Incidental Mutation 'R1580:B3galnt1'
| ID |
171336 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
B3galnt1
|
| Ensembl Gene |
ENSMUSG00000043300 |
| Gene Name |
UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 1 |
| Synonyms |
Mbrn 1, Globoside blood group, B3galt3, Brainiac 1 |
| MMRRC Submission |
039617-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.132)
|
| Stock # |
R1580 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
69481491-69506293 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 69483040 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 74
(S74P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058363
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061826]
|
| AlphaFold |
Q920V1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061826
AA Change: S74P
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000058363
Gene: ENSMUSG00000043300
AA Change: S74P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
Pfam:Galactosyl_T
|
92 |
285 |
4.5e-68 |
PFAM |
|
| Meta Mutation Damage Score |
0.0825 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.4%
- 20x: 89.8%
|
| Validation Efficiency |
96% (43/45) |
| 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). The encoded protein of this gene does not use N-acetylglucosamine as an acceptor sugar at all. [provided by RefSeq, Mar 2017]
PHENOTYPE: A homozygous null mutation of this gene results in embryonic lethality. Mice homozygous for a second allele appear normal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
C |
T |
1: 71,305,124 (GRCm39) |
V2044I |
possibly damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,614,279 (GRCm39) |
|
probably null |
Het |
| Arhgef38 |
T |
C |
3: 132,839,465 (GRCm39) |
Q526R |
probably benign |
Het |
| Atp2c2 |
A |
G |
8: 120,479,726 (GRCm39) |
N752D |
probably benign |
Het |
| Atp6v0a1 |
T |
C |
11: 100,920,030 (GRCm39) |
I221T |
probably damaging |
Het |
| Atp8b5 |
T |
C |
4: 43,355,673 (GRCm39) |
V551A |
possibly damaging |
Het |
| Bcl2l13 |
A |
G |
6: 120,842,675 (GRCm39) |
I123V |
probably benign |
Het |
| Brms1l |
A |
T |
12: 55,915,007 (GRCm39) |
K305N |
probably damaging |
Het |
| Ccdc82 |
C |
T |
9: 13,252,385 (GRCm39) |
R226C |
probably damaging |
Het |
| Chst9 |
T |
G |
18: 15,586,122 (GRCm39) |
K147T |
probably benign |
Het |
| Clec16a |
A |
G |
16: 10,413,762 (GRCm39) |
R390G |
probably damaging |
Het |
| Clec5a |
G |
T |
6: 40,562,153 (GRCm39) |
H4N |
probably benign |
Het |
| Csmd1 |
T |
A |
8: 15,975,299 (GRCm39) |
Q2970L |
probably damaging |
Het |
| Cyp2a4 |
T |
C |
7: 26,007,076 (GRCm39) |
I61T |
possibly damaging |
Het |
| Cyp3a16 |
T |
A |
5: 145,378,884 (GRCm39) |
K379I |
possibly damaging |
Het |
| Cyp3a16 |
T |
C |
5: 145,378,885 (GRCm39) |
K379E |
probably damaging |
Het |
| Dok2 |
A |
G |
14: 71,014,397 (GRCm39) |
D195G |
probably benign |
Het |
| Emilin1 |
A |
G |
5: 31,074,764 (GRCm39) |
E335G |
probably damaging |
Het |
| Gm7361 |
G |
T |
5: 26,462,768 (GRCm39) |
L3F |
probably damaging |
Het |
| Haus1 |
T |
C |
18: 77,854,620 (GRCm39) |
D50G |
probably damaging |
Het |
| Igf1r |
T |
C |
7: 67,857,617 (GRCm39) |
V1099A |
probably benign |
Het |
| Kif15 |
T |
C |
9: 122,789,021 (GRCm39) |
V71A |
probably benign |
Het |
| Klk10 |
C |
T |
7: 43,432,286 (GRCm39) |
A73V |
probably damaging |
Het |
| Lins1 |
C |
A |
7: 66,364,239 (GRCm39) |
D711E |
probably benign |
Het |
| Mbtps1 |
C |
T |
8: 120,265,639 (GRCm39) |
V303I |
possibly damaging |
Het |
| Mest |
G |
A |
6: 30,745,822 (GRCm39) |
|
probably benign |
Het |
| Nup214 |
C |
T |
2: 31,924,478 (GRCm39) |
S1669F |
probably damaging |
Het |
| Or14c43 |
A |
G |
7: 86,114,658 (GRCm39) |
E13G |
probably benign |
Het |
| Or6c210 |
G |
T |
10: 129,496,184 (GRCm39) |
V170F |
probably benign |
Het |
| Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
| Rtf2 |
A |
G |
2: 172,287,285 (GRCm39) |
D68G |
probably damaging |
Het |
| Sbspon |
C |
A |
1: 15,962,692 (GRCm39) |
C62F |
probably damaging |
Het |
| Spata31f3 |
T |
C |
4: 42,874,020 (GRCm39) |
|
probably null |
Het |
| Spg7 |
T |
A |
8: 123,816,977 (GRCm39) |
|
probably benign |
Het |
| Trabd2b |
T |
C |
4: 114,437,531 (GRCm39) |
V236A |
possibly damaging |
Het |
| Vmn2r10 |
A |
T |
5: 109,154,117 (GRCm39) |
N62K |
possibly damaging |
Het |
| Vmn2r45 |
T |
G |
7: 8,474,746 (GRCm39) |
S761R |
possibly damaging |
Het |
| Zfp580 |
C |
T |
7: 5,056,284 (GRCm39) |
R215C |
probably damaging |
Het |
| Zfpm2 |
A |
G |
15: 40,966,605 (GRCm39) |
D898G |
possibly damaging |
Het |
|
| Other mutations in B3galnt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0101:B3galnt1
|
UTSW |
3 |
69,483,139 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0230:B3galnt1
|
UTSW |
3 |
69,482,673 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1628:B3galnt1
|
UTSW |
3 |
69,482,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1942:B3galnt1
|
UTSW |
3 |
69,483,258 (GRCm39) |
start codon destroyed |
probably null |
0.90 |
|
R5137:B3galnt1
|
UTSW |
3 |
69,482,282 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6418:B3galnt1
|
UTSW |
3 |
69,482,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6468:B3galnt1
|
UTSW |
3 |
69,482,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6473:B3galnt1
|
UTSW |
3 |
69,482,673 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7236:B3galnt1
|
UTSW |
3 |
69,482,950 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7363:B3galnt1
|
UTSW |
3 |
69,483,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7501:B3galnt1
|
UTSW |
3 |
69,482,632 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7819:B3galnt1
|
UTSW |
3 |
69,483,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7911:B3galnt1
|
UTSW |
3 |
69,482,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7999:B3galnt1
|
UTSW |
3 |
69,482,548 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8954:B3galnt1
|
UTSW |
3 |
69,482,673 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8964:B3galnt1
|
UTSW |
3 |
69,482,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATCCTCCAAGGACAGGGCTAAC -3'
(R):5'- CCTGTAGAACCTGTGCCTTCTGAAC -3'
Sequencing Primer
(F):5'- ACAGGGCTAACGTTTTGTCTTC -3'
(R):5'- GGATGTCACTGAGATCCCTCAAG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation