Incidental Mutation 'R6651:Ggta1'
| ID |
527768 |
| 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 |
044772-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6651 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
35290191-35353243 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 35292306 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 334
(H334N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132408
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044255]
[ENSMUST00000079424]
[ENSMUST00000102794]
[ENSMUST00000113001]
[ENSMUST00000113002]
[ENSMUST00000164889]
|
| AlphaFold |
P23336 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044255
AA Change: H346N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000049408
Gene: ENSMUSG00000035778
AA Change: H346N
| 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: H312N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000078393
Gene: ENSMUSG00000035778
AA Change: H312N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_6
|
34 |
370 |
5.5e-177 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102794
AA Change: H346N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000099858
Gene: ENSMUSG00000035778
AA Change: H346N
| 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: H324N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000108625
Gene: ENSMUSG00000035778
AA Change: H324N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_6
|
45 |
382 |
3.6e-177 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113002
AA Change: H334N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000108626
Gene: ENSMUSG00000035778
AA Change: H334N
| 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: ENSMUST00000164889
AA Change: H334N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000132408
Gene: ENSMUSG00000035778
AA Change: H334N
| 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 |
0.0846 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.7%
|
| Validation Efficiency |
98% (50/51) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406B18Rik |
A |
C |
7: 43,147,496 (GRCm39) |
S198A |
possibly damaging |
Het |
| Adamts15 |
A |
T |
9: 30,833,448 (GRCm39) |
I29N |
probably damaging |
Het |
| Ankrd61 |
A |
T |
5: 143,830,438 (GRCm39) |
I33N |
probably damaging |
Het |
| Arl6ip1 |
C |
T |
7: 117,728,708 (GRCm39) |
R7H |
probably benign |
Het |
| Atp8a2 |
A |
T |
14: 60,011,470 (GRCm39) |
D946E |
probably benign |
Het |
| Cc2d2b |
A |
T |
19: 40,766,573 (GRCm39) |
Q114L |
probably damaging |
Het |
| Ccdc163 |
T |
A |
4: 116,566,261 (GRCm39) |
S16R |
possibly damaging |
Het |
| Chil6 |
C |
T |
3: 106,311,576 (GRCm39) |
C68Y |
probably damaging |
Het |
| Cngb3 |
G |
T |
4: 19,375,231 (GRCm39) |
R287L |
probably benign |
Het |
| Crem |
C |
T |
18: 3,325,428 (GRCm39) |
R16H |
probably benign |
Het |
| Cyp4f16 |
C |
T |
17: 32,763,118 (GRCm39) |
R188C |
probably benign |
Het |
| Dap |
A |
G |
15: 31,273,353 (GRCm39) |
D46G |
probably damaging |
Het |
| Dnah7c |
C |
A |
1: 46,688,500 (GRCm39) |
T1890K |
probably benign |
Het |
| Dnah7c |
A |
G |
1: 46,688,511 (GRCm39) |
S1894G |
probably benign |
Het |
| Enam |
T |
C |
5: 88,650,776 (GRCm39) |
Y687H |
probably damaging |
Het |
| Fzd4 |
A |
T |
7: 89,054,010 (GRCm39) |
D39V |
possibly damaging |
Het |
| Golga3 |
C |
T |
5: 110,365,996 (GRCm39) |
R1254* |
probably null |
Het |
| Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
| Helz2 |
C |
T |
2: 180,881,350 (GRCm39) |
W377* |
probably null |
Het |
| Hfm1 |
T |
C |
5: 106,995,553 (GRCm39) |
D1286G |
probably benign |
Het |
| Hhatl |
T |
C |
9: 121,613,768 (GRCm39) |
R425G |
probably damaging |
Het |
| Hivep3 |
G |
A |
4: 119,980,146 (GRCm39) |
R1728H |
probably damaging |
Het |
| Hyal1 |
A |
G |
9: 107,456,570 (GRCm39) |
Y419C |
probably damaging |
Het |
| Ighv8-12 |
A |
T |
12: 115,611,644 (GRCm39) |
D84E |
possibly damaging |
Het |
| Itln1 |
A |
G |
1: 171,345,940 (GRCm39) |
F271L |
possibly damaging |
Het |
| Klra7 |
C |
A |
6: 130,206,908 (GRCm39) |
L64F |
probably benign |
Het |
| Kmt2a |
A |
T |
9: 44,740,108 (GRCm39) |
C1878* |
probably null |
Het |
| Mia2 |
C |
A |
12: 59,201,148 (GRCm39) |
Q825K |
possibly damaging |
Het |
| Mmp12 |
C |
A |
9: 7,355,345 (GRCm39) |
P294Q |
possibly damaging |
Het |
| Nedd4 |
A |
G |
9: 72,638,553 (GRCm39) |
N480S |
possibly damaging |
Het |
| Or4c12b |
A |
T |
2: 89,647,240 (GRCm39) |
E190V |
probably benign |
Het |
| Or4e5 |
C |
T |
14: 52,728,250 (GRCm39) |
R57Q |
probably benign |
Het |
| Pax6 |
T |
A |
2: 105,516,175 (GRCm39) |
M151K |
probably benign |
Het |
| Pgm2 |
A |
G |
5: 64,269,437 (GRCm39) |
Y508C |
probably benign |
Het |
| Ptpn20 |
T |
C |
14: 33,354,897 (GRCm39) |
F324S |
probably damaging |
Het |
| Recql |
A |
G |
6: 142,310,160 (GRCm39) |
|
probably null |
Het |
| Rerg |
A |
G |
6: 137,033,384 (GRCm39) |
V97A |
probably damaging |
Het |
| Rffl |
C |
A |
11: 82,703,605 (GRCm39) |
C106F |
probably damaging |
Het |
| Scaper |
T |
G |
9: 55,765,788 (GRCm39) |
N499T |
probably benign |
Het |
| Sfxn3 |
G |
A |
19: 45,038,354 (GRCm39) |
|
probably null |
Het |
| Slc36a4 |
A |
G |
9: 15,634,874 (GRCm39) |
S139G |
probably benign |
Het |
| Slco2b1 |
T |
A |
7: 99,316,376 (GRCm39) |
M385L |
probably benign |
Het |
| Smg8 |
T |
C |
11: 86,977,372 (GRCm39) |
T70A |
probably benign |
Het |
| Spats2l |
A |
T |
1: 57,985,336 (GRCm39) |
K463M |
probably damaging |
Het |
| Thbs4 |
T |
C |
13: 92,893,044 (GRCm39) |
I715V |
probably benign |
Het |
| Tmem234 |
T |
A |
4: 129,501,264 (GRCm39) |
M113K |
possibly damaging |
Het |
| Vmn2r10 |
T |
C |
5: 109,143,488 (GRCm39) |
I821V |
probably null |
Het |
| Vmn2r116 |
A |
T |
17: 23,607,805 (GRCm39) |
K458* |
probably null |
Het |
| Vmn2r76 |
T |
A |
7: 85,878,059 (GRCm39) |
N446I |
possibly damaging |
Het |
| Vmn2r95 |
T |
A |
17: 18,660,622 (GRCm39) |
Y345N |
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 |
|
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'- GCCAGAGTAATAGTGTCAAGTTTCC -3'
(R):5'- AACTTCGGGGTGGAAACTCTG -3'
Sequencing Primer
(F):5'- TCCATCACAATTTGAAGTCAGAC -3'
(R):5'- AAACTCTGGGCCAGCTGGTAG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation