Incidental Mutation 'R9470:Ggta1'
| ID |
715401 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9470 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
35290191-35353243 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35292767 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 180
(Y180C)
|
| 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: Y192C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000049408
Gene: ENSMUSG00000035778
AA Change: Y192C
| 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: Y158C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000078393
Gene: ENSMUSG00000035778
AA Change: Y158C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_6
|
34 |
370 |
5.5e-177 |
PFAM |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000099858
Gene: ENSMUSG00000035778
AA Change: Y192C
| 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: Y170C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000108625
Gene: ENSMUSG00000035778
AA Change: Y170C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_6
|
45 |
382 |
3.6e-177 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113002
AA Change: Y180C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108626
Gene: ENSMUSG00000035778
AA Change: Y180C
| 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: Y180C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000132408
Gene: ENSMUSG00000035778
AA Change: Y180C
| 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: 99.5%
- 20x: 98.5%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb2 |
T |
A |
4: 129,903,074 (GRCm39) |
L558Q |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,039,219 (GRCm39) |
D483G |
possibly damaging |
Het |
| Arid1a |
T |
C |
4: 133,413,057 (GRCm39) |
D994G |
unknown |
Het |
| Barx2 |
A |
T |
9: 31,770,044 (GRCm39) |
Y161* |
probably null |
Het |
| Bmp7 |
G |
T |
2: 172,711,960 (GRCm39) |
N421K |
probably damaging |
Het |
| Bod1l |
A |
T |
5: 41,974,439 (GRCm39) |
C2292S |
probably damaging |
Het |
| Ces1c |
C |
T |
8: 93,830,746 (GRCm39) |
|
probably null |
Het |
| Clca3b |
T |
C |
3: 144,543,456 (GRCm39) |
T458A |
probably damaging |
Het |
| Cntnap5a |
T |
G |
1: 116,374,344 (GRCm39) |
V952G |
probably damaging |
Het |
| Cyp2c54 |
T |
C |
19: 40,060,888 (GRCm39) |
E85G |
probably damaging |
Het |
| Dmxl1 |
A |
G |
18: 50,026,777 (GRCm39) |
K1962E |
possibly damaging |
Het |
| Dnajc13 |
A |
G |
9: 104,107,919 (GRCm39) |
V254A |
probably benign |
Het |
| Dysf |
A |
T |
6: 84,090,352 (GRCm39) |
I955F |
possibly damaging |
Het |
| Fam184b |
A |
G |
5: 45,741,854 (GRCm39) |
S126P |
probably damaging |
Het |
| Gapvd1 |
A |
T |
2: 34,602,280 (GRCm39) |
D622E |
possibly damaging |
Het |
| Gpr31b |
A |
G |
17: 13,270,845 (GRCm39) |
V108A |
probably damaging |
Het |
| Kcnu1 |
A |
G |
8: 26,409,660 (GRCm39) |
Y861C |
probably benign |
Het |
| Mov10l1 |
T |
C |
15: 88,904,518 (GRCm39) |
L799P |
probably damaging |
Het |
| Nkx1-1 |
G |
A |
5: 33,591,275 (GRCm39) |
P16S |
unknown |
Het |
| Nos1 |
T |
C |
5: 118,064,560 (GRCm39) |
L997P |
probably damaging |
Het |
| Noxred1 |
A |
G |
12: 87,269,829 (GRCm39) |
Y301H |
possibly damaging |
Het |
| Nup50l |
T |
C |
6: 96,142,474 (GRCm39) |
H190R |
possibly damaging |
Het |
| Or11g1 |
T |
C |
14: 50,651,235 (GRCm39) |
V78A |
possibly damaging |
Het |
| Or52j3 |
G |
A |
7: 102,836,270 (GRCm39) |
R154H |
probably benign |
Het |
| Or5ak4 |
A |
T |
2: 85,161,673 (GRCm39) |
S190T |
probably damaging |
Het |
| Or5b113 |
A |
G |
19: 13,342,115 (GRCm39) |
N41S |
probably damaging |
Het |
| Or6b6 |
A |
T |
7: 106,571,461 (GRCm39) |
I30N |
probably benign |
Het |
| Paqr7 |
T |
C |
4: 134,234,914 (GRCm39) |
V257A |
probably benign |
Het |
| Parp8 |
A |
T |
13: 117,031,292 (GRCm39) |
S473R |
probably benign |
Het |
| Pcdhb14 |
A |
T |
18: 37,581,076 (GRCm39) |
T61S |
probably benign |
Het |
| Pde11a |
G |
A |
2: 75,821,612 (GRCm39) |
A889V |
probably benign |
Het |
| Potefam3e |
T |
A |
8: 19,797,809 (GRCm39) |
S292T |
probably benign |
Het |
| Scart2 |
A |
G |
7: 139,827,345 (GRCm39) |
T18A |
probably benign |
Het |
| Sertad1 |
T |
C |
7: 27,188,871 (GRCm39) |
L64P |
probably damaging |
Het |
| Tmem156 |
C |
T |
5: 65,237,531 (GRCm39) |
R43K |
probably damaging |
Het |
| Tmem82 |
T |
A |
4: 141,342,341 (GRCm39) |
D287V |
probably damaging |
Het |
| Traf1 |
A |
G |
2: 34,833,974 (GRCm39) |
F381L |
probably benign |
Het |
| Trim44 |
T |
C |
2: 102,230,651 (GRCm39) |
S127G |
unknown |
Het |
| Tyw1 |
G |
A |
5: 130,298,065 (GRCm39) |
R202Q |
probably damaging |
Het |
| Ubap2 |
G |
A |
4: 41,195,434 (GRCm39) |
A1068V |
possibly damaging |
Het |
| Vmn1r47 |
T |
G |
6: 89,999,777 (GRCm39) |
M303R |
probably null |
Het |
| Zc3h12d |
T |
C |
10: 7,743,321 (GRCm39) |
S364P |
possibly damaging |
Het |
| Zdbf2 |
T |
A |
1: 63,344,784 (GRCm39) |
N1054K |
possibly damaging |
Het |
| Zpbp |
A |
T |
11: 11,358,541 (GRCm39) |
I242N |
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 |
|
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 |
|
|
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'- TCCACGTCCATGCAGAAGAG -3'
(R):5'- TGACCAGCTAGTGTCGAGTG -3'
Sequencing Primer
(F):5'- AAGTCGACCTCGTGCTGGATG -3'
(R):5'- ACCAGCTAGTGTCGAGTGGTATG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation