Incidental Mutation 'R8739:Ggta1'
| ID |
663206 |
| 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 |
068586-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8739 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
35290191-35353243 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35292572 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 245
(D245G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108626
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044255]
[ENSMUST00000079424]
[ENSMUST00000102794]
[ENSMUST00000113001]
[ENSMUST00000113002]
[ENSMUST00000164889]
|
| AlphaFold |
P23336 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044255
AA Change: D257G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000049408
Gene: ENSMUSG00000035778
AA Change: D257G
| 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 damaging
Transcript: ENSMUST00000079424
AA Change: D223G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000078393
Gene: ENSMUSG00000035778
AA Change: D223G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_6
|
34 |
370 |
5.5e-177 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102794
AA Change: D257G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099858
Gene: ENSMUSG00000035778
AA Change: D257G
| 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 damaging
Transcript: ENSMUST00000113001
AA Change: D235G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108625
Gene: ENSMUSG00000035778
AA Change: D235G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_6
|
45 |
382 |
3.6e-177 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113002
AA Change: D245G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108626
Gene: ENSMUSG00000035778
AA Change: D245G
| 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 damaging
Transcript: ENSMUST00000164889
AA Change: D245G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132408
Gene: ENSMUSG00000035778
AA Change: D245G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
42 |
60 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_6
|
62 |
392 |
3.6e-182 |
PFAM |
|
| Meta Mutation Damage Score |
0.6329 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
| Validation Efficiency |
100% (59/59) |
| 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 |
|---|
| Adam24 |
T |
C |
8: 41,133,480 (GRCm39) |
V316A |
possibly damaging |
Het |
| Adamts9 |
T |
C |
6: 92,831,261 (GRCm39) |
E1364G |
probably benign |
Het |
| Agrn |
C |
T |
4: 156,257,045 (GRCm39) |
R1233Q |
probably benign |
Het |
| Ankrd6 |
A |
G |
4: 32,806,337 (GRCm39) |
S639P |
possibly damaging |
Het |
| Arid5a |
A |
G |
1: 36,358,677 (GRCm39) |
N418S |
probably benign |
Het |
| Cep152 |
T |
C |
2: 125,461,975 (GRCm39) |
E69G |
probably benign |
Het |
| Chrnb2 |
A |
G |
3: 89,669,746 (GRCm39) |
S109P |
probably damaging |
Het |
| Chuk |
A |
G |
19: 44,077,135 (GRCm39) |
S404P |
probably benign |
Het |
| Clec4a3 |
T |
C |
6: 122,944,508 (GRCm39) |
Y185H |
probably damaging |
Het |
| Dctd |
T |
A |
8: 48,591,883 (GRCm39) |
L149H |
probably benign |
Het |
| Dgkb |
T |
A |
12: 38,278,323 (GRCm39) |
|
probably benign |
Het |
| Dhrs13 |
G |
C |
11: 77,923,492 (GRCm39) |
R70P |
possibly damaging |
Het |
| Dnah5 |
G |
A |
15: 28,346,006 (GRCm39) |
A2449T |
probably benign |
Het |
| Dync1h1 |
T |
C |
12: 110,581,014 (GRCm39) |
V247A |
probably damaging |
Het |
| Eef1ece2 |
G |
A |
16: 20,449,665 (GRCm39) |
|
probably benign |
Het |
| Espnl |
T |
A |
1: 91,272,317 (GRCm39) |
L559Q |
probably damaging |
Het |
| Gak |
A |
G |
5: 108,739,604 (GRCm39) |
V627A |
possibly damaging |
Het |
| Gcnt1 |
A |
T |
19: 17,307,437 (GRCm39) |
M96K |
probably benign |
Het |
| Hfm1 |
A |
T |
5: 107,046,371 (GRCm39) |
F505Y |
probably damaging |
Het |
| Inpp4a |
A |
G |
1: 37,422,207 (GRCm39) |
|
probably benign |
Het |
| Kcnj14 |
C |
G |
7: 45,468,812 (GRCm39) |
R231P |
probably damaging |
Het |
| Lamc2 |
A |
T |
1: 153,020,399 (GRCm39) |
C382* |
probably null |
Het |
| Marveld3 |
T |
C |
8: 110,688,609 (GRCm39) |
E44G |
possibly damaging |
Het |
| Mettl17 |
T |
C |
14: 52,128,848 (GRCm39) |
F373L |
possibly damaging |
Het |
| Morc3 |
T |
A |
16: 93,657,398 (GRCm39) |
L374Q |
probably damaging |
Het |
| Muc16 |
C |
T |
9: 18,548,594 (GRCm39) |
D5900N |
probably benign |
Het |
| Myo15a |
A |
G |
11: 60,368,088 (GRCm39) |
N283D |
probably benign |
Het |
| Ncapg2 |
T |
G |
12: 116,379,098 (GRCm39) |
D197E |
possibly damaging |
Het |
| Nipbl |
T |
C |
15: 8,332,904 (GRCm39) |
T2240A |
probably benign |
Het |
| Nrip1 |
A |
C |
16: 76,088,236 (GRCm39) |
V1107G |
possibly damaging |
Het |
| Or13a19 |
T |
C |
7: 139,902,647 (GRCm39) |
F12L |
probably damaging |
Het |
| Or4d5 |
G |
A |
9: 40,012,636 (GRCm39) |
T50I |
probably benign |
Het |
| Or4f52 |
C |
A |
2: 111,061,834 (GRCm39) |
M101I |
probably benign |
Het |
| Pcdhb11 |
T |
A |
18: 37,555,549 (GRCm39) |
I293K |
probably damaging |
Het |
| Pcsk5 |
G |
T |
19: 17,432,138 (GRCm39) |
H1492Q |
probably benign |
Het |
| Pdcd4 |
T |
A |
19: 53,899,405 (GRCm39) |
Y131* |
probably null |
Het |
| Pdf |
T |
A |
8: 107,773,796 (GRCm39) |
M216L |
probably damaging |
Het |
| Pira13 |
A |
T |
7: 3,828,188 (GRCm39) |
S40T |
|
Het |
| Plch1 |
T |
C |
3: 63,778,106 (GRCm39) |
H17R |
possibly damaging |
Het |
| Prkdc |
T |
G |
16: 15,626,068 (GRCm39) |
S3365A |
probably benign |
Het |
| Rab3c |
T |
C |
13: 110,397,135 (GRCm39) |
T44A |
probably damaging |
Het |
| Rad17 |
T |
C |
13: 100,765,998 (GRCm39) |
T377A |
probably benign |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Rnf215 |
T |
G |
11: 4,085,959 (GRCm39) |
|
probably null |
Het |
| Sec31b |
G |
A |
19: 44,507,620 (GRCm39) |
T808I |
probably benign |
Het |
| Selenbp1 |
A |
T |
3: 94,844,601 (GRCm39) |
D86V |
probably damaging |
Het |
| Smurf2 |
G |
T |
11: 106,743,322 (GRCm39) |
Y241* |
probably null |
Het |
| Spint1 |
T |
C |
2: 119,079,286 (GRCm39) |
V456A |
possibly damaging |
Het |
| Spmap2 |
G |
T |
10: 79,419,581 (GRCm39) |
N240K |
possibly damaging |
Het |
| Stx5a |
A |
T |
19: 8,725,924 (GRCm39) |
I175F |
probably damaging |
Het |
| Tenm4 |
C |
T |
7: 96,555,148 (GRCm39) |
P2618S |
probably benign |
Het |
| Tfb1m |
T |
C |
17: 3,569,927 (GRCm39) |
E313G |
probably benign |
Het |
| Thrb |
A |
G |
14: 17,963,082 (GRCm38) |
D15G |
probably benign |
Het |
| Tln2 |
T |
C |
9: 67,165,555 (GRCm39) |
K1045R |
probably damaging |
Het |
| Tmx2 |
T |
C |
2: 84,505,745 (GRCm39) |
|
probably benign |
Het |
| Trabd |
T |
C |
15: 88,969,152 (GRCm39) |
I192T |
probably damaging |
Het |
| Try5 |
T |
A |
6: 41,288,637 (GRCm39) |
D194V |
probably damaging |
Het |
| Ttc21a |
A |
G |
9: 119,796,371 (GRCm39) |
N1263S |
probably benign |
Het |
| Ttll13 |
T |
C |
7: 79,902,923 (GRCm39) |
I197T |
probably damaging |
Het |
| Virma |
T |
C |
4: 11,540,643 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
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'- AATGTGAGTAGGCGTTCCTCC -3'
(R):5'- GGCCATCGGGTCATATTTTACG -3'
Sequencing Primer
(F):5'- GTAGGCGTTCCTCCAAAAATGGC -3'
(R):5'- GCCATCGGGTCATATTTTACGTCATG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation