Incidental Mutation 'R0026:B4galt3'
ID |
18680 |
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 |
038321-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.454)
|
Stock # |
R0026 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
171097898-171104468 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
C to T
at 171101831 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]
[ENSMUST00000141114]
[ENSMUST00000141999]
[ENSMUST00000192956]
|
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 |
noncoding transcript
Transcript: ENSMUST00000129985
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151863
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138904
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155083
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132890
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152689
|
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 |
|
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: 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 |
|
Coding Region Coverage |
- 1x: 78.7%
- 3x: 68.7%
- 10x: 42.4%
- 20x: 22.6%
|
Validation Efficiency |
96% (75/78) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
C |
T |
7: 120,077,146 (GRCm39) |
|
probably benign |
Het |
Acot10 |
G |
A |
15: 20,666,322 (GRCm39) |
L140F |
probably benign |
Het |
Asph |
A |
C |
4: 9,601,361 (GRCm39) |
S129A |
probably damaging |
Het |
Atrn |
T |
C |
2: 130,799,840 (GRCm39) |
Y406H |
probably damaging |
Het |
BC016579 |
T |
C |
16: 45,460,730 (GRCm39) |
T113A |
probably benign |
Het |
Bmpr1b |
A |
G |
3: 141,576,494 (GRCm39) |
L113P |
probably benign |
Het |
Casq1 |
T |
C |
1: 172,046,967 (GRCm39) |
|
probably benign |
Het |
Ccdc187 |
T |
C |
2: 26,171,365 (GRCm39) |
D371G |
probably benign |
Het |
Clstn1 |
G |
A |
4: 149,719,253 (GRCm39) |
V361M |
probably damaging |
Het |
Cyp4b1 |
C |
T |
4: 115,504,718 (GRCm39) |
G56D |
possibly damaging |
Het |
Dock5 |
C |
A |
14: 68,083,530 (GRCm39) |
E126D |
probably benign |
Het |
Exph5 |
A |
T |
9: 53,287,779 (GRCm39) |
D1620V |
probably benign |
Het |
Fancd2os |
G |
T |
6: 113,574,652 (GRCm39) |
T118N |
probably damaging |
Het |
Fli1 |
A |
G |
9: 32,387,880 (GRCm39) |
Y37H |
probably damaging |
Het |
Gm17521 |
G |
A |
X: 121,939,239 (GRCm39) |
S43L |
probably benign |
Het |
Gnb3 |
A |
G |
6: 124,814,380 (GRCm39) |
V135A |
probably benign |
Het |
Ibtk |
A |
G |
9: 85,572,356 (GRCm39) |
V1278A |
probably benign |
Het |
Ighv1-58 |
G |
A |
12: 115,275,907 (GRCm39) |
T77I |
probably benign |
Het |
Lgsn |
T |
A |
1: 31,242,524 (GRCm39) |
V202D |
probably damaging |
Het |
Madd |
A |
G |
2: 91,006,053 (GRCm39) |
F381L |
possibly damaging |
Het |
Ntf3 |
T |
A |
6: 126,078,768 (GRCm39) |
N246I |
probably damaging |
Het |
Pds5b |
G |
A |
5: 150,673,295 (GRCm39) |
|
probably benign |
Het |
Ppp3cb |
C |
T |
14: 20,581,836 (GRCm39) |
V60I |
probably benign |
Het |
Prc1 |
T |
C |
7: 79,960,809 (GRCm39) |
|
probably benign |
Het |
Prpf31 |
T |
A |
7: 3,642,667 (GRCm39) |
N413K |
probably benign |
Het |
Rapgef5 |
T |
C |
12: 117,652,896 (GRCm39) |
S307P |
probably benign |
Het |
Rbfox2 |
T |
C |
15: 76,968,357 (GRCm39) |
T435A |
possibly damaging |
Het |
Senp1 |
T |
C |
15: 97,974,549 (GRCm39) |
R88G |
probably damaging |
Het |
Slc35b1 |
T |
C |
11: 95,281,468 (GRCm39) |
S294P |
probably benign |
Het |
Slc44a5 |
G |
A |
3: 153,945,907 (GRCm39) |
|
probably benign |
Het |
Spata31e2 |
T |
A |
1: 26,722,450 (GRCm39) |
D910V |
probably benign |
Het |
Taf1d |
T |
A |
9: 15,219,944 (GRCm39) |
S64R |
probably damaging |
Het |
Trim6 |
T |
A |
7: 103,875,016 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
C |
2: 76,599,534 (GRCm39) |
T19186A |
probably damaging |
Het |
Uchl4 |
A |
T |
9: 64,142,653 (GRCm39) |
|
probably null |
Het |
Usp32 |
T |
C |
11: 84,922,900 (GRCm39) |
S673G |
possibly damaging |
Het |
Utrn |
T |
C |
10: 12,601,940 (GRCm39) |
|
probably benign |
Het |
Vps13b |
T |
C |
15: 35,923,447 (GRCm39) |
I3774T |
possibly damaging |
Het |
Vwa3a |
A |
G |
7: 120,379,434 (GRCm39) |
Q513R |
probably damaging |
Het |
Yipf1 |
T |
A |
4: 107,202,357 (GRCm39) |
L240* |
probably null |
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 |
|
R0126:B4galt3
|
UTSW |
1 |
171,103,738 (GRCm39) |
missense |
probably damaging |
0.97 |
R0537:B4galt3
|
UTSW |
1 |
171,101,821 (GRCm39) |
unclassified |
probably benign |
|
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 |
|
Posted On |
2013-03-25 |