Incidental Mutation 'R9054:Galnt2'
| ID |
688571 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Galnt2
|
| Ensembl Gene |
ENSMUSG00000089704 |
| Gene Name |
polypeptide N-acetylgalactosaminyltransferase 2 |
| Synonyms |
ppGaNTase-T2 |
| MMRRC Submission |
068880-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
R9054 (G1)
|
| Quality Score |
225.009 |
|
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 125058837 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034458
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034458]
[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 benign
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 |
|
| Meta Mutation Damage Score |
0.9505 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (51/52) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankef1 |
T |
A |
2: 136,395,594 (GRCm39) |
D641E |
probably benign |
Het |
| Anln |
A |
G |
9: 22,272,116 (GRCm39) |
|
probably null |
Het |
| Areg |
A |
T |
5: 91,292,217 (GRCm39) |
E172D |
probably damaging |
Het |
| Ccdc51 |
A |
T |
9: 108,918,482 (GRCm39) |
T24S |
probably benign |
Het |
| Cckar |
A |
T |
5: 53,860,424 (GRCm39) |
I135N |
probably damaging |
Het |
| Cdca7 |
CGAGGAAGAGGAGGAGGAAGAGGAGGAGGAAGAGGA |
CGAGGAAGAGGAGGAGGAAGAGGA |
2: 72,313,821 (GRCm39) |
|
probably benign |
Het |
| Cep295 |
T |
C |
9: 15,235,551 (GRCm39) |
H2056R |
possibly damaging |
Het |
| Chrnb2 |
T |
C |
3: 89,664,562 (GRCm39) |
K451E |
probably damaging |
Het |
| Ctnna2 |
C |
T |
6: 76,919,249 (GRCm39) |
R663Q |
probably benign |
Het |
| Cyp4f37 |
A |
T |
17: 32,853,253 (GRCm39) |
I406F |
probably benign |
Het |
| Eml4 |
T |
A |
17: 83,734,640 (GRCm39) |
|
probably benign |
Het |
| Fkrp |
G |
T |
7: 16,544,569 (GRCm39) |
T431K |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,806,180 (GRCm39) |
Y833F |
possibly damaging |
Het |
| Gm8180 |
T |
A |
14: 44,019,806 (GRCm39) |
|
probably null |
Het |
| Hcn1 |
T |
C |
13: 118,108,171 (GRCm39) |
S552P |
unknown |
Het |
| Ifit1 |
A |
C |
19: 34,625,887 (GRCm39) |
E341A |
possibly damaging |
Het |
| Iyd |
A |
G |
10: 3,490,250 (GRCm39) |
|
probably benign |
Het |
| Krt72 |
A |
T |
15: 101,694,836 (GRCm39) |
S20T |
probably damaging |
Het |
| Lemd2 |
G |
T |
17: 27,423,069 (GRCm39) |
D108E |
probably benign |
Het |
| Lipn |
A |
T |
19: 34,054,376 (GRCm39) |
I205F |
possibly damaging |
Het |
| Nat1 |
G |
T |
8: 67,943,723 (GRCm39) |
R36L |
probably benign |
Het |
| Nebl |
A |
T |
2: 17,415,907 (GRCm39) |
M334K |
possibly damaging |
Het |
| Nectin4 |
A |
T |
1: 171,214,351 (GRCm39) |
N502I |
probably damaging |
Het |
| Nrp1 |
G |
A |
8: 129,214,389 (GRCm39) |
V626I |
probably benign |
Het |
| Oprm1 |
G |
A |
10: 6,773,914 (GRCm39) |
|
probably benign |
Het |
| Or52w1 |
A |
G |
7: 105,017,680 (GRCm39) |
Y49C |
probably damaging |
Het |
| Or8a1b |
C |
T |
9: 37,623,204 (GRCm39) |
V124M |
probably damaging |
Het |
| Pde2a |
A |
G |
7: 101,156,927 (GRCm39) |
Y637C |
probably damaging |
Het |
| Pde4d |
T |
C |
13: 110,071,924 (GRCm39) |
V306A |
probably damaging |
Het |
| Pdzd9 |
G |
A |
7: 120,269,498 (GRCm39) |
|
probably benign |
Het |
| Pitpnm3 |
T |
A |
11: 71,947,017 (GRCm39) |
D810V |
probably damaging |
Het |
| Pkd1l3 |
A |
T |
8: 110,392,304 (GRCm39) |
H1966L |
probably benign |
Het |
| Pmfbp1 |
C |
T |
8: 110,247,661 (GRCm39) |
T319I |
possibly damaging |
Het |
| Pramel28 |
T |
C |
4: 143,692,314 (GRCm39) |
Q229R |
probably benign |
Het |
| Prb1c |
G |
C |
6: 132,338,856 (GRCm39) |
Q121E |
unknown |
Het |
| Psg18 |
T |
A |
7: 18,087,450 (GRCm39) |
R69S |
possibly damaging |
Het |
| Ptprg |
A |
T |
14: 12,213,638 (GRCm38) |
Q1002L |
possibly damaging |
Het |
| Ptprj |
T |
C |
2: 90,290,984 (GRCm39) |
Y585C |
probably damaging |
Het |
| Rad51c |
T |
C |
11: 87,293,542 (GRCm39) |
T105A |
probably benign |
Het |
| Rbm12 |
A |
T |
2: 155,937,481 (GRCm39) |
D930E |
unknown |
Het |
| Rlf |
A |
C |
4: 121,007,784 (GRCm39) |
S509A |
possibly damaging |
Het |
| Slc39a3 |
C |
A |
10: 80,869,499 (GRCm39) |
G53C |
probably damaging |
Het |
| Smchd1 |
G |
A |
17: 71,670,017 (GRCm39) |
Q1685* |
probably null |
Het |
| Sprr2d |
A |
C |
3: 92,247,715 (GRCm39) |
E52A |
unknown |
Het |
| Stat1 |
A |
G |
1: 52,182,086 (GRCm39) |
N355S |
probably damaging |
Het |
| Tmem30b |
T |
C |
12: 73,592,923 (GRCm39) |
E64G |
probably benign |
Het |
| Ttll11 |
A |
T |
2: 35,869,392 (GRCm39) |
V82D |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,570,977 (GRCm39) |
T26639S |
probably damaging |
Het |
| Usp53 |
A |
T |
3: 122,727,725 (GRCm39) |
N952K |
probably benign |
Het |
| Vmn1r199 |
T |
A |
13: 22,567,724 (GRCm39) |
H339Q |
possibly damaging |
Het |
| Vps13b |
G |
A |
15: 35,422,537 (GRCm39) |
D166N |
probably damaging |
Het |
| Zfp954 |
C |
A |
7: 7,119,097 (GRCm39) |
C149F |
probably benign |
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 |
|
|
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 |
|
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'- GTTGGCAGTGAGTTCCATCCAC -3'
(R):5'- ATGCCTTGGGAGCTAGTGAC -3'
Sequencing Primer
(F):5'- ATGAGCTCATTGTCAACTACTCGGG -3'
(R):5'- CTGAGGAAAAGGACCTAAGTTCCTTC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation