Incidental Mutation 'IGL01814:B3galnt2'
| ID |
154338 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
B3galnt2
|
| Ensembl Gene |
ENSMUSG00000039242 |
| Gene Name |
UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 2 |
| Synonyms |
D230016N13Rik, A930105D20Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01814
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
14129059-14173688 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 14161938 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 1
(S1G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152239
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099747]
[ENSMUST00000220681]
[ENSMUST00000221300]
[ENSMUST00000221974]
[ENSMUST00000222110]
[ENSMUST00000223483]
|
| AlphaFold |
Q8BG28 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099747
AA Change: S220G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000097336
Gene: ENSMUSG00000039242
AA Change: S220G
| 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 damaging
Transcript: ENSMUST00000220681
AA Change: S1G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221300
AA Change: S220G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000221333
AA Change: S138G
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221974
AA Change: S220G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222110
AA Change: E122G
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223483
|
| Coding Region Coverage |
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg3l2 |
T |
A |
18: 67,538,544 (GRCm39) |
N738I |
probably benign |
Het |
| Btbd9 |
T |
C |
17: 30,518,509 (GRCm39) |
I484V |
probably benign |
Het |
| Chd6 |
T |
C |
2: 160,901,849 (GRCm39) |
K8R |
probably benign |
Het |
| Csmd1 |
A |
C |
8: 16,551,389 (GRCm39) |
L279R |
probably damaging |
Het |
| Dmxl1 |
G |
T |
18: 49,997,935 (GRCm39) |
V708F |
probably damaging |
Het |
| Dnajc24 |
C |
T |
2: 105,811,429 (GRCm39) |
G49R |
probably benign |
Het |
| Dnhd1 |
T |
C |
7: 105,301,237 (GRCm39) |
M198T |
probably benign |
Het |
| Dtx3l |
T |
A |
16: 35,751,872 (GRCm39) |
D683V |
probably benign |
Het |
| Duox1 |
A |
G |
2: 122,176,753 (GRCm39) |
T1425A |
probably damaging |
Het |
| Enpp3 |
G |
A |
10: 24,667,923 (GRCm39) |
P510S |
possibly damaging |
Het |
| Iars2 |
G |
T |
1: 185,034,972 (GRCm39) |
Y590* |
probably null |
Het |
| Itgb7 |
T |
C |
15: 102,131,852 (GRCm39) |
R244G |
possibly damaging |
Het |
| Itpr2 |
T |
A |
6: 146,134,044 (GRCm39) |
R1820S |
probably benign |
Het |
| Matn3 |
T |
C |
12: 9,002,091 (GRCm39) |
V101A |
probably damaging |
Het |
| Neurod1 |
C |
T |
2: 79,285,003 (GRCm39) |
V127M |
probably damaging |
Het |
| Or56a5 |
T |
C |
7: 104,792,811 (GRCm39) |
I236V |
possibly damaging |
Het |
| Or9i1b |
T |
A |
19: 13,896,892 (GRCm39) |
C169* |
probably null |
Het |
| Pde10a |
A |
G |
17: 9,147,939 (GRCm39) |
M1V |
probably null |
Het |
| Pdk4 |
A |
G |
6: 5,491,828 (GRCm39) |
|
probably null |
Het |
| Ptchd4 |
A |
T |
17: 42,814,177 (GRCm39) |
I693F |
possibly damaging |
Het |
| Scml4 |
C |
T |
10: 42,811,041 (GRCm39) |
R194C |
probably damaging |
Het |
| Slc24a4 |
T |
C |
12: 102,220,877 (GRCm39) |
V436A |
probably benign |
Het |
| Slc9a3 |
C |
A |
13: 74,314,091 (GRCm39) |
R800S |
probably damaging |
Het |
| Smchd1 |
C |
A |
17: 71,685,182 (GRCm39) |
M1415I |
probably benign |
Het |
| Syndig1 |
T |
A |
2: 149,741,690 (GRCm39) |
I92N |
probably damaging |
Het |
| Tchhl1 |
T |
C |
3: 93,377,656 (GRCm39) |
V120A |
possibly damaging |
Het |
| Thumpd3 |
C |
T |
6: 113,040,112 (GRCm39) |
T332I |
possibly damaging |
Het |
| Tmem101 |
G |
A |
11: 102,044,284 (GRCm39) |
T201M |
possibly damaging |
Het |
| Trip11 |
T |
C |
12: 101,850,747 (GRCm39) |
T1106A |
probably damaging |
Het |
| Ttc41 |
C |
T |
10: 86,566,890 (GRCm39) |
R519C |
probably damaging |
Het |
| Xirp1 |
T |
A |
9: 119,846,985 (GRCm39) |
M633L |
probably damaging |
Het |
| Zfp938 |
A |
T |
10: 82,062,052 (GRCm39) |
D189E |
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 |
|
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 |
|
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 |
|
| Posted On |
2014-02-04 |
Incidental Mutation