Incidental Mutation 'R3684:Ggta1'
ID |
269458 |
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 |
040682-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3684 (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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamdec1 |
C |
T |
14: 68,819,447 (GRCm39) |
V17I |
probably benign |
Het |
Ahdc1 |
T |
C |
4: 132,793,013 (GRCm39) |
L1418P |
possibly damaging |
Het |
Atr |
T |
C |
9: 95,802,453 (GRCm39) |
S1782P |
probably damaging |
Het |
Btbd9 |
T |
A |
17: 30,553,281 (GRCm39) |
N394Y |
probably damaging |
Het |
Calb2 |
A |
G |
8: 110,883,620 (GRCm39) |
Y35H |
probably benign |
Het |
Cdon |
A |
G |
9: 35,400,328 (GRCm39) |
E1014G |
possibly damaging |
Het |
Cep83 |
A |
G |
10: 94,622,687 (GRCm39) |
T588A |
probably benign |
Het |
Cfap126 |
T |
C |
1: 170,941,600 (GRCm39) |
S32P |
possibly damaging |
Het |
Clcn7 |
T |
C |
17: 25,369,567 (GRCm39) |
L301P |
possibly damaging |
Het |
Corin |
T |
C |
5: 72,488,198 (GRCm39) |
D610G |
probably damaging |
Het |
Dok3 |
A |
G |
13: 55,672,306 (GRCm39) |
S154P |
probably damaging |
Het |
Gldn |
G |
A |
9: 54,245,624 (GRCm39) |
E392K |
possibly damaging |
Het |
Gls |
A |
T |
1: 52,205,452 (GRCm39) |
D447E |
probably damaging |
Het |
Itih5 |
A |
T |
2: 10,243,435 (GRCm39) |
N391Y |
possibly damaging |
Het |
Jchain |
G |
A |
5: 88,670,398 (GRCm39) |
P74S |
probably damaging |
Het |
Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
Lrrn1 |
T |
C |
6: 107,544,910 (GRCm39) |
V236A |
probably benign |
Het |
Mcm3ap |
T |
C |
10: 76,325,260 (GRCm39) |
S954P |
possibly damaging |
Het |
Myh11 |
T |
C |
16: 14,021,098 (GRCm39) |
N1725S |
probably benign |
Het |
Ppcdc |
C |
T |
9: 57,328,408 (GRCm39) |
|
probably null |
Het |
Rhobtb3 |
A |
G |
13: 76,087,600 (GRCm39) |
I129T |
probably damaging |
Het |
Sfxn2 |
A |
G |
19: 46,579,592 (GRCm39) |
R252G |
probably benign |
Het |
Sh2d2a |
C |
A |
3: 87,759,027 (GRCm39) |
|
probably null |
Het |
Sh3gl1 |
T |
C |
17: 56,325,953 (GRCm39) |
K159E |
possibly damaging |
Het |
Slc7a9 |
A |
G |
7: 35,152,926 (GRCm39) |
T115A |
probably benign |
Het |
Spmap1 |
A |
T |
11: 97,666,525 (GRCm39) |
Y54N |
probably damaging |
Het |
Synj2 |
A |
T |
17: 6,078,718 (GRCm39) |
D1020V |
probably damaging |
Het |
Tenm2 |
C |
A |
11: 35,942,644 (GRCm39) |
V1342L |
probably benign |
Het |
Tmem127 |
T |
A |
2: 127,090,652 (GRCm39) |
I56N |
possibly damaging |
Het |
Traj7 |
A |
G |
14: 54,448,938 (GRCm39) |
|
probably benign |
Het |
Unc5d |
A |
G |
8: 29,184,620 (GRCm39) |
F627L |
probably damaging |
Het |
Unc79 |
T |
A |
12: 103,041,062 (GRCm39) |
N698K |
probably benign |
Het |
Usp17la |
A |
T |
7: 104,510,937 (GRCm39) |
N514I |
possibly damaging |
Het |
Uvrag |
A |
T |
7: 98,637,427 (GRCm39) |
C341S |
probably damaging |
Het |
Zfp810 |
T |
C |
9: 22,189,531 (GRCm39) |
D459G |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTCAGCCATTATAAGAAAGAAGGG -3'
(R):5'- CCTATGCATTTGTGCCTGGC -3'
Sequencing Primer
(F):5'- GGGAAGTCTACTGTCAAATTCCAGC -3'
(R):5'- CTTTCATGCAGGCAAGATTCAGTGAC -3'
|
Posted On |
2015-02-19 |