Incidental Mutation 'R9122:Ggta1'
| ID |
692803 |
| 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 |
068924-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9122 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
35290191-35353243 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 35303336 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108626
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044255]
[ENSMUST00000079424]
[ENSMUST00000102794]
[ENSMUST00000113001]
[ENSMUST00000113002]
[ENSMUST00000131745]
[ENSMUST00000164889]
|
| AlphaFold |
P23336 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044255
|
| SMART Domains |
Protein: ENSMUSP00000049408
Gene: ENSMUSG00000035778
| 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
|
| SMART Domains |
Protein: ENSMUSP00000078393
Gene: ENSMUSG00000035778
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_6
|
34 |
370 |
5.5e-177 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102794
|
| SMART Domains |
Protein: ENSMUSP00000099858
Gene: ENSMUSG00000035778
| 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
|
| SMART Domains |
Protein: ENSMUSP00000108625
Gene: ENSMUSG00000035778
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_6
|
45 |
382 |
3.6e-177 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000113002
|
| SMART Domains |
Protein: ENSMUSP00000108626
Gene: ENSMUSG00000035778
| 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: ENSMUST00000131745
|
| SMART Domains |
Protein: ENSMUSP00000115112
Gene: ENSMUSG00000035778
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_6
|
34 |
140 |
1.5e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164889
|
| SMART Domains |
Protein: ENSMUSP00000132408
Gene: ENSMUSG00000035778
| 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 |
0.9756 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.7%
|
| Validation Efficiency |
100% (42/42) |
| 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 |
|---|
| 2310061I04Rik |
C |
G |
17: 36,203,963 (GRCm39) |
S185T |
probably benign |
Het |
| Armh4 |
A |
T |
14: 50,011,459 (GRCm39) |
Y83N |
possibly damaging |
Het |
| Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
| Cacna1d |
C |
A |
14: 29,845,402 (GRCm39) |
R611L |
probably damaging |
Het |
| Cacna1d |
G |
A |
14: 29,852,125 (GRCm39) |
T498I |
probably benign |
Het |
| Cc2d2a |
T |
A |
5: 43,831,081 (GRCm39) |
D57E |
probably null |
Het |
| Cd180 |
C |
A |
13: 102,841,517 (GRCm39) |
L188M |
probably damaging |
Het |
| Chd7 |
A |
G |
4: 8,840,510 (GRCm39) |
K1426R |
possibly damaging |
Het |
| Cntnap5c |
A |
T |
17: 58,411,601 (GRCm39) |
D495V |
probably benign |
Het |
| Col11a1 |
T |
A |
3: 113,907,249 (GRCm39) |
M630K |
unknown |
Het |
| Cxxc1 |
T |
G |
18: 74,350,246 (GRCm39) |
D4E |
probably benign |
Het |
| Ddx31 |
G |
A |
2: 28,748,753 (GRCm39) |
R227Q |
probably damaging |
Het |
| Ddx60 |
A |
G |
8: 62,442,898 (GRCm39) |
M1109V |
probably benign |
Het |
| Dennd5b |
T |
C |
6: 148,908,240 (GRCm39) |
T1018A |
|
Het |
| Efcab3 |
A |
T |
11: 104,856,605 (GRCm39) |
D3840V |
unknown |
Het |
| Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
| Gpr37l1 |
C |
T |
1: 135,095,209 (GRCm39) |
V12I |
probably benign |
Het |
| Grin2a |
A |
T |
16: 9,397,186 (GRCm39) |
V967E |
possibly damaging |
Het |
| H2ac25 |
T |
C |
11: 58,845,667 (GRCm39) |
L35P |
probably damaging |
Het |
| Helz |
A |
G |
11: 107,556,830 (GRCm39) |
T1283A |
probably benign |
Het |
| Ints1 |
A |
G |
5: 139,745,930 (GRCm39) |
M1315T |
possibly damaging |
Het |
| Klri1 |
T |
A |
6: 129,693,995 (GRCm39) |
R31* |
probably null |
Het |
| Nadk |
T |
A |
4: 155,671,275 (GRCm39) |
N226K |
probably benign |
Het |
| Ncapg |
T |
C |
5: 45,846,015 (GRCm39) |
F624S |
possibly damaging |
Het |
| Nxn |
A |
T |
11: 76,169,317 (GRCm39) |
I154N |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,729,998 (GRCm39) |
V2952A |
unknown |
Het |
| Poc1a |
T |
C |
9: 106,162,242 (GRCm39) |
V89A |
probably benign |
Het |
| Pou2f2 |
T |
A |
7: 24,792,302 (GRCm39) |
T518S |
probably benign |
Het |
| Pou5f1 |
C |
T |
17: 35,819,953 (GRCm39) |
T7I |
probably benign |
Het |
| Prss44 |
T |
C |
9: 110,646,362 (GRCm39) |
V363A |
probably damaging |
Het |
| Rhobtb1 |
T |
C |
10: 69,106,653 (GRCm39) |
V468A |
probably damaging |
Het |
| Slc24a1 |
C |
A |
9: 64,834,478 (GRCm39) |
M981I |
probably benign |
Het |
| Tacc1 |
G |
T |
8: 25,659,255 (GRCm39) |
S570R |
probably damaging |
Het |
| Tle3 |
C |
T |
9: 61,314,755 (GRCm39) |
|
probably benign |
Het |
| Tmem135 |
G |
C |
7: 88,797,186 (GRCm39) |
L357V |
probably benign |
Het |
| Trgv1 |
G |
A |
13: 19,524,330 (GRCm39) |
G18E |
probably damaging |
Het |
| Trim23 |
A |
G |
13: 104,317,681 (GRCm39) |
T61A |
probably benign |
Het |
| Tshr |
C |
A |
12: 91,478,737 (GRCm39) |
H195N |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,712,151 (GRCm39) |
S8202P |
unknown |
Het |
| Ufsp2 |
A |
T |
8: 46,438,441 (GRCm39) |
Y248F |
probably benign |
Het |
| Vmn2r12 |
T |
A |
5: 109,240,910 (GRCm39) |
I68L |
probably benign |
Het |
| Wdfy3 |
C |
A |
5: 102,091,831 (GRCm39) |
V503L |
probably damaging |
Het |
| Zfp788 |
A |
T |
7: 41,299,919 (GRCm39) |
K852* |
probably null |
Het |
| Zfp980 |
A |
C |
4: 145,428,834 (GRCm39) |
H521P |
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 |
|
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'- CATTGAGGAAGGTCTACCCAC -3'
(R):5'- TTTCCCTTGAGACACGAGTC -3'
Sequencing Primer
(F):5'- TGAGGAAGGTCTACCCACTCCTG -3'
(R):5'- AGTCATGGAAGCCACCTGTC -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation