Incidental Mutation 'R6565:B4galnt3'
| ID |
522615 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
B4galnt3
|
| Ensembl Gene |
ENSMUSG00000041372 |
| Gene Name |
beta-1,4-N-acetyl-galactosaminyl transferase 3 |
| Synonyms |
|
| MMRRC Submission |
044689-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R6565 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
120180034-120271520 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 120194440 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 362
(Q362*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148759
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057283]
[ENSMUST00000212457]
|
| AlphaFold |
Q6L8S8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000057283
AA Change: Q362*
|
| SMART Domains |
Protein: ENSMUSP00000058253
Gene: ENSMUSG00000041372
AA Change: Q362*
| 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 null
Transcript: ENSMUST00000212457
AA Change: Q362*
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.5%
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
C |
A |
15: 60,792,659 (GRCm39) |
C96F |
probably damaging |
Het |
| Abca7 |
C |
T |
10: 79,847,622 (GRCm39) |
P1764L |
probably damaging |
Het |
| Acvr1 |
G |
A |
2: 58,369,769 (GRCm39) |
T80M |
probably damaging |
Het |
| Adgrb2 |
T |
C |
4: 129,913,069 (GRCm39) |
L1398P |
probably damaging |
Het |
| Cadm3 |
G |
T |
1: 173,169,276 (GRCm39) |
Q246K |
possibly damaging |
Het |
| Cdc14b |
T |
C |
13: 64,373,444 (GRCm39) |
T110A |
probably benign |
Het |
| Cyp2c55 |
A |
C |
19: 39,030,566 (GRCm39) |
D466A |
probably benign |
Het |
| Dmrtb1 |
T |
C |
4: 107,536,542 (GRCm39) |
Y308C |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 15,826,623 (GRCm39) |
D4443G |
probably benign |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Grin2d |
A |
G |
7: 45,484,179 (GRCm39) |
L772P |
probably damaging |
Het |
| Gsdme |
T |
C |
6: 50,206,429 (GRCm39) |
N138S |
probably damaging |
Het |
| Hmgb4 |
T |
A |
4: 128,154,388 (GRCm39) |
Y60F |
probably benign |
Het |
| Ift172 |
G |
A |
5: 31,433,227 (GRCm39) |
A554V |
possibly damaging |
Het |
| Iigp1 |
T |
A |
18: 60,523,839 (GRCm39) |
V319E |
probably damaging |
Het |
| Kit |
A |
G |
5: 75,806,513 (GRCm39) |
T673A |
probably damaging |
Het |
| Lilra6 |
A |
T |
7: 3,918,019 (GRCm39) |
W42R |
probably benign |
Het |
| Mia3 |
A |
T |
1: 183,112,340 (GRCm39) |
H477Q |
probably damaging |
Het |
| Oas1b |
C |
A |
5: 120,952,611 (GRCm39) |
Q101K |
possibly damaging |
Het |
| Or2v1 |
A |
G |
11: 49,025,639 (GRCm39) |
M207V |
probably damaging |
Het |
| Or51a5 |
T |
C |
7: 102,771,445 (GRCm39) |
H178R |
probably damaging |
Het |
| Plcl1 |
T |
A |
1: 55,737,117 (GRCm39) |
C819* |
probably null |
Het |
| Pmfbp1 |
C |
T |
8: 110,252,060 (GRCm39) |
Q402* |
probably null |
Het |
| Rps19bp1 |
CCTTCTTCTTCTTCTTCTTCTT |
CCTTCTTCTTCTTCTTCTT |
15: 80,145,250 (GRCm39) |
|
probably benign |
Het |
| Skor2 |
C |
G |
18: 76,947,607 (GRCm39) |
A443G |
possibly damaging |
Het |
| Tapbpl |
A |
G |
6: 125,205,307 (GRCm39) |
V213A |
probably benign |
Het |
| Trim52 |
G |
A |
14: 106,344,653 (GRCm39) |
D104N |
probably damaging |
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 |
|
|
IGL03272:B4galnt3
|
APN |
6 |
120,193,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCTGCAGGGTCTCCAGAAC -3'
(R):5'- AGCTTGAGTGGGGACATCAG -3'
Sequencing Primer
(F):5'- AGGGTCTCCAGAACACCTTAGTG -3'
(R):5'- TGGGGACATCAGGCCTCTC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation