Incidental Mutation 'R4208:B4galnt3'
ID |
319024 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
B4galnt3
|
Ensembl Gene |
ENSMUSG00000041372 |
Gene Name |
beta-1,4-N-acetyl-galactosaminyl transferase 3 |
Synonyms |
|
MMRRC Submission |
041037-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R4208 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
120180034-120271520 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 120192063 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 557
(S557P)
|
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: S558P
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000058253 Gene: ENSMUSG00000041372 AA Change: S558P
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: S557P
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
Meta Mutation Damage Score |
0.0918 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.1%
|
Validation Efficiency |
100% (57/57) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1cf |
T |
C |
19: 31,910,060 (GRCm39) |
L284P |
probably benign |
Het |
Abca8b |
G |
A |
11: 109,872,551 (GRCm39) |
Q17* |
probably null |
Het |
Abcc6 |
A |
C |
7: 45,635,987 (GRCm39) |
L1020R |
probably damaging |
Het |
Ace2 |
A |
G |
X: 162,952,581 (GRCm39) |
I110V |
probably benign |
Het |
Adamts12 |
A |
G |
15: 11,071,840 (GRCm39) |
H128R |
probably benign |
Het |
Aoc1l2 |
A |
T |
6: 48,908,581 (GRCm39) |
D527V |
probably damaging |
Het |
Apol9a |
G |
C |
15: 77,288,596 (GRCm39) |
T257S |
probably benign |
Het |
C3 |
C |
T |
17: 57,512,303 (GRCm39) |
D1542N |
possibly damaging |
Het |
Casp12 |
T |
C |
9: 5,346,629 (GRCm39) |
L52P |
probably damaging |
Het |
Cep126 |
C |
T |
9: 8,100,822 (GRCm39) |
E571K |
probably damaging |
Het |
Cfhr1 |
A |
G |
1: 139,475,616 (GRCm39) |
|
probably benign |
Het |
Cmah |
A |
G |
13: 24,601,410 (GRCm39) |
|
probably null |
Het |
Col10a1 |
C |
T |
10: 34,271,539 (GRCm39) |
P504S |
probably damaging |
Het |
Ctnna3 |
T |
A |
10: 64,795,557 (GRCm39) |
D758E |
probably benign |
Het |
Cyp2c65 |
T |
C |
19: 39,079,099 (GRCm39) |
S393P |
probably damaging |
Het |
Dclk2 |
A |
G |
3: 86,738,129 (GRCm39) |
|
probably null |
Het |
Dis3 |
T |
G |
14: 99,332,752 (GRCm39) |
I227L |
probably benign |
Het |
Efhc2 |
T |
C |
X: 17,096,789 (GRCm39) |
N186S |
possibly damaging |
Het |
F13b |
G |
T |
1: 139,444,079 (GRCm39) |
W471L |
probably damaging |
Het |
Fam181a |
A |
G |
12: 103,282,173 (GRCm39) |
D26G |
probably damaging |
Het |
Gabpb2 |
A |
G |
3: 95,111,245 (GRCm39) |
|
probably benign |
Het |
Gm7293 |
A |
G |
9: 51,534,879 (GRCm39) |
|
noncoding transcript |
Het |
H3f3a |
C |
T |
1: 180,630,703 (GRCm39) |
R117H |
probably benign |
Het |
Ino80b |
G |
C |
6: 83,099,314 (GRCm39) |
P178R |
probably damaging |
Het |
Kif3b |
G |
A |
2: 153,165,477 (GRCm39) |
R628Q |
probably damaging |
Het |
Lars1 |
T |
C |
18: 42,362,768 (GRCm39) |
E557G |
probably benign |
Het |
Ldlrad3 |
C |
T |
2: 101,783,507 (GRCm39) |
D240N |
probably damaging |
Het |
Lingo2 |
T |
C |
4: 35,709,810 (GRCm39) |
I57V |
probably benign |
Het |
Lsr |
A |
G |
7: 30,672,519 (GRCm39) |
I27T |
probably benign |
Het |
Me2 |
T |
C |
18: 73,924,156 (GRCm39) |
K352R |
probably benign |
Het |
Met |
T |
C |
6: 17,548,728 (GRCm39) |
V924A |
possibly damaging |
Het |
Mpp3 |
T |
C |
11: 101,891,426 (GRCm39) |
T571A |
probably benign |
Het |
Or4c1 |
A |
T |
2: 89,133,270 (GRCm39) |
I222N |
probably damaging |
Het |
Or52n3 |
A |
G |
7: 104,530,810 (GRCm39) |
T299A |
probably damaging |
Het |
Padi1 |
C |
A |
4: 140,544,538 (GRCm39) |
V552L |
possibly damaging |
Het |
Pfkfb1 |
A |
T |
X: 149,405,184 (GRCm39) |
D208V |
possibly damaging |
Het |
Rnase4 |
A |
G |
14: 51,342,462 (GRCm39) |
K62R |
probably benign |
Het |
RP24-126A19.1 |
C |
A |
5: 146,832,606 (GRCm39) |
R123L |
noncoding transcript |
Het |
Scn10a |
T |
A |
9: 119,445,842 (GRCm39) |
E1438V |
probably damaging |
Het |
Sfmbt2 |
T |
A |
2: 10,547,793 (GRCm39) |
D458E |
probably damaging |
Het |
Slitrk3 |
T |
A |
3: 72,958,490 (GRCm39) |
Y94F |
possibly damaging |
Het |
Sstr2 |
A |
C |
11: 113,515,482 (GRCm39) |
T134P |
probably damaging |
Het |
Steap4 |
A |
G |
5: 8,030,404 (GRCm39) |
Y420C |
probably damaging |
Het |
Tamm41 |
AGGG |
AGG |
6: 114,989,320 (GRCm39) |
|
probably benign |
Het |
Trav7-3 |
A |
G |
14: 53,681,203 (GRCm39) |
T82A |
probably benign |
Het |
Trbv23 |
A |
T |
6: 41,193,022 (GRCm39) |
I6F |
probably benign |
Het |
Vmn1r87 |
A |
G |
7: 12,866,185 (GRCm39) |
V34A |
probably benign |
Het |
Zc3h7a |
C |
T |
16: 10,982,508 (GRCm39) |
E6K |
possibly damaging |
Het |
Zfp606 |
G |
A |
7: 12,228,102 (GRCm39) |
C683Y |
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 |
|
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'- GGGTCAAACATAGGCACATATTCG -3'
(R):5'- GTAGCGCCTCTTTCCAAACAG -3'
Sequencing Primer
(F):5'- TAGGCACATATTCGAACACCTC -3'
(R):5'- ACTGCCTTTCCAACCAGG -3'
|
Posted On |
2015-06-10 |