Incidental Mutation 'IGL01366:Ggta1'
| ID |
75927 |
| 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 # |
IGL01366
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
35290191-35353243 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 35292462 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 282
(E282*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132408
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044255]
[ENSMUST00000079424]
[ENSMUST00000102794]
[ENSMUST00000113001]
[ENSMUST00000113002]
[ENSMUST00000164889]
|
| AlphaFold |
P23336 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000044255
AA Change: E294*
|
| SMART Domains |
Protein: ENSMUSP00000049408
Gene: ENSMUSG00000035778
AA Change: E294*
| 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 null
Transcript: ENSMUST00000079424
AA Change: E260*
|
| SMART Domains |
Protein: ENSMUSP00000078393
Gene: ENSMUSG00000035778
AA Change: E260*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_6
|
34 |
370 |
5.5e-177 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000102794
AA Change: E294*
|
| SMART Domains |
Protein: ENSMUSP00000099858
Gene: ENSMUSG00000035778
AA Change: E294*
| 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 null
Transcript: ENSMUST00000113001
AA Change: E272*
|
| SMART Domains |
Protein: ENSMUSP00000108625
Gene: ENSMUSG00000035778
AA Change: E272*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_6
|
45 |
382 |
3.6e-177 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000113002
AA Change: E282*
|
| SMART Domains |
Protein: ENSMUSP00000108626
Gene: ENSMUSG00000035778
AA Change: E282*
| 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 null
Transcript: ENSMUST00000164889
AA Change: E282*
|
| SMART Domains |
Protein: ENSMUSP00000132408
Gene: ENSMUSG00000035778
AA Change: E282*
| 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 |
|
| Validation Efficiency |
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310002L09Rik |
A |
T |
4: 73,868,937 (GRCm39) |
|
probably benign |
Het |
| Adamts2 |
T |
C |
11: 50,687,295 (GRCm39) |
Y1041H |
probably damaging |
Het |
| Adck5 |
A |
C |
15: 76,479,816 (GRCm39) |
*568C |
probably null |
Het |
| AK157302 |
T |
A |
13: 21,679,471 (GRCm39) |
|
probably benign |
Het |
| Bmpr2 |
G |
T |
1: 59,852,836 (GRCm39) |
G56W |
probably damaging |
Het |
| Capn11 |
A |
C |
17: 45,964,126 (GRCm39) |
I146S |
probably damaging |
Het |
| Ccdc162 |
A |
T |
10: 41,456,302 (GRCm39) |
D1613E |
possibly damaging |
Het |
| Ccdc167 |
T |
C |
17: 29,924,286 (GRCm39) |
E50G |
probably damaging |
Het |
| Col5a2 |
G |
T |
1: 45,431,048 (GRCm39) |
P864Q |
possibly damaging |
Het |
| Col7a1 |
C |
T |
9: 108,806,187 (GRCm39) |
|
probably benign |
Het |
| Crebbp |
T |
A |
16: 3,944,370 (GRCm39) |
H556L |
probably damaging |
Het |
| Dcpp1 |
T |
A |
17: 24,101,710 (GRCm39) |
I153N |
possibly damaging |
Het |
| Dgke |
C |
T |
11: 88,946,212 (GRCm39) |
R196H |
probably benign |
Het |
| Efr3a |
T |
A |
15: 65,722,999 (GRCm39) |
I459K |
probably benign |
Het |
| Espl1 |
T |
A |
15: 102,228,271 (GRCm39) |
C1682S |
probably benign |
Het |
| Exosc3 |
C |
T |
4: 45,317,747 (GRCm39) |
R185H |
probably damaging |
Het |
| Fgd6 |
T |
C |
10: 93,879,338 (GRCm39) |
V64A |
possibly damaging |
Het |
| Fhip2b |
G |
A |
14: 70,822,813 (GRCm39) |
R688C |
probably damaging |
Het |
| Gata3 |
A |
G |
2: 9,882,276 (GRCm39) |
L42P |
probably damaging |
Het |
| Ghr |
T |
C |
15: 3,349,669 (GRCm39) |
D503G |
probably damaging |
Het |
| Gls |
C |
T |
1: 52,207,558 (GRCm39) |
G602D |
probably damaging |
Het |
| Gm2058 |
A |
G |
7: 39,238,658 (GRCm39) |
|
noncoding transcript |
Het |
| Grb7 |
T |
C |
11: 98,343,100 (GRCm39) |
|
probably benign |
Het |
| Ifngr1 |
A |
T |
10: 19,485,348 (GRCm39) |
H449L |
probably damaging |
Het |
| Ighg2b |
T |
G |
12: 113,270,656 (GRCm39) |
D158A |
possibly damaging |
Het |
| Nphs2 |
T |
C |
1: 156,138,605 (GRCm39) |
V83A |
probably benign |
Het |
| Parp6 |
T |
A |
9: 59,543,996 (GRCm39) |
M390K |
possibly damaging |
Het |
| Pask |
T |
C |
1: 93,238,574 (GRCm39) |
K1304E |
probably benign |
Het |
| Scai |
A |
G |
2: 38,996,973 (GRCm39) |
S274P |
probably benign |
Het |
| Sik2 |
A |
G |
9: 50,818,763 (GRCm39) |
S404P |
probably damaging |
Het |
| Slc7a8 |
A |
T |
14: 55,018,645 (GRCm39) |
I47N |
probably damaging |
Het |
| Tas2r113 |
A |
T |
6: 132,870,760 (GRCm39) |
I263F |
probably benign |
Het |
| Tdrd1 |
T |
A |
19: 56,843,734 (GRCm39) |
D737E |
probably benign |
Het |
| Trio |
T |
C |
15: 27,732,954 (GRCm39) |
T2976A |
possibly damaging |
Het |
| Ttc28 |
T |
C |
5: 111,233,037 (GRCm39) |
|
probably null |
Het |
| Vmn1r21 |
A |
G |
6: 57,820,799 (GRCm39) |
I215T |
probably benign |
Het |
|
| Other mutations in Ggta1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01903:Ggta1
|
APN |
2 |
35,292,569 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL02796:Ggta1
|
APN |
2 |
35,303,329 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2013-10-07 |
Incidental Mutation