1r |
A |
G |
7: 67,819,757 (GRCm39) |
I356V |
probably benign |
Het |
Itih1 |
A |
G |
14: 30,663,512 (GRCm39) |
V164A |
possibly damaging |
Het |
Kcnc1 |
C |
A |
7: 46,047,126 (GRCm39) |
R9S |
possibly damaging |
Het |
Kmt2b |
A |
C |
7: 30,288,015 (GRCm39) |
|
probably benign |
Het |
Kmt2d |
C |
T |
15: 98,751,507 (GRCm39) |
|
probably benign |
Het |
Kng1 |
T |
A |
16: 22,898,068 (GRCm39) |
H489Q |
possibly damaging |
Het |
Larp7-ps |
A |
T |
4: 92,079,351 (GRCm39) |
S157T |
probably benign |
Het |
Map4k5 |
C |
A |
12: 69,892,583 (GRCm39) |
M115I |
probably damaging |
Het |
Muc4 |
T |
C |
16: 32,753,802 (GRCm38) |
I1226T |
probably benign |
Het |
Naca |
T |
C |
10: 127,880,661 (GRCm39) |
S1898P |
probably damaging |
Het |
Nlrp4e |
A |
G |
7: 23,000,902 (GRCm39) |
K66E |
probably benign |
Het |
Nlrp4e |
A |
G |
7: 23,020,652 (GRCm39) |
I380V |
probably benign |
Het |
Pex26 |
A |
G |
6: 121,161,351 (GRCm39) |
D43G |
probably damaging |
Het |
Prr14l |
A |
G |
5: 32,986,598 (GRCm39) |
S966P |
probably damaging |
Het |
Recql4 |
A |
G |
15: 76,590,158 (GRCm39) |
S659P |
probably benign |
Het |
Serpina3n |
C |
A |
12: 104,377,616 (GRCm39) |
Q290K |
probably benign |
Het |
Sft2d1 |
A |
G |
17: 8,539,469 (GRCm39) |
K91E |
possibly damaging |
Het |
Slc25a16 |
T |
C |
10: 62,764,105 (GRCm39) |
V54A |
probably benign |
Het |
Svep1 |
A |
G |
4: 58,069,249 (GRCm39) |
Y2846H |
possibly damaging |
Het |
Ttll2 |
T |
A |
17: 7,618,599 (GRCm39) |
R443* |
probably null |
Het |
Uty |
A |
G |
Y: 1,151,956 (GRCm39) |
S795P |
possibly damaging |
Het |
Xrcc5 |
T |
A |
1: 72,369,189 (GRCm39) |
S348T |
possibly 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 |
|
R4400:Galnt2
|
UTSW |
8 |
125,051,042 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- TGATGGTATCACAGAACCACTC -3'
(R):5'- GACCTGTAAGCTCAGACCTTG -3'
Sequencing Primer
(F):5'- TCTGAAGCAGAGAAGCTGTG -3'
(R):5'- GTAAGCTCAGACCTTGTCATTTATC -3'
|
Posted On |
2015-07-06 |