Incidental Mutation 'R1430:Ggta1'
| ID |
161469 |
| 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 |
039486-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1430 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
35290191-35353243 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35298029 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 118
(D118G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115112
(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: D152G
PolyPhen 2
Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000049408
Gene: ENSMUSG00000035778
AA Change: D152G
| 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: D118G
PolyPhen 2
Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000078393
Gene: ENSMUSG00000035778
AA Change: D118G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_6
|
34 |
370 |
5.5e-177 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102794
AA Change: D152G
PolyPhen 2
Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000099858
Gene: ENSMUSG00000035778
AA Change: D152G
| 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: D130G
PolyPhen 2
Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000108625
Gene: ENSMUSG00000035778
AA Change: D130G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_6
|
45 |
382 |
3.6e-177 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113002
AA Change: D140G
PolyPhen 2
Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000108626
Gene: ENSMUSG00000035778
AA Change: D140G
| 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: D118G
PolyPhen 2
Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000115112
Gene: ENSMUSG00000035778
AA Change: D118G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_6
|
34 |
140 |
1.5e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164889
AA Change: D140G
PolyPhen 2
Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000132408
Gene: ENSMUSG00000035778
AA Change: D140G
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.9%
|
| Validation Efficiency |
100% (55/55) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam3 |
T |
A |
8: 25,204,287 (GRCm39) |
|
probably benign |
Het |
| Aoc2 |
A |
G |
11: 101,217,321 (GRCm39) |
Y468C |
probably damaging |
Het |
| Cdyl2 |
A |
G |
8: 117,306,056 (GRCm39) |
|
probably benign |
Het |
| Cfh |
A |
G |
1: 140,030,436 (GRCm39) |
|
probably benign |
Het |
| Cyp2j9 |
G |
T |
4: 96,472,201 (GRCm39) |
|
probably benign |
Het |
| Dapk1 |
T |
G |
13: 60,901,957 (GRCm39) |
F929V |
probably benign |
Het |
| Dhx9 |
A |
T |
1: 153,359,493 (GRCm39) |
M35K |
probably benign |
Het |
| Dnah5 |
G |
A |
15: 28,346,003 (GRCm39) |
E2448K |
probably benign |
Het |
| Doc2b |
A |
T |
11: 75,670,981 (GRCm39) |
C217S |
possibly damaging |
Het |
| Dock11 |
A |
G |
X: 35,333,565 (GRCm39) |
I2010V |
probably benign |
Het |
| Dram1 |
T |
C |
10: 88,160,641 (GRCm39) |
T227A |
possibly damaging |
Het |
| Eppin |
G |
A |
2: 164,431,323 (GRCm39) |
T101M |
probably damaging |
Het |
| F13a1 |
T |
C |
13: 37,082,105 (GRCm39) |
D533G |
probably damaging |
Het |
| Fmo1 |
C |
A |
1: 162,667,293 (GRCm39) |
R174L |
probably damaging |
Het |
| Fsip2 |
C |
A |
2: 82,828,407 (GRCm39) |
L6735I |
possibly damaging |
Het |
| Gab1 |
G |
T |
8: 81,515,241 (GRCm39) |
T359K |
probably benign |
Het |
| Gramd1a |
A |
G |
7: 30,832,211 (GRCm39) |
S609P |
probably damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Lama1 |
A |
G |
17: 68,089,150 (GRCm39) |
Y1607C |
possibly damaging |
Het |
| Lrrc24 |
G |
T |
15: 76,607,992 (GRCm39) |
|
probably null |
Het |
| Mak |
C |
A |
13: 41,223,760 (GRCm39) |
|
probably benign |
Het |
| Megf8 |
G |
A |
7: 25,063,768 (GRCm39) |
R2708Q |
possibly damaging |
Het |
| Mettl24 |
T |
C |
10: 40,613,791 (GRCm39) |
C177R |
probably damaging |
Het |
| Mgam |
G |
C |
6: 40,733,305 (GRCm39) |
E812D |
probably benign |
Het |
| Mroh8 |
T |
C |
2: 157,111,445 (GRCm39) |
R170G |
possibly damaging |
Het |
| Msn |
G |
A |
X: 95,196,325 (GRCm39) |
V130I |
probably benign |
Het |
| Ncoa4 |
G |
A |
14: 31,898,679 (GRCm39) |
V500I |
probably benign |
Het |
| Or2aj5 |
A |
G |
16: 19,424,752 (GRCm39) |
L222P |
probably damaging |
Het |
| Or2y1b |
A |
G |
11: 49,208,928 (GRCm39) |
|
probably null |
Het |
| Or5an6 |
C |
T |
19: 12,371,801 (GRCm39) |
T58I |
probably benign |
Het |
| Or8k3b |
T |
C |
2: 86,520,866 (GRCm39) |
Y151C |
possibly damaging |
Het |
| Ppm1h |
T |
C |
10: 122,693,004 (GRCm39) |
S302P |
probably damaging |
Het |
| Prkce |
T |
A |
17: 86,866,565 (GRCm39) |
|
probably benign |
Het |
| Psenen |
T |
C |
7: 30,261,815 (GRCm39) |
I34V |
probably benign |
Het |
| Rbl1 |
T |
C |
2: 157,011,826 (GRCm39) |
T710A |
probably benign |
Het |
| Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
| Slc1a5 |
A |
G |
7: 16,516,328 (GRCm39) |
D168G |
probably benign |
Het |
| Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Syce1 |
A |
T |
7: 140,359,351 (GRCm39) |
|
probably benign |
Het |
| Tbc1d23 |
G |
T |
16: 57,034,573 (GRCm39) |
D75E |
probably damaging |
Het |
| Tbk1 |
A |
G |
10: 121,395,839 (GRCm39) |
V418A |
probably benign |
Het |
| Tmem132e |
T |
C |
11: 82,329,122 (GRCm39) |
V467A |
probably damaging |
Het |
| Tmem241 |
T |
C |
18: 12,126,651 (GRCm39) |
D144G |
probably benign |
Het |
| Tsc2 |
A |
G |
17: 24,817,997 (GRCm39) |
|
probably null |
Het |
| Ubxn4 |
T |
A |
1: 128,202,617 (GRCm39) |
F420I |
probably benign |
Het |
| Usp34 |
A |
G |
11: 23,409,151 (GRCm39) |
T2645A |
probably damaging |
Het |
| Utp14b |
A |
G |
1: 78,644,111 (GRCm39) |
K670E |
probably benign |
Het |
| Zfp407 |
C |
T |
18: 84,227,580 (GRCm39) |
V2010M |
probably benign |
Het |
| Zfp879 |
A |
G |
11: 50,724,784 (GRCm39) |
F91L |
probably benign |
Het |
| Zfyve26 |
A |
G |
12: 79,329,591 (GRCm39) |
S532P |
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 |
|
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 |
|
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'- GGGAAGTCTACTGTCAAATTCCAGCC -3'
(R):5'- CAACTTGTATTTCACCCATCCAGGACC -3'
Sequencing Primer
(F):5'- GTCAAATTCCAGCCTTTGTGG -3'
(R):5'- CACTCTATTCCAAGAGTTGGAGG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation