Incidental Mutation 'IGL01021:B3galt5'
| ID |
54030 |
| 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 # |
IGL01021
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
96037001-96121059 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 96116923 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 185
(H185Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109431
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099497]
[ENSMUST00000113800]
|
| AlphaFold |
Q9JI67 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099497
AA Change: H185Q
PolyPhen 2
Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000097096
Gene: ENSMUSG00000074892
AA Change: H185Q
| 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 benign
Transcript: ENSMUST00000113800
AA Change: H185Q
PolyPhen 2
Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000109431
Gene: ENSMUSG00000074892
AA Change: H185Q
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930533L02Rik |
T |
C |
7: 124,917,848 (GRCm39) |
V80A |
unknown |
Het |
| Adam28 |
A |
G |
14: 68,879,563 (GRCm39) |
S162P |
probably benign |
Het |
| Adamts14 |
G |
T |
10: 61,061,152 (GRCm39) |
S426Y |
probably damaging |
Het |
| Ankrd24 |
A |
G |
10: 81,470,995 (GRCm39) |
|
probably null |
Het |
| Bod1l |
A |
G |
5: 41,995,516 (GRCm39) |
|
probably benign |
Het |
| Ddx46 |
T |
A |
13: 55,814,145 (GRCm39) |
Y700* |
probably null |
Het |
| Dph7 |
T |
G |
2: 24,861,935 (GRCm39) |
|
probably null |
Het |
| Eif1ad9 |
G |
A |
12: 88,296,042 (GRCm39) |
G7R |
unknown |
Het |
| Fcho1 |
A |
T |
8: 72,166,167 (GRCm39) |
Y354* |
probably null |
Het |
| Fnbp4 |
A |
G |
2: 90,608,013 (GRCm39) |
M912V |
probably benign |
Het |
| Fpgt |
T |
A |
3: 154,797,129 (GRCm39) |
E42V |
possibly damaging |
Het |
| Frmd3 |
A |
G |
4: 73,992,357 (GRCm39) |
I75V |
possibly damaging |
Het |
| Gm3278 |
G |
T |
14: 16,082,261 (GRCm39) |
V159L |
possibly damaging |
Het |
| Gmds |
T |
C |
13: 32,311,013 (GRCm39) |
I205V |
possibly damaging |
Het |
| Gprin1 |
T |
A |
13: 54,888,182 (GRCm39) |
S31C |
probably damaging |
Het |
| Igkv4-68 |
T |
C |
6: 69,281,865 (GRCm39) |
E102G |
probably damaging |
Het |
| Itga1 |
T |
A |
13: 115,133,536 (GRCm39) |
Y458F |
probably benign |
Het |
| Kif20b |
T |
C |
19: 34,915,660 (GRCm39) |
V479A |
possibly damaging |
Het |
| Megf8 |
T |
A |
7: 25,037,799 (GRCm39) |
W772R |
probably benign |
Het |
| Muc6 |
T |
A |
7: 141,217,075 (GRCm39) |
I2533F |
possibly damaging |
Het |
| Npas3 |
T |
C |
12: 54,050,343 (GRCm39) |
S258P |
probably damaging |
Het |
| Padi3 |
T |
C |
4: 140,523,645 (GRCm39) |
|
probably benign |
Het |
| Pmfbp1 |
G |
T |
8: 110,264,625 (GRCm39) |
R897L |
possibly damaging |
Het |
| Rims1 |
A |
T |
1: 22,525,701 (GRCm39) |
W407R |
probably damaging |
Het |
| Scnn1b |
G |
T |
7: 121,517,259 (GRCm39) |
D632Y |
probably damaging |
Het |
| Tas2r123 |
G |
A |
6: 132,824,369 (GRCm39) |
A89T |
probably benign |
Het |
| Tbk1 |
T |
C |
10: 121,387,177 (GRCm39) |
E706G |
probably benign |
Het |
| Thra |
A |
G |
11: 98,653,754 (GRCm39) |
D195G |
possibly damaging |
Het |
| Tpp2 |
T |
A |
1: 43,973,347 (GRCm39) |
Y33* |
probably null |
Het |
| Usp6nl |
T |
A |
2: 6,429,198 (GRCm39) |
M220K |
probably damaging |
Het |
| Vmn2r112 |
C |
T |
17: 22,837,885 (GRCm39) |
T782I |
probably damaging |
Het |
| Zbtb43 |
T |
C |
2: 33,343,771 (GRCm39) |
T485A |
probably benign |
Het |
| Zfat |
T |
C |
15: 68,042,015 (GRCm39) |
I840V |
possibly damaging |
Het |
|
| Other mutations in B3galt5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01523:B3galt5
|
APN |
16 |
96,117,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2013-06-28 |
Incidental Mutation