Incidental Mutation 'IGL03272:B4galnt3'
ID |
415309 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
B4galnt3
|
Ensembl Gene |
ENSMUSG00000041372 |
Gene Name |
beta-1,4-N-acetyl-galactosaminyl transferase 3 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
IGL03272
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
120180034-120271520 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 120193267 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 413
(D413G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148759
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057283]
[ENSMUST00000212457]
|
AlphaFold |
Q6L8S8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000057283
AA Change: D413G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000058253 Gene: ENSMUSG00000041372 AA Change: D413G
Domain | Start | End | E-Value | Type |
transmembrane domain
|
25 |
47 |
N/A |
INTRINSIC |
PA14
|
129 |
276 |
1.16e-21 |
SMART |
low complexity region
|
591 |
612 |
N/A |
INTRINSIC |
Pfam:CHGN
|
650 |
985 |
3.9e-29 |
PFAM |
Pfam:Glyco_transf_7C
|
896 |
974 |
3.3e-14 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125341
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000212457
AA Change: D413G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] B4GALNT3 transfers N-acetylgalactosamine (GalNAc) onto glucosyl residues to form N,N-prime-diacetyllactosediamine (LacdiNAc, or LDN), a unique terminal structure of cell surface N-glycans (Ikehara et al., 2006 [PubMed 16728562]).[supplied by OMIM, Aug 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acp2 |
C |
T |
2: 91,034,578 (GRCm39) |
|
probably benign |
Het |
Chd2 |
T |
C |
7: 73,102,914 (GRCm39) |
D1357G |
possibly damaging |
Het |
Dsg1b |
T |
C |
18: 20,530,446 (GRCm39) |
L367P |
probably benign |
Het |
Emsy |
A |
T |
7: 98,242,969 (GRCm39) |
F1057I |
probably damaging |
Het |
Fam171a2 |
A |
T |
11: 102,334,944 (GRCm39) |
F64L |
possibly damaging |
Het |
Fat4 |
T |
C |
3: 39,063,852 (GRCm39) |
S4603P |
probably benign |
Het |
Fyco1 |
T |
C |
9: 123,658,668 (GRCm39) |
T503A |
probably benign |
Het |
Gpr141b |
A |
T |
13: 19,913,707 (GRCm39) |
|
noncoding transcript |
Het |
Gpr179 |
T |
C |
11: 97,227,419 (GRCm39) |
T1579A |
possibly damaging |
Het |
Itgae |
T |
C |
11: 73,024,680 (GRCm39) |
|
probably null |
Het |
Lrriq3 |
A |
T |
3: 154,806,695 (GRCm39) |
I115F |
probably damaging |
Het |
Mmrn1 |
A |
G |
6: 60,965,419 (GRCm39) |
D1149G |
probably damaging |
Het |
Mylk |
A |
C |
16: 34,799,559 (GRCm39) |
K1650Q |
probably benign |
Het |
Nrap |
T |
C |
19: 56,334,000 (GRCm39) |
|
probably benign |
Het |
Or5h25 |
A |
C |
16: 58,930,919 (GRCm39) |
V18G |
probably benign |
Het |
Ovgp1 |
T |
A |
3: 105,888,641 (GRCm39) |
D332E |
probably damaging |
Het |
Pou2f1 |
A |
T |
1: 165,724,049 (GRCm39) |
I296K |
possibly damaging |
Het |
Psd4 |
A |
G |
2: 24,295,692 (GRCm39) |
|
probably benign |
Het |
Satb2 |
T |
C |
1: 56,884,802 (GRCm39) |
Q433R |
probably damaging |
Het |
Serpinb9f |
A |
T |
13: 33,511,899 (GRCm39) |
N134I |
probably damaging |
Het |
Slc6a3 |
A |
G |
13: 73,689,048 (GRCm39) |
N124S |
probably damaging |
Het |
Spta1 |
A |
G |
1: 174,041,710 (GRCm39) |
N1360S |
probably benign |
Het |
Strc |
G |
A |
2: 121,202,232 (GRCm39) |
T1212I |
probably damaging |
Het |
Tmtc3 |
T |
C |
10: 100,292,942 (GRCm39) |
K472R |
probably benign |
Het |
|
Other mutations in B4galnt3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01419:B4galnt3
|
APN |
6 |
120,192,351 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL01543:B4galnt3
|
APN |
6 |
120,186,273 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02692:B4galnt3
|
APN |
6 |
120,187,272 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03149:B4galnt3
|
APN |
6 |
120,208,555 (GRCm39) |
splice site |
probably benign |
|
Minimus
|
UTSW |
6 |
120,192,018 (GRCm39) |
missense |
probably benign |
|
R0121:B4galnt3
|
UTSW |
6 |
120,191,999 (GRCm39) |
missense |
probably benign |
|
R0414:B4galnt3
|
UTSW |
6 |
120,193,526 (GRCm39) |
missense |
probably benign |
0.05 |
R1885:B4galnt3
|
UTSW |
6 |
120,200,601 (GRCm39) |
missense |
probably damaging |
0.99 |
R1908:B4galnt3
|
UTSW |
6 |
120,187,051 (GRCm39) |
critical splice donor site |
probably null |
|
R2264:B4galnt3
|
UTSW |
6 |
120,180,771 (GRCm39) |
makesense |
probably null |
|
R4208:B4galnt3
|
UTSW |
6 |
120,192,063 (GRCm39) |
missense |
probably damaging |
0.99 |
R4353:B4galnt3
|
UTSW |
6 |
120,192,437 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4649:B4galnt3
|
UTSW |
6 |
120,201,581 (GRCm39) |
missense |
probably damaging |
1.00 |
R4874:B4galnt3
|
UTSW |
6 |
120,184,167 (GRCm39) |
missense |
probably damaging |
1.00 |
R5046:B4galnt3
|
UTSW |
6 |
120,191,759 (GRCm39) |
missense |
probably damaging |
1.00 |
R5232:B4galnt3
|
UTSW |
6 |
120,209,949 (GRCm39) |
missense |
probably damaging |
1.00 |
R5431:B4galnt3
|
UTSW |
6 |
120,195,928 (GRCm39) |
missense |
probably damaging |
1.00 |
R5447:B4galnt3
|
UTSW |
6 |
120,192,018 (GRCm39) |
missense |
probably benign |
|
R5458:B4galnt3
|
UTSW |
6 |
120,187,346 (GRCm39) |
missense |
probably damaging |
0.98 |
R5793:B4galnt3
|
UTSW |
6 |
120,185,865 (GRCm39) |
critical splice donor site |
probably null |
|
R5954:B4galnt3
|
UTSW |
6 |
120,202,149 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5985:B4galnt3
|
UTSW |
6 |
120,187,119 (GRCm39) |
missense |
probably damaging |
1.00 |
R6156:B4galnt3
|
UTSW |
6 |
120,191,801 (GRCm39) |
missense |
probably benign |
0.02 |
R6176:B4galnt3
|
UTSW |
6 |
120,201,125 (GRCm39) |
missense |
probably damaging |
1.00 |
R6207:B4galnt3
|
UTSW |
6 |
120,183,575 (GRCm39) |
splice site |
probably null |
|
R6565:B4galnt3
|
UTSW |
6 |
120,194,440 (GRCm39) |
nonsense |
probably null |
|
R7153:B4galnt3
|
UTSW |
6 |
120,191,929 (GRCm39) |
missense |
probably benign |
0.00 |
R7268:B4galnt3
|
UTSW |
6 |
120,192,003 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7307:B4galnt3
|
UTSW |
6 |
120,192,392 (GRCm39) |
missense |
probably benign |
0.00 |
R7311:B4galnt3
|
UTSW |
6 |
120,192,396 (GRCm39) |
nonsense |
probably null |
|
R7360:B4galnt3
|
UTSW |
6 |
120,209,940 (GRCm39) |
nonsense |
probably null |
|
R7538:B4galnt3
|
UTSW |
6 |
120,271,384 (GRCm39) |
nonsense |
probably null |
|
R7674:B4galnt3
|
UTSW |
6 |
120,192,166 (GRCm39) |
missense |
probably benign |
0.01 |
R7706:B4galnt3
|
UTSW |
6 |
120,195,913 (GRCm39) |
missense |
probably benign |
0.16 |
R7727:B4galnt3
|
UTSW |
6 |
120,202,148 (GRCm39) |
missense |
probably benign |
0.03 |
R8125:B4galnt3
|
UTSW |
6 |
120,201,554 (GRCm39) |
missense |
probably damaging |
0.99 |
R8131:B4galnt3
|
UTSW |
6 |
120,271,346 (GRCm39) |
splice site |
probably null |
|
R8170:B4galnt3
|
UTSW |
6 |
120,183,577 (GRCm39) |
splice site |
probably null |
|
R9225:B4galnt3
|
UTSW |
6 |
120,195,928 (GRCm39) |
missense |
probably damaging |
1.00 |
R9462:B4galnt3
|
UTSW |
6 |
120,271,438 (GRCm39) |
missense |
probably null |
0.38 |
R9531:B4galnt3
|
UTSW |
6 |
120,180,802 (GRCm39) |
missense |
probably damaging |
1.00 |
R9544:B4galnt3
|
UTSW |
6 |
120,209,905 (GRCm39) |
missense |
probably damaging |
1.00 |
X0028:B4galnt3
|
UTSW |
6 |
120,208,513 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Posted On |
2016-08-02 |