Incidental Mutation 'IGL01916:Gal3st4'
| ID |
179942 |
| 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: 0.064)
|
| Stock # |
IGL01916
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
138263183-138271102 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 138269197 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 83
(R83C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125084
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014089]
[ENSMUST00000100530]
[ENSMUST00000161279]
[ENSMUST00000161647]
[ENSMUST00000159067]
[ENSMUST00000161665]
[ENSMUST00000161984]
[ENSMUST00000161827]
|
| 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 damaging
Transcript: ENSMUST00000100530
AA Change: R88C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000098099
Gene: ENSMUSG00000075593
AA Change: R88C
| 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 |
noncoding transcript
Transcript: ENSMUST00000138911
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141454
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144460
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161279
AA Change: R88C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124841
Gene: ENSMUSG00000075593
AA Change: R88C
| 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 |
probably damaging
Transcript: ENSMUST00000161647
AA Change: R83C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125084
Gene: ENSMUSG00000075593
AA Change: R83C
| 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 |
noncoding transcript
Transcript: ENSMUST00000159689
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161055
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162557
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162909
|
| 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 |
probably benign
Transcript: ENSMUST00000161665
|
| SMART Domains |
Protein: ENSMUSP00000124682
Gene: ENSMUSG00000075593
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
17 |
39 |
N/A |
INTRINSIC |
|
| 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 |
|
| 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 |
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
T |
C |
11: 109,684,937 (GRCm39) |
T187A |
probably damaging |
Het |
| A430005L14Rik |
C |
A |
4: 154,045,997 (GRCm39) |
F214L |
possibly damaging |
Het |
| A830018L16Rik |
C |
A |
1: 11,818,331 (GRCm39) |
|
probably benign |
Het |
| Adgrd1 |
T |
C |
5: 129,209,902 (GRCm39) |
S342P |
probably benign |
Het |
| Aldh4a1 |
A |
G |
4: 139,371,457 (GRCm39) |
Y457C |
probably damaging |
Het |
| Ankrd7 |
A |
T |
6: 18,868,250 (GRCm39) |
E124V |
possibly damaging |
Het |
| Atad5 |
T |
A |
11: 80,003,665 (GRCm39) |
|
probably null |
Het |
| Card14 |
T |
C |
11: 119,233,971 (GRCm39) |
Y854H |
probably benign |
Het |
| Ccdc85c |
T |
C |
12: 108,174,103 (GRCm39) |
H355R |
probably damaging |
Het |
| Ccr3 |
T |
A |
9: 123,829,589 (GRCm39) |
V308D |
probably damaging |
Het |
| Cep170 |
T |
C |
1: 176,567,476 (GRCm39) |
|
probably benign |
Het |
| Cmtr2 |
C |
A |
8: 110,948,580 (GRCm39) |
Q297K |
probably benign |
Het |
| Col19a1 |
A |
C |
1: 24,573,322 (GRCm39) |
L150R |
unknown |
Het |
| Cwf19l2 |
T |
C |
9: 3,477,869 (GRCm39) |
I858T |
possibly damaging |
Het |
| Cyp39a1 |
C |
T |
17: 44,041,941 (GRCm39) |
P383S |
probably damaging |
Het |
| Ddi2 |
C |
T |
4: 141,422,709 (GRCm39) |
|
probably benign |
Het |
| Dnah17 |
T |
G |
11: 118,016,114 (GRCm39) |
I342L |
probably benign |
Het |
| Efhc1 |
T |
C |
1: 21,048,973 (GRCm39) |
I462T |
probably damaging |
Het |
| Ephx4 |
A |
T |
5: 107,553,896 (GRCm39) |
|
probably null |
Het |
| Fam193b |
A |
G |
13: 55,698,031 (GRCm39) |
|
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,157,366 (GRCm39) |
N2306D |
possibly damaging |
Het |
| Folr1 |
A |
T |
7: 101,507,947 (GRCm39) |
H164Q |
probably benign |
Het |
| Fut10 |
T |
C |
8: 31,725,734 (GRCm39) |
V163A |
probably benign |
Het |
| Galnt16 |
T |
C |
12: 80,639,264 (GRCm39) |
|
probably null |
Het |
| Gata5 |
G |
A |
2: 179,968,734 (GRCm39) |
S380F |
possibly damaging |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gm4787 |
A |
T |
12: 81,424,218 (GRCm39) |
L647M |
probably benign |
Het |
| Gvin3 |
T |
G |
7: 106,201,033 (GRCm39) |
H737P |
probably benign |
Het |
| Hcfc2 |
A |
G |
10: 82,570,217 (GRCm39) |
K523E |
possibly damaging |
Het |
| Ift70a1 |
C |
A |
2: 75,811,223 (GRCm39) |
V287L |
probably damaging |
Het |
| Igkv6-15 |
A |
T |
6: 70,383,458 (GRCm39) |
Y114* |
probably null |
Het |
| Il10ra |
A |
T |
9: 45,167,444 (GRCm39) |
L369Q |
probably damaging |
Het |
| Il6st |
A |
G |
13: 112,616,606 (GRCm39) |
K51R |
possibly damaging |
Het |
| Kif26a |
C |
T |
12: 112,143,328 (GRCm39) |
P1194L |
possibly damaging |
Het |
| Kntc1 |
T |
G |
5: 123,939,976 (GRCm39) |
L1590R |
probably damaging |
Het |
| Lipo3 |
G |
T |
19: 33,762,182 (GRCm39) |
A105E |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,335,423 (GRCm39) |
S4382C |
probably damaging |
Het |
| Macf1 |
C |
T |
4: 123,369,830 (GRCm39) |
E79K |
probably damaging |
Het |
| Nmnat2 |
T |
C |
1: 152,969,792 (GRCm39) |
I195T |
probably damaging |
Het |
| Or11g25 |
A |
G |
14: 50,722,950 (GRCm39) |
T12A |
probably benign |
Het |
| Pcdhb13 |
A |
G |
18: 37,576,914 (GRCm39) |
T431A |
possibly damaging |
Het |
| Pcgf3 |
G |
A |
5: 108,634,045 (GRCm39) |
G101D |
probably benign |
Het |
| Phip |
T |
C |
9: 82,772,522 (GRCm39) |
D1070G |
possibly damaging |
Het |
| Ren1 |
A |
G |
1: 133,286,150 (GRCm39) |
H231R |
probably benign |
Het |
| Sox9 |
C |
A |
11: 112,675,500 (GRCm39) |
Q230K |
probably benign |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Stard9 |
T |
A |
2: 120,498,497 (GRCm39) |
Y154N |
probably damaging |
Het |
| Thnsl1 |
A |
T |
2: 21,217,476 (GRCm39) |
N410I |
possibly damaging |
Het |
| Tnfrsf21 |
A |
T |
17: 43,350,694 (GRCm39) |
E286V |
probably benign |
Het |
| Trbv13-1 |
A |
G |
6: 41,093,246 (GRCm39) |
R60G |
probably damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Wrn |
T |
A |
8: 33,747,252 (GRCm39) |
I1110F |
possibly damaging |
Het |
| Zfp777 |
G |
T |
6: 48,002,276 (GRCm39) |
R649S |
probably damaging |
Het |
| Zmym6 |
T |
A |
4: 127,017,549 (GRCm39) |
I1110N |
probably damaging |
Het |
|
| Other mutations in Gal3st4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01143:Gal3st4
|
APN |
5 |
138,269,664 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
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 |
2014-05-07 |
Incidental Mutation