Incidental Mutation 'IGL01633:Ptpn18'
| ID |
93656 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ptpn18
|
| Ensembl Gene |
ENSMUSG00000026126 |
| Gene Name |
protein tyrosine phosphatase, non-receptor type 18 |
| Synonyms |
Ptpk1, PTP-HSCF, FLP1, HSCF, PTP-K1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.167)
|
| Stock # |
IGL01633
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
34498843-34514814 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34510989 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 287
(S287G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139885
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027302]
[ENSMUST00000188972]
[ENSMUST00000190122]
|
| AlphaFold |
Q61152 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027302
|
| SMART Domains |
Protein: ENSMUSP00000027302
Gene: ENSMUSG00000026126
| Domain | Start | End | E-Value | Type |
|---|
|
PTPc
|
25 |
293 |
7.77e-115 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185218
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185881
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188019
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188884
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188972
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190122
AA Change: S287G
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000139885
Gene: ENSMUSG00000026126
AA Change: S287G
| Domain | Start | End | E-Value | Type |
|---|
|
PTPc
|
2 |
269 |
9.1e-113 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191357
|
| Coding Region Coverage |
|
| 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 a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, the mitotic cycle, and oncogenic transformation. This PTP contains a PEST motif, which often serves as a protein-protein interaction domain, and may be related to protein intracellular half-live. This protein can differentially dephosphorylate autophosphorylated tyrosine kinases that are overexpressed in tumor tissues, and it appears to regulate HER2, a member of the epidermal growth factor receptor family of receptor tyrosine kinases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
T |
A |
2: 25,334,406 (GRCm39) |
S1868T |
possibly damaging |
Het |
| Abca3 |
G |
A |
17: 24,616,327 (GRCm39) |
W923* |
probably null |
Het |
| Abca8b |
A |
G |
11: 109,827,580 (GRCm39) |
M1476T |
probably damaging |
Het |
| Abi3bp |
T |
C |
16: 56,498,163 (GRCm39) |
F729S |
probably damaging |
Het |
| Acacb |
T |
C |
5: 114,356,919 (GRCm39) |
|
probably benign |
Het |
| Aldh3a2 |
A |
G |
11: 61,139,731 (GRCm39) |
L467P |
probably benign |
Het |
| Appl1 |
T |
C |
14: 26,684,795 (GRCm39) |
T85A |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,408,574 (GRCm39) |
I2487N |
possibly damaging |
Het |
| Bcl2a1c |
G |
A |
9: 114,159,290 (GRCm39) |
V23I |
probably benign |
Het |
| C2cd2 |
T |
A |
16: 97,676,323 (GRCm39) |
|
probably benign |
Het |
| Carmil3 |
A |
T |
14: 55,731,684 (GRCm39) |
H170L |
possibly damaging |
Het |
| Ccdc141 |
C |
T |
2: 76,919,593 (GRCm39) |
V305I |
probably benign |
Het |
| Ccdc174 |
G |
A |
6: 91,857,343 (GRCm39) |
|
probably null |
Het |
| Cep126 |
T |
G |
9: 8,103,320 (GRCm39) |
Q230P |
possibly damaging |
Het |
| Chrm1 |
T |
C |
19: 8,655,859 (GRCm39) |
I188T |
probably benign |
Het |
| Depdc5 |
T |
C |
5: 33,081,544 (GRCm39) |
S569P |
probably damaging |
Het |
| Drc1 |
G |
A |
5: 30,503,007 (GRCm39) |
E177K |
probably damaging |
Het |
| Duox1 |
A |
G |
2: 122,164,279 (GRCm39) |
E913G |
probably benign |
Het |
| Fbxw9 |
T |
C |
8: 85,791,055 (GRCm39) |
S241P |
probably damaging |
Het |
| Fez2 |
C |
A |
17: 78,712,147 (GRCm39) |
|
probably benign |
Het |
| Fga |
G |
T |
3: 82,937,606 (GRCm39) |
R161L |
possibly damaging |
Het |
| Fn3krp |
G |
T |
11: 121,320,533 (GRCm39) |
G293* |
probably null |
Het |
| Gfra1 |
C |
T |
19: 58,255,479 (GRCm39) |
E318K |
probably benign |
Het |
| Gli3 |
C |
T |
13: 15,823,219 (GRCm39) |
P314S |
probably damaging |
Het |
| Gm5114 |
A |
T |
7: 39,057,490 (GRCm39) |
S710T |
probably benign |
Het |
| Gpr141 |
T |
C |
13: 19,936,769 (GRCm39) |
D2G |
probably benign |
Het |
| Inppl1 |
G |
A |
7: 101,483,041 (GRCm39) |
Q63* |
probably null |
Het |
| Lrrc73 |
T |
A |
17: 46,566,657 (GRCm39) |
V169E |
possibly damaging |
Het |
| Lsm11 |
C |
T |
11: 45,824,615 (GRCm39) |
R304Q |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,395,964 (GRCm39) |
D788G |
probably damaging |
Het |
| Nbas |
T |
A |
12: 13,533,898 (GRCm39) |
D1844E |
probably damaging |
Het |
| Nt5c |
A |
G |
11: 115,382,161 (GRCm39) |
F73L |
probably damaging |
Het |
| Osmr |
A |
T |
15: 6,854,085 (GRCm39) |
I541N |
probably damaging |
Het |
| Phrf1 |
A |
G |
7: 140,840,413 (GRCm39) |
I1203V |
probably benign |
Het |
| Pram1 |
C |
A |
17: 33,861,109 (GRCm39) |
P510Q |
possibly damaging |
Het |
| Prepl |
A |
G |
17: 85,379,444 (GRCm39) |
Y415H |
probably benign |
Het |
| Prss27 |
A |
T |
17: 24,264,650 (GRCm39) |
H271L |
probably damaging |
Het |
| Ptprq |
T |
C |
10: 107,535,584 (GRCm39) |
|
probably benign |
Het |
| Sars2 |
A |
G |
7: 28,446,974 (GRCm39) |
K218E |
probably benign |
Het |
| Senp6 |
G |
T |
9: 79,999,676 (GRCm39) |
S31I |
probably damaging |
Het |
| Shld2 |
G |
T |
14: 33,971,136 (GRCm39) |
T31K |
probably damaging |
Het |
| Skint6 |
C |
A |
4: 113,095,246 (GRCm39) |
V138F |
probably damaging |
Het |
| Slc4a8 |
C |
A |
15: 100,685,128 (GRCm39) |
H168N |
probably damaging |
Het |
| Tbx15 |
T |
G |
3: 99,220,358 (GRCm39) |
I150S |
probably damaging |
Het |
| Tbxas1 |
A |
G |
6: 38,959,125 (GRCm39) |
N103D |
probably benign |
Het |
| Tmc5 |
A |
G |
7: 118,222,809 (GRCm39) |
N170D |
probably damaging |
Het |
| Tmem108 |
A |
T |
9: 103,361,950 (GRCm39) |
N545K |
probably benign |
Het |
| Trub1 |
A |
G |
19: 57,441,616 (GRCm39) |
K80E |
possibly damaging |
Het |
| Tulp3 |
A |
T |
6: 128,302,923 (GRCm39) |
Y299N |
probably damaging |
Het |
|
| Other mutations in Ptpn18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00488:Ptpn18
|
APN |
1 |
34,502,200 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01611:Ptpn18
|
APN |
1 |
34,498,898 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL03379:Ptpn18
|
APN |
1 |
34,509,338 (GRCm39) |
splice site |
probably null |
|
|
R0848:Ptpn18
|
UTSW |
1 |
34,501,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1400:Ptpn18
|
UTSW |
1 |
34,502,587 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1973:Ptpn18
|
UTSW |
1 |
34,502,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2040:Ptpn18
|
UTSW |
1 |
34,509,300 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2113:Ptpn18
|
UTSW |
1 |
34,510,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2963:Ptpn18
|
UTSW |
1 |
34,510,773 (GRCm39) |
nonsense |
probably null |
|
|
R4061:Ptpn18
|
UTSW |
1 |
34,512,011 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4062:Ptpn18
|
UTSW |
1 |
34,512,011 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4509:Ptpn18
|
UTSW |
1 |
34,501,823 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4522:Ptpn18
|
UTSW |
1 |
34,512,041 (GRCm39) |
missense |
probably benign |
|
|
R4626:Ptpn18
|
UTSW |
1 |
34,510,873 (GRCm39) |
splice site |
probably null |
|
|
R4978:Ptpn18
|
UTSW |
1 |
34,508,894 (GRCm39) |
intron |
probably benign |
|
|
R5260:Ptpn18
|
UTSW |
1 |
34,502,591 (GRCm39) |
splice site |
probably benign |
|
|
R5335:Ptpn18
|
UTSW |
1 |
34,502,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5481:Ptpn18
|
UTSW |
1 |
34,510,744 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5865:Ptpn18
|
UTSW |
1 |
34,510,644 (GRCm39) |
splice site |
probably benign |
|
|
R7038:Ptpn18
|
UTSW |
1 |
34,498,906 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R7225:Ptpn18
|
UTSW |
1 |
34,511,927 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7290:Ptpn18
|
UTSW |
1 |
34,501,892 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7411:Ptpn18
|
UTSW |
1 |
34,511,273 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7434:Ptpn18
|
UTSW |
1 |
34,512,445 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7441:Ptpn18
|
UTSW |
1 |
34,512,416 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7442:Ptpn18
|
UTSW |
1 |
34,501,831 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7462:Ptpn18
|
UTSW |
1 |
34,512,445 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7463:Ptpn18
|
UTSW |
1 |
34,512,445 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7464:Ptpn18
|
UTSW |
1 |
34,512,445 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7465:Ptpn18
|
UTSW |
1 |
34,512,445 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7535:Ptpn18
|
UTSW |
1 |
34,512,445 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7537:Ptpn18
|
UTSW |
1 |
34,512,445 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7678:Ptpn18
|
UTSW |
1 |
34,512,445 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7689:Ptpn18
|
UTSW |
1 |
34,512,445 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7899:Ptpn18
|
UTSW |
1 |
34,508,986 (GRCm39) |
splice site |
probably null |
|
|
R8543:Ptpn18
|
UTSW |
1 |
34,511,229 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8821:Ptpn18
|
UTSW |
1 |
34,511,271 (GRCm39) |
missense |
probably null |
1.00 |
|
R8831:Ptpn18
|
UTSW |
1 |
34,511,271 (GRCm39) |
missense |
probably null |
1.00 |
|
R8858:Ptpn18
|
UTSW |
1 |
34,502,196 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8879:Ptpn18
|
UTSW |
1 |
34,502,211 (GRCm39) |
missense |
probably benign |
0.23 |
|
R8924:Ptpn18
|
UTSW |
1 |
34,498,966 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9657:Ptpn18
|
UTSW |
1 |
34,512,473 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
X0065:Ptpn18
|
UTSW |
1 |
34,508,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-09 |
Incidental Mutation