Incidental Mutation 'R8131:B4galnt3'
| ID |
652058 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
B4galnt3
|
| Ensembl Gene |
ENSMUSG00000041372 |
| Gene Name |
beta-1,4-N-acetyl-galactosaminyl transferase 3 |
| Synonyms |
|
| MMRRC Submission |
067560-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R8131 (G1)
|
| Quality Score |
156.008 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
120180034-120271520 bp(-) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 120271346 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148759
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057283]
[ENSMUST00000057283]
[ENSMUST00000181956]
[ENSMUST00000212457]
[ENSMUST00000212457]
|
| AlphaFold |
Q6L8S8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000057283
|
| SMART Domains |
Protein: ENSMUSP00000058253
Gene: ENSMUSG00000041372
| 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 |
probably null
Transcript: ENSMUST00000057283
|
| SMART Domains |
Protein: ENSMUSP00000058253
Gene: ENSMUSG00000041372
| 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 |
silent
Transcript: ENSMUST00000181956
|
| SMART Domains |
Protein: ENSMUSP00000137733
Gene: ENSMUSG00000097481
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
48 |
N/A |
INTRINSIC |
|
low complexity region
|
121 |
135 |
N/A |
INTRINSIC |
|
low complexity region
|
146 |
156 |
N/A |
INTRINSIC |
|
low complexity region
|
163 |
184 |
N/A |
INTRINSIC |
|
low complexity region
|
194 |
210 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000212457
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000212457
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 96.1%
|
| Validation Efficiency |
100% (50/50) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930544D05Rik |
A |
G |
11: 70,506,834 (GRCm39) |
|
probably null |
Het |
| Abcb10 |
C |
T |
8: 124,691,757 (GRCm39) |
A403T |
|
Het |
| Acan |
C |
T |
7: 78,741,086 (GRCm39) |
P484L |
possibly damaging |
Het |
| Amotl2 |
T |
A |
9: 102,597,615 (GRCm39) |
Y125N |
probably damaging |
Het |
| Apaf1 |
C |
A |
10: 90,913,420 (GRCm39) |
V168F |
possibly damaging |
Het |
| Arhgap32 |
C |
T |
9: 32,158,426 (GRCm39) |
H154Y |
probably damaging |
Het |
| Bahcc1 |
C |
T |
11: 120,163,664 (GRCm39) |
A654V |
probably benign |
Het |
| Bcl11b |
T |
A |
12: 107,931,967 (GRCm39) |
M202L |
probably benign |
Het |
| Cdc40 |
C |
A |
10: 40,717,473 (GRCm39) |
R406L |
possibly damaging |
Het |
| Cemip |
C |
A |
7: 83,652,616 (GRCm39) |
|
probably benign |
Het |
| Col26a1 |
T |
C |
5: 136,775,894 (GRCm39) |
D353G |
probably benign |
Het |
| Col6a5 |
T |
A |
9: 105,778,815 (GRCm39) |
Q1682L |
unknown |
Het |
| Cul9 |
C |
T |
17: 46,822,168 (GRCm39) |
G1819D |
probably damaging |
Het |
| Cyp2b10 |
C |
T |
7: 25,614,242 (GRCm39) |
Q239* |
probably null |
Het |
| Dthd1 |
T |
A |
5: 63,000,259 (GRCm39) |
I527N |
probably damaging |
Het |
| Dzip3 |
C |
T |
16: 48,754,156 (GRCm39) |
|
probably null |
Het |
| Ecm2 |
A |
G |
13: 49,671,940 (GRCm39) |
E147G |
probably benign |
Het |
| Ercc6l2 |
C |
T |
13: 63,982,561 (GRCm39) |
T132M |
probably damaging |
Het |
| Esf1 |
G |
A |
2: 139,990,751 (GRCm39) |
Q578* |
probably null |
Het |
| Gria4 |
C |
T |
9: 4,502,429 (GRCm39) |
R368H |
probably benign |
Het |
| Hps5 |
T |
C |
7: 46,421,312 (GRCm39) |
D717G |
probably benign |
Het |
| Hrh1 |
A |
T |
6: 114,457,253 (GRCm39) |
D178V |
probably benign |
Het |
| Inppl1 |
T |
C |
7: 101,479,268 (GRCm39) |
N537S |
possibly damaging |
Het |
| Itih1 |
T |
C |
14: 30,663,521 (GRCm39) |
Y165C |
probably damaging |
Het |
| Krt71 |
T |
A |
15: 101,643,141 (GRCm39) |
I456F |
possibly damaging |
Het |
| Larp4 |
T |
C |
15: 99,892,570 (GRCm39) |
V255A |
probably damaging |
Het |
| Lrriq1 |
T |
G |
10: 103,051,572 (GRCm39) |
R393S |
possibly damaging |
Het |
| Mep1a |
T |
A |
17: 43,813,558 (GRCm39) |
I31L |
probably benign |
Het |
| Muc5b |
C |
T |
7: 141,396,146 (GRCm39) |
T134I |
unknown |
Het |
| Neurl4 |
T |
C |
11: 69,800,067 (GRCm39) |
Y1052H |
probably benign |
Het |
| Nlrc5 |
C |
G |
8: 95,208,420 (GRCm39) |
N755K |
probably damaging |
Het |
| Nrde2 |
T |
C |
12: 100,108,502 (GRCm39) |
K363R |
probably benign |
Het |
| Pcdhb12 |
T |
C |
18: 37,570,335 (GRCm39) |
S494P |
possibly damaging |
Het |
| Pcnx1 |
C |
A |
12: 81,965,292 (GRCm39) |
S486R |
possibly damaging |
Het |
| Pira13 |
T |
A |
7: 3,825,161 (GRCm39) |
R494* |
probably null |
Het |
| Plrg1 |
T |
A |
3: 82,977,081 (GRCm39) |
V374E |
probably damaging |
Het |
| Plxnb2 |
A |
G |
15: 89,042,916 (GRCm39) |
I1491T |
probably damaging |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Scn4a |
T |
C |
11: 106,232,367 (GRCm39) |
E490G |
probably benign |
Het |
| Sec16a |
A |
G |
2: 26,300,958 (GRCm39) |
V887A |
|
Het |
| Serpina3a |
T |
C |
12: 104,082,467 (GRCm39) |
I80T |
probably damaging |
Het |
| Setd1b |
A |
T |
5: 123,281,443 (GRCm39) |
I66F |
unknown |
Het |
| Slirp |
T |
A |
12: 87,494,428 (GRCm39) |
|
probably null |
Het |
| Socs6 |
A |
C |
18: 88,888,169 (GRCm39) |
S249A |
probably benign |
Het |
| Thoc2l |
A |
G |
5: 104,669,027 (GRCm39) |
E1183G |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,616,077 (GRCm39) |
I16622N |
probably damaging |
Het |
| Uox |
A |
T |
3: 146,331,589 (GRCm39) |
T237S |
probably damaging |
Het |
| Vmn2r43 |
T |
A |
7: 8,258,326 (GRCm39) |
I296L |
probably benign |
Het |
| Vmn2r74 |
T |
A |
7: 85,601,943 (GRCm39) |
D565V |
probably benign |
Het |
| Vps13b |
T |
C |
15: 35,372,255 (GRCm39) |
|
probably null |
Het |
| Vps13d |
A |
G |
4: 144,882,707 (GRCm39) |
V962A |
|
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 |
|
|
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 |
|
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'- TCGCAAACAGCTCTGTCCC -3'
(R):5'- GAAAGCGCCCTAACTGCAG -3'
Sequencing Primer
(F):5'- AAACAGCTCTGTCCCGCGAG -3'
(R):5'- TCGAGCATGAGCAGTCGG -3'
|
| Posted On |
2020-10-02 |
Incidental Mutation