Incidental Mutation 'R4353:B4galnt3'
| ID |
327410 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
B4galnt3
|
| Ensembl Gene |
ENSMUSG00000041372 |
| Gene Name |
beta-1,4-N-acetyl-galactosaminyl transferase 3 |
| Synonyms |
|
| MMRRC Submission |
040866-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R4353 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
120180034-120271520 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120192437 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 433
(E433G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058253
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057283]
[ENSMUST00000212457]
|
| AlphaFold |
Q6L8S8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057283
AA Change: E433G
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000058253
Gene: ENSMUSG00000041372
AA Change: E433G
| 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 |
possibly damaging
Transcript: ENSMUST00000212457
AA Change: E432G
PolyPhen 2
Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| 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 |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Alpk2 |
C |
T |
18: 65,424,523 (GRCm39) |
R1888H |
possibly damaging |
Het |
| Arhgap33 |
C |
A |
7: 30,223,561 (GRCm39) |
V823L |
possibly damaging |
Het |
| Atp2b2 |
T |
C |
6: 113,742,745 (GRCm39) |
I736V |
probably benign |
Het |
| Atp8a1 |
T |
C |
5: 67,926,451 (GRCm39) |
T260A |
probably damaging |
Het |
| Bzw2 |
A |
T |
12: 36,173,978 (GRCm39) |
F99I |
probably damaging |
Het |
| Cdh20 |
A |
G |
1: 104,906,814 (GRCm39) |
D547G |
probably damaging |
Het |
| Col27a1 |
G |
T |
4: 63,143,868 (GRCm39) |
A519S |
probably benign |
Het |
| Coq6 |
G |
A |
12: 84,414,923 (GRCm39) |
G110D |
probably damaging |
Het |
| Cpb1 |
T |
C |
3: 20,316,708 (GRCm39) |
T281A |
probably benign |
Het |
| Cttnbp2 |
T |
C |
6: 18,514,703 (GRCm39) |
D11G |
probably benign |
Het |
| Cyp2c37 |
A |
G |
19: 39,988,989 (GRCm39) |
Y316C |
possibly damaging |
Het |
| Dcdc2a |
T |
A |
13: 25,240,474 (GRCm39) |
I74N |
probably damaging |
Het |
| Dhx9 |
A |
G |
1: 153,347,535 (GRCm39) |
L391P |
probably damaging |
Het |
| Dsc2 |
G |
T |
18: 20,183,125 (GRCm39) |
L98I |
probably damaging |
Het |
| Dthd1 |
T |
A |
5: 63,000,210 (GRCm39) |
S511T |
probably benign |
Het |
| Dusp2 |
A |
G |
2: 127,179,256 (GRCm39) |
T204A |
probably damaging |
Het |
| Elovl5 |
T |
C |
9: 77,868,199 (GRCm39) |
V37A |
probably benign |
Het |
| Etv1 |
A |
G |
12: 38,907,105 (GRCm39) |
E369G |
probably damaging |
Het |
| Gem |
G |
A |
4: 11,705,939 (GRCm39) |
R9H |
probably damaging |
Het |
| Heg1 |
A |
G |
16: 33,530,847 (GRCm39) |
T108A |
probably benign |
Het |
| Inava |
C |
T |
1: 136,153,946 (GRCm39) |
V180I |
probably damaging |
Het |
| Iqgap2 |
C |
T |
13: 95,807,904 (GRCm39) |
V788M |
probably damaging |
Het |
| Kyat3 |
T |
C |
3: 142,437,054 (GRCm39) |
|
probably null |
Het |
| Llgl1 |
C |
T |
11: 60,600,394 (GRCm39) |
P581L |
probably benign |
Het |
| Mecom |
C |
A |
3: 30,020,887 (GRCm39) |
V452L |
possibly damaging |
Het |
| Meis2 |
A |
G |
2: 115,890,044 (GRCm39) |
M146T |
probably damaging |
Het |
| Nrp2 |
A |
G |
1: 62,777,576 (GRCm39) |
D127G |
probably damaging |
Het |
| Nt5el |
T |
C |
13: 105,255,253 (GRCm39) |
Y445H |
probably benign |
Het |
| Nup214 |
T |
C |
2: 31,867,929 (GRCm39) |
|
probably null |
Het |
| Or2h1b |
T |
A |
17: 37,462,228 (GRCm39) |
I58F |
probably damaging |
Het |
| Pabpc4 |
C |
T |
4: 123,184,060 (GRCm39) |
T191I |
probably damaging |
Het |
| Pcnx2 |
T |
C |
8: 126,489,590 (GRCm39) |
H1668R |
probably damaging |
Het |
| Poln |
C |
T |
5: 34,286,796 (GRCm39) |
C124Y |
probably benign |
Het |
| Ppp2r2a |
T |
A |
14: 67,266,386 (GRCm39) |
I92L |
probably damaging |
Het |
| Prb1b |
T |
G |
6: 132,290,624 (GRCm39) |
Y25S |
unknown |
Het |
| Ptch1 |
C |
T |
13: 63,682,143 (GRCm39) |
R537H |
probably damaging |
Het |
| Rnf130 |
T |
C |
11: 49,978,267 (GRCm39) |
V276A |
possibly damaging |
Het |
| Rnf31 |
AAC |
A |
14: 55,838,555 (GRCm39) |
|
probably null |
Het |
| Rnf38 |
A |
T |
4: 44,149,100 (GRCm39) |
N82K |
possibly damaging |
Het |
| Scn7a |
T |
A |
2: 66,506,780 (GRCm39) |
M1370L |
probably benign |
Het |
| Sema4b |
C |
A |
7: 79,865,399 (GRCm39) |
L125I |
probably damaging |
Het |
| Slc12a7 |
C |
T |
13: 73,938,853 (GRCm39) |
T210I |
possibly damaging |
Het |
| Sox8 |
A |
C |
17: 25,786,309 (GRCm39) |
*465G |
probably null |
Het |
| Spg11 |
G |
T |
2: 121,943,675 (GRCm39) |
T159K |
possibly damaging |
Het |
| Stk36 |
A |
G |
1: 74,671,966 (GRCm39) |
R889G |
possibly damaging |
Het |
| Tmbim7 |
A |
G |
5: 3,711,796 (GRCm39) |
S14G |
probably benign |
Het |
| Usp16 |
A |
G |
16: 87,267,242 (GRCm39) |
N211D |
probably damaging |
Het |
| Vmn1r6 |
C |
T |
6: 56,979,677 (GRCm39) |
A113V |
possibly damaging |
Het |
| Zc3h14 |
A |
G |
12: 98,730,219 (GRCm39) |
N92D |
possibly damaging |
Het |
| Zfp638 |
T |
C |
6: 83,961,041 (GRCm39) |
S1206P |
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 |
|
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'- TCTGGATGAGAGGCAGGTTC -3'
(R):5'- GGTAACTGAGGTAGGATAGCTTATC -3'
Sequencing Primer
(F):5'- AGACAAATCTCGGCTGGGCAC -3'
(R):5'- GATAGCTTATCCAGGTCACCC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation