Incidental Mutation 'R3685:Ggta1'
| ID |
269494 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3685 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
35290191-35353243 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 35298000 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 162
(T162S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099858
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044255]
[ENSMUST00000079424]
[ENSMUST00000102794]
[ENSMUST00000113001]
[ENSMUST00000113002]
[ENSMUST00000131745]
[ENSMUST00000164889]
|
| AlphaFold |
P23336 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044255
AA Change: T162S
PolyPhen 2
Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000049408
Gene: ENSMUSG00000035778
AA Change: T162S
| 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
AA Change: T128S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000078393
Gene: ENSMUSG00000035778
AA Change: T128S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_6
|
34 |
370 |
5.5e-177 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102794
AA Change: T162S
PolyPhen 2
Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000099858
Gene: ENSMUSG00000035778
AA Change: T162S
| 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
AA Change: T140S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000108625
Gene: ENSMUSG00000035778
AA Change: T140S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_6
|
45 |
382 |
3.6e-177 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113002
AA Change: T150S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000108626
Gene: ENSMUSG00000035778
AA Change: T150S
| 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
AA Change: T128S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000115112
Gene: ENSMUSG00000035778
AA Change: T128S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_6
|
34 |
140 |
1.5e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164889
AA Change: T150S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000132408
Gene: ENSMUSG00000035778
AA Change: T150S
| 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: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahdc1 |
T |
C |
4: 132,793,013 (GRCm39) |
L1418P |
possibly damaging |
Het |
| Atp13a5 |
G |
C |
16: 29,135,573 (GRCm39) |
L340V |
probably damaging |
Het |
| Cdon |
A |
G |
9: 35,400,328 (GRCm39) |
E1014G |
possibly damaging |
Het |
| Cyp2c40 |
A |
G |
19: 39,775,223 (GRCm39) |
M343T |
possibly damaging |
Het |
| Dmrtc2 |
T |
C |
7: 24,573,687 (GRCm39) |
V174A |
probably benign |
Het |
| Gm9637 |
A |
G |
14: 19,401,950 (GRCm38) |
|
noncoding transcript |
Het |
| Gpbp1 |
T |
C |
13: 111,603,405 (GRCm39) |
T15A |
probably benign |
Het |
| Itih5 |
A |
T |
2: 10,243,435 (GRCm39) |
N391Y |
possibly damaging |
Het |
| Klhl40 |
A |
G |
9: 121,611,724 (GRCm39) |
E579G |
probably damaging |
Het |
| Or4a73 |
C |
A |
2: 89,421,099 (GRCm39) |
R120L |
probably damaging |
Het |
| Or4c118 |
A |
T |
2: 88,975,364 (GRCm39) |
M1K |
probably null |
Het |
| Or5d37 |
T |
A |
2: 87,923,603 (GRCm39) |
I226F |
probably damaging |
Het |
| Prr16 |
C |
A |
18: 51,435,892 (GRCm39) |
P124T |
probably damaging |
Het |
| Ribc2 |
A |
G |
15: 85,019,535 (GRCm39) |
T106A |
possibly damaging |
Het |
| Slc37a1 |
C |
A |
17: 31,544,667 (GRCm39) |
T253N |
probably benign |
Het |
| Smpd1 |
T |
A |
7: 105,204,609 (GRCm39) |
C163S |
probably damaging |
Het |
| Tacc2 |
A |
G |
7: 130,226,800 (GRCm39) |
S1162G |
probably benign |
Het |
| Tenm2 |
C |
A |
11: 35,942,644 (GRCm39) |
V1342L |
probably benign |
Het |
| Trim34a |
T |
C |
7: 103,909,333 (GRCm39) |
|
probably null |
Het |
| Zfand6 |
G |
A |
7: 84,283,570 (GRCm39) |
P11S |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCAGCCATTATAAGAAAGAAGGG -3'
(R):5'- TATGCATTTGTGCCTGGCCC -3'
Sequencing Primer
(F):5'- GGGAAGTCTACTGTCAAATTCCAGC -3'
(R):5'- CTTTCATGCAGGCAAGATTCAGTGAC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation