Incidental Mutation 'R0414:B4galnt3'
ID |
40162 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
B4galnt3
|
Ensembl Gene |
ENSMUSG00000041372 |
Gene Name |
beta-1,4-N-acetyl-galactosaminyl transferase 3 |
Synonyms |
|
MMRRC Submission |
038616-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R0414 (G1)
|
Quality Score |
196 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
120180034-120271520 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 120193526 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 400
(D400G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058253
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057283]
[ENSMUST00000212457]
|
AlphaFold |
Q6L8S8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000057283
AA Change: D400G
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000058253 Gene: ENSMUSG00000041372 AA Change: D400G
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 benign
Transcript: ENSMUST00000212457
AA Change: D400G
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.6%
|
Validation Efficiency |
96% (64/67) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700016H13Rik |
A |
T |
5: 103,797,356 (GRCm39) |
V51E |
probably benign |
Het |
Abo |
T |
C |
2: 26,733,428 (GRCm39) |
Y259C |
probably damaging |
Het |
Adamts5 |
A |
G |
16: 85,674,794 (GRCm39) |
S457P |
probably damaging |
Het |
Alk |
G |
T |
17: 72,206,281 (GRCm39) |
|
probably benign |
Het |
Alpk2 |
A |
G |
18: 65,439,230 (GRCm39) |
I1188T |
probably benign |
Het |
Ambra1 |
T |
C |
2: 91,706,084 (GRCm39) |
S730P |
possibly damaging |
Het |
Arhgef2 |
T |
C |
3: 88,539,575 (GRCm39) |
|
probably benign |
Het |
Atpsckmt |
T |
A |
15: 31,617,148 (GRCm39) |
Y126* |
probably null |
Het |
B3gnt7 |
T |
C |
1: 86,233,351 (GRCm39) |
I82T |
probably damaging |
Het |
Bag4 |
A |
G |
8: 26,258,025 (GRCm39) |
V434A |
possibly damaging |
Het |
Cfap251 |
A |
G |
5: 123,425,476 (GRCm39) |
|
probably null |
Het |
Cfc1 |
A |
G |
1: 34,576,409 (GRCm39) |
D130G |
probably damaging |
Het |
Chd4 |
T |
C |
6: 125,084,443 (GRCm39) |
Y692H |
probably damaging |
Het |
Cilp2 |
A |
G |
8: 70,335,643 (GRCm39) |
S452P |
probably benign |
Het |
Clec2m |
T |
C |
6: 129,303,813 (GRCm39) |
|
probably benign |
Het |
Crybg2 |
GAGAAGAAG |
GAGAAG |
4: 133,799,947 (GRCm39) |
|
probably benign |
Het |
Dnah2 |
T |
C |
11: 69,390,064 (GRCm39) |
D727G |
probably benign |
Het |
Dock10 |
C |
A |
1: 80,513,650 (GRCm39) |
V1129F |
possibly damaging |
Het |
Dsc1 |
A |
T |
18: 20,221,411 (GRCm39) |
I688N |
possibly damaging |
Het |
Dyrk1a |
C |
G |
16: 94,464,701 (GRCm39) |
T103R |
probably damaging |
Het |
Ebf1 |
C |
T |
11: 44,815,297 (GRCm39) |
R304* |
probably null |
Het |
Eif2s2 |
A |
G |
2: 154,726,381 (GRCm39) |
|
probably benign |
Het |
Endov |
T |
G |
11: 119,390,397 (GRCm39) |
Y8* |
probably null |
Het |
Eps15 |
T |
A |
4: 109,223,677 (GRCm39) |
D485E |
probably damaging |
Het |
Fam118a |
C |
A |
15: 84,929,890 (GRCm39) |
S39R |
probably damaging |
Het |
Fbxo22 |
T |
A |
9: 55,130,910 (GRCm39) |
M393K |
possibly damaging |
Het |
Firrm |
T |
C |
1: 163,795,890 (GRCm39) |
I434V |
probably benign |
Het |
Gab1 |
A |
G |
8: 81,526,918 (GRCm39) |
I60T |
probably damaging |
Het |
Gapvd1 |
A |
G |
2: 34,583,439 (GRCm39) |
L1059P |
probably benign |
Het |
Gbp5 |
A |
G |
3: 142,213,674 (GRCm39) |
|
probably null |
Het |
Glb1l2 |
T |
A |
9: 26,676,400 (GRCm39) |
K487* |
probably null |
Het |
H1f1 |
A |
G |
13: 23,948,141 (GRCm39) |
|
probably benign |
Het |
Hmcn1 |
T |
C |
1: 150,591,573 (GRCm39) |
I1875M |
possibly damaging |
Het |
Jkamp |
T |
C |
12: 72,140,919 (GRCm39) |
|
probably null |
Het |
Kprp |
C |
T |
3: 92,733,020 (GRCm39) |
C10Y |
probably damaging |
Het |
Lrig2 |
A |
G |
3: 104,401,372 (GRCm39) |
|
probably null |
Het |
Lrrn3 |
T |
A |
12: 41,503,939 (GRCm39) |
N126I |
probably damaging |
Het |
Mug1 |
T |
C |
6: 121,833,513 (GRCm39) |
F325L |
probably benign |
Het |
Myadm |
AC |
ACC |
7: 3,345,276 (GRCm39) |
|
probably null |
Het |
Nagk |
C |
T |
6: 83,774,249 (GRCm39) |
R87* |
probably null |
Het |
Nipal4 |
T |
A |
11: 46,052,735 (GRCm39) |
I77F |
probably damaging |
Het |
Or4c112 |
A |
G |
2: 88,853,490 (GRCm39) |
Y286H |
probably damaging |
Het |
Osbp2 |
T |
C |
11: 3,769,932 (GRCm39) |
H250R |
probably damaging |
Het |
Pcx |
T |
C |
19: 4,657,670 (GRCm39) |
V378A |
possibly damaging |
Het |
Pfkp |
T |
A |
13: 6,643,246 (GRCm39) |
H524L |
probably benign |
Het |
Picalm |
A |
T |
7: 89,838,406 (GRCm39) |
N370I |
possibly damaging |
Het |
Plcl2 |
A |
C |
17: 50,914,983 (GRCm39) |
D664A |
possibly damaging |
Het |
Ptpn5 |
G |
A |
7: 46,732,884 (GRCm39) |
P320S |
probably benign |
Het |
Scn3a |
T |
A |
2: 65,356,326 (GRCm39) |
|
probably benign |
Het |
Sfswap |
A |
G |
5: 129,581,115 (GRCm39) |
D96G |
possibly damaging |
Het |
Slfn1 |
A |
G |
11: 83,012,096 (GRCm39) |
I71V |
probably benign |
Het |
Spata1 |
A |
G |
3: 146,181,943 (GRCm39) |
|
probably null |
Het |
Stx18 |
T |
C |
5: 38,262,349 (GRCm39) |
|
probably benign |
Het |
Suox |
T |
A |
10: 128,507,326 (GRCm39) |
H234L |
probably benign |
Het |
Tbc1d17 |
T |
C |
7: 44,495,483 (GRCm39) |
S114G |
probably benign |
Het |
Tfeb |
T |
A |
17: 48,099,224 (GRCm39) |
|
probably null |
Het |
Tnks |
A |
C |
8: 35,320,463 (GRCm39) |
V736G |
probably damaging |
Het |
Wdhd1 |
T |
C |
14: 47,514,045 (GRCm39) |
T4A |
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 |
|
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACCAGACTCCTCCAGGTTTTACCAG -3'
(R):5'- CTATCCCAGAAAGAGCAGGCATGAG -3'
Sequencing Primer
(F):5'- TCCAGGTTTTACCAGGGCAG -3'
(R):5'- CCGATTCAAGGCTGCATAAATG -3'
|
Posted On |
2013-05-23 |