Incidental Mutation 'R0537:B4galt3'
| ID |
49481 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
B4galt3
|
| Ensembl Gene |
ENSMUSG00000052423 |
| Gene Name |
UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 3 |
| Synonyms |
ESTM26, 9530061M23Rik, beta4GalT-III, R74981 |
| MMRRC Submission |
038729-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.454)
|
| Stock # |
R0537 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
171097898-171104468 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 171101821 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141835
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064272]
[ENSMUST00000073120]
[ENSMUST00000111313]
[ENSMUST00000126699]
[ENSMUST00000151863]
[ENSMUST00000192956]
[ENSMUST00000141999]
[ENSMUST00000141114]
|
| AlphaFold |
Q91YY2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064272
|
| SMART Domains |
Protein: ENSMUSP00000066353
Gene: ENSMUSG00000052423
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
61 |
77 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_7N
|
79 |
212 |
1.7e-59 |
PFAM |
|
Pfam:Glyco_transf_7C
|
217 |
294 |
6.3e-32 |
PFAM |
|
low complexity region
|
348 |
364 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073120
|
| SMART Domains |
Protein: ENSMUSP00000072863
Gene: ENSMUSG00000062729
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NAD_binding_8
|
7 |
74 |
1.3e-9 |
PFAM |
|
Pfam:Amino_oxidase
|
12 |
471 |
1.7e-64 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111313
|
| SMART Domains |
Protein: ENSMUSP00000106945
Gene: ENSMUSG00000052423
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
61 |
77 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_7N
|
79 |
214 |
2.1e-74 |
PFAM |
|
Pfam:Glyco_transf_7C
|
217 |
294 |
1.7e-31 |
PFAM |
|
Pfam:Glyco_tranf_2_2
|
238 |
298 |
1e-6 |
PFAM |
|
low complexity region
|
348 |
364 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123954
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125939
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126699
|
| SMART Domains |
Protein: ENSMUSP00000141958
Gene: ENSMUSG00000052423
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_7C
|
1 |
72 |
3.2e-28 |
PFAM |
|
Pfam:Glyco_tranf_2_2
|
16 |
76 |
2.1e-5 |
PFAM |
|
low complexity region
|
126 |
142 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126765
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151863
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129985
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138904
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132890
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152689
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155083
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192956
|
| SMART Domains |
Protein: ENSMUSP00000141835
Gene: ENSMUSG00000062729
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NAD_binding_8
|
7 |
72 |
1.6e-7 |
PFAM |
|
Pfam:Amino_oxidase
|
12 |
389 |
4.7e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141999
|
| SMART Domains |
Protein: ENSMUSP00000114926
Gene: ENSMUSG00000052423
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
34 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141114
|
| SMART Domains |
Protein: ENSMUSP00000114560
Gene: ENSMUSG00000052423
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
86 |
102 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_7N
|
104 |
139 |
2.6e-10 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.9%
|
| Validation Efficiency |
100% (53/53) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. This gene encodes an enzyme that may be mainly involved in the synthesis of the first N-acetyllactosamine unit of poly-N-acetyllactosamine chains. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
A |
T |
14: 35,818,657 (GRCm39) |
K218N |
probably benign |
Het |
| Acot11 |
T |
C |
4: 106,619,652 (GRCm39) |
E156G |
probably benign |
Het |
| Arhgef28 |
A |
T |
13: 98,094,224 (GRCm39) |
N973K |
probably damaging |
Het |
| Bmpr1a |
T |
C |
14: 34,165,769 (GRCm39) |
|
probably benign |
Het |
| Camkmt |
A |
T |
17: 85,702,087 (GRCm39) |
I184F |
probably benign |
Het |
| Ccdc33 |
T |
C |
9: 58,024,737 (GRCm39) |
Y163C |
probably damaging |
Het |
| Ccdc9 |
A |
G |
7: 16,014,701 (GRCm39) |
|
probably benign |
Het |
| Dars2 |
A |
T |
1: 160,888,318 (GRCm39) |
C201S |
possibly damaging |
Het |
| Dnajc1 |
A |
T |
2: 18,312,767 (GRCm39) |
S194R |
possibly damaging |
Het |
| Dock8 |
A |
G |
19: 25,148,941 (GRCm39) |
D1473G |
probably benign |
Het |
| Dpm2 |
T |
A |
2: 32,462,961 (GRCm39) |
|
probably null |
Het |
| Dsg4 |
T |
C |
18: 20,591,628 (GRCm39) |
S456P |
probably damaging |
Het |
| Gys1 |
T |
C |
7: 45,089,425 (GRCm39) |
S195P |
probably damaging |
Het |
| Heatr6 |
G |
T |
11: 83,670,290 (GRCm39) |
E948* |
probably null |
Het |
| Itgal |
G |
A |
7: 126,910,445 (GRCm39) |
R518Q |
possibly damaging |
Het |
| Klhdc8b |
G |
C |
9: 108,326,422 (GRCm39) |
R158G |
possibly damaging |
Het |
| Klhl41 |
G |
A |
2: 69,500,554 (GRCm39) |
R5Q |
probably benign |
Het |
| Lrrtm4 |
A |
T |
6: 79,999,103 (GRCm39) |
T172S |
probably benign |
Het |
| Lypd1 |
A |
G |
1: 125,840,604 (GRCm39) |
|
probably benign |
Het |
| Mei1 |
T |
C |
15: 81,975,562 (GRCm39) |
F121S |
possibly damaging |
Het |
| Mtor |
C |
T |
4: 148,622,817 (GRCm39) |
R1966W |
probably damaging |
Het |
| Myh7 |
A |
G |
14: 55,228,256 (GRCm39) |
F247L |
possibly damaging |
Het |
| Nebl |
G |
T |
2: 17,409,026 (GRCm39) |
D392E |
possibly damaging |
Het |
| Notch2 |
C |
A |
3: 98,024,057 (GRCm39) |
N840K |
possibly damaging |
Het |
| Nubp1 |
T |
C |
16: 10,240,678 (GRCm39) |
|
probably benign |
Het |
| Or5w16 |
A |
T |
2: 87,577,017 (GRCm39) |
Q159L |
probably benign |
Het |
| Or7g19 |
T |
C |
9: 18,856,444 (GRCm39) |
S167P |
probably damaging |
Het |
| Pcdh17 |
T |
A |
14: 84,684,897 (GRCm39) |
S455T |
probably damaging |
Het |
| Picalm |
C |
A |
7: 89,779,876 (GRCm39) |
H32Q |
probably benign |
Het |
| Pold1 |
T |
C |
7: 44,184,516 (GRCm39) |
E828G |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rala |
A |
T |
13: 18,063,233 (GRCm39) |
N119K |
probably benign |
Het |
| Rasal2 |
A |
T |
1: 156,975,362 (GRCm39) |
V1149E |
possibly damaging |
Het |
| Rd3 |
A |
G |
1: 191,715,501 (GRCm39) |
Y92C |
probably damaging |
Het |
| Rps18-ps6 |
A |
T |
13: 97,897,071 (GRCm39) |
F9Y |
probably benign |
Het |
| Sart1 |
A |
T |
19: 5,431,752 (GRCm39) |
D635E |
probably damaging |
Het |
| Sec16b |
A |
G |
1: 157,365,116 (GRCm39) |
T335A |
possibly damaging |
Het |
| Slc11a2 |
C |
T |
15: 100,303,679 (GRCm39) |
G185R |
probably damaging |
Het |
| Slc2a12 |
G |
A |
10: 22,540,967 (GRCm39) |
R274H |
probably damaging |
Het |
| Spag17 |
T |
C |
3: 100,032,618 (GRCm39) |
V2276A |
probably damaging |
Het |
| Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
| Tenm2 |
T |
C |
11: 36,054,557 (GRCm39) |
D601G |
probably damaging |
Het |
| Tmem168 |
C |
A |
6: 13,603,360 (GRCm39) |
C2F |
probably damaging |
Het |
| Tmem80 |
A |
G |
7: 140,913,609 (GRCm39) |
Y13C |
probably damaging |
Het |
| Try4 |
T |
A |
6: 41,281,296 (GRCm39) |
N79K |
probably benign |
Het |
| Vldlr |
C |
A |
19: 27,225,318 (GRCm39) |
N798K |
probably damaging |
Het |
| Wdr41 |
A |
G |
13: 95,131,813 (GRCm39) |
|
probably benign |
Het |
| Zfp30 |
A |
T |
7: 29,492,160 (GRCm39) |
E138V |
probably damaging |
Het |
| Zfp366 |
A |
C |
13: 99,365,786 (GRCm39) |
T316P |
probably damaging |
Het |
| Zfp563 |
A |
T |
17: 33,323,659 (GRCm39) |
S85C |
possibly damaging |
Het |
| Znfx1 |
T |
C |
2: 166,883,621 (GRCm39) |
H162R |
probably damaging |
Het |
|
| Other mutations in B4galt3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02019:B4galt3
|
APN |
1 |
171,099,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB004:B4galt3
|
UTSW |
1 |
171,099,342 (GRCm39) |
nonsense |
probably null |
|
|
BB014:B4galt3
|
UTSW |
1 |
171,099,342 (GRCm39) |
nonsense |
probably null |
|
|
R0026:B4galt3
|
UTSW |
1 |
171,101,831 (GRCm39) |
unclassified |
probably benign |
|
|
R0126:B4galt3
|
UTSW |
1 |
171,103,738 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1478:B4galt3
|
UTSW |
1 |
171,103,938 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2012:B4galt3
|
UTSW |
1 |
171,100,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2206:B4galt3
|
UTSW |
1 |
171,101,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2207:B4galt3
|
UTSW |
1 |
171,101,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2223:B4galt3
|
UTSW |
1 |
171,101,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2353:B4galt3
|
UTSW |
1 |
171,101,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2354:B4galt3
|
UTSW |
1 |
171,101,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2438:B4galt3
|
UTSW |
1 |
171,101,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2439:B4galt3
|
UTSW |
1 |
171,101,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3039:B4galt3
|
UTSW |
1 |
171,101,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3051:B4galt3
|
UTSW |
1 |
171,101,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3709:B4galt3
|
UTSW |
1 |
171,101,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3710:B4galt3
|
UTSW |
1 |
171,101,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3741:B4galt3
|
UTSW |
1 |
171,101,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3742:B4galt3
|
UTSW |
1 |
171,101,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3813:B4galt3
|
UTSW |
1 |
171,101,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3953:B4galt3
|
UTSW |
1 |
171,101,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4058:B4galt3
|
UTSW |
1 |
171,101,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4059:B4galt3
|
UTSW |
1 |
171,101,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4323:B4galt3
|
UTSW |
1 |
171,103,515 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4367:B4galt3
|
UTSW |
1 |
171,101,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4368:B4galt3
|
UTSW |
1 |
171,101,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4370:B4galt3
|
UTSW |
1 |
171,101,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4371:B4galt3
|
UTSW |
1 |
171,101,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4486:B4galt3
|
UTSW |
1 |
171,099,343 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4538:B4galt3
|
UTSW |
1 |
171,100,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5557:B4galt3
|
UTSW |
1 |
171,100,089 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7313:B4galt3
|
UTSW |
1 |
171,100,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7927:B4galt3
|
UTSW |
1 |
171,099,342 (GRCm39) |
nonsense |
probably null |
|
|
R8222:B4galt3
|
UTSW |
1 |
171,100,253 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8552:B4galt3
|
UTSW |
1 |
171,101,917 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8804:B4galt3
|
UTSW |
1 |
171,103,947 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8859:B4galt3
|
UTSW |
1 |
171,099,241 (GRCm39) |
missense |
unknown |
|
|
R9150:B4galt3
|
UTSW |
1 |
171,103,899 (GRCm39) |
missense |
probably benign |
|
|
R9265:B4galt3
|
UTSW |
1 |
171,101,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGAAGCCCTTCGTGATGAAGAATG -3'
(R):5'- GAGATGTGGCAAGAAGTCTGACCTG -3'
Sequencing Primer
(F):5'- GTTCTTACACGACGTGGACC -3'
(R):5'- AAGTCTGACCTGGTAGCAATGTC -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation