Incidental Mutation 'R4891:Chst1'
| ID |
377299 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chst1
|
| Ensembl Gene |
ENSMUSG00000027221 |
| Gene Name |
carbohydrate sulfotransferase 1 |
| Synonyms |
GST-1, KSGAL6ST, C6ST, 2610008E20Rik |
| MMRRC Submission |
042496-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.109)
|
| Stock # |
R4891 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
92430052-92445595 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 92444337 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 270
(T270A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064246
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065797]
|
| AlphaFold |
Q9EQC0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000065797
AA Change: T270A
PolyPhen 2
Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000064246
Gene: ENSMUSG00000027221
AA Change: T270A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:Sulfotransfer_1
|
60 |
384 |
7.1e-64 |
PFAM |
|
Pfam:Sulfotransfer_3
|
61 |
323 |
1.7e-14 |
PFAM |
|
| Meta Mutation Damage Score |
0.0892 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
| Validation Efficiency |
100% (39/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a member of the keratin sulfotransferase family of proteins. The encoded enzyme catalyzes the sulfation of the proteoglycan keratin. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased male sibling aggression when house together, a small decrease in the peripheral and mesenteric lymph nodes and peripheral blood and a small increase in the peripheral lymph nodes and peripheral blood. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
A |
G |
18: 59,166,072 (GRCm39) |
Y1088C |
probably damaging |
Het |
| Cercam |
C |
A |
2: 29,759,283 (GRCm39) |
|
probably benign |
Het |
| Cluh |
C |
T |
11: 74,555,885 (GRCm39) |
T816I |
possibly damaging |
Het |
| Edn3 |
A |
G |
2: 174,603,525 (GRCm39) |
H91R |
probably benign |
Het |
| Fam135a |
A |
G |
1: 24,069,409 (GRCm39) |
S487P |
probably benign |
Het |
| Galns |
T |
A |
8: 123,325,895 (GRCm39) |
D212V |
possibly damaging |
Het |
| Grin2a |
A |
G |
16: 9,475,570 (GRCm39) |
V582A |
possibly damaging |
Het |
| Hs3st4 |
T |
A |
7: 123,996,052 (GRCm39) |
N239K |
possibly damaging |
Het |
| Kmt2b |
C |
T |
7: 30,276,186 (GRCm39) |
W1062* |
probably null |
Het |
| Lrp1 |
T |
C |
10: 127,377,621 (GRCm39) |
N4110S |
probably damaging |
Het |
| Mag |
T |
C |
7: 30,599,793 (GRCm39) |
H582R |
possibly damaging |
Het |
| Maml3 |
C |
T |
3: 51,601,931 (GRCm39) |
|
probably benign |
Het |
| Ndufa5 |
A |
G |
6: 24,519,246 (GRCm39) |
V26A |
possibly damaging |
Het |
| Nek10 |
T |
A |
14: 14,860,986 (GRCm38) |
L513M |
possibly damaging |
Het |
| Or13j1 |
C |
T |
4: 43,706,194 (GRCm39) |
A125T |
probably damaging |
Het |
| Or51g2 |
T |
A |
7: 102,622,759 (GRCm39) |
I147L |
probably benign |
Het |
| Or5ac24 |
T |
A |
16: 59,165,834 (GRCm39) |
T77S |
possibly damaging |
Het |
| Plxdc2 |
A |
G |
2: 16,716,957 (GRCm39) |
H347R |
probably benign |
Het |
| Ptprn2 |
A |
G |
12: 117,196,985 (GRCm39) |
|
probably null |
Het |
| Rab3gap2 |
C |
T |
1: 184,991,563 (GRCm39) |
A683V |
probably benign |
Het |
| Rnf157 |
A |
G |
11: 116,249,496 (GRCm39) |
V240A |
probably damaging |
Het |
| Slc10a5 |
A |
T |
3: 10,399,685 (GRCm39) |
V325E |
possibly damaging |
Het |
| Slc5a9 |
C |
A |
4: 111,748,941 (GRCm39) |
|
probably null |
Het |
| Sptbn2 |
C |
T |
19: 4,788,497 (GRCm39) |
R1159C |
probably damaging |
Het |
| Stk36 |
A |
G |
1: 74,642,415 (GRCm39) |
D14G |
probably damaging |
Het |
| Thap2 |
T |
C |
10: 115,208,601 (GRCm39) |
K173R |
probably damaging |
Het |
| Themis2 |
G |
T |
4: 132,510,668 (GRCm39) |
Q625K |
probably benign |
Het |
| Vcpip1 |
G |
T |
1: 9,818,287 (GRCm39) |
P32Q |
unknown |
Het |
| Vmn1r229 |
A |
T |
17: 21,035,081 (GRCm39) |
T109S |
probably damaging |
Het |
| Vps13b |
T |
A |
15: 35,640,661 (GRCm39) |
|
probably null |
Het |
| Wdr64 |
A |
G |
1: 175,526,345 (GRCm39) |
|
probably benign |
Het |
| Wiz |
A |
G |
17: 32,576,602 (GRCm39) |
S642P |
possibly damaging |
Het |
| Zdhhc1 |
C |
T |
8: 106,199,649 (GRCm39) |
R383Q |
probably benign |
Het |
| Zfp462 |
T |
C |
4: 55,060,055 (GRCm39) |
S1194P |
probably damaging |
Het |
|
| Other mutations in Chst1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01410:Chst1
|
APN |
2 |
92,444,475 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02339:Chst1
|
APN |
2 |
92,443,922 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL03082:Chst1
|
APN |
2 |
92,444,278 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL03111:Chst1
|
APN |
2 |
92,443,692 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0267:Chst1
|
UTSW |
2 |
92,443,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0294:Chst1
|
UTSW |
2 |
92,443,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0504:Chst1
|
UTSW |
2 |
92,444,169 (GRCm39) |
missense |
probably benign |
0.20 |
|
R0707:Chst1
|
UTSW |
2 |
92,443,964 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1302:Chst1
|
UTSW |
2 |
92,443,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2082:Chst1
|
UTSW |
2 |
92,444,335 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5352:Chst1
|
UTSW |
2 |
92,443,710 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6766:Chst1
|
UTSW |
2 |
92,443,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6891:Chst1
|
UTSW |
2 |
92,444,088 (GRCm39) |
missense |
probably benign |
|
|
R9076:Chst1
|
UTSW |
2 |
92,443,761 (GRCm39) |
nonsense |
probably null |
|
|
R9145:Chst1
|
UTSW |
2 |
92,444,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9745:Chst1
|
UTSW |
2 |
92,444,047 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCATGTGGCCATCAAGACTGTG -3'
(R):5'- TTCTGGATCCAGTGTGCCAC -3'
Sequencing Primer
(F):5'- ATCAAGACTGTGCGGGTGC -3'
(R):5'- ATCCAGTGTGCCACGTGACTG -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation