Incidental Mutation 'IGL01523:B3galt5'
| ID |
89474 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
B3galt5
|
| Ensembl Gene |
ENSMUSG00000074892 |
| Gene Name |
UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5 |
| Synonyms |
1190002B21Rik, b3Galt-V |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01523
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
96037001-96121059 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 96117091 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 241
(D241E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109431
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099497]
[ENSMUST00000113800]
|
| AlphaFold |
Q9JI67 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099497
AA Change: D241E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097096
Gene: ENSMUSG00000074892
AA Change: D241E
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
25 |
N/A |
INTRINSIC |
|
Pfam:Galactosyl_T
|
69 |
259 |
1.1e-60 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113800
AA Change: D241E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109431
Gene: ENSMUSG00000074892
AA Change: D241E
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
25 |
N/A |
INTRINSIC |
|
Pfam:Galactosyl_T
|
69 |
259 |
1.1e-60 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134058
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153586
|
| 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 a family of membrane-bound glycoproteins. The encoded protein may synthesize type 1 Lewis antigens, which are elevated in gastrointestinal and pancreatic cancers. Alternatively spliced transcript variants have been observed for this gene, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous mice for a targeted mutation appear normal. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(1) : Targeted, other(1) |
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
C |
11: 109,867,320 (GRCm39) |
E246G |
probably damaging |
Het |
| Camta1 |
A |
G |
4: 151,229,507 (GRCm39) |
F442L |
possibly damaging |
Het |
| Cntnap5b |
A |
T |
1: 100,359,504 (GRCm39) |
E709V |
probably benign |
Het |
| Ctnnal1 |
T |
C |
4: 56,835,243 (GRCm39) |
I345V |
probably damaging |
Het |
| Evpl |
T |
C |
11: 116,124,270 (GRCm39) |
N183S |
probably damaging |
Het |
| Fam90a1b |
T |
C |
X: 93,400,365 (GRCm39) |
D155G |
probably benign |
Het |
| Fsip2 |
G |
A |
2: 82,807,863 (GRCm39) |
S1394N |
probably benign |
Het |
| Gcnt2 |
A |
T |
13: 41,041,339 (GRCm39) |
Q166L |
probably benign |
Het |
| Gpatch1 |
T |
C |
7: 35,007,763 (GRCm39) |
D99G |
probably null |
Het |
| Grin2b |
A |
T |
6: 136,021,263 (GRCm39) |
W13R |
probably null |
Het |
| Hbb-bh1 |
C |
T |
7: 103,491,024 (GRCm39) |
V127M |
probably benign |
Het |
| Hc |
C |
T |
2: 34,929,250 (GRCm39) |
M282I |
probably benign |
Het |
| Hirip3 |
A |
G |
7: 126,461,876 (GRCm39) |
E57G |
probably damaging |
Het |
| Inpp5j |
C |
T |
11: 3,445,932 (GRCm39) |
|
probably null |
Het |
| Krt84 |
A |
T |
15: 101,437,179 (GRCm39) |
V328E |
probably damaging |
Het |
| Lrriq1 |
C |
A |
10: 103,053,977 (GRCm39) |
E247* |
probably null |
Het |
| Mmrn2 |
T |
A |
14: 34,125,174 (GRCm39) |
F918L |
probably damaging |
Het |
| Myh13 |
A |
G |
11: 67,238,769 (GRCm39) |
E704G |
possibly damaging |
Het |
| Myo16 |
T |
A |
8: 10,420,908 (GRCm39) |
N249K |
probably damaging |
Het |
| Nobox |
C |
A |
6: 43,281,057 (GRCm39) |
K472N |
probably damaging |
Het |
| Or1j1 |
T |
A |
2: 36,702,415 (GRCm39) |
T230S |
probably benign |
Het |
| Orc4 |
A |
T |
2: 48,807,236 (GRCm39) |
S232T |
probably benign |
Het |
| Pign |
A |
T |
1: 105,580,903 (GRCm39) |
Y159N |
probably damaging |
Het |
| Rere |
T |
A |
4: 150,700,012 (GRCm39) |
V1032E |
possibly damaging |
Het |
| Ror2 |
T |
C |
13: 53,272,999 (GRCm39) |
Q210R |
probably benign |
Het |
| Sh3tc2 |
G |
A |
18: 62,123,954 (GRCm39) |
R905Q |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,785,327 (GRCm39) |
S683P |
possibly damaging |
Het |
|
| Other mutations in B3galt5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01021:B3galt5
|
APN |
16 |
96,116,923 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL02269:B3galt5
|
APN |
16 |
96,116,730 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1991:B3galt5
|
UTSW |
16 |
96,117,225 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2103:B3galt5
|
UTSW |
16 |
96,117,225 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5633:B3galt5
|
UTSW |
16 |
96,116,709 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6017:B3galt5
|
UTSW |
16 |
96,116,384 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7155:B3galt5
|
UTSW |
16 |
96,117,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7511:B3galt5
|
UTSW |
16 |
96,116,916 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8314:B3galt5
|
UTSW |
16 |
96,116,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9664:B3galt5
|
UTSW |
16 |
96,117,203 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1177:B3galt5
|
UTSW |
16 |
96,117,232 (GRCm39) |
missense |
probably benign |
|
|
Z1177:B3galt5
|
UTSW |
16 |
96,116,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-03 |
Incidental Mutation