Incidental Mutation 'R6529:B3galnt2'
| ID |
522219 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
B3galnt2
|
| Ensembl Gene |
ENSMUSG00000039242 |
| Gene Name |
UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 2 |
| Synonyms |
D230016N13Rik, A930105D20Rik |
| MMRRC Submission |
044655-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6529 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
14129059-14173688 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 14170377 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 242
(R242S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152239
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039894]
[ENSMUST00000099747]
[ENSMUST00000159893]
[ENSMUST00000162326]
[ENSMUST00000220681]
[ENSMUST00000221974]
[ENSMUST00000221300]
[ENSMUST00000223483]
[ENSMUST00000222110]
|
| AlphaFold |
Q8BG28 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039894
|
| SMART Domains |
Protein: ENSMUSP00000047880
Gene: ENSMUSG00000039233
| Domain | Start | End | E-Value | Type |
|---|
|
CAP_GLY
|
10 |
76 |
5.23e-32 |
SMART |
|
SCOP:d1fqva2
|
117 |
345 |
4e-20 |
SMART |
|
low complexity region
|
347 |
360 |
N/A |
INTRINSIC |
|
Pfam:Ubiquitin_2
|
442 |
523 |
1.1e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099747
|
| SMART Domains |
Protein: ENSMUSP00000097336
Gene: ENSMUSG00000039242
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Pfam:Galactosyl_T
|
300 |
460 |
2.9e-26 |
PFAM |
|
low complexity region
|
481 |
492 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159893
|
| SMART Domains |
Protein: ENSMUSP00000125244
Gene: ENSMUSG00000039233
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1lpla_
|
9 |
35 |
3e-5 |
SMART |
|
Blast:CAP_GLY
|
10 |
34 |
2e-10 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160510
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160553
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162326
|
| SMART Domains |
Protein: ENSMUSP00000125613
Gene: ENSMUSG00000039233
| Domain | Start | End | E-Value | Type |
|---|
|
CAP_GLY
|
10 |
76 |
5.23e-32 |
SMART |
|
SCOP:d1fqva2
|
117 |
345 |
4e-21 |
SMART |
|
low complexity region
|
347 |
360 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220681
AA Change: R242S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221974
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221333
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220932
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222420
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221300
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223483
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222110
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.6%
|
| Validation Efficiency |
98% (41/42) |
| 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 31 family. The encoded protein synthesizes GalNAc:beta-1,3GlcNAc, a novel carbohydrate structure, on N- and O-glycans. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Mar 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
A |
T |
7: 78,739,479 (GRCm39) |
M296L |
probably benign |
Het |
| Atxn2 |
T |
C |
5: 121,949,677 (GRCm39) |
|
probably null |
Het |
| Bltp3a |
A |
G |
17: 28,098,750 (GRCm39) |
I218M |
possibly damaging |
Het |
| Casz1 |
G |
A |
4: 149,022,646 (GRCm39) |
E571K |
probably damaging |
Het |
| Ccdc163 |
A |
G |
4: 116,566,121 (GRCm39) |
|
probably null |
Het |
| Cd109 |
A |
G |
9: 78,619,907 (GRCm39) |
D1383G |
probably damaging |
Het |
| Cd200r1 |
A |
G |
16: 44,610,065 (GRCm39) |
T95A |
possibly damaging |
Het |
| Chd2 |
T |
C |
7: 73,153,191 (GRCm39) |
E219G |
possibly damaging |
Het |
| Cibar1 |
A |
G |
4: 12,168,978 (GRCm39) |
V175A |
probably damaging |
Het |
| Dnah14 |
T |
A |
1: 181,494,034 (GRCm39) |
V1730D |
probably damaging |
Het |
| Eps8 |
G |
A |
6: 137,491,335 (GRCm39) |
H348Y |
possibly damaging |
Het |
| Fbxo2 |
A |
T |
4: 148,249,511 (GRCm39) |
D187V |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,812,657 (GRCm39) |
Y2992F |
probably benign |
Het |
| Gle1 |
A |
T |
2: 29,825,539 (GRCm39) |
T10S |
possibly damaging |
Het |
| Got2 |
T |
C |
8: 96,615,013 (GRCm39) |
|
probably benign |
Het |
| Gtf3c6 |
T |
C |
10: 40,127,251 (GRCm39) |
T34A |
probably benign |
Het |
| H4c11 |
G |
T |
13: 21,919,476 (GRCm39) |
V71F |
possibly damaging |
Het |
| Klf15 |
C |
T |
6: 90,444,394 (GRCm39) |
T323I |
probably damaging |
Het |
| Krtap5-3 |
C |
A |
7: 141,756,079 (GRCm39) |
C305* |
probably null |
Het |
| Map2k6 |
A |
T |
11: 110,383,388 (GRCm39) |
D99V |
probably damaging |
Het |
| Nckap5l |
G |
T |
15: 99,324,475 (GRCm39) |
P676Q |
probably benign |
Het |
| Nup188 |
A |
T |
2: 30,216,466 (GRCm39) |
T757S |
possibly damaging |
Het |
| Or10ak13 |
C |
T |
4: 118,638,907 (GRCm39) |
V292I |
probably benign |
Het |
| Or51q1c |
T |
C |
7: 103,653,133 (GRCm39) |
V217A |
probably benign |
Het |
| Peg3 |
C |
A |
7: 6,711,071 (GRCm39) |
A1384S |
probably damaging |
Het |
| Plekho2 |
C |
T |
9: 65,480,383 (GRCm39) |
R14H |
probably benign |
Het |
| Qsox2 |
A |
T |
2: 26,107,753 (GRCm39) |
C247S |
probably damaging |
Het |
| Slc25a13 |
A |
G |
6: 6,073,451 (GRCm39) |
V469A |
probably benign |
Het |
| Slitrk3 |
T |
C |
3: 72,958,551 (GRCm39) |
T74A |
probably benign |
Het |
| Spmip7 |
T |
C |
11: 11,465,009 (GRCm39) |
F120S |
possibly damaging |
Het |
| Sult1a1 |
T |
C |
7: 126,274,310 (GRCm39) |
T91A |
probably benign |
Het |
| Sult3a2 |
T |
C |
10: 33,655,733 (GRCm39) |
Y82C |
probably damaging |
Het |
| Taf1b |
A |
T |
12: 24,606,650 (GRCm39) |
H490L |
possibly damaging |
Het |
| Trrap |
T |
A |
5: 144,771,014 (GRCm39) |
H2804Q |
probably benign |
Het |
| Usp8 |
A |
G |
2: 126,567,298 (GRCm39) |
I106V |
probably benign |
Het |
| Wdcp |
T |
A |
12: 4,901,143 (GRCm39) |
V333D |
probably damaging |
Het |
| Wdr46 |
T |
A |
17: 34,168,120 (GRCm39) |
L564Q |
possibly damaging |
Het |
| Wrn |
T |
C |
8: 33,826,004 (GRCm39) |
|
probably null |
Het |
| Zfp664 |
C |
T |
5: 124,963,352 (GRCm39) |
H249Y |
probably damaging |
Het |
| Zfp975 |
A |
C |
7: 42,311,325 (GRCm39) |
H429Q |
possibly damaging |
Het |
|
| Other mutations in B3galnt2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00227:B3galnt2
|
APN |
13 |
14,162,016 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL01149:B3galnt2
|
APN |
13 |
14,155,270 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01814:B3galnt2
|
APN |
13 |
14,161,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02383:B3galnt2
|
APN |
13 |
14,171,618 (GRCm39) |
makesense |
probably null |
|
|
R0106:B3galnt2
|
UTSW |
13 |
14,170,378 (GRCm39) |
missense |
probably benign |
|
|
R0349:B3galnt2
|
UTSW |
13 |
14,166,059 (GRCm39) |
missense |
probably benign |
|
|
R0676:B3galnt2
|
UTSW |
13 |
14,170,378 (GRCm39) |
missense |
probably benign |
|
|
R1522:B3galnt2
|
UTSW |
13 |
14,145,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1830:B3galnt2
|
UTSW |
13 |
14,166,119 (GRCm39) |
nonsense |
probably null |
|
|
R2035:B3galnt2
|
UTSW |
13 |
14,140,909 (GRCm39) |
missense |
probably benign |
0.10 |
|
R3686:B3galnt2
|
UTSW |
13 |
14,150,220 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3954:B3galnt2
|
UTSW |
13 |
14,141,039 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5369:B3galnt2
|
UTSW |
13 |
14,169,010 (GRCm39) |
splice site |
probably null |
|
|
R5435:B3galnt2
|
UTSW |
13 |
14,171,575 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5564:B3galnt2
|
UTSW |
13 |
14,169,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5628:B3galnt2
|
UTSW |
13 |
14,169,737 (GRCm39) |
splice site |
probably null |
|
|
R6118:B3galnt2
|
UTSW |
13 |
14,166,094 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6396:B3galnt2
|
UTSW |
13 |
14,170,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6656:B3galnt2
|
UTSW |
13 |
14,150,161 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7345:B3galnt2
|
UTSW |
13 |
14,155,065 (GRCm39) |
splice site |
probably null |
|
|
R7439:B3galnt2
|
UTSW |
13 |
14,169,070 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7441:B3galnt2
|
UTSW |
13 |
14,169,070 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7582:B3galnt2
|
UTSW |
13 |
14,165,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7849:B3galnt2
|
UTSW |
13 |
14,169,077 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8135:B3galnt2
|
UTSW |
13 |
14,145,454 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9216:B3galnt2
|
UTSW |
13 |
14,165,423 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9229:B3galnt2
|
UTSW |
13 |
14,166,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9350:B3galnt2
|
UTSW |
13 |
14,170,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9422:B3galnt2
|
UTSW |
13 |
14,150,136 (GRCm39) |
missense |
probably benign |
0.36 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCCAGTGTGTTGATGTAAGG -3'
(R):5'- TCCTGCCTCCACACCACTAG -3'
Sequencing Primer
(F):5'- TGAGGAAAGGGCTTGATTGC -3'
(R):5'- CAGAAGCCTTTTATCCCC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation