Incidental Mutation 'R1423:Tpst2'
ID |
161166 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tpst2
|
Ensembl Gene |
ENSMUSG00000029344 |
Gene Name |
protein-tyrosine sulfotransferase 2 |
Synonyms |
D5Ucla3, grt, grm, Tango13b |
MMRRC Submission |
039479-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.695)
|
Stock # |
R1423 (G1)
|
Quality Score |
100 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
112424557-112463227 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 112455488 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 9
(L9Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114592
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031287]
[ENSMUST00000071455]
[ENSMUST00000151947]
|
AlphaFold |
O88856 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031287
AA Change: L9Q
PolyPhen 2
Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000031287 Gene: ENSMUSG00000029344 AA Change: L9Q
Domain | Start | End | E-Value | Type |
low complexity region
|
22 |
43 |
N/A |
INTRINSIC |
Pfam:Sulfotransfer_3
|
82 |
272 |
8.8e-19 |
PFAM |
Pfam:Sulfotransfer_1
|
82 |
284 |
2.8e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000071455
AA Change: L9Q
PolyPhen 2
Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000071399 Gene: ENSMUSG00000029344 AA Change: L9Q
Domain | Start | End | E-Value | Type |
low complexity region
|
22 |
43 |
N/A |
INTRINSIC |
Pfam:Sulfotransfer_3
|
82 |
276 |
8.4e-16 |
PFAM |
Pfam:Sulfotransfer_1
|
82 |
284 |
2.8e-9 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134071
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140262
|
SMART Domains |
Protein: ENSMUSP00000116816 Gene: ENSMUSG00000029344
Domain | Start | End | E-Value | Type |
PDB:3AP2|B
|
2 |
63 |
4e-36 |
PDB |
SCOP:d1fmja_
|
3 |
55 |
9e-9 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151947
AA Change: L9Q
PolyPhen 2
Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198502
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.0%
- 20x: 88.8%
|
Validation Efficiency |
100% (48/48) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the O-sulfation of tyrosine residues within acidic regions of proteins. The encoded protein is a type II integral membrane protein found in the Golgi body. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] PHENOTYPE: Spontaneous mutants show a delayed rise and a prolonged deficit of pituitary growth hormone resulting in delayed pubertal growth, hypothyroidism, and an enlarged adenohypophysis with aberrant chromophobic cells. Homozygous null mice show a modest but transient pubertal growth lag and male sterility. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd13d |
A |
G |
19: 4,331,097 (GRCm39) |
S64P |
probably damaging |
Het |
Armh4 |
T |
C |
14: 49,988,896 (GRCm39) |
E691G |
probably damaging |
Het |
Bag4 |
T |
C |
8: 26,258,302 (GRCm39) |
S342G |
probably damaging |
Het |
Bbs1 |
G |
A |
19: 4,944,291 (GRCm39) |
T446I |
probably benign |
Het |
Bmyc |
A |
G |
2: 25,597,236 (GRCm39) |
D100G |
probably damaging |
Het |
Btbd7 |
T |
C |
12: 102,751,734 (GRCm39) |
D1010G |
possibly damaging |
Het |
Celsr3 |
A |
T |
9: 108,704,104 (GRCm39) |
T196S |
probably benign |
Het |
Crtam |
C |
A |
9: 40,884,918 (GRCm39) |
R161L |
probably benign |
Het |
Cyp11b2 |
C |
A |
15: 74,724,979 (GRCm39) |
G290V |
probably damaging |
Het |
Edc4 |
C |
T |
8: 106,617,843 (GRCm39) |
|
probably benign |
Het |
Exd1 |
A |
T |
2: 119,370,494 (GRCm39) |
|
probably benign |
Het |
Fam120a |
G |
T |
13: 49,039,219 (GRCm39) |
A979E |
possibly damaging |
Het |
Fbxo16 |
T |
C |
14: 65,524,623 (GRCm39) |
|
probably benign |
Het |
Fbxo44 |
C |
G |
4: 148,240,726 (GRCm39) |
R220S |
probably damaging |
Het |
Gabrb2 |
A |
G |
11: 42,420,298 (GRCm39) |
N173S |
probably damaging |
Het |
Gm13741 |
A |
T |
2: 87,486,674 (GRCm39) |
I197K |
possibly damaging |
Het |
Helb |
T |
A |
10: 119,944,871 (GRCm39) |
I222F |
probably damaging |
Het |
Hesx1 |
A |
T |
14: 26,723,876 (GRCm39) |
Q153L |
probably null |
Het |
Isca1 |
T |
C |
13: 59,910,593 (GRCm39) |
N33S |
probably benign |
Het |
Itsn2 |
T |
C |
12: 4,723,572 (GRCm39) |
V1142A |
probably damaging |
Het |
Lama5 |
T |
G |
2: 179,837,434 (GRCm39) |
T984P |
probably damaging |
Het |
Lima1 |
T |
A |
15: 99,717,626 (GRCm39) |
K127* |
probably null |
Het |
Lmbrd1 |
T |
A |
1: 24,785,959 (GRCm39) |
V418D |
probably damaging |
Het |
Mertk |
T |
C |
2: 128,620,883 (GRCm39) |
V575A |
probably damaging |
Het |
Mrps28 |
T |
C |
3: 8,965,184 (GRCm39) |
H85R |
probably benign |
Het |
Mrtfb |
T |
C |
16: 13,230,105 (GRCm39) |
V930A |
possibly damaging |
Het |
Naip2 |
G |
A |
13: 100,291,386 (GRCm39) |
T1184M |
probably benign |
Het |
Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
Naip2 |
TCCC |
TCC |
13: 100,291,355 (GRCm39) |
|
probably benign |
Het |
Naip2 |
G |
A |
13: 100,291,380 (GRCm39) |
S1186F |
possibly damaging |
Het |
Nhlrc3 |
A |
T |
3: 53,369,836 (GRCm39) |
L45H |
probably damaging |
Het |
Or52e5 |
T |
G |
7: 104,719,226 (GRCm39) |
M184R |
probably damaging |
Het |
Or52u1 |
C |
T |
7: 104,237,682 (GRCm39) |
R224* |
probably null |
Het |
Or8s16 |
T |
C |
15: 98,211,324 (GRCm39) |
T36A |
probably damaging |
Het |
Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
Pcdhb15 |
A |
T |
18: 37,606,975 (GRCm39) |
D69V |
probably damaging |
Het |
Pitpnm1 |
G |
A |
19: 4,162,392 (GRCm39) |
R1074H |
probably damaging |
Het |
Plb1 |
A |
G |
5: 32,450,601 (GRCm39) |
N381D |
probably benign |
Het |
Poc1b |
T |
C |
10: 98,988,725 (GRCm39) |
S247P |
probably damaging |
Het |
Prl7b1 |
T |
A |
13: 27,786,110 (GRCm39) |
N186I |
probably damaging |
Het |
Riok1 |
T |
C |
13: 38,233,090 (GRCm39) |
M241T |
probably damaging |
Het |
Tigit |
T |
C |
16: 43,469,395 (GRCm39) |
E232G |
probably benign |
Het |
Ttbk1 |
T |
C |
17: 46,757,080 (GRCm39) |
|
probably benign |
Het |
Vmn1r3 |
A |
T |
4: 3,185,231 (GRCm39) |
N25K |
probably damaging |
Het |
Vmn2r121 |
T |
A |
X: 123,039,602 (GRCm39) |
H522L |
possibly damaging |
Het |
Vmn2r15 |
T |
C |
5: 109,441,093 (GRCm39) |
Y255C |
probably damaging |
Het |
|
Other mutations in Tpst2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01727:Tpst2
|
APN |
5 |
112,457,724 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03268:Tpst2
|
APN |
5 |
112,456,091 (GRCm39) |
missense |
probably damaging |
1.00 |
blooming
|
UTSW |
5 |
112,455,623 (GRCm39) |
missense |
probably benign |
|
feldspar
|
UTSW |
5 |
112,456,171 (GRCm39) |
nonsense |
probably null |
|
gypsum
|
UTSW |
5 |
112,455,911 (GRCm39) |
missense |
probably damaging |
1.00 |
hot_springs
|
UTSW |
5 |
112,455,544 (GRCm39) |
missense |
probably benign |
0.05 |
R1175:Tpst2
|
UTSW |
5 |
112,455,911 (GRCm39) |
missense |
probably damaging |
1.00 |
R1537:Tpst2
|
UTSW |
5 |
112,456,286 (GRCm39) |
missense |
possibly damaging |
0.48 |
R2013:Tpst2
|
UTSW |
5 |
112,455,880 (GRCm39) |
missense |
probably damaging |
1.00 |
R4624:Tpst2
|
UTSW |
5 |
112,456,162 (GRCm39) |
missense |
probably damaging |
1.00 |
R4873:Tpst2
|
UTSW |
5 |
112,457,687 (GRCm39) |
nonsense |
probably null |
|
R4875:Tpst2
|
UTSW |
5 |
112,457,687 (GRCm39) |
nonsense |
probably null |
|
R5272:Tpst2
|
UTSW |
5 |
112,455,818 (GRCm39) |
missense |
probably damaging |
1.00 |
R6123:Tpst2
|
UTSW |
5 |
112,456,084 (GRCm39) |
missense |
probably damaging |
1.00 |
R6487:Tpst2
|
UTSW |
5 |
112,455,989 (GRCm39) |
missense |
probably damaging |
1.00 |
R6605:Tpst2
|
UTSW |
5 |
112,424,600 (GRCm39) |
start gained |
probably benign |
|
R6688:Tpst2
|
UTSW |
5 |
112,455,623 (GRCm39) |
missense |
probably benign |
|
R7240:Tpst2
|
UTSW |
5 |
112,455,544 (GRCm39) |
missense |
probably benign |
0.05 |
R7625:Tpst2
|
UTSW |
5 |
112,455,887 (GRCm39) |
missense |
probably damaging |
1.00 |
R7777:Tpst2
|
UTSW |
5 |
112,457,560 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7797:Tpst2
|
UTSW |
5 |
112,455,782 (GRCm39) |
missense |
probably damaging |
1.00 |
R8306:Tpst2
|
UTSW |
5 |
112,455,803 (GRCm39) |
missense |
probably damaging |
1.00 |
R8486:Tpst2
|
UTSW |
5 |
112,456,171 (GRCm39) |
nonsense |
probably null |
|
R8875:Tpst2
|
UTSW |
5 |
112,457,714 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GGGTTGAATCTTGCTGTCCACCTG -3'
(R):5'- ACAAAGATGAGTGGCATGGCCTTG -3'
Sequencing Primer
(F):5'- TGTCCACCTGAGGCTCTGAG -3'
(R):5'- TGCCATAGCGGTACTCCAC -3'
|
Posted On |
2014-03-14 |