Incidental Mutation 'R9285:Chst9'
| ID |
703888 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chst9
|
| Ensembl Gene |
ENSMUSG00000047161 |
| Gene Name |
carbohydrate sulfotransferase 9 |
| Synonyms |
5430438D01Rik, GalNAc4ST-2 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.648)
|
| Stock # |
R9285 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
15584981-15893214 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 15586017 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 182
(H182L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049975
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053017]
[ENSMUST00000130553]
|
| AlphaFold |
Q76EC5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053017
AA Change: H182L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000049975
Gene: ENSMUSG00000047161
AA Change: H182L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
80 |
N/A |
INTRINSIC |
|
Pfam:Sulfotransfer_2
|
174 |
409 |
1.9e-63 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130553
|
| SMART Domains |
Protein: ENSMUSP00000121484
Gene: ENSMUSG00000047161
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (49/49) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to position 4 of non-reducing N-acetylgalactosamine (GalNAc) residues in both N-glycans and O-glycans. Sulfate groups on carbohydrates confer highly specific functions to glycoproteins, glycolipids, and proteoglycans, and are critical for cell-cell interaction, signal transduction, and embryonic development. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Aug 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
G |
T |
6: 128,526,756 (GRCm39) |
T1085K |
probably benign |
Het |
| Asxl3 |
A |
T |
18: 22,654,989 (GRCm39) |
I1000F |
probably damaging |
Het |
| Atp2c2 |
A |
G |
8: 120,465,141 (GRCm39) |
M308V |
probably benign |
Het |
| Chd3 |
G |
T |
11: 69,249,954 (GRCm39) |
R736S |
possibly damaging |
Het |
| Cnot1 |
A |
G |
8: 96,452,746 (GRCm39) |
F2112S |
probably damaging |
Het |
| Csmd1 |
A |
T |
8: 15,956,088 (GRCm39) |
L3373H |
probably damaging |
Het |
| Ctsll3 |
T |
A |
13: 60,946,402 (GRCm39) |
D303V |
probably benign |
Het |
| Cyp7b1 |
T |
A |
3: 18,151,564 (GRCm39) |
K216N |
probably damaging |
Het |
| Dock9 |
A |
C |
14: 121,833,012 (GRCm39) |
F1315V |
probably benign |
Het |
| Eme2 |
T |
C |
17: 25,108,132 (GRCm39) |
|
probably benign |
Het |
| Eml2 |
A |
G |
7: 18,925,568 (GRCm39) |
I222M |
probably damaging |
Het |
| Ggcx |
T |
A |
6: 72,395,402 (GRCm39) |
Y164* |
probably null |
Het |
| Gm20939 |
T |
C |
17: 95,184,188 (GRCm39) |
F279L |
probably damaging |
Het |
| Gm44511 |
T |
C |
6: 128,777,017 (GRCm39) |
|
probably benign |
Het |
| Gprin1 |
A |
G |
13: 54,886,523 (GRCm39) |
S584P |
probably damaging |
Het |
| Ighv2-2 |
A |
T |
12: 113,551,903 (GRCm39) |
Y112N |
probably damaging |
Het |
| Kansl3 |
T |
C |
1: 36,383,148 (GRCm39) |
|
probably benign |
Het |
| Kcnu1 |
T |
A |
8: 26,381,611 (GRCm39) |
I449K |
probably damaging |
Het |
| Lima1 |
T |
C |
15: 99,678,687 (GRCm39) |
R585G |
probably damaging |
Het |
| Lrrk2 |
T |
A |
15: 91,662,686 (GRCm39) |
V1905E |
probably damaging |
Het |
| Map3k6 |
T |
A |
4: 132,972,870 (GRCm39) |
V343E |
probably damaging |
Het |
| Mei1 |
T |
C |
15: 81,985,170 (GRCm39) |
F279S |
|
Het |
| Mgat3 |
A |
G |
15: 80,096,538 (GRCm39) |
D455G |
probably damaging |
Het |
| Mycbp2 |
T |
A |
14: 103,434,753 (GRCm39) |
Q2230L |
probably damaging |
Het |
| Myog |
T |
C |
1: 134,218,895 (GRCm39) |
F179S |
possibly damaging |
Het |
| Nlrc5 |
A |
C |
8: 95,199,604 (GRCm39) |
I72L |
probably damaging |
Het |
| Or2ag1 |
T |
C |
7: 106,472,715 (GRCm39) |
T246A |
probably benign |
Het |
| Or4k2 |
A |
C |
14: 50,424,122 (GRCm39) |
V185G |
probably benign |
Het |
| Or4s2b |
T |
A |
2: 88,508,680 (GRCm39) |
H153Q |
probably damaging |
Het |
| Or5k15 |
T |
A |
16: 58,710,569 (GRCm39) |
K5* |
probably null |
Het |
| Or5p5 |
C |
T |
7: 107,413,821 (GRCm39) |
T10I |
probably damaging |
Het |
| Pcdh18 |
A |
G |
3: 49,707,786 (GRCm39) |
L895P |
probably damaging |
Het |
| Pibf1 |
C |
T |
14: 99,480,345 (GRCm39) |
T707M |
probably benign |
Het |
| Ptk2b |
A |
T |
14: 66,410,844 (GRCm39) |
Y418N |
possibly damaging |
Het |
| Ptx4 |
T |
G |
17: 25,343,930 (GRCm39) |
Y393* |
probably null |
Het |
| Sass6 |
C |
A |
3: 116,422,354 (GRCm39) |
|
probably benign |
Het |
| Sh2b1 |
TGGGGACCAGCTCAGCCACGGGGACCAGCTC |
TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,066,742 (GRCm39) |
|
probably benign |
Het |
| Spatc1l |
T |
C |
10: 76,398,264 (GRCm39) |
V22A |
probably damaging |
Het |
| Strc |
T |
C |
2: 121,195,279 (GRCm39) |
E1668G |
probably damaging |
Het |
| Sulf2 |
T |
A |
2: 165,935,435 (GRCm39) |
H226L |
probably damaging |
Het |
| Sun5 |
T |
C |
2: 153,709,426 (GRCm39) |
|
probably benign |
Het |
| Svep1 |
C |
T |
4: 58,084,809 (GRCm39) |
|
probably null |
Het |
| Tektl1 |
C |
A |
10: 78,588,234 (GRCm39) |
|
probably benign |
Het |
| Xylt2 |
A |
T |
11: 94,558,536 (GRCm39) |
I540N |
probably benign |
Het |
| Zfp804b |
T |
C |
5: 6,820,723 (GRCm39) |
N780S |
probably benign |
Het |
| Zfp983 |
T |
A |
17: 21,876,520 (GRCm39) |
M8K |
possibly damaging |
Het |
|
| Other mutations in Chst9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00788:Chst9
|
APN |
18 |
15,586,087 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL01910:Chst9
|
APN |
18 |
15,585,931 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL03038:Chst9
|
APN |
18 |
15,628,360 (GRCm39) |
missense |
probably benign |
|
|
IGL03146:Chst9
|
APN |
18 |
15,586,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4802001:Chst9
|
UTSW |
18 |
15,585,849 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0536:Chst9
|
UTSW |
18 |
15,628,387 (GRCm39) |
splice site |
probably benign |
|
|
R0647:Chst9
|
UTSW |
18 |
15,585,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1240:Chst9
|
UTSW |
18 |
15,586,231 (GRCm39) |
missense |
probably benign |
|
|
R1580:Chst9
|
UTSW |
18 |
15,586,122 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1892:Chst9
|
UTSW |
18 |
15,586,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2420:Chst9
|
UTSW |
18 |
15,585,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2446:Chst9
|
UTSW |
18 |
15,585,895 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4737:Chst9
|
UTSW |
18 |
15,585,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4790:Chst9
|
UTSW |
18 |
15,586,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4956:Chst9
|
UTSW |
18 |
15,851,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5202:Chst9
|
UTSW |
18 |
15,586,296 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5402:Chst9
|
UTSW |
18 |
15,585,872 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5754:Chst9
|
UTSW |
18 |
15,586,254 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6035:Chst9
|
UTSW |
18 |
15,585,910 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6035:Chst9
|
UTSW |
18 |
15,585,910 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7225:Chst9
|
UTSW |
18 |
15,585,718 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7801:Chst9
|
UTSW |
18 |
15,585,334 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7896:Chst9
|
UTSW |
18 |
15,585,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8159:Chst9
|
UTSW |
18 |
15,585,365 (GRCm39) |
nonsense |
probably null |
|
|
R8776:Chst9
|
UTSW |
18 |
15,586,086 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8776-TAIL:Chst9
|
UTSW |
18 |
15,586,086 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8810:Chst9
|
UTSW |
18 |
15,850,983 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8861:Chst9
|
UTSW |
18 |
15,585,630 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9780:Chst9
|
UTSW |
18 |
15,586,221 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGGAGACTAATCTTTCCATGGG -3'
(R):5'- CTCAGCCCTTAAACAAAAGTTTGG -3'
Sequencing Primer
(F):5'- GGAGACTAATCTTTCCATGGGATCTC -3'
(R):5'- TTTGGTCCAAGGCAACAAATG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation