Incidental Mutation 'R5679:Chst8'
| ID |
442932 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chst8
|
| Ensembl Gene |
ENSMUSG00000060402 |
| Gene Name |
carbohydrate sulfotransferase 8 |
| Synonyms |
1500011J21Rik, GalNAc4ST-1 |
| MMRRC Submission |
043176-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5679 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
34373893-34512136 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 34374729 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 370
(H370L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145646
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078686]
[ENSMUST00000154629]
[ENSMUST00000205259]
|
| AlphaFold |
Q8BQ86 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078686
AA Change: H370L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000077752
Gene: ENSMUSG00000060402
AA Change: H370L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
98 |
108 |
N/A |
INTRINSIC |
|
Pfam:Sulfotransfer_2
|
175 |
410 |
4.1e-62 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126294
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135295
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154629
|
| SMART Domains |
Protein: ENSMUSP00000123498
Gene: ENSMUSG00000060402
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000205259
AA Change: H370L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.2%
|
| 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 belongs to the sulfotransferase 2 family. It is predominantly expressed in the pituitary gland, and is localized to the golgi membrane. This protein catalyzes the transfer of sulfate to position 4 of non-reducing N-acetylgalactosamine (GalNAc) residues in both N-glycans and O-glycans. It is responsible for sulfation of GalNAc on luteinizing hormone (LH), which is required for production of the sex hormones. Mice lacking this enzyme, exhibit increased levels of circulating LH, and precocious sexual maturation of both male and female mice. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Male mice homozygous for a null allele show higher luteinizing hormone and testosterone levels, early sexual maturation and enlarged seminal vesicles; females show higher LH, estrogen and progesterone levels, early sexual maturation, enlarged uteri, a prolonged estrous cycle and increased fecundity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh3a1 |
G |
A |
11: 61,107,994 (GRCm39) |
R346Q |
probably benign |
Het |
| Bcat1 |
A |
T |
6: 144,953,474 (GRCm39) |
F304L |
probably damaging |
Het |
| Ccdc178 |
T |
G |
18: 22,200,486 (GRCm39) |
K439N |
probably benign |
Het |
| Cdkn2a |
T |
C |
4: 89,195,098 (GRCm39) |
D84G |
possibly damaging |
Het |
| Dimt1 |
A |
G |
13: 107,084,108 (GRCm39) |
T32A |
possibly damaging |
Het |
| Dph6 |
T |
C |
2: 114,398,422 (GRCm39) |
I162V |
probably benign |
Het |
| E230025N22Rik |
C |
T |
18: 36,818,435 (GRCm39) |
G465R |
possibly damaging |
Het |
| Fam3d |
T |
C |
14: 8,349,305 (GRCm38) |
E215G |
probably damaging |
Het |
| Fbxw7 |
T |
A |
3: 84,884,794 (GRCm39) |
N612K |
probably damaging |
Het |
| Gpr179 |
A |
G |
11: 97,227,571 (GRCm39) |
V1528A |
probably benign |
Het |
| Gucy2g |
T |
A |
19: 55,219,511 (GRCm39) |
K370N |
possibly damaging |
Het |
| Ipo13 |
A |
T |
4: 117,752,029 (GRCm39) |
W903R |
probably damaging |
Het |
| Itgax |
T |
A |
7: 127,734,162 (GRCm39) |
H311Q |
probably benign |
Het |
| Kmt2d |
T |
C |
15: 98,752,153 (GRCm39) |
|
probably benign |
Het |
| Lox |
T |
C |
18: 52,661,989 (GRCm39) |
N138S |
probably benign |
Het |
| Mre11a |
T |
A |
9: 14,698,215 (GRCm39) |
I21N |
probably damaging |
Het |
| Ncan |
T |
G |
8: 70,565,276 (GRCm39) |
Y217S |
probably damaging |
Het |
| Nfil3 |
A |
G |
13: 53,122,527 (GRCm39) |
F126L |
possibly damaging |
Het |
| Nfu1 |
T |
C |
6: 86,996,379 (GRCm39) |
V110A |
probably damaging |
Het |
| Or12e8 |
T |
C |
2: 87,187,889 (GRCm39) |
F34L |
possibly damaging |
Het |
| Or5e1 |
A |
G |
7: 108,354,203 (GRCm39) |
I47V |
probably damaging |
Het |
| Or5g9 |
A |
T |
2: 85,552,390 (GRCm39) |
I214F |
probably damaging |
Het |
| Palld |
T |
C |
8: 62,137,979 (GRCm39) |
Q592R |
possibly damaging |
Het |
| Pcdhac1 |
T |
A |
18: 37,225,530 (GRCm39) |
L781Q |
probably damaging |
Het |
| Rcl1 |
A |
G |
19: 29,098,658 (GRCm39) |
|
probably null |
Het |
| Saxo1 |
C |
T |
4: 86,363,272 (GRCm39) |
V404I |
possibly damaging |
Het |
| Scrt1 |
T |
A |
15: 76,403,262 (GRCm39) |
T243S |
unknown |
Het |
| Slc22a30 |
G |
T |
19: 8,313,135 (GRCm39) |
T550K |
possibly damaging |
Het |
| Strc |
A |
G |
2: 121,198,581 (GRCm39) |
S1437P |
probably benign |
Het |
| Tecpr1 |
T |
A |
5: 144,144,241 (GRCm39) |
I654F |
possibly damaging |
Het |
| Tfcp2l1 |
A |
G |
1: 118,596,377 (GRCm39) |
M371V |
probably benign |
Het |
| Vmn2r11 |
T |
C |
5: 109,202,708 (GRCm39) |
N123S |
probably benign |
Het |
| Wdr81 |
T |
C |
11: 75,343,749 (GRCm39) |
D506G |
probably damaging |
Het |
| Xylt1 |
A |
G |
7: 117,242,877 (GRCm39) |
D640G |
probably damaging |
Het |
| Zfp148 |
T |
G |
16: 33,316,156 (GRCm39) |
M276R |
probably damaging |
Het |
| Zfp329 |
G |
A |
7: 12,543,958 (GRCm39) |
T522I |
probably damaging |
Het |
|
| Other mutations in Chst8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02078:Chst8
|
APN |
7 |
34,374,759 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0306:Chst8
|
UTSW |
7 |
34,374,723 (GRCm39) |
missense |
probably benign |
|
|
R1445:Chst8
|
UTSW |
7 |
34,447,593 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1510:Chst8
|
UTSW |
7 |
34,374,693 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2022:Chst8
|
UTSW |
7 |
34,374,589 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2248:Chst8
|
UTSW |
7 |
34,447,597 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2262:Chst8
|
UTSW |
7 |
34,375,435 (GRCm39) |
missense |
probably benign |
|
|
R4463:Chst8
|
UTSW |
7 |
34,374,645 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4764:Chst8
|
UTSW |
7 |
34,375,149 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5379:Chst8
|
UTSW |
7 |
34,375,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5521:Chst8
|
UTSW |
7 |
34,374,670 (GRCm39) |
missense |
probably benign |
|
|
R6412:Chst8
|
UTSW |
7 |
34,375,504 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7247:Chst8
|
UTSW |
7 |
34,375,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7282:Chst8
|
UTSW |
7 |
34,447,628 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7952:Chst8
|
UTSW |
7 |
34,374,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8261:Chst8
|
UTSW |
7 |
34,447,579 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9507:Chst8
|
UTSW |
7 |
34,447,496 (GRCm39) |
nonsense |
probably null |
|
|
R9600:Chst8
|
UTSW |
7 |
34,374,646 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
Z1186:Chst8
|
UTSW |
7 |
34,447,606 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1191:Chst8
|
UTSW |
7 |
34,447,606 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATCCTCAGAGCTCAGTCC -3'
(R):5'- TCGTCCAGTACCTGTTGGATGTC -3'
Sequencing Primer
(F):5'- CCTATGCGCAGGTGAGTG -3'
(R):5'- TGGATGTCCACCGGCCC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation