Incidental Mutation 'R1412:B3galt4'
| ID |
159653 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
B3galt4
|
| Ensembl Gene |
ENSMUSG00000067370 |
| Gene Name |
UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4 |
| Synonyms |
Gal-T2 |
| MMRRC Submission |
039468-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.201)
|
| Stock # |
R1412 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34168886-34170462 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 34169813 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 142
(R142C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084823
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008812]
[ENSMUST00000025170]
[ENSMUST00000025178]
[ENSMUST00000087543]
[ENSMUST00000174609]
|
| AlphaFold |
Q9Z0F0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000008812
|
| SMART Domains |
Protein: ENSMUSP00000008812
Gene: ENSMUSG00000008668
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_S13
|
14 |
142 |
2.2e-59 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025170
|
| SMART Domains |
Protein: ENSMUSP00000025170
Gene: ENSMUSG00000024312
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
126 |
155 |
N/A |
INTRINSIC |
|
low complexity region
|
204 |
217 |
N/A |
INTRINSIC |
|
WD40
|
225 |
262 |
1.02e2 |
SMART |
|
WD40
|
267 |
302 |
3.3e1 |
SMART |
|
Blast:WD40
|
305 |
344 |
8e-19 |
BLAST |
|
WD40
|
347 |
386 |
9.52e-6 |
SMART |
|
Blast:WD40
|
392 |
426 |
3e-14 |
BLAST |
|
BING4CT
|
439 |
517 |
8.85e-53 |
SMART |
|
low complexity region
|
542 |
556 |
N/A |
INTRINSIC |
|
low complexity region
|
586 |
593 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025178
|
| SMART Domains |
Protein: ENSMUSP00000025178
Gene: ENSMUSG00000024319
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
11 |
N/A |
INTRINSIC |
|
low complexity region
|
24 |
45 |
N/A |
INTRINSIC |
|
Pfam:Sec3_C
|
79 |
244 |
4.6e-13 |
PFAM |
|
Pfam:Vps52
|
94 |
601 |
5.1e-233 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000087543
AA Change: R142C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000084823
Gene: ENSMUSG00000067370
AA Change: R142C
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
24 |
N/A |
INTRINSIC |
|
Pfam:Galactosyl_T
|
85 |
302 |
1.3e-66 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172550
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172799
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173323
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174620
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174662
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174758
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174745
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174175
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174609
|
| SMART Domains |
Protein: ENSMUSP00000138296
Gene: ENSMUSG00000008668
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_S13
|
14 |
107 |
2.1e-21 |
PFAM |
|
| Meta Mutation Damage Score |
0.4813 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.4%
- 20x: 86.5%
|
| Validation Efficiency |
98% (48/49) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene is oriented telomere to centromere in close proximity to the ribosomal protein S18 gene. The functionality of the encoded protein is limited to ganglioseries glycolipid biosynthesis. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810009A15Rik |
T |
C |
19: 8,867,359 (GRCm39) |
|
probably benign |
Het |
| Abca15 |
C |
T |
7: 119,944,546 (GRCm39) |
R394C |
possibly damaging |
Het |
| Adamts9 |
T |
C |
6: 92,773,414 (GRCm39) |
Q1152R |
probably benign |
Het |
| Adgrv1 |
C |
T |
13: 81,243,569 (GRCm39) |
G6277E |
probably damaging |
Het |
| Agbl2 |
A |
G |
2: 90,619,298 (GRCm39) |
N41S |
probably benign |
Het |
| Akap7 |
A |
T |
10: 25,165,495 (GRCm39) |
|
probably null |
Het |
| Arl6ip1 |
A |
G |
7: 117,719,591 (GRCm39) |
I179T |
possibly damaging |
Het |
| Atp1a4 |
C |
T |
1: 172,059,576 (GRCm39) |
D839N |
probably damaging |
Het |
| C1qtnf12 |
T |
C |
4: 156,047,190 (GRCm39) |
V52A |
probably benign |
Het |
| C1qtnf2 |
A |
G |
11: 43,381,959 (GRCm39) |
Y257C |
probably damaging |
Het |
| Cdc123 |
A |
T |
2: 5,808,776 (GRCm39) |
D233E |
possibly damaging |
Het |
| Chdh |
G |
A |
14: 29,756,680 (GRCm39) |
E369K |
probably benign |
Het |
| D630045J12Rik |
A |
G |
6: 38,172,695 (GRCm39) |
V491A |
probably benign |
Het |
| Focad |
T |
C |
4: 88,196,498 (GRCm39) |
|
probably null |
Het |
| Gabbr1 |
T |
C |
17: 37,365,805 (GRCm39) |
|
probably null |
Het |
| Hat1 |
G |
T |
2: 71,250,961 (GRCm39) |
E170* |
probably null |
Het |
| Hs3st5 |
A |
T |
10: 36,708,672 (GRCm39) |
H69L |
probably benign |
Het |
| Igsf10 |
T |
C |
3: 59,235,196 (GRCm39) |
|
probably benign |
Het |
| Itga2b |
A |
T |
11: 102,347,831 (GRCm39) |
L890Q |
probably benign |
Het |
| Or52e8b |
A |
G |
7: 104,673,402 (GRCm39) |
F262L |
probably damaging |
Het |
| Or7d11 |
C |
G |
9: 19,966,711 (GRCm39) |
G16A |
possibly damaging |
Het |
| Parp10 |
A |
G |
15: 76,127,284 (GRCm39) |
L51P |
probably damaging |
Het |
| Pbld2 |
A |
G |
10: 62,883,301 (GRCm39) |
T108A |
probably damaging |
Het |
| Pdlim2 |
A |
T |
14: 70,411,773 (GRCm39) |
|
probably benign |
Het |
| Pikfyve |
T |
C |
1: 65,241,989 (GRCm39) |
V243A |
possibly damaging |
Het |
| Pla2g12b |
G |
A |
10: 59,239,804 (GRCm39) |
|
probably null |
Het |
| Raly |
A |
G |
2: 154,699,315 (GRCm39) |
T40A |
possibly damaging |
Het |
| Rasgrp3 |
G |
T |
17: 75,816,822 (GRCm39) |
|
probably null |
Het |
| Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
| Smim22 |
G |
C |
16: 4,825,649 (GRCm39) |
E11D |
possibly damaging |
Het |
| Socs2 |
T |
C |
10: 95,250,780 (GRCm39) |
S18G |
probably benign |
Het |
| Srgap2 |
T |
C |
1: 131,228,151 (GRCm39) |
E720G |
possibly damaging |
Het |
| Tas2r135 |
A |
G |
6: 42,382,768 (GRCm39) |
I102M |
probably benign |
Het |
| Tex19.2 |
A |
G |
11: 121,007,761 (GRCm39) |
V229A |
possibly damaging |
Het |
| Vmn1r234 |
T |
A |
17: 21,449,512 (GRCm39) |
I142N |
probably benign |
Het |
| Vps35l |
A |
T |
7: 118,409,194 (GRCm39) |
I612F |
probably damaging |
Het |
| Vwa3a |
C |
T |
7: 120,379,377 (GRCm39) |
T494I |
probably damaging |
Het |
| Vwa8 |
C |
T |
14: 79,145,670 (GRCm39) |
R116C |
probably damaging |
Het |
| Zfhx3 |
A |
G |
8: 109,641,199 (GRCm39) |
D1166G |
possibly damaging |
Het |
|
| Other mutations in B3galt4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01545:B3galt4
|
APN |
17 |
34,170,187 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL02216:B3galt4
|
APN |
17 |
34,169,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
beacon
|
UTSW |
17 |
34,169,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
beguiling
|
UTSW |
17 |
34,169,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0326:B3galt4
|
UTSW |
17 |
34,169,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0419:B3galt4
|
UTSW |
17 |
34,169,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0446:B3galt4
|
UTSW |
17 |
34,169,992 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1024:B3galt4
|
UTSW |
17 |
34,169,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1028:B3galt4
|
UTSW |
17 |
34,169,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1590:B3galt4
|
UTSW |
17 |
34,169,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1591:B3galt4
|
UTSW |
17 |
34,169,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1681:B3galt4
|
UTSW |
17 |
34,170,187 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1851:B3galt4
|
UTSW |
17 |
34,169,885 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1955:B3galt4
|
UTSW |
17 |
34,169,606 (GRCm39) |
nonsense |
probably null |
|
|
R2103:B3galt4
|
UTSW |
17 |
34,169,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5802:B3galt4
|
UTSW |
17 |
34,169,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6922:B3galt4
|
UTSW |
17 |
34,169,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7644:B3galt4
|
UTSW |
17 |
34,169,419 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8073:B3galt4
|
UTSW |
17 |
34,169,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8687:B3galt4
|
UTSW |
17 |
34,169,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8839:B3galt4
|
UTSW |
17 |
34,169,867 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9200:B3galt4
|
UTSW |
17 |
34,170,384 (GRCm39) |
unclassified |
probably benign |
|
|
Z1177:B3galt4
|
UTSW |
17 |
34,170,110 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGCCTAAATACAGAAGGGGCAC -3'
(R):5'- AGAGAAACGCCATTCGGGCATC -3'
Sequencing Primer
(F):5'- AGAAGGGGCACTGCCTG -3'
(R):5'- TCTTGGGGTGCCATCCG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation