Incidental Mutation 'R7534:Ggta1'
ID |
583438 |
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 |
045606-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7534 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
35290191-35353243 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 35292440 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 289
(R289Q)
|
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: R301Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000049408 Gene: ENSMUSG00000035778 AA Change: R301Q
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: R267Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000078393 Gene: ENSMUSG00000035778 AA Change: R267Q
Domain | Start | End | E-Value | Type |
Pfam:Glyco_transf_6
|
34 |
370 |
5.5e-177 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000102794
AA Change: R301Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099858 Gene: ENSMUSG00000035778 AA Change: R301Q
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: R279Q
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000108625 Gene: ENSMUSG00000035778 AA Change: R279Q
Domain | Start | End | E-Value | Type |
Pfam:Glyco_transf_6
|
45 |
382 |
3.6e-177 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113002
AA Change: R289Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000108626 Gene: ENSMUSG00000035778 AA Change: R289Q
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: R289Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000132408 Gene: ENSMUSG00000035778 AA Change: R289Q
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (48/48) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aif1 |
A |
C |
17: 35,390,390 (GRCm39) |
M120R |
possibly damaging |
Het |
Ank2 |
T |
C |
3: 126,727,982 (GRCm39) |
|
probably null |
Het |
Ankrd11 |
A |
T |
8: 123,621,149 (GRCm39) |
I901N |
probably damaging |
Het |
Apc |
T |
C |
18: 34,450,015 (GRCm39) |
S2304P |
probably damaging |
Het |
AW551984 |
A |
T |
9: 39,502,777 (GRCm39) |
C632S |
probably benign |
Het |
Bicra |
T |
C |
7: 15,705,860 (GRCm39) |
N1527S |
probably damaging |
Het |
Cacna1d |
A |
G |
14: 29,801,319 (GRCm39) |
L1363P |
probably damaging |
Het |
Cacna1g |
G |
A |
11: 94,301,904 (GRCm39) |
P2037S |
probably benign |
Het |
Cdc27 |
A |
G |
11: 104,399,240 (GRCm39) |
L724S |
probably damaging |
Het |
Cttnbp2 |
C |
T |
6: 18,420,764 (GRCm39) |
|
probably null |
Het |
Dchs1 |
G |
A |
7: 105,421,580 (GRCm39) |
A280V |
probably benign |
Het |
Dclk3 |
G |
A |
9: 111,297,286 (GRCm39) |
G277R |
probably benign |
Het |
Ddr1 |
A |
G |
17: 35,993,514 (GRCm39) |
|
probably null |
Het |
Dnah7c |
A |
C |
1: 46,809,227 (GRCm39) |
D3515A |
probably damaging |
Het |
Elovl4 |
G |
A |
9: 83,672,172 (GRCm39) |
T49M |
probably damaging |
Het |
Fam13b |
A |
T |
18: 34,631,060 (GRCm39) |
F40I |
probably damaging |
Het |
Fancd2os |
T |
C |
6: 113,574,601 (GRCm39) |
H135R |
probably benign |
Het |
Fer1l6 |
A |
G |
15: 58,509,875 (GRCm39) |
I1446V |
probably damaging |
Het |
Fyb2 |
T |
A |
4: 104,856,545 (GRCm39) |
Y584* |
probably null |
Het |
Galnt16 |
A |
T |
12: 80,643,909 (GRCm39) |
L442F |
probably damaging |
Het |
Garem1 |
T |
A |
18: 21,432,973 (GRCm39) |
|
probably benign |
Het |
Gm11564 |
T |
C |
11: 99,706,347 (GRCm39) |
T28A |
unknown |
Het |
Hcn1 |
A |
G |
13: 118,111,961 (GRCm39) |
T642A |
unknown |
Het |
Hhat |
A |
T |
1: 192,408,612 (GRCm39) |
L173H |
probably damaging |
Het |
Hook1 |
T |
G |
4: 95,905,834 (GRCm39) |
I585S |
probably benign |
Het |
Ighg1 |
A |
T |
12: 113,293,349 (GRCm39) |
S114T |
|
Het |
Kmt2d |
G |
A |
15: 98,749,899 (GRCm39) |
P2598L |
unknown |
Het |
Macc1 |
A |
T |
12: 119,411,254 (GRCm39) |
H674L |
probably benign |
Het |
Mypn |
T |
C |
10: 63,028,910 (GRCm39) |
E51G |
probably benign |
Het |
Or2n1 |
T |
A |
17: 38,486,188 (GRCm39) |
M71K |
probably benign |
Het |
Or7e170 |
A |
G |
9: 19,795,472 (GRCm39) |
V43A |
probably benign |
Het |
Or9g3 |
A |
C |
2: 85,589,803 (GRCm39) |
L306V |
probably benign |
Het |
Pnliprp2 |
T |
A |
19: 58,763,574 (GRCm39) |
S408T |
probably benign |
Het |
Ppara |
A |
C |
15: 85,661,927 (GRCm39) |
Y56S |
probably benign |
Het |
Ppp1r1a |
A |
G |
15: 103,440,816 (GRCm39) |
C114R |
probably benign |
Het |
Pycard |
C |
T |
7: 127,592,657 (GRCm39) |
V57I |
probably damaging |
Het |
Relch |
G |
A |
1: 105,668,748 (GRCm39) |
R993Q |
probably benign |
Het |
Rin3 |
T |
G |
12: 102,317,200 (GRCm39) |
Y143D |
unknown |
Het |
Slc12a7 |
A |
G |
13: 73,912,187 (GRCm39) |
|
probably benign |
Het |
Slitrk3 |
C |
T |
3: 72,957,440 (GRCm39) |
R444H |
probably damaging |
Het |
Ttf2 |
C |
T |
3: 100,857,728 (GRCm39) |
|
probably null |
Het |
Ufsp2 |
T |
A |
8: 46,433,361 (GRCm39) |
I25N |
probably benign |
Het |
Uqcrc2 |
A |
G |
7: 120,240,912 (GRCm39) |
T115A |
possibly damaging |
Het |
Vmn2r43 |
T |
A |
7: 8,258,230 (GRCm39) |
R328* |
probably null |
Het |
Vmn2r8 |
T |
A |
5: 108,950,040 (GRCm39) |
Y269F |
possibly damaging |
Het |
Zbtb5 |
T |
C |
4: 44,995,030 (GRCm39) |
Y118C |
probably damaging |
Het |
Zeb1 |
T |
C |
18: 5,766,611 (GRCm39) |
V374A |
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 |
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 |
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'- TTGAGGTGGCTCTCATCATGC -3'
(R):5'- AGTCTTTGAGATCAGGTCTGAGAAG -3'
Sequencing Primer
(F):5'- GCTCTCATCATGCCACTGGG -3'
(R):5'- TGATGCGCATGAAGACCATTG -3'
|
Posted On |
2019-10-17 |