Incidental Mutation 'R5628:B3galnt2'
| ID |
441945 |
| 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 |
043167-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5628 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
14129059-14173688 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 14169737 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039894]
[ENSMUST00000099747]
[ENSMUST00000159893]
[ENSMUST00000162326]
[ENSMUST00000220681]
[ENSMUST00000221300]
[ENSMUST00000221974]
[ENSMUST00000222110]
[ENSMUST00000223483]
|
| 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 damaging
Transcript: ENSMUST00000099747
AA Change: K398N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097336
Gene: ENSMUSG00000039242
AA Change: K398N
| 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 damaging
Transcript: ENSMUST00000220681
AA Change: K179N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000221300
AA Change: K398N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000221974
AA Change: K398N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220932
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222110
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223483
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000222420
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000222420
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221333
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| 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 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam25 |
A |
G |
8: 41,208,747 (GRCm39) |
D671G |
probably benign |
Het |
| Ap3b1 |
A |
G |
13: 94,613,556 (GRCm39) |
D685G |
unknown |
Het |
| Atp6v1h |
G |
A |
1: 5,206,112 (GRCm39) |
W358* |
probably null |
Het |
| Atr |
T |
A |
9: 95,756,279 (GRCm39) |
Y830* |
probably null |
Het |
| Casz1 |
T |
C |
4: 149,030,553 (GRCm39) |
Y1191H |
probably damaging |
Het |
| Cdc40 |
T |
G |
10: 40,727,049 (GRCm39) |
E169D |
probably benign |
Het |
| Cep55 |
C |
T |
19: 38,058,396 (GRCm39) |
Q330* |
probably null |
Het |
| Clcn1 |
T |
C |
6: 42,275,823 (GRCm39) |
V315A |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,226,218 (GRCm39) |
F2957L |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Dync1li2 |
T |
C |
8: 105,147,224 (GRCm39) |
N490S |
possibly damaging |
Het |
| Ephb3 |
T |
C |
16: 21,036,869 (GRCm39) |
Y111H |
probably damaging |
Het |
| Fam186a |
A |
C |
15: 99,839,628 (GRCm39) |
H2205Q |
possibly damaging |
Het |
| Fat3 |
T |
C |
9: 15,877,392 (GRCm39) |
Y3407C |
probably damaging |
Het |
| Fbxw8 |
A |
G |
5: 118,230,622 (GRCm39) |
V393A |
probably damaging |
Het |
| Fnip1 |
A |
T |
11: 54,394,459 (GRCm39) |
D965V |
probably benign |
Het |
| Gramd2a |
T |
C |
9: 59,615,006 (GRCm39) |
M3T |
probably benign |
Het |
| Kctd15 |
T |
C |
7: 34,339,720 (GRCm39) |
D283G |
probably damaging |
Het |
| Kif9 |
C |
T |
9: 110,343,621 (GRCm39) |
R547* |
probably null |
Het |
| Map4 |
A |
G |
9: 109,910,915 (GRCm39) |
T245A |
probably benign |
Het |
| Mindy4 |
C |
T |
6: 55,237,579 (GRCm39) |
L385F |
probably damaging |
Het |
| Myo7b |
A |
G |
18: 32,107,240 (GRCm39) |
C1252R |
probably benign |
Het |
| Myt1l |
T |
A |
12: 29,861,620 (GRCm39) |
I134N |
unknown |
Het |
| Or5m10b |
T |
A |
2: 85,699,149 (GRCm39) |
I71N |
probably damaging |
Het |
| Osgin2 |
T |
A |
4: 15,998,998 (GRCm39) |
N208I |
probably benign |
Het |
| Polr2b |
G |
A |
5: 77,461,063 (GRCm39) |
V29M |
probably damaging |
Het |
| Prdm15 |
T |
A |
16: 97,600,823 (GRCm39) |
M812L |
probably damaging |
Het |
| Prr36 |
TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC |
TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC |
8: 4,266,273 (GRCm39) |
|
probably benign |
Het |
| Rev3l |
T |
A |
10: 39,698,963 (GRCm39) |
N1153K |
probably damaging |
Het |
| Rnf17 |
A |
G |
14: 56,724,409 (GRCm39) |
|
probably null |
Het |
| Rusc2 |
C |
T |
4: 43,425,348 (GRCm39) |
T1151M |
probably damaging |
Het |
| Scrib |
T |
C |
15: 75,921,389 (GRCm39) |
T30A |
possibly damaging |
Het |
| Sephs1 |
T |
C |
2: 4,894,018 (GRCm39) |
I73T |
probably benign |
Het |
| Sf3b1 |
C |
T |
1: 55,037,334 (GRCm39) |
A861T |
probably benign |
Het |
| Shq1 |
A |
G |
6: 100,607,964 (GRCm39) |
W316R |
probably damaging |
Het |
| Slc26a5 |
T |
A |
5: 22,021,974 (GRCm39) |
D484V |
probably benign |
Het |
| Smg1 |
C |
T |
7: 117,753,924 (GRCm39) |
|
probably benign |
Het |
| Stard5 |
T |
C |
7: 83,282,355 (GRCm39) |
I56T |
probably benign |
Het |
| Szt2 |
A |
G |
4: 118,230,414 (GRCm39) |
V2653A |
unknown |
Het |
| Tmem217 |
A |
T |
17: 29,745,430 (GRCm39) |
I100N |
probably damaging |
Het |
| Trpm2 |
C |
T |
10: 77,748,470 (GRCm39) |
R1400Q |
probably benign |
Het |
| Vmn1r82 |
T |
G |
7: 12,039,205 (GRCm39) |
N41K |
probably damaging |
Het |
| Zfp236 |
T |
C |
18: 82,675,247 (GRCm39) |
D367G |
probably damaging |
Het |
| Zfyve1 |
A |
T |
12: 83,621,663 (GRCm39) |
V244E |
probably benign |
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 |
|
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 |
|
R6529:B3galnt2
|
UTSW |
13 |
14,170,377 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- ACACAGGGTGGGCTTCTCTTAG -3'
(R):5'- TCAGGGACATCTCAGGACAC -3'
Sequencing Primer
(F):5'- CCATTCAGAAACTGAGAGCTTATC -3'
(R):5'- CATCTCAGGACACTGGACTGTATG -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation