Incidental Mutation 'R4874:B4galnt3'
ID |
376773 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
B4galnt3
|
Ensembl Gene |
ENSMUSG00000041372 |
Gene Name |
beta-1,4-N-acetyl-galactosaminyl transferase 3 |
Synonyms |
|
MMRRC Submission |
042484-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R4874 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
120180034-120271520 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 120184167 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 880
(R880L)
|
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: R881L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000058253 Gene: ENSMUSG00000041372 AA Change: R881L
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: R880L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.9498 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
Validation Efficiency |
94% (51/54) |
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadat |
G |
A |
8: 60,969,147 (GRCm39) |
|
probably null |
Het |
Adamtsl1 |
A |
G |
4: 86,260,729 (GRCm39) |
N988S |
possibly damaging |
Het |
Aph1b |
A |
T |
9: 66,697,878 (GRCm39) |
|
probably null |
Het |
Bcam |
T |
C |
7: 19,503,247 (GRCm39) |
|
probably benign |
Het |
Cr2 |
A |
T |
1: 194,858,878 (GRCm39) |
I14N |
possibly damaging |
Het |
Dcdc5 |
T |
C |
2: 106,198,451 (GRCm39) |
|
noncoding transcript |
Het |
Dll1 |
A |
T |
17: 15,590,501 (GRCm39) |
M405K |
probably benign |
Het |
Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
Ern2 |
T |
C |
7: 121,775,810 (GRCm39) |
D428G |
probably benign |
Het |
Esp36 |
A |
T |
17: 38,727,987 (GRCm39) |
M98K |
unknown |
Het |
Foxd2 |
G |
T |
4: 114,764,768 (GRCm39) |
H417Q |
possibly damaging |
Het |
Glrb |
T |
C |
3: 80,758,349 (GRCm39) |
N304D |
possibly damaging |
Het |
Haus3 |
A |
G |
5: 34,324,972 (GRCm39) |
V229A |
probably benign |
Het |
Hpgd |
A |
T |
8: 56,770,838 (GRCm39) |
I159F |
possibly damaging |
Het |
Ighv1-22 |
T |
A |
12: 114,710,036 (GRCm39) |
I70F |
probably benign |
Het |
Il16 |
A |
T |
7: 83,310,153 (GRCm39) |
F584L |
possibly damaging |
Het |
Lamc2 |
T |
C |
1: 153,030,141 (GRCm39) |
D167G |
probably null |
Het |
Megf10 |
G |
A |
18: 57,426,930 (GRCm39) |
V1083I |
probably benign |
Het |
Mertk |
T |
C |
2: 128,592,079 (GRCm39) |
S268P |
probably damaging |
Het |
Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
Mki67 |
T |
C |
7: 135,310,500 (GRCm39) |
D132G |
probably damaging |
Het |
Nbas |
A |
G |
12: 13,371,756 (GRCm39) |
N419D |
probably damaging |
Het |
Negr1 |
T |
C |
3: 156,565,082 (GRCm39) |
L56S |
probably damaging |
Het |
Nup214 |
A |
G |
2: 31,870,596 (GRCm39) |
|
probably null |
Het |
Opn5 |
C |
G |
17: 42,891,610 (GRCm39) |
A276P |
probably damaging |
Het |
Or10j5 |
A |
G |
1: 172,785,166 (GRCm39) |
E268G |
probably benign |
Het |
Or2d3 |
C |
T |
7: 106,490,642 (GRCm39) |
V225I |
probably benign |
Het |
Or5t9 |
T |
A |
2: 86,659,598 (GRCm39) |
H167Q |
probably damaging |
Het |
Papln |
G |
T |
12: 83,823,917 (GRCm39) |
V499L |
probably benign |
Het |
Pgap1 |
A |
T |
1: 54,569,296 (GRCm39) |
W357R |
probably damaging |
Het |
Pibf1 |
T |
C |
14: 99,377,992 (GRCm39) |
Y373H |
probably damaging |
Het |
Pitpnm1 |
T |
C |
19: 4,162,252 (GRCm39) |
|
probably null |
Het |
Prcd |
T |
A |
11: 116,550,597 (GRCm39) |
W3R |
probably null |
Het |
Prkaa1 |
A |
G |
15: 5,203,838 (GRCm39) |
N249S |
probably benign |
Het |
Reg3b |
T |
A |
6: 78,349,809 (GRCm39) |
N116K |
possibly damaging |
Het |
Rpusd2 |
T |
C |
2: 118,865,360 (GRCm39) |
L19P |
probably benign |
Het |
Rufy1 |
T |
C |
11: 50,297,277 (GRCm39) |
T392A |
possibly damaging |
Het |
Sall3 |
T |
C |
18: 81,017,188 (GRCm39) |
K247E |
probably benign |
Het |
Shank1 |
C |
T |
7: 43,965,497 (GRCm39) |
T191M |
unknown |
Het |
Slit1 |
C |
T |
19: 41,717,493 (GRCm39) |
|
probably null |
Het |
Sorl1 |
A |
T |
9: 41,975,048 (GRCm39) |
V520E |
probably damaging |
Het |
Vmn2r115 |
T |
A |
17: 23,578,825 (GRCm39) |
F766Y |
probably damaging |
Het |
Wdr87-ps |
A |
G |
7: 29,235,608 (GRCm39) |
|
noncoding transcript |
Het |
Zfp644 |
A |
G |
5: 106,783,279 (GRCm39) |
S1032P |
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 |
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'- AGCCTGAGGTCTGTCCAAAG -3'
(R):5'- GAGATTGTAGAAATTTGCCCTGTG -3'
Sequencing Primer
(F):5'- TGAGGTCTGTCCAAAGCTCAGAC -3'
(R):5'- AGAAATTTGCCCTGTGTTTGG -3'
|
Posted On |
2016-03-17 |