Incidental Mutation 'IGL03388:B3gnt5'
ID |
420940 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
B3gnt5
|
Ensembl Gene |
ENSMUSG00000022686 |
Gene Name |
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.525)
|
Stock # |
IGL03388
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
19578958-19591503 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 19588801 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 340
(K340R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126157
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079780]
[ENSMUST00000119468]
[ENSMUST00000121344]
[ENSMUST00000164397]
|
AlphaFold |
Q8BGY6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079780
AA Change: K340R
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000078712 Gene: ENSMUSG00000022686 AA Change: K340R
Domain | Start | End | E-Value | Type |
transmembrane domain
|
12 |
34 |
N/A |
INTRINSIC |
Pfam:Galactosyl_T
|
100 |
299 |
2e-49 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119468
AA Change: K340R
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000113145 Gene: ENSMUSG00000022686 AA Change: K340R
Domain | Start | End | E-Value | Type |
transmembrane domain
|
12 |
34 |
N/A |
INTRINSIC |
Pfam:Galactosyl_T
|
100 |
299 |
2e-49 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000121344
AA Change: K340R
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000112624 Gene: ENSMUSG00000022686 AA Change: K340R
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 |
possibly damaging
Transcript: ENSMUST00000164397
AA Change: K340R
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000126157 Gene: ENSMUSG00000022686 AA Change: K340R
Domain | Start | End | E-Value | Type |
transmembrane domain
|
12 |
34 |
N/A |
INTRINSIC |
Pfam:Galactosyl_T
|
100 |
299 |
2e-49 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6030468B19Rik |
T |
C |
11: 117,693,596 (GRCm39) |
|
probably benign |
Het |
Ccr3 |
A |
G |
9: 123,828,658 (GRCm39) |
|
probably benign |
Het |
Cdan1 |
A |
G |
2: 120,560,992 (GRCm39) |
|
probably benign |
Het |
Clasp1 |
T |
A |
1: 118,433,233 (GRCm39) |
D237E |
possibly damaging |
Het |
Ddx18 |
T |
C |
1: 121,493,652 (GRCm39) |
K111E |
possibly damaging |
Het |
Defa21 |
T |
C |
8: 21,515,764 (GRCm39) |
L54P |
probably damaging |
Het |
Dennd3 |
T |
C |
15: 73,416,208 (GRCm39) |
V486A |
probably damaging |
Het |
Dnah9 |
T |
A |
11: 65,838,368 (GRCm39) |
D3143V |
probably damaging |
Het |
Dnm1l |
A |
G |
16: 16,131,916 (GRCm39) |
|
probably benign |
Het |
Epb41 |
T |
C |
4: 131,702,105 (GRCm39) |
Y510C |
probably damaging |
Het |
Fat4 |
T |
C |
3: 39,011,376 (GRCm39) |
Y2159H |
probably damaging |
Het |
Fmo1 |
A |
G |
1: 162,663,716 (GRCm39) |
V271A |
probably benign |
Het |
Gm12185 |
A |
G |
11: 48,799,113 (GRCm39) |
V460A |
probably benign |
Het |
Hspa8 |
T |
C |
9: 40,716,224 (GRCm39) |
|
probably benign |
Het |
Hspb7 |
A |
G |
4: 141,151,356 (GRCm39) |
E166G |
probably damaging |
Het |
Il31ra |
C |
A |
13: 112,682,746 (GRCm39) |
S120I |
probably damaging |
Het |
Kdm5b |
A |
G |
1: 134,555,060 (GRCm39) |
T1323A |
probably benign |
Het |
Lgals9 |
T |
A |
11: 78,854,247 (GRCm39) |
I346F |
probably damaging |
Het |
Lgi2 |
T |
C |
5: 52,695,819 (GRCm39) |
D372G |
probably damaging |
Het |
Magi3 |
A |
C |
3: 103,923,157 (GRCm39) |
S1187A |
probably benign |
Het |
Nr1d2 |
A |
G |
14: 18,215,403 (GRCm38) |
F203S |
probably benign |
Het |
Nup210l |
G |
A |
3: 90,077,351 (GRCm39) |
V896I |
probably damaging |
Het |
Nxf7 |
T |
C |
X: 134,485,489 (GRCm39) |
K440E |
probably damaging |
Het |
Or6c206 |
A |
T |
10: 129,097,312 (GRCm39) |
I161F |
probably benign |
Het |
Or9i1b |
T |
A |
19: 13,896,984 (GRCm39) |
V200D |
probably damaging |
Het |
Pcdhb6 |
T |
C |
18: 37,469,190 (GRCm39) |
S20P |
probably damaging |
Het |
Per2 |
G |
T |
1: 91,372,511 (GRCm39) |
|
probably benign |
Het |
Pi15 |
G |
A |
1: 17,673,001 (GRCm39) |
A67T |
probably benign |
Het |
Pnp2 |
A |
T |
14: 51,200,995 (GRCm39) |
N160I |
probably damaging |
Het |
Ppp1r12c |
A |
G |
7: 4,485,069 (GRCm39) |
|
probably benign |
Het |
Rabgap1l |
A |
T |
1: 160,561,093 (GRCm39) |
|
probably null |
Het |
Rnf115 |
G |
A |
3: 96,695,984 (GRCm39) |
V257M |
probably damaging |
Het |
Rtkn |
T |
A |
6: 83,127,071 (GRCm39) |
V346D |
probably benign |
Het |
Rubcn |
A |
T |
16: 32,661,938 (GRCm39) |
N427K |
probably benign |
Het |
Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
Sel1l2 |
A |
C |
2: 140,105,284 (GRCm39) |
|
probably benign |
Het |
Septin4 |
T |
A |
11: 87,459,042 (GRCm39) |
L472* |
probably null |
Het |
Slc5a5 |
A |
G |
8: 71,342,972 (GRCm39) |
V196A |
probably benign |
Het |
Sox13 |
A |
T |
1: 133,316,686 (GRCm39) |
L207H |
probably damaging |
Het |
Tmtc2 |
A |
G |
10: 105,157,344 (GRCm39) |
|
probably benign |
Het |
Trip12 |
T |
C |
1: 84,720,907 (GRCm39) |
K1409R |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,797,481 (GRCm39) |
A528T |
probably benign |
Het |
Ubr4 |
T |
C |
4: 139,142,343 (GRCm39) |
I1310T |
probably damaging |
Het |
Ypel5 |
T |
C |
17: 73,153,400 (GRCm39) |
F35L |
probably damaging |
Het |
Zfp13 |
G |
T |
17: 23,795,888 (GRCm39) |
R228S |
probably benign |
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 |
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 |
|
R4987:B3gnt5
|
UTSW |
16 |
19,587,952 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
|
Posted On |
2016-08-02 |