Incidental Mutation 'R4987:B3gnt5'
| ID |
385928 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
B3gnt5
|
| Ensembl Gene |
ENSMUSG00000022686 |
| Gene Name |
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 |
| Synonyms |
|
| MMRRC Submission |
042581-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.594)
|
| Stock # |
R4987 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
19578958-19591503 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 19587952 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 57
(N57I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126157
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079780]
[ENSMUST00000119468]
[ENSMUST00000121344]
[ENSMUST00000164397]
|
| AlphaFold |
Q8BGY6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079780
AA Change: N57I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000078712
Gene: ENSMUSG00000022686
AA Change: N57I
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
34 |
N/A |
INTRINSIC |
|
Pfam:Galactosyl_T
|
100 |
299 |
2e-49 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119468
AA Change: N57I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113145
Gene: ENSMUSG00000022686
AA Change: N57I
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
34 |
N/A |
INTRINSIC |
|
Pfam:Galactosyl_T
|
100 |
299 |
2e-49 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121344
AA Change: N57I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112624
Gene: ENSMUSG00000022686
AA Change: N57I
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
34 |
N/A |
INTRINSIC |
|
Pfam:Galactosyl_T
|
100 |
299 |
2e-49 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131557
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152845
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155780
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164397
AA Change: N57I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126157
Gene: ENSMUSG00000022686
AA Change: N57I
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
34 |
N/A |
INTRINSIC |
|
Pfam:Galactosyl_T
|
100 |
299 |
2e-49 |
PFAM |
|
| Meta Mutation Damage Score |
0.6858 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.3%
|
| Validation Efficiency |
98% (44/45) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II membrane protein. It exhibits strong activity to transfer GlcNAc to glycolipid substrates and is identified as the most likely candidate for lactotriaosylceramide synthase. This enzyme is essential for the expression of Lewis X epitopes on glycolipids. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice may show variable types of lethality or no lethality depending on the allele. Mice homozygous for 3 alleles show B cell abnormalities. Mice homozygous or heterozygous for 2 allele show reduced fertility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acrbp |
T |
C |
6: 125,030,725 (GRCm39) |
S249P |
probably benign |
Het |
| Adcy4 |
A |
G |
14: 56,010,934 (GRCm39) |
V661A |
probably benign |
Het |
| Ahdc1 |
T |
G |
4: 132,791,631 (GRCm39) |
H957Q |
possibly damaging |
Het |
| Atp10b |
A |
G |
11: 43,042,440 (GRCm39) |
|
probably benign |
Het |
| Brms1l |
T |
A |
12: 55,912,800 (GRCm39) |
D264E |
probably benign |
Het |
| Camk1g |
T |
A |
1: 193,030,783 (GRCm39) |
N309Y |
probably damaging |
Het |
| Chl1 |
A |
G |
6: 103,651,938 (GRCm39) |
T285A |
probably damaging |
Het |
| Cspg4b |
T |
C |
13: 113,454,635 (GRCm39) |
V227A |
probably benign |
Het |
| Dennd1c |
G |
T |
17: 57,380,852 (GRCm39) |
T200K |
probably damaging |
Het |
| Dpysl3 |
C |
A |
18: 43,461,492 (GRCm39) |
M566I |
probably benign |
Het |
| Dscam |
A |
T |
16: 96,498,721 (GRCm39) |
D985E |
probably benign |
Het |
| Fmo5 |
T |
C |
3: 97,542,894 (GRCm39) |
M68T |
probably benign |
Het |
| Gm26996 |
A |
G |
6: 130,567,959 (GRCm39) |
|
unknown |
Het |
| Gm9991 |
A |
T |
1: 90,603,138 (GRCm39) |
|
noncoding transcript |
Het |
| Gzmc |
T |
A |
14: 56,468,997 (GRCm39) |
I241L |
probably damaging |
Het |
| Hibadh |
A |
T |
6: 52,599,880 (GRCm39) |
S105R |
probably damaging |
Het |
| Krt87 |
A |
G |
15: 101,384,890 (GRCm39) |
I402T |
probably benign |
Het |
| Krtap31-2 |
A |
G |
11: 99,827,396 (GRCm39) |
D76G |
possibly damaging |
Het |
| Lin9 |
A |
G |
1: 180,496,329 (GRCm39) |
S249G |
probably damaging |
Het |
| Lpcat1 |
T |
A |
13: 73,637,222 (GRCm39) |
|
probably null |
Het |
| Mfap4 |
A |
G |
11: 61,376,908 (GRCm39) |
I46V |
probably benign |
Het |
| Nos1 |
T |
C |
5: 118,064,598 (GRCm39) |
|
probably null |
Het |
| Nostrin |
A |
G |
2: 68,986,775 (GRCm39) |
M107V |
probably benign |
Het |
| Nutm2 |
C |
T |
13: 50,626,379 (GRCm39) |
T322I |
possibly damaging |
Het |
| Or8k33 |
A |
C |
2: 86,383,579 (GRCm39) |
D296E |
probably null |
Het |
| Pcdha12 |
T |
A |
18: 37,154,604 (GRCm39) |
V441E |
probably damaging |
Het |
| Plcd4 |
A |
G |
1: 74,587,118 (GRCm39) |
|
probably benign |
Het |
| Plscr1l1 |
T |
C |
9: 92,236,637 (GRCm39) |
S175P |
probably damaging |
Het |
| Ppme1 |
T |
C |
7: 99,994,278 (GRCm39) |
D145G |
probably benign |
Het |
| Rbm25 |
T |
C |
12: 83,724,630 (GRCm39) |
V793A |
probably damaging |
Het |
| Rlbp1 |
A |
T |
7: 79,029,879 (GRCm39) |
V118E |
probably damaging |
Het |
| Serinc2 |
C |
T |
4: 130,156,820 (GRCm39) |
|
probably null |
Het |
| Slc25a32 |
A |
G |
15: 38,963,414 (GRCm39) |
C136R |
possibly damaging |
Het |
| Smco2 |
A |
G |
6: 146,757,590 (GRCm39) |
D48G |
possibly damaging |
Het |
| Trpv4 |
T |
C |
5: 114,760,793 (GRCm39) |
D846G |
probably benign |
Het |
| Ubr1 |
A |
T |
2: 120,794,047 (GRCm39) |
L46I |
probably benign |
Het |
| Wdsub1 |
A |
G |
2: 59,700,737 (GRCm39) |
|
probably benign |
Het |
| Zp3 |
T |
A |
5: 136,016,359 (GRCm39) |
C320* |
probably null |
Het |
|
| Other mutations in B3gnt5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01352:B3gnt5
|
APN |
16 |
19,587,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01503:B3gnt5
|
APN |
16 |
19,588,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02623:B3gnt5
|
APN |
16 |
19,588,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02978:B3gnt5
|
APN |
16 |
19,588,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03355:B3gnt5
|
APN |
16 |
19,587,903 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03388:B3gnt5
|
APN |
16 |
19,588,801 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0180:B3gnt5
|
UTSW |
16 |
19,587,850 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0973:B3gnt5
|
UTSW |
16 |
19,588,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0973:B3gnt5
|
UTSW |
16 |
19,588,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0974:B3gnt5
|
UTSW |
16 |
19,588,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1034:B3gnt5
|
UTSW |
16 |
19,588,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1435:B3gnt5
|
UTSW |
16 |
19,587,924 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1480:B3gnt5
|
UTSW |
16 |
19,588,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1533:B3gnt5
|
UTSW |
16 |
19,588,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1920:B3gnt5
|
UTSW |
16 |
19,588,294 (GRCm39) |
missense |
probably benign |
0.34 |
|
R3962:B3gnt5
|
UTSW |
16 |
19,587,798 (GRCm39) |
missense |
probably benign |
0.37 |
|
R3963:B3gnt5
|
UTSW |
16 |
19,587,798 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4620:B3gnt5
|
UTSW |
16 |
19,588,632 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4948:B3gnt5
|
UTSW |
16 |
19,587,894 (GRCm39) |
missense |
probably benign |
|
|
R5027:B3gnt5
|
UTSW |
16 |
19,588,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6415:B3gnt5
|
UTSW |
16 |
19,588,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7027:B3gnt5
|
UTSW |
16 |
19,588,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7224:B3gnt5
|
UTSW |
16 |
19,588,503 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7261:B3gnt5
|
UTSW |
16 |
19,588,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7369:B3gnt5
|
UTSW |
16 |
19,588,410 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8818:B3gnt5
|
UTSW |
16 |
19,588,347 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
Z1176:B3gnt5
|
UTSW |
16 |
19,588,560 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATAGCCCTGAAGAAGCAAGC -3'
(R):5'- GGCATTGAGTTGAGACTGAAC -3'
Sequencing Primer
(F):5'- CAGACCAGAGAACATGAGACTGTTTG -3'
(R):5'- GAGACTGAACATAGTTCTCATTGCCC -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation