Incidental Mutation 'R4347:Gal3st2b'
| ID |
328357 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gal3st2b
|
| Ensembl Gene |
ENSMUSG00000093805 |
| Gene Name |
galactose-3-O-sulfotransferase 2B |
| Synonyms |
Gm9994 |
| MMRRC Submission |
041102-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R4347 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
93846159-93870367 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 93867530 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 59
(T59I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136012
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000177958]
[ENSMUST00000178757]
|
| AlphaFold |
Q6XQH0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177958
AA Change: T61I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136311
Gene: ENSMUSG00000093805
AA Change: T61I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gal-3-0_sulfotr
|
1 |
382 |
6.5e-151 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000178757
AA Change: T59I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136012
Gene: ENSMUSG00000093805
AA Change: T59I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gal-3-0_sulfotr
|
13 |
380 |
1.1e-151 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921536K21Rik |
C |
T |
11: 3,840,122 (GRCm39) |
V92M |
probably damaging |
Het |
| 4930503E14Rik |
C |
A |
14: 44,408,635 (GRCm39) |
R66S |
probably damaging |
Het |
| Abca5 |
A |
T |
11: 110,190,794 (GRCm39) |
I772N |
probably damaging |
Het |
| Acox1 |
T |
C |
11: 116,089,487 (GRCm39) |
N15S |
probably benign |
Het |
| Arhgap28 |
C |
T |
17: 68,180,137 (GRCm39) |
V233I |
probably benign |
Het |
| Chil4 |
T |
C |
3: 106,110,144 (GRCm39) |
I317V |
probably benign |
Het |
| Dvl3 |
G |
A |
16: 20,350,049 (GRCm39) |
R645H |
possibly damaging |
Het |
| Efl1 |
A |
T |
7: 82,347,174 (GRCm39) |
M567L |
probably damaging |
Het |
| Gm7135 |
T |
A |
1: 97,276,035 (GRCm39) |
|
noncoding transcript |
Het |
| Gpihbp1 |
T |
G |
15: 75,470,017 (GRCm39) |
*124G |
probably null |
Het |
| Igkv10-96 |
T |
A |
6: 68,609,164 (GRCm39) |
R44W |
probably benign |
Het |
| Igkv13-84 |
T |
A |
6: 68,916,760 (GRCm39) |
I19K |
probably benign |
Het |
| Kcnab1 |
A |
G |
3: 65,204,896 (GRCm39) |
|
probably benign |
Het |
| Kif1b |
C |
A |
4: 149,331,691 (GRCm39) |
G545C |
probably damaging |
Het |
| Mprip |
T |
C |
11: 59,650,279 (GRCm39) |
S1328P |
possibly damaging |
Het |
| Nrp1 |
T |
C |
8: 129,207,472 (GRCm39) |
|
probably null |
Het |
| Olfml1 |
C |
T |
7: 107,167,040 (GRCm39) |
P23L |
probably benign |
Het |
| Plekhh2 |
G |
A |
17: 84,927,130 (GRCm39) |
A1457T |
probably benign |
Het |
| Prr27 |
A |
G |
5: 87,990,531 (GRCm39) |
I40V |
possibly damaging |
Het |
| Slc25a54 |
A |
G |
3: 109,010,055 (GRCm39) |
T185A |
possibly damaging |
Het |
| Srek1 |
C |
T |
13: 103,885,267 (GRCm39) |
G396D |
probably null |
Het |
| Syvn1 |
C |
T |
19: 6,099,951 (GRCm39) |
|
probably benign |
Het |
| Trim3 |
C |
T |
7: 105,268,594 (GRCm39) |
G120D |
probably damaging |
Het |
| Usp5 |
T |
A |
6: 124,798,158 (GRCm39) |
Q409L |
probably damaging |
Het |
| Vim |
T |
G |
2: 13,580,329 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Gal3st2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0593:Gal3st2b
|
UTSW |
1 |
93,868,549 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1631:Gal3st2b
|
UTSW |
1 |
93,868,505 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1753:Gal3st2b
|
UTSW |
1 |
93,868,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2354:Gal3st2b
|
UTSW |
1 |
93,867,508 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3926:Gal3st2b
|
UTSW |
1 |
93,868,512 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6132:Gal3st2b
|
UTSW |
1 |
93,867,688 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R7069:Gal3st2b
|
UTSW |
1 |
93,868,341 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7116:Gal3st2b
|
UTSW |
1 |
93,868,498 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7662:Gal3st2b
|
UTSW |
1 |
93,868,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7775:Gal3st2b
|
UTSW |
1 |
93,868,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8669:Gal3st2b
|
UTSW |
1 |
93,868,764 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8924:Gal3st2b
|
UTSW |
1 |
93,868,653 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8937:Gal3st2b
|
UTSW |
1 |
93,868,570 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9635:Gal3st2b
|
UTSW |
1 |
93,868,777 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9645:Gal3st2b
|
UTSW |
1 |
93,866,328 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9713:Gal3st2b
|
UTSW |
1 |
93,866,409 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Gal3st2b
|
UTSW |
1 |
93,866,407 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTGGACCTAAAGACTACAGAGTGG -3'
(R):5'- GAAGGTGGTTGCACATGATG -3'
Sequencing Primer
(F):5'- ACAGTGCTGTGAGATGGC -3'
(R):5'- GCACATGATGTTAAAGTGATGCTGC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation