Incidental Mutation 'R9721:Ggta1'
| ID |
730769 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ggta1
|
| Ensembl Gene |
ENSMUSG00000035778 |
| Gene Name |
glycoprotein galactosyltransferase alpha 1, 3 |
| Synonyms |
Ggta, glycoprotein alpha galactosyl transferase 1, GALT, Gal, Ggta-1, alpha3GalT, alpha Gal |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9721 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
35400179-35463231 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 35413406 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 91
(D91E)
|
| 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
AA Change: D103E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000049408
Gene: ENSMUSG00000035778
AA Change: D103E
| 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: D69E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000078393
Gene: ENSMUSG00000035778
AA Change: D69E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_6
|
34 |
370 |
5.5e-177 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102794
AA Change: D103E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099858
Gene: ENSMUSG00000035778
AA Change: D103E
| 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: D81E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000108625
Gene: ENSMUSG00000035778
AA Change: D81E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_6
|
45 |
382 |
3.6e-177 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113002
AA Change: D91E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000108626
Gene: ENSMUSG00000035778
AA Change: D91E
| 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
AA Change: D69E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000115112
Gene: ENSMUSG00000035778
AA Change: D69E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_6
|
34 |
140 |
1.5e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164889
AA Change: D91E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000132408
Gene: ENSMUSG00000035778
AA Change: D91E
| 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: 99.1%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
A |
T |
3: 124,419,283 (GRCm38) |
Y120N |
probably benign |
Het |
| AAdacl4fm3 |
A |
T |
4: 144,703,372 (GRCm38) |
V349D |
possibly damaging |
Het |
| Alox8 |
T |
A |
11: 69,197,085 (GRCm38) |
H131L |
probably benign |
Het |
| Atp13a1 |
A |
G |
8: 69,799,437 (GRCm38) |
E588G |
probably damaging |
Het |
| AU040320 |
G |
A |
4: 126,839,648 (GRCm38) |
V654M |
probably damaging |
Het |
| Bicra |
A |
G |
7: 15,979,176 (GRCm38) |
L982P |
probably damaging |
Het |
| Cdh11 |
A |
T |
8: 102,679,625 (GRCm38) |
V72E |
probably damaging |
Het |
| Cfap65 |
T |
C |
1: 74,919,342 (GRCm38) |
T869A |
probably benign |
Het |
| Cplane1 |
A |
G |
15: 8,225,409 (GRCm38) |
T27A |
unknown |
Het |
| Ddx19a |
A |
G |
8: 110,978,475 (GRCm38) |
F338S |
probably damaging |
Het |
| Dhrs7c |
T |
A |
11: 67,815,078 (GRCm38) |
V219E |
probably damaging |
Het |
| Dhx33 |
A |
G |
11: 71,001,598 (GRCm38) |
V115A |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,192,785 (GRCm38) |
D3153G |
probably benign |
Het |
| Ecpas |
A |
T |
4: 58,850,938 (GRCm38) |
S412T |
probably benign |
Het |
| Eif5b |
T |
C |
1: 38,037,659 (GRCm38) |
|
probably null |
Het |
| Ep300 |
A |
G |
15: 81,608,315 (GRCm38) |
N284S |
unknown |
Het |
| Fam83a |
A |
G |
15: 57,986,117 (GRCm38) |
N19S |
probably benign |
Het |
| Fgd5 |
A |
T |
6: 91,988,297 (GRCm38) |
T504S |
probably benign |
Het |
| Flt4 |
G |
A |
11: 49,644,433 (GRCm38) |
|
probably null |
Het |
| Gls |
A |
G |
1: 52,212,268 (GRCm38) |
V310A |
probably damaging |
Het |
| Gm5414 |
A |
T |
15: 101,628,147 (GRCm38) |
C14* |
probably null |
Het |
| Gm9887 |
C |
G |
12: 69,371,855 (GRCm38) |
A202P |
unknown |
Het |
| Ifi214 |
T |
C |
1: 173,527,913 (GRCm38) |
T110A |
possibly damaging |
Het |
| Il4i1 |
A |
G |
7: 44,839,689 (GRCm38) |
R293G |
probably benign |
Het |
| Itpr1 |
A |
T |
6: 108,406,102 (GRCm38) |
T1464S |
probably damaging |
Het |
| Kif18a |
T |
C |
2: 109,293,055 (GRCm38) |
S225P |
probably damaging |
Het |
| Kif21a |
A |
T |
15: 90,971,127 (GRCm38) |
I678N |
probably damaging |
Het |
| Klf11 |
T |
A |
12: 24,660,241 (GRCm38) |
D429E |
probably damaging |
Het |
| Kntc1 |
A |
G |
5: 123,801,885 (GRCm38) |
T1581A |
probably benign |
Het |
| Lama2 |
T |
C |
10: 27,467,342 (GRCm38) |
N45D |
possibly damaging |
Het |
| Lrrk1 |
T |
C |
7: 66,274,875 (GRCm38) |
I1319V |
probably damaging |
Het |
| Ltbr |
G |
A |
6: 125,307,385 (GRCm38) |
R365W |
probably damaging |
Het |
| Malrd1 |
C |
T |
2: 15,696,827 (GRCm38) |
T751I |
unknown |
Het |
| Matcap1 |
A |
T |
8: 105,283,188 (GRCm38) |
D376E |
probably benign |
Het |
| Mgat5b |
T |
C |
11: 116,966,769 (GRCm38) |
L363P |
probably damaging |
Het |
| Mphosph9 |
A |
T |
5: 124,298,675 (GRCm38) |
S535R |
possibly damaging |
Het |
| Nckap5 |
C |
T |
1: 126,027,280 (GRCm38) |
D512N |
probably damaging |
Het |
| Ngef |
T |
A |
1: 87,479,135 (GRCm38) |
D637V |
probably damaging |
Het |
| Nup93 |
T |
C |
8: 94,303,685 (GRCm38) |
Y391H |
probably damaging |
Het |
| Or10j7 |
C |
A |
1: 173,184,348 (GRCm38) |
V29F |
probably benign |
Het |
| Or4c110 |
T |
C |
2: 89,001,716 (GRCm38) |
T191A |
|
Het |
| Or5b3 |
A |
T |
19: 13,410,970 (GRCm38) |
T134S |
probably benign |
Het |
| Pcdhb4 |
C |
A |
18: 37,309,852 (GRCm38) |
D738E |
possibly damaging |
Het |
| Pfpl |
G |
C |
19: 12,428,933 (GRCm38) |
E183Q |
probably damaging |
Het |
| Phactr3 |
G |
A |
2: 178,256,250 (GRCm38) |
E86K |
probably damaging |
Het |
| Psd |
C |
T |
19: 46,323,189 (GRCm38) |
D351N |
probably benign |
Het |
| Pzp |
A |
G |
6: 128,495,191 (GRCm38) |
|
probably null |
Het |
| Rerg |
T |
A |
6: 137,056,417 (GRCm38) |
K106* |
probably null |
Het |
| Samd9l |
T |
C |
6: 3,375,854 (GRCm38) |
E469G |
possibly damaging |
Het |
| Smok2b |
C |
A |
17: 13,234,978 (GRCm38) |
Y8* |
probably null |
Het |
| Spata31e3 |
T |
C |
13: 50,246,652 (GRCm38) |
Y546C |
possibly damaging |
Het |
| Spn |
A |
G |
7: 127,136,265 (GRCm38) |
S357P |
probably benign |
Het |
| Tek |
T |
G |
4: 94,804,302 (GRCm38) |
W216G |
possibly damaging |
Het |
| Trpm3 |
A |
T |
19: 22,889,398 (GRCm38) |
H531L |
probably benign |
Het |
| Trpm6 |
A |
G |
19: 18,829,972 (GRCm38) |
M1027V |
probably benign |
Het |
| Tsc2 |
G |
A |
17: 24,599,642 (GRCm38) |
R1408* |
probably null |
Het |
| Tut4 |
T |
A |
4: 108,555,581 (GRCm38) |
M1493K |
probably benign |
Het |
| Unc13b |
A |
G |
4: 43,101,869 (GRCm38) |
N155D |
probably benign |
Het |
| Vmn1r52 |
G |
A |
6: 90,179,026 (GRCm38) |
C104Y |
probably damaging |
Het |
| Xylt1 |
A |
T |
7: 117,549,020 (GRCm38) |
E273V |
probably damaging |
Het |
| Zc3h4 |
C |
A |
7: 16,434,845 (GRCm38) |
Q1035K |
unknown |
Het |
| Zfp14 |
A |
T |
7: 30,039,184 (GRCm38) |
S125R |
probably benign |
Het |
|
| Other mutations in Ggta1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01366:Ggta1
|
APN |
2 |
35,402,450 (GRCm38) |
nonsense |
probably null |
|
|
IGL01903:Ggta1
|
APN |
2 |
35,402,557 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
IGL02796:Ggta1
|
APN |
2 |
35,413,317 (GRCm38) |
splice site |
probably benign |
|
|
IGL02799:Ggta1
|
UTSW |
2 |
35,422,199 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0383:Ggta1
|
UTSW |
2 |
35,402,404 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1430:Ggta1
|
UTSW |
2 |
35,408,017 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R1667:Ggta1
|
UTSW |
2 |
35,414,283 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R1672:Ggta1
|
UTSW |
2 |
35,402,133 (GRCm38) |
nonsense |
probably null |
|
|
R2246:Ggta1
|
UTSW |
2 |
35,402,109 (GRCm38) |
makesense |
probably null |
|
|
R3149:Ggta1
|
UTSW |
2 |
35,402,623 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3683:Ggta1
|
UTSW |
2 |
35,407,988 (GRCm38) |
missense |
probably benign |
0.39 |
|
R3684:Ggta1
|
UTSW |
2 |
35,407,988 (GRCm38) |
missense |
probably benign |
0.39 |
|
R3685:Ggta1
|
UTSW |
2 |
35,407,988 (GRCm38) |
missense |
probably benign |
0.39 |
|
R4812:Ggta1
|
UTSW |
2 |
35,402,723 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4856:Ggta1
|
UTSW |
2 |
35,402,791 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R5079:Ggta1
|
UTSW |
2 |
35,422,237 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5756:Ggta1
|
UTSW |
2 |
35,402,383 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6279:Ggta1
|
UTSW |
2 |
35,407,994 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6651:Ggta1
|
UTSW |
2 |
35,402,294 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6967:Ggta1
|
UTSW |
2 |
35,402,722 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R7152:Ggta1
|
UTSW |
2 |
35,402,699 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7529:Ggta1
|
UTSW |
2 |
35,414,244 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7534:Ggta1
|
UTSW |
2 |
35,402,428 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7557:Ggta1
|
UTSW |
2 |
35,402,536 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7610:Ggta1
|
UTSW |
2 |
35,414,218 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8153:Ggta1
|
UTSW |
2 |
35,423,321 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R8195:Ggta1
|
UTSW |
2 |
35,422,267 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8447:Ggta1
|
UTSW |
2 |
35,402,561 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8739:Ggta1
|
UTSW |
2 |
35,402,560 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9122:Ggta1
|
UTSW |
2 |
35,413,324 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9470:Ggta1
|
UTSW |
2 |
35,402,755 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9567:Ggta1
|
UTSW |
2 |
35,423,321 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R9720:Ggta1
|
UTSW |
2 |
35,413,406 (GRCm38) |
missense |
probably benign |
|
|
R9723:Ggta1
|
UTSW |
2 |
35,413,406 (GRCm38) |
missense |
probably benign |
|
|
R9726:Ggta1
|
UTSW |
2 |
35,402,410 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0010:Ggta1
|
UTSW |
2 |
35,402,719 (GRCm38) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCATTGAGGAAGGTCTACCCAC -3'
(R):5'- TACCTTTTATCAGAAGTGTGTAGGG -3'
Sequencing Primer
(F):5'- TGAGGAAGGTCTACCCACTCCTG -3'
(R):5'- GATCAAGGGGTCAGTGCC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation