Incidental Mutation 'R4448:Galnt2'
| ID |
328843 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Galnt2
|
| Ensembl Gene |
ENSMUSG00000089704 |
| Gene Name |
polypeptide N-acetylgalactosaminyltransferase 2 |
| Synonyms |
ppGaNTase-T2 |
| MMRRC Submission |
041709-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
R4448 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
124958133-125072461 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 125022116 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 14
(D14G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118564
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034458]
[ENSMUST00000127664]
|
| AlphaFold |
Q6PB93 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034458
AA Change: D48G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000034458
Gene: ENSMUSG00000089704
AA Change: D48G
| 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
AA Change: D14G
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329
AA Change: D14G
| 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 |
0.0842 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
94% (49/52) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3930402G23Rik |
T |
A |
8: 10,976,129 (GRCm39) |
|
noncoding transcript |
Het |
| A1cf |
A |
T |
19: 31,923,262 (GRCm39) |
T513S |
probably benign |
Het |
| Acaca |
A |
T |
11: 84,153,318 (GRCm39) |
I909F |
probably damaging |
Het |
| Adgb |
T |
C |
10: 10,266,569 (GRCm39) |
I980V |
probably benign |
Het |
| Akap13 |
T |
A |
7: 75,392,508 (GRCm39) |
F2450L |
probably damaging |
Het |
| Alg11 |
C |
A |
8: 22,558,095 (GRCm39) |
A469E |
probably benign |
Het |
| Asb8 |
A |
G |
15: 98,039,211 (GRCm39) |
V63A |
possibly damaging |
Het |
| Atp6v1b2 |
T |
A |
8: 69,554,674 (GRCm39) |
D126E |
probably benign |
Het |
| BC048562 |
T |
A |
9: 108,315,723 (GRCm39) |
L43Q |
probably damaging |
Het |
| Ctcf |
A |
T |
8: 106,406,925 (GRCm39) |
|
probably benign |
Het |
| Efs |
A |
G |
14: 55,157,649 (GRCm39) |
S128P |
probably damaging |
Het |
| Epg5 |
T |
A |
18: 78,005,676 (GRCm39) |
M722K |
probably damaging |
Het |
| Ezr |
T |
C |
17: 7,020,473 (GRCm39) |
I203V |
probably benign |
Het |
| F5 |
A |
T |
1: 164,026,468 (GRCm39) |
N1680I |
possibly damaging |
Het |
| Fcna |
A |
G |
2: 25,515,488 (GRCm39) |
F194L |
probably damaging |
Het |
| Fut7 |
A |
G |
2: 25,314,951 (GRCm39) |
T70A |
probably benign |
Het |
| Gpr4 |
G |
A |
7: 18,956,926 (GRCm39) |
A283T |
probably damaging |
Het |
| Herc2 |
T |
C |
7: 55,877,640 (GRCm39) |
L4569P |
probably damaging |
Het |
| Hhip |
C |
T |
8: 80,770,574 (GRCm39) |
|
probably null |
Het |
| Hoxc12 |
A |
G |
15: 102,846,911 (GRCm39) |
K268E |
probably damaging |
Het |
| Iqcm |
T |
C |
8: 76,356,394 (GRCm39) |
S176P |
probably damaging |
Het |
| Kansl1l |
A |
G |
1: 66,777,318 (GRCm39) |
S605P |
probably damaging |
Het |
| Kcnh4 |
A |
G |
11: 100,646,733 (GRCm39) |
F198L |
probably benign |
Het |
| Kmt2e |
T |
C |
5: 23,669,788 (GRCm39) |
F92L |
possibly damaging |
Het |
| Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,425,938 (GRCm39) |
I2396V |
possibly damaging |
Het |
| Nckap5 |
G |
A |
1: 125,953,463 (GRCm39) |
Q1030* |
probably null |
Het |
| Pag1 |
T |
C |
3: 9,764,526 (GRCm39) |
E209G |
probably benign |
Het |
| Pramel30 |
A |
C |
4: 144,059,255 (GRCm39) |
H322P |
probably damaging |
Het |
| Pttg1 |
A |
T |
11: 43,315,517 (GRCm39) |
|
probably benign |
Het |
| Rab38 |
T |
G |
7: 88,139,833 (GRCm39) |
D167E |
probably benign |
Het |
| Rbm26 |
A |
T |
14: 105,388,986 (GRCm39) |
F302I |
probably damaging |
Het |
| Rpap2 |
G |
A |
5: 107,749,661 (GRCm39) |
V62I |
possibly damaging |
Het |
| Sec23b |
A |
G |
2: 144,401,171 (GRCm39) |
N11D |
probably benign |
Het |
| Sipa1l1 |
G |
A |
12: 82,388,524 (GRCm39) |
G250D |
probably benign |
Het |
| Sipa1l2 |
A |
T |
8: 126,219,094 (GRCm39) |
V81D |
probably damaging |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Sqstm1 |
A |
G |
11: 50,093,866 (GRCm39) |
|
probably benign |
Het |
| Taf4 |
A |
G |
2: 179,577,764 (GRCm39) |
L519P |
possibly damaging |
Het |
| Tdrd6 |
C |
T |
17: 43,940,626 (GRCm39) |
G141S |
probably benign |
Het |
| Urb1 |
C |
T |
16: 90,566,282 (GRCm39) |
V1502I |
possibly damaging |
Het |
| Vmn1r222 |
A |
C |
13: 23,416,463 (GRCm39) |
V250G |
probably benign |
Het |
| Vmn1r222 |
G |
A |
13: 23,416,830 (GRCm39) |
L128F |
probably damaging |
Het |
| Wwc2 |
A |
G |
8: 48,321,702 (GRCm39) |
Y471H |
unknown |
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 |
|
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'- AGCGTAGTCTAGACGTCTCTGG -3'
(R):5'- GCAGTGTCCAGAAGCATAAGTC -3'
Sequencing Primer
(F):5'- CTAGACGTCTCTGGGTGATTATGAG -3'
(R):5'- GTGTCCAGAAGCATAAGTCATTCTC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation