Incidental Mutation 'IGL01143:Gal3st4'
| ID |
51192 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gal3st4
|
| Ensembl Gene |
ENSMUSG00000075593 |
| Gene Name |
galactose-3-O-sulfotransferase 4 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
IGL01143
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
138263183-138271102 bp(-) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
A to G
at 138269664 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 1
(M1T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124841
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014089]
[ENSMUST00000100530]
[ENSMUST00000159067]
[ENSMUST00000161665]
[ENSMUST00000161279]
[ENSMUST00000161647]
[ENSMUST00000161827]
[ENSMUST00000161984]
|
| AlphaFold |
Q3V1B8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000014089
|
| SMART Domains |
Protein: ENSMUSP00000014089
Gene: ENSMUSG00000029510
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glypican
|
7 |
560 |
2.8e-186 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000100530
AA Change: M1T
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000098099
Gene: ENSMUSG00000075593
AA Change: M1T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gal-3-0_sulfotr
|
2 |
231 |
1.1e-57 |
PFAM |
|
Pfam:Gal-3-0_sulfotr
|
270 |
463 |
1e-54 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124298
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125662
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159067
|
| SMART Domains |
Protein: ENSMUSP00000125178
Gene: ENSMUSG00000106247
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glypican
|
7 |
250 |
1e-90 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159689
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161055
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000161665
AA Change: M1T
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000124682
Gene: ENSMUSG00000075593
AA Change: M1T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
17 |
39 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000161279
AA Change: M1T
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124841
Gene: ENSMUSG00000075593
AA Change: M1T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gal-3-0_sulfotr
|
2 |
231 |
1.1e-57 |
PFAM |
|
Pfam:Gal-3-0_sulfotr
|
270 |
463 |
1e-54 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162557
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162909
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161647
|
| SMART Domains |
Protein: ENSMUSP00000125084
Gene: ENSMUSG00000075593
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gal-3-0_sulfotr
|
4 |
226 |
5.3e-58 |
PFAM |
|
Pfam:Gal-3-0_sulfotr
|
265 |
458 |
3.8e-55 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161827
|
| SMART Domains |
Protein: ENSMUSP00000124459
Gene: ENSMUSG00000029510
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glypican
|
11 |
566 |
3.1e-199 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161984
|
| SMART Domains |
Protein: ENSMUSP00000137879
Gene: ENSMUSG00000029510
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glypican
|
7 |
342 |
3.7e-134 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the galactose-3-O-sulfotransferase protein family. The product of this gene catalyzes sulfonation by transferring a sulfate to the C-3' position of galactose residues in O-linked glycoproteins. This enzyme is highly specific for core 1 structures, with asialofetuin, Gal-beta-1,3-GalNAc and Gal-beta-1,3 (GlcNAc-beta-1,6)GalNAc being good substrates. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb3 |
A |
T |
10: 85,490,335 (GRCm39) |
|
probably benign |
Het |
| Adgrl4 |
A |
G |
3: 151,205,866 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
A |
C |
13: 81,567,470 (GRCm39) |
D5234E |
probably benign |
Het |
| Bmp7 |
G |
T |
2: 172,721,275 (GRCm39) |
H267N |
probably benign |
Het |
| Ccdc113 |
T |
C |
8: 96,260,888 (GRCm39) |
V30A |
probably damaging |
Het |
| Ccdc185 |
A |
T |
1: 182,575,417 (GRCm39) |
L424Q |
probably damaging |
Het |
| Cep192 |
T |
A |
18: 67,937,445 (GRCm39) |
D58E |
probably damaging |
Het |
| Ces1f |
C |
T |
8: 93,998,458 (GRCm39) |
|
probably null |
Het |
| Chaf1a |
T |
A |
17: 56,370,336 (GRCm39) |
D600E |
possibly damaging |
Het |
| Cndp2 |
A |
G |
18: 84,695,442 (GRCm39) |
|
probably null |
Het |
| Dnah11 |
T |
A |
12: 117,976,475 (GRCm39) |
D2727V |
probably damaging |
Het |
| Dync1li2 |
T |
C |
8: 105,156,085 (GRCm39) |
D252G |
probably damaging |
Het |
| Ephx2 |
C |
T |
14: 66,326,971 (GRCm39) |
R408Q |
probably damaging |
Het |
| Fat1 |
C |
A |
8: 45,488,569 (GRCm39) |
T3427K |
possibly damaging |
Het |
| Gm5828 |
T |
C |
1: 16,840,172 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7694 |
C |
T |
1: 170,130,394 (GRCm39) |
M1I |
probably null |
Het |
| Gpatch1 |
A |
G |
7: 35,000,997 (GRCm39) |
|
probably benign |
Het |
| Grik1 |
G |
T |
16: 87,754,488 (GRCm39) |
|
probably null |
Het |
| Gtf2ird2 |
A |
G |
5: 134,225,394 (GRCm39) |
T161A |
possibly damaging |
Het |
| Hk2 |
T |
C |
6: 82,706,533 (GRCm39) |
I790V |
possibly damaging |
Het |
| Ints9 |
G |
A |
14: 65,274,870 (GRCm39) |
V609I |
probably benign |
Het |
| Kcnq4 |
T |
G |
4: 120,555,820 (GRCm39) |
D585A |
probably damaging |
Het |
| Large2 |
T |
C |
2: 92,196,684 (GRCm39) |
Y464C |
probably damaging |
Het |
| Lpar6 |
G |
A |
14: 73,476,077 (GRCm39) |
D13N |
probably damaging |
Het |
| Morn1 |
T |
C |
4: 155,176,761 (GRCm39) |
Y132H |
probably damaging |
Het |
| Nphp1 |
C |
T |
2: 127,622,056 (GRCm39) |
V24I |
probably benign |
Het |
| Or5b104 |
A |
T |
19: 13,072,476 (GRCm39) |
F179I |
probably damaging |
Het |
| Or5w17 |
T |
C |
2: 87,584,278 (GRCm39) |
N20D |
probably benign |
Het |
| Or8b1c |
G |
T |
9: 38,384,338 (GRCm39) |
M98I |
possibly damaging |
Het |
| Pcdhb13 |
T |
C |
18: 37,575,690 (GRCm39) |
W23R |
probably benign |
Het |
| Plekhg3 |
T |
C |
12: 76,611,756 (GRCm39) |
|
probably null |
Het |
| Slx4 |
T |
C |
16: 3,808,752 (GRCm39) |
K396R |
probably benign |
Het |
| Snx13 |
A |
G |
12: 35,182,159 (GRCm39) |
D736G |
probably damaging |
Het |
| Spag17 |
A |
G |
3: 99,846,614 (GRCm39) |
D46G |
probably benign |
Het |
| Spata31 |
T |
G |
13: 65,068,630 (GRCm39) |
Y259* |
probably null |
Het |
| Synj1 |
T |
C |
16: 90,748,864 (GRCm39) |
E1064G |
probably damaging |
Het |
| Tom1 |
A |
G |
8: 75,785,085 (GRCm39) |
T81A |
probably benign |
Het |
| Ttc23l |
A |
G |
15: 10,530,775 (GRCm39) |
I279T |
probably damaging |
Het |
| Ttc39a |
T |
C |
4: 109,300,010 (GRCm39) |
|
probably null |
Het |
| Vmn2r108 |
C |
A |
17: 20,682,727 (GRCm39) |
A826S |
possibly damaging |
Het |
| Zyg11b |
A |
T |
4: 108,102,191 (GRCm39) |
V510E |
possibly damaging |
Het |
|
| Other mutations in Gal3st4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01916:Gal3st4
|
APN |
5 |
138,269,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02724:Gal3st4
|
APN |
5 |
138,263,679 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02978:Gal3st4
|
APN |
5 |
138,263,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0506:Gal3st4
|
UTSW |
5 |
138,264,151 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1858:Gal3st4
|
UTSW |
5 |
138,269,050 (GRCm39) |
splice site |
probably null |
|
|
R1914:Gal3st4
|
UTSW |
5 |
138,263,672 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1915:Gal3st4
|
UTSW |
5 |
138,263,672 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4615:Gal3st4
|
UTSW |
5 |
138,264,525 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4805:Gal3st4
|
UTSW |
5 |
138,263,733 (GRCm39) |
splice site |
probably null |
|
|
R5334:Gal3st4
|
UTSW |
5 |
138,263,983 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5442:Gal3st4
|
UTSW |
5 |
138,264,042 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6913:Gal3st4
|
UTSW |
5 |
138,269,090 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7795:Gal3st4
|
UTSW |
5 |
138,269,100 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7948:Gal3st4
|
UTSW |
5 |
138,269,262 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8792:Gal3st4
|
UTSW |
5 |
138,269,251 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9604:Gal3st4
|
UTSW |
5 |
138,264,011 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-06-21 |
Incidental Mutation