Incidental Mutation 'R8153:Ggta1'
| ID |
633114 |
| Institutional Source |
Beutler Lab
|
| 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 |
| MMRRC Submission |
067579-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8153 (G1)
|
| Quality Score |
94.0077 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
35290191-35353243 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 35313333 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 3
(T3S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108626
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044255]
[ENSMUST00000079424]
[ENSMUST00000102794]
[ENSMUST00000113001]
[ENSMUST00000113002]
[ENSMUST00000131745]
[ENSMUST00000164889]
|
| AlphaFold |
P23336 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044255
AA Change: T3S
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000049408
Gene: ENSMUSG00000035778
AA Change: T3S
| 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 |
possibly damaging
Transcript: ENSMUST00000079424
AA Change: T3S
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000078393
Gene: ENSMUSG00000035778
AA Change: T3S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_6
|
34 |
370 |
5.5e-177 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102794
AA Change: T3S
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000099858
Gene: ENSMUSG00000035778
AA Change: T3S
| 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 |
possibly damaging
Transcript: ENSMUST00000113001
AA Change: T3S
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000108625
Gene: ENSMUSG00000035778
AA Change: T3S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_6
|
45 |
382 |
3.6e-177 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113002
AA Change: T3S
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000108626
Gene: ENSMUSG00000035778
AA Change: T3S
| 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 |
possibly damaging
Transcript: ENSMUST00000131745
AA Change: T3S
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000115112
Gene: ENSMUSG00000035778
AA Change: T3S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_6
|
34 |
140 |
1.5e-29 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164889
AA Change: T3S
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000132408
Gene: ENSMUSG00000035778
AA Change: T3S
| 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: 99.9%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.7%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
T |
A |
7: 41,275,157 (GRCm39) |
S287T |
probably benign |
Het |
| Abca15 |
T |
C |
7: 119,999,812 (GRCm39) |
S1429P |
probably damaging |
Het |
| Arfgef2 |
GTGTGCAGAAACT |
GT |
2: 166,676,383 (GRCm39) |
92 |
probably null |
Het |
| C1qb |
A |
G |
4: 136,607,877 (GRCm39) |
V162A |
possibly damaging |
Het |
| Cachd1 |
G |
T |
4: 100,845,835 (GRCm39) |
|
probably null |
Het |
| Cfap61 |
T |
C |
2: 146,042,704 (GRCm39) |
I1159T |
probably benign |
Het |
| Csf1 |
T |
A |
3: 107,656,020 (GRCm39) |
D337V |
probably damaging |
Het |
| Ddhd2 |
T |
A |
8: 26,240,816 (GRCm39) |
T251S |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,384,576 (GRCm39) |
T3107A |
probably damaging |
Het |
| Dnph1 |
T |
C |
17: 46,809,965 (GRCm39) |
V169A |
probably benign |
Het |
| Ebf2 |
T |
C |
14: 67,627,914 (GRCm39) |
V303A |
probably damaging |
Het |
| Eif4a3l2 |
A |
T |
6: 116,528,968 (GRCm39) |
I282F |
probably damaging |
Het |
| Enpp3 |
A |
G |
10: 24,685,777 (GRCm39) |
F206S |
probably damaging |
Het |
| Fam151b |
G |
T |
13: 92,614,410 (GRCm39) |
T26K |
probably damaging |
Het |
| Fga |
T |
C |
3: 82,938,164 (GRCm39) |
S180P |
probably damaging |
Het |
| Fpr-rs3 |
A |
G |
17: 20,844,685 (GRCm39) |
L152P |
probably damaging |
Het |
| Gen1 |
C |
A |
12: 11,310,948 (GRCm39) |
G95W |
probably damaging |
Het |
| Gm4884 |
T |
A |
7: 40,692,582 (GRCm39) |
C184S |
probably benign |
Het |
| Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
| Gsx2 |
T |
C |
5: 75,237,716 (GRCm39) |
S223P |
probably damaging |
Het |
| Hnf4g |
C |
T |
3: 3,699,250 (GRCm39) |
|
probably benign |
Het |
| Iqub |
A |
C |
6: 24,450,789 (GRCm39) |
Y603* |
probably null |
Het |
| Klhl22 |
A |
G |
16: 17,610,414 (GRCm39) |
N555S |
probably damaging |
Het |
| Lama5 |
T |
C |
2: 179,829,724 (GRCm39) |
D1928G |
probably benign |
Het |
| Lamb2 |
C |
T |
9: 108,357,845 (GRCm39) |
R123W |
probably damaging |
Het |
| Lamc2 |
CATCAGCTA |
CA |
1: 152,999,850 (GRCm39) |
|
probably null |
Het |
| Lgr4 |
T |
A |
2: 109,830,645 (GRCm39) |
F255I |
probably damaging |
Het |
| Lnx2 |
T |
C |
5: 146,964,906 (GRCm39) |
N439S |
probably benign |
Het |
| Lztr1 |
G |
T |
16: 17,336,439 (GRCm39) |
|
probably null |
Het |
| Mtcl3 |
G |
T |
10: 29,024,235 (GRCm39) |
E384* |
probably null |
Het |
| Nfkb2 |
G |
T |
19: 46,296,455 (GRCm39) |
R241L |
probably damaging |
Het |
| Nrcam |
T |
C |
12: 44,631,755 (GRCm39) |
F1103L |
probably benign |
Het |
| Or2g1 |
A |
G |
17: 38,106,367 (GRCm39) |
I11V |
probably benign |
Het |
| Or5k17 |
A |
G |
16: 58,746,149 (GRCm39) |
S262P |
possibly damaging |
Het |
| Or8d2 |
A |
G |
9: 38,759,631 (GRCm39) |
I74V |
possibly damaging |
Het |
| Or8g52 |
A |
G |
9: 39,630,954 (GRCm39) |
M144V |
possibly damaging |
Het |
| Otof |
C |
A |
5: 30,546,079 (GRCm39) |
A425S |
probably damaging |
Het |
| Parg |
T |
A |
14: 31,984,777 (GRCm39) |
L774H |
probably damaging |
Het |
| Pcnx1 |
C |
T |
12: 81,965,593 (GRCm39) |
R59* |
probably null |
Het |
| Pcnx4 |
T |
A |
12: 72,603,017 (GRCm39) |
F426L |
probably benign |
Het |
| Pde5a |
T |
G |
3: 122,646,225 (GRCm39) |
S805R |
probably benign |
Het |
| Pde5a |
T |
A |
3: 122,646,227 (GRCm39) |
M806K |
probably damaging |
Het |
| Plekhh1 |
T |
C |
12: 79,125,812 (GRCm39) |
S1283P |
probably benign |
Het |
| Ppp1r12a |
A |
G |
10: 107,998,303 (GRCm39) |
K15E |
probably damaging |
Het |
| Prkdc |
A |
T |
16: 15,482,108 (GRCm39) |
M384L |
probably damaging |
Het |
| Ptchd4 |
A |
G |
17: 42,814,787 (GRCm39) |
D896G |
probably benign |
Het |
| Rsf1 |
GGC |
GGCTACGGCCGC |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Slmap |
T |
C |
14: 26,254,488 (GRCm39) |
S65G |
probably benign |
Het |
| Snta1 |
C |
A |
2: 154,222,722 (GRCm39) |
L298F |
probably damaging |
Het |
| Sphkap |
T |
G |
1: 83,255,730 (GRCm39) |
N673T |
possibly damaging |
Het |
| St8sia5 |
T |
G |
18: 77,340,807 (GRCm39) |
|
probably null |
Het |
| Tgm6 |
T |
C |
2: 129,986,975 (GRCm39) |
V481A |
probably benign |
Het |
| Thada |
T |
C |
17: 84,700,855 (GRCm39) |
N1217S |
possibly damaging |
Het |
| Tia1 |
C |
G |
6: 86,397,314 (GRCm39) |
H107D |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,746,956 (GRCm39) |
Y4698H |
probably benign |
Het |
| Ube3c |
T |
C |
5: 29,811,929 (GRCm39) |
Y390H |
possibly damaging |
Het |
| Ubqln5 |
A |
G |
7: 103,778,011 (GRCm39) |
I271T |
possibly damaging |
Het |
| Vmn2r109 |
A |
G |
17: 20,784,969 (GRCm39) |
V17A |
probably benign |
Het |
| Xkr9 |
A |
G |
1: 13,754,363 (GRCm39) |
D119G |
probably benign |
Het |
| Zfp236 |
C |
T |
18: 82,648,152 (GRCm39) |
C1003Y |
probably damaging |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAAGACAAGAGCTGCCAC -3'
(R):5'- TATGTAGGCCTCCAGCAGAAGG -3'
Sequencing Primer
(F):5'- CTGCCACAAGAAAGGGGTG -3'
(R):5'- TCCAGCAGAAGGTGTGGCTC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation