Incidental Mutation 'IGL02796:Ggta1'
| ID |
362001 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ggta1
|
| Ensembl Gene |
ENSMUSG00000035778 |
| Gene Name |
glycoprotein galactosyltransferase alpha 1, 3 |
| Synonyms |
alpha Gal, Gal, Ggta, GALT, alpha3GalT, glycoprotein alpha galactosyl transferase 1, Ggta-1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02796 (G1)
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
35290191-35353243 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 35303329 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132408
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044255]
[ENSMUST00000079424]
[ENSMUST00000102794]
[ENSMUST00000113001]
[ENSMUST00000113002]
[ENSMUST00000131745]
[ENSMUST00000164889]
|
| AlphaFold |
P23336 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044255
|
| SMART Domains |
Protein: ENSMUSP00000049408
Gene: ENSMUSG00000035778
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
42 |
60 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_6
|
81 |
404 |
1.2e-165 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079424
|
| SMART Domains |
Protein: ENSMUSP00000078393
Gene: ENSMUSG00000035778
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_6
|
34 |
370 |
5.5e-177 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102794
|
| SMART Domains |
Protein: ENSMUSP00000099858
Gene: ENSMUSG00000035778
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
42 |
60 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_6
|
74 |
404 |
4.3e-182 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113001
|
| SMART Domains |
Protein: ENSMUSP00000108625
Gene: ENSMUSG00000035778
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_6
|
45 |
382 |
3.6e-177 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113002
|
| SMART Domains |
Protein: ENSMUSP00000108626
Gene: ENSMUSG00000035778
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
42 |
60 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_6
|
62 |
392 |
3.6e-182 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131745
|
| SMART Domains |
Protein: ENSMUSP00000115112
Gene: ENSMUSG00000035778
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_6
|
34 |
140 |
1.5e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164889
|
| SMART Domains |
Protein: ENSMUSP00000132408
Gene: ENSMUSG00000035778
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
42 |
60 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_6
|
62 |
392 |
3.6e-182 |
PFAM |
|
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
98% (50/51) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the galactosyltransferase family of intracellular, membrane-bound enzymes that are involved in the biosynthesis of glycoproteins and glycolipids. The encoded protein catalyzes the transfer of galactose from UDP-galactose to N-acetyllactosamine in an alpha(1,3) linkage to form galactose alpha(1,3)-galactose. Mice lacking the encoded protein develop cortical cataracts. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2015]
PHENOTYPE: Mice homozygous for disruption of this gene display defects in humoral immune responses. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl5 |
A |
T |
19: 55,266,601 (GRCm39) |
K86* |
probably null |
Het |
| Ambp |
C |
A |
4: 63,072,169 (GRCm39) |
|
probably benign |
Het |
| Atp6v0d2 |
A |
T |
4: 19,887,324 (GRCm39) |
M208K |
probably damaging |
Het |
| Brinp1 |
C |
G |
4: 68,680,427 (GRCm39) |
R701P |
probably damaging |
Het |
| Btnl9 |
T |
C |
11: 49,060,008 (GRCm39) |
D580G |
probably damaging |
Het |
| Cand1 |
A |
T |
10: 119,049,543 (GRCm39) |
L401H |
probably damaging |
Het |
| Ccdc66 |
T |
C |
14: 27,208,523 (GRCm39) |
E577G |
possibly damaging |
Het |
| Ccdc93 |
C |
A |
1: 121,418,895 (GRCm39) |
D483E |
probably damaging |
Het |
| Cd38 |
T |
C |
5: 44,063,555 (GRCm39) |
L216P |
probably damaging |
Het |
| Cdr1 |
C |
T |
X: 60,228,087 (GRCm39) |
D360N |
possibly damaging |
Het |
| Cibar2 |
C |
T |
8: 120,904,138 (GRCm39) |
|
probably benign |
Het |
| Col9a3 |
G |
T |
2: 180,255,955 (GRCm39) |
D443Y |
probably damaging |
Het |
| Cpt1b |
C |
T |
15: 89,309,005 (GRCm39) |
V66I |
probably benign |
Het |
| Cyp8b1 |
T |
A |
9: 121,744,564 (GRCm39) |
Y256F |
probably benign |
Het |
| Dennd10 |
A |
G |
19: 60,806,081 (GRCm39) |
|
probably benign |
Het |
| Dync1i1 |
A |
G |
6: 5,757,385 (GRCm39) |
N48S |
probably benign |
Het |
| Ehd3 |
T |
A |
17: 74,123,396 (GRCm39) |
L133Q |
probably damaging |
Het |
| Eif6 |
C |
A |
2: 155,668,068 (GRCm39) |
R57L |
probably damaging |
Het |
| Fcgbp |
T |
A |
7: 27,800,576 (GRCm39) |
|
probably benign |
Het |
| Fgl1 |
C |
T |
8: 41,650,095 (GRCm39) |
A229T |
probably benign |
Het |
| Flg2 |
C |
T |
3: 93,110,920 (GRCm39) |
R983W |
unknown |
Het |
| Gdf7 |
A |
T |
12: 8,351,666 (GRCm39) |
S90T |
unknown |
Het |
| Gm44859 |
C |
T |
19: 12,014,112 (GRCm39) |
|
probably benign |
Het |
| Grin2a |
T |
C |
16: 9,402,972 (GRCm39) |
E838G |
possibly damaging |
Het |
| Grin2c |
A |
G |
11: 115,141,543 (GRCm39) |
|
probably benign |
Het |
| Grm1 |
T |
C |
10: 10,565,411 (GRCm39) |
T966A |
probably benign |
Het |
| Gtpbp1 |
A |
G |
15: 79,601,186 (GRCm39) |
I468M |
possibly damaging |
Het |
| Gucy1b2 |
G |
A |
14: 62,645,143 (GRCm39) |
P639S |
probably benign |
Het |
| Hat1 |
T |
C |
2: 71,250,700 (GRCm39) |
|
probably null |
Het |
| Hira |
A |
T |
16: 18,744,404 (GRCm39) |
I374F |
probably benign |
Het |
| Htt |
C |
A |
5: 35,034,826 (GRCm39) |
Q2024K |
probably benign |
Het |
| Kcnj6 |
A |
G |
16: 94,633,778 (GRCm39) |
M111T |
probably benign |
Het |
| Loxhd1 |
T |
A |
18: 77,456,811 (GRCm39) |
|
probably benign |
Het |
| Lrif1 |
T |
A |
3: 106,642,752 (GRCm39) |
M619K |
probably benign |
Het |
| Lrrc8b |
G |
A |
5: 105,629,211 (GRCm39) |
G519D |
probably damaging |
Het |
| Map3k7 |
A |
G |
4: 31,979,692 (GRCm39) |
|
probably benign |
Het |
| Or2ah1 |
T |
C |
2: 85,653,933 (GRCm39) |
I206T |
probably benign |
Het |
| Or4d6 |
T |
A |
19: 12,086,248 (GRCm39) |
I221F |
possibly damaging |
Het |
| P2ry12 |
T |
C |
3: 59,125,302 (GRCm39) |
I124M |
probably damaging |
Het |
| Paxbp1 |
A |
G |
16: 90,822,182 (GRCm39) |
|
probably benign |
Het |
| Polb |
A |
T |
8: 23,121,474 (GRCm39) |
I257N |
probably damaging |
Het |
| Psg27 |
A |
T |
7: 18,295,875 (GRCm39) |
V190E |
probably benign |
Het |
| Rabgap1 |
T |
A |
2: 37,362,318 (GRCm39) |
N54K |
probably damaging |
Het |
| Sacm1l |
T |
A |
9: 123,377,989 (GRCm39) |
W90R |
possibly damaging |
Het |
| Snrpb2 |
A |
T |
2: 142,906,487 (GRCm39) |
M1L |
probably benign |
Het |
| Spata31d1d |
A |
G |
13: 59,876,057 (GRCm39) |
Y493H |
possibly damaging |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Spocd1 |
A |
G |
4: 129,841,548 (GRCm39) |
|
probably benign |
Het |
| Tbc1d5 |
G |
T |
17: 51,273,652 (GRCm39) |
H123Q |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,608,445 (GRCm39) |
N17826S |
probably damaging |
Het |
| Tubgcp6 |
A |
G |
15: 89,006,593 (GRCm39) |
I143T |
probably benign |
Het |
| Usp48 |
A |
G |
4: 137,338,029 (GRCm39) |
Y268C |
probably damaging |
Het |
| Zfhx4 |
G |
A |
3: 5,464,599 (GRCm39) |
V1586M |
probably damaging |
Het |
| Zfp146 |
C |
T |
7: 29,861,983 (GRCm39) |
V20I |
probably benign |
Het |
| Zfp263 |
G |
A |
16: 3,564,740 (GRCm39) |
E252K |
probably benign |
Het |
|
| Other mutations in Ggta1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01366:Ggta1
|
APN |
2 |
35,292,462 (GRCm39) |
nonsense |
probably null |
|
|
IGL01903:Ggta1
|
APN |
2 |
35,292,569 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL02799:Ggta1
|
UTSW |
2 |
35,312,211 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0383:Ggta1
|
UTSW |
2 |
35,292,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1430:Ggta1
|
UTSW |
2 |
35,298,029 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1667:Ggta1
|
UTSW |
2 |
35,304,295 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1672:Ggta1
|
UTSW |
2 |
35,292,145 (GRCm39) |
nonsense |
probably null |
|
|
R2246:Ggta1
|
UTSW |
2 |
35,292,121 (GRCm39) |
makesense |
probably null |
|
|
R3149:Ggta1
|
UTSW |
2 |
35,292,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3683:Ggta1
|
UTSW |
2 |
35,298,000 (GRCm39) |
missense |
probably benign |
0.39 |
|
R3684:Ggta1
|
UTSW |
2 |
35,298,000 (GRCm39) |
missense |
probably benign |
0.39 |
|
R3685:Ggta1
|
UTSW |
2 |
35,298,000 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4812:Ggta1
|
UTSW |
2 |
35,292,735 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4856:Ggta1
|
UTSW |
2 |
35,292,803 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R5079:Ggta1
|
UTSW |
2 |
35,312,249 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5756:Ggta1
|
UTSW |
2 |
35,292,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6279:Ggta1
|
UTSW |
2 |
35,298,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6651:Ggta1
|
UTSW |
2 |
35,292,306 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6967:Ggta1
|
UTSW |
2 |
35,292,734 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7152:Ggta1
|
UTSW |
2 |
35,292,711 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7529:Ggta1
|
UTSW |
2 |
35,304,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7534:Ggta1
|
UTSW |
2 |
35,292,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7557:Ggta1
|
UTSW |
2 |
35,292,548 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7610:Ggta1
|
UTSW |
2 |
35,304,230 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8153:Ggta1
|
UTSW |
2 |
35,313,333 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8195:Ggta1
|
UTSW |
2 |
35,312,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8447:Ggta1
|
UTSW |
2 |
35,292,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8739:Ggta1
|
UTSW |
2 |
35,292,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9122:Ggta1
|
UTSW |
2 |
35,303,336 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9470:Ggta1
|
UTSW |
2 |
35,292,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9567:Ggta1
|
UTSW |
2 |
35,313,333 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9720:Ggta1
|
UTSW |
2 |
35,303,418 (GRCm39) |
missense |
probably benign |
|
|
R9721:Ggta1
|
UTSW |
2 |
35,303,418 (GRCm39) |
missense |
probably benign |
|
|
R9723:Ggta1
|
UTSW |
2 |
35,303,418 (GRCm39) |
missense |
probably benign |
|
|
R9726:Ggta1
|
UTSW |
2 |
35,292,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0010:Ggta1
|
UTSW |
2 |
35,292,731 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-12-18 |
Incidental Mutation