Incidental Mutation 'R5658:Chst5'
| ID |
443931 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chst5
|
| Ensembl Gene |
ENSMUSG00000031952 |
| Gene Name |
carbohydrate sulfotransferase 5 |
| Synonyms |
I-GlcNAc6ST, GST-4 |
| MMRRC Submission |
043172-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5658 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
112615767-112636831 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 112617422 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 66
(V66A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034430
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034430]
|
| AlphaFold |
Q9QUP4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034430
AA Change: V66A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034430
Gene: ENSMUSG00000031952
AA Change: V66A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:Sulfotransfer_1
|
40 |
357 |
1.2e-25 |
PFAM |
|
Pfam:Sulfotransfer_3
|
41 |
294 |
4.7e-16 |
PFAM |
|
low complexity region
|
363 |
376 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an enzyme that catalyzes the transfer of a sulfate group to the GlcNAc residues of keratan. Keratan sulfate helps maintain corneal transparency. Defects in this gene are a cause of macular corneal dystrophy (MCD). [provided by RefSeq, Jan 2010]
PHENOTYPE: Homozygous mutation of this gene results in thinner corneas that show abnormally close collagen fibrillar packing. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522H14Rik |
A |
G |
4: 109,362,644 (GRCm39) |
L221P |
probably damaging |
Het |
| Art2b |
A |
G |
7: 101,229,569 (GRCm39) |
V110A |
probably damaging |
Het |
| Bccip |
A |
G |
7: 133,319,349 (GRCm39) |
I147V |
possibly damaging |
Het |
| Bcl9l |
G |
T |
9: 44,420,466 (GRCm39) |
G1254W |
probably damaging |
Het |
| Cep68 |
C |
T |
11: 20,191,885 (GRCm39) |
|
probably null |
Het |
| F5 |
C |
A |
1: 164,019,907 (GRCm39) |
T794K |
probably damaging |
Het |
| Faf2 |
T |
C |
13: 54,789,347 (GRCm39) |
V55A |
probably benign |
Het |
| Gm7535 |
T |
A |
17: 18,131,582 (GRCm39) |
|
probably benign |
Het |
| Itpr3 |
T |
C |
17: 27,326,852 (GRCm39) |
V1471A |
possibly damaging |
Het |
| Kbtbd4 |
T |
A |
2: 90,736,423 (GRCm39) |
S145T |
probably benign |
Het |
| Kcnh3 |
C |
T |
15: 99,139,957 (GRCm39) |
P948S |
possibly damaging |
Het |
| Kcnq1 |
G |
A |
7: 142,917,432 (GRCm39) |
|
probably null |
Het |
| Kng2 |
T |
C |
16: 22,815,770 (GRCm39) |
|
probably null |
Het |
| Krt9 |
A |
G |
11: 100,081,593 (GRCm39) |
I312T |
probably damaging |
Het |
| Lactb2 |
T |
A |
1: 13,697,642 (GRCm39) |
H254L |
probably benign |
Het |
| Lama5 |
A |
T |
2: 179,850,069 (GRCm39) |
Y187* |
probably null |
Het |
| Ldc1 |
A |
G |
4: 130,114,234 (GRCm39) |
V61A |
probably benign |
Het |
| Maf1 |
T |
C |
15: 76,237,420 (GRCm39) |
V154A |
possibly damaging |
Het |
| Mlh1 |
A |
G |
9: 111,076,448 (GRCm39) |
V303A |
probably damaging |
Het |
| Mrgprh |
A |
T |
17: 13,096,646 (GRCm39) |
K295N |
possibly damaging |
Het |
| Mtrr |
G |
T |
13: 68,717,034 (GRCm39) |
A393D |
possibly damaging |
Het |
| Myef2l |
C |
T |
3: 10,153,837 (GRCm39) |
S202F |
probably damaging |
Het |
| Nebl |
A |
G |
2: 17,353,663 (GRCm39) |
Y963H |
probably damaging |
Het |
| Ormdl1 |
T |
C |
1: 53,348,093 (GRCm39) |
V145A |
probably damaging |
Het |
| Plekha6 |
G |
C |
1: 133,200,045 (GRCm39) |
R208P |
possibly damaging |
Het |
| Pmpcb |
A |
G |
5: 21,943,999 (GRCm39) |
T78A |
probably damaging |
Het |
| Ptprz1 |
G |
A |
6: 23,016,188 (GRCm39) |
R1677Q |
probably damaging |
Het |
| Rad54l2 |
ACCTCCTCCTCCTCCTCCTCCTCCTC |
ACCTCCTCCTCCTCCTCCTCCTC |
9: 106,631,191 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
A |
T |
7: 28,790,514 (GRCm39) |
|
probably null |
Het |
| Sh3bp2 |
T |
A |
5: 34,714,291 (GRCm39) |
I162N |
probably damaging |
Het |
| Slc38a10 |
C |
T |
11: 119,996,218 (GRCm39) |
A960T |
probably benign |
Het |
| Sntb1 |
C |
T |
15: 55,655,472 (GRCm39) |
C248Y |
probably damaging |
Het |
| Sowahc |
G |
A |
10: 59,059,049 (GRCm39) |
R395H |
possibly damaging |
Het |
| Tbc1d5 |
T |
C |
17: 51,120,869 (GRCm39) |
R416G |
probably benign |
Het |
| Tnfaip6 |
A |
T |
2: 51,941,047 (GRCm39) |
Y196F |
possibly damaging |
Het |
| Tpo |
A |
G |
12: 30,105,137 (GRCm39) |
L911P |
possibly damaging |
Het |
| Try5 |
T |
C |
6: 41,289,361 (GRCm39) |
R72G |
probably damaging |
Het |
| Vwa8 |
T |
C |
14: 79,219,838 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Chst5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01146:Chst5
|
APN |
8 |
112,617,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02336:Chst5
|
APN |
8 |
112,616,949 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02634:Chst5
|
APN |
8 |
112,617,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0606:Chst5
|
UTSW |
8 |
112,617,551 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1552:Chst5
|
UTSW |
8 |
112,616,912 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2094:Chst5
|
UTSW |
8 |
112,617,176 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3769:Chst5
|
UTSW |
8 |
112,616,513 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4135:Chst5
|
UTSW |
8 |
112,616,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4872:Chst5
|
UTSW |
8 |
112,617,192 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5759:Chst5
|
UTSW |
8 |
112,616,842 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5893:Chst5
|
UTSW |
8 |
112,616,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6657:Chst5
|
UTSW |
8 |
112,616,906 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6731:Chst5
|
UTSW |
8 |
112,616,676 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7406:Chst5
|
UTSW |
8 |
112,617,245 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7535:Chst5
|
UTSW |
8 |
112,616,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7727:Chst5
|
UTSW |
8 |
112,617,557 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7835:Chst5
|
UTSW |
8 |
112,617,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7843:Chst5
|
UTSW |
8 |
112,617,204 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8257:Chst5
|
UTSW |
8 |
112,617,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8324:Chst5
|
UTSW |
8 |
112,617,140 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8444:Chst5
|
UTSW |
8 |
112,617,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8458:Chst5
|
UTSW |
8 |
112,617,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9001:Chst5
|
UTSW |
8 |
112,616,534 (GRCm39) |
missense |
probably benign |
|
|
R9223:Chst5
|
UTSW |
8 |
112,617,492 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9517:Chst5
|
UTSW |
8 |
112,616,652 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACTATAGGAGCTGCAGGC -3'
(R):5'- CATGCTTTCGCTCCTGATGG -3'
Sequencing Primer
(F):5'- TTGCGCACAGAGGCTTACAC -3'
(R):5'- TGGTACAGACTGGCATCCTG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation