Incidental Mutation 'R5447:B4galnt3'
| ID |
429129 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
B4galnt3
|
| Ensembl Gene |
ENSMUSG00000041372 |
| Gene Name |
beta-1,4-N-acetyl-galactosaminyl transferase 3 |
| Synonyms |
|
| MMRRC Submission |
043012-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R5447 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
120180034-120271520 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120192018 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 572
(T572A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148759
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057283]
[ENSMUST00000212457]
|
| AlphaFold |
Q6L8S8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057283
AA Change: T573A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000058253
Gene: ENSMUSG00000041372
AA Change: T573A
| 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: T572A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
97% (71/73) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
C |
12: 118,891,061 (GRCm39) |
I479V |
probably damaging |
Het |
| Adam30 |
A |
G |
3: 98,068,659 (GRCm39) |
D164G |
probably benign |
Het |
| Adgrl3 |
T |
A |
5: 81,613,188 (GRCm39) |
|
probably benign |
Het |
| Adrb1 |
T |
C |
19: 56,711,519 (GRCm39) |
I239T |
probably benign |
Het |
| Albfm1 |
C |
A |
5: 90,732,169 (GRCm39) |
A458E |
probably damaging |
Het |
| Baz2b |
T |
C |
2: 59,744,332 (GRCm39) |
E1391G |
probably damaging |
Het |
| BC016579 |
A |
G |
16: 45,469,252 (GRCm39) |
V72A |
probably benign |
Het |
| Btnl10 |
A |
T |
11: 58,813,144 (GRCm39) |
I258F |
probably benign |
Het |
| Cdh5 |
A |
T |
8: 104,855,994 (GRCm39) |
D309V |
probably damaging |
Het |
| Cdhr2 |
A |
G |
13: 54,881,063 (GRCm39) |
D1042G |
probably damaging |
Het |
| Clk2 |
G |
T |
3: 89,074,498 (GRCm39) |
V53F |
possibly damaging |
Het |
| Cyfip2 |
T |
C |
11: 46,182,413 (GRCm39) |
D15G |
possibly damaging |
Het |
| Dip2b |
C |
T |
15: 100,109,867 (GRCm39) |
R1451C |
probably damaging |
Het |
| Dmbt1 |
A |
G |
7: 130,721,240 (GRCm39) |
Y1836C |
probably damaging |
Het |
| Dysf |
T |
C |
6: 84,172,245 (GRCm39) |
F1905L |
probably damaging |
Het |
| E130114P18Rik |
A |
G |
4: 97,578,955 (GRCm39) |
S7P |
unknown |
Het |
| Fam110a |
T |
C |
2: 151,812,629 (GRCm39) |
E47G |
probably damaging |
Het |
| Gemin6 |
T |
G |
17: 80,535,178 (GRCm39) |
V46G |
probably damaging |
Het |
| Helb |
T |
A |
10: 119,938,806 (GRCm39) |
D556V |
possibly damaging |
Het |
| Hoxd4 |
A |
G |
2: 74,557,687 (GRCm39) |
E22G |
probably damaging |
Het |
| Hsd17b8 |
A |
T |
17: 34,245,886 (GRCm39) |
V202D |
probably damaging |
Het |
| Il1rl2 |
T |
G |
1: 40,368,316 (GRCm39) |
I162R |
probably damaging |
Het |
| Lhfpl5 |
A |
G |
17: 28,795,071 (GRCm39) |
T33A |
probably damaging |
Het |
| Mapk8ip3 |
G |
A |
17: 25,118,163 (GRCm39) |
A1283V |
probably benign |
Het |
| Mettl13 |
A |
G |
1: 162,363,449 (GRCm39) |
V227A |
probably benign |
Het |
| Mmgt2 |
T |
A |
11: 62,555,824 (GRCm39) |
C57* |
probably null |
Het |
| Muc4 |
G |
C |
16: 32,753,919 (GRCm38) |
R1265P |
probably benign |
Het |
| Mylk2 |
T |
C |
2: 152,754,430 (GRCm39) |
S175P |
probably damaging |
Het |
| Neu4 |
C |
T |
1: 93,950,140 (GRCm39) |
T33M |
probably damaging |
Het |
| Nfs1 |
C |
T |
2: 155,984,056 (GRCm39) |
R107H |
probably benign |
Het |
| Nfxl1 |
C |
T |
5: 72,686,512 (GRCm39) |
R563Q |
probably benign |
Het |
| Nid1 |
A |
G |
13: 13,612,495 (GRCm39) |
D70G |
probably benign |
Het |
| Nup160 |
C |
A |
2: 90,555,959 (GRCm39) |
Q1220K |
possibly damaging |
Het |
| Or1ad8 |
G |
A |
11: 50,898,170 (GRCm39) |
V124M |
possibly damaging |
Het |
| Or1e22 |
A |
G |
11: 73,377,002 (GRCm39) |
V216A |
probably benign |
Het |
| Or52s6 |
A |
C |
7: 103,092,147 (GRCm39) |
M61R |
probably damaging |
Het |
| Or5k8 |
A |
T |
16: 58,644,846 (GRCm39) |
C75* |
probably null |
Het |
| Pdgfrb |
T |
A |
18: 61,201,180 (GRCm39) |
V422E |
probably damaging |
Het |
| Pear1 |
G |
A |
3: 87,666,449 (GRCm39) |
R85C |
probably damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,309,609 (GRCm39) |
M2780L |
probably benign |
Het |
| Ppp4r4 |
T |
C |
12: 103,550,410 (GRCm39) |
V62A |
possibly damaging |
Het |
| Prol1 |
C |
T |
5: 88,476,125 (GRCm39) |
P172S |
unknown |
Het |
| Proz |
A |
G |
8: 13,122,578 (GRCm39) |
I231V |
probably benign |
Het |
| Ptch1 |
T |
G |
13: 63,675,059 (GRCm39) |
M718L |
probably benign |
Het |
| Ptprs |
A |
G |
17: 56,736,128 (GRCm39) |
C102R |
possibly damaging |
Het |
| Robo2 |
A |
T |
16: 73,770,654 (GRCm39) |
Y490* |
probably null |
Het |
| Rptor |
G |
A |
11: 119,734,539 (GRCm39) |
G514D |
probably damaging |
Het |
| Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
| Skint6 |
T |
A |
4: 112,963,106 (GRCm39) |
S442C |
probably benign |
Het |
| Snw1 |
T |
C |
12: 87,502,485 (GRCm39) |
E303G |
probably benign |
Het |
| Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
| Stam2 |
G |
A |
2: 52,626,305 (GRCm39) |
|
probably benign |
Het |
| Stk10 |
C |
T |
11: 32,554,166 (GRCm39) |
Q618* |
probably null |
Het |
| Tmc3 |
A |
T |
7: 83,271,569 (GRCm39) |
E907V |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,729,451 (GRCm39) |
|
probably benign |
Het |
| Vps39 |
T |
C |
2: 120,183,413 (GRCm39) |
D19G |
probably benign |
Het |
| Zan |
T |
C |
5: 137,470,453 (GRCm39) |
S229G |
probably damaging |
Het |
| Zfp141 |
A |
T |
7: 42,124,983 (GRCm39) |
C496* |
probably null |
Het |
| Zgrf1 |
T |
C |
3: 127,356,768 (GRCm39) |
S665P |
possibly 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 |
|
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'- TGTGTTACAGTTCAGGTCGATCC -3'
(R):5'- CCAGCCGAGATTTGTCTCATTC -3'
Sequencing Primer
(F):5'- AAGTCGAGGTTCTGAGCGC -3'
(R):5'- CGAGATTTGTCTCATTCTGACCAGG -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation