Incidental Mutation 'IGL01570:Pdzk1ip1'
| ID |
91111 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pdzk1ip1
|
| Ensembl Gene |
ENSMUSG00000028716 |
| Gene Name |
PDZK1 interacting protein 1 |
| Synonyms |
Map17, 0610007F13Rik, 2700030M23Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.137)
|
| Stock # |
IGL01570
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
114945905-114951091 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 114946214 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 25
(P25S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128118
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030488]
[ENSMUST00000106548]
[ENSMUST00000171877]
[ENSMUST00000177647]
|
| AlphaFold |
Q9CQH0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030488
|
| SMART Domains |
Protein: ENSMUSP00000030488
Gene: ENSMUSG00000028716
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
transmembrane domain
|
33 |
55 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106548
|
| SMART Domains |
Protein: ENSMUSP00000102158
Gene: ENSMUSG00000028716
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
transmembrane domain
|
33 |
55 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124491
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139710
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146578
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149245
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171877
AA Change: P25S
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000128118
Gene: ENSMUSG00000028716
AA Change: P25S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
57 |
N/A |
INTRINSIC |
|
Pfam:MAP17
|
68 |
181 |
2.4e-35 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177647
|
| SMART Domains |
Protein: ENSMUSP00000136049
Gene: ENSMUSG00000028716
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
transmembrane domain
|
33 |
55 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf3 |
T |
C |
16: 20,378,748 (GRCm39) |
S54P |
probably damaging |
Het |
| Adam5 |
A |
G |
8: 25,300,839 (GRCm39) |
V230A |
probably damaging |
Het |
| Arid4b |
T |
A |
13: 14,361,394 (GRCm39) |
|
probably benign |
Het |
| Cep250 |
T |
G |
2: 155,809,583 (GRCm39) |
|
probably benign |
Het |
| Col28a1 |
T |
A |
6: 8,014,540 (GRCm39) |
D955V |
probably damaging |
Het |
| Gm7676 |
A |
G |
8: 13,946,311 (GRCm39) |
|
noncoding transcript |
Het |
| Hao1 |
A |
G |
2: 134,396,120 (GRCm39) |
S45P |
probably damaging |
Het |
| Hars2 |
A |
T |
18: 36,920,645 (GRCm39) |
I163L |
probably benign |
Het |
| Iqgap1 |
T |
C |
7: 80,372,809 (GRCm39) |
Y1510C |
possibly damaging |
Het |
| Itga4 |
G |
A |
2: 79,152,978 (GRCm39) |
|
probably null |
Het |
| Kif18b |
G |
A |
11: 102,803,217 (GRCm39) |
H498Y |
probably benign |
Het |
| Kin |
C |
T |
2: 10,096,763 (GRCm39) |
T204M |
probably benign |
Het |
| Lmo7 |
T |
C |
14: 102,139,807 (GRCm39) |
|
probably null |
Het |
| Ltbp2 |
G |
A |
12: 84,840,807 (GRCm39) |
T1009I |
probably benign |
Het |
| Mad1l1 |
A |
G |
5: 140,103,032 (GRCm39) |
S489P |
probably benign |
Het |
| Memo1 |
A |
G |
17: 74,524,103 (GRCm39) |
|
probably benign |
Het |
| Myocd |
T |
A |
11: 65,091,633 (GRCm39) |
H103L |
probably benign |
Het |
| Nhlrc2 |
T |
A |
19: 56,563,219 (GRCm39) |
F273I |
possibly damaging |
Het |
| Or10g7 |
T |
C |
9: 39,905,625 (GRCm39) |
I173T |
probably damaging |
Het |
| Or1e26 |
C |
A |
11: 73,480,209 (GRCm39) |
M118I |
probably benign |
Het |
| Or5p4 |
A |
T |
7: 107,680,480 (GRCm39) |
T160S |
probably benign |
Het |
| Pappa2 |
A |
C |
1: 158,642,110 (GRCm39) |
Y1315* |
probably null |
Het |
| Ppp2r5d |
A |
T |
17: 46,998,843 (GRCm39) |
V73D |
possibly damaging |
Het |
| Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
| Qars1 |
C |
T |
9: 108,388,738 (GRCm39) |
T266M |
probably damaging |
Het |
| Slc26a2 |
A |
C |
18: 61,331,332 (GRCm39) |
C700G |
possibly damaging |
Het |
| Zfp638 |
C |
A |
6: 83,924,829 (GRCm39) |
A724E |
probably damaging |
Het |
|
| Other mutations in Pdzk1ip1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01718:Pdzk1ip1
|
APN |
4 |
114,950,111 (GRCm39) |
splice site |
probably benign |
|
|
IGL03048:Pdzk1ip1
|
UTSW |
4 |
114,950,181 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5597:Pdzk1ip1
|
UTSW |
4 |
114,950,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7030:Pdzk1ip1
|
UTSW |
4 |
114,950,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7185:Pdzk1ip1
|
UTSW |
4 |
114,946,305 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8316:Pdzk1ip1
|
UTSW |
4 |
114,946,323 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9643:Pdzk1ip1
|
UTSW |
4 |
114,950,177 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Posted On |
2013-12-09 |
Incidental Mutation