Incidental Mutation 'IGL00341:Pak1ip1'
| ID |
4314 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pak1ip1
|
| Ensembl Gene |
ENSMUSG00000038683 |
| Gene Name |
PAK1 interacting protein 1 |
| Synonyms |
5830431I15Rik, p21-activated protein kinase-interacting protein 1, Gdpd1, PIP1, 5930415H02Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00341
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
41154499-41166491 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 41161494 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 84
(T84S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040846
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046951]
|
| AlphaFold |
Q9DCE5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046951
AA Change: T84S
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000040846
Gene: ENSMUSG00000038683
AA Change: T84S
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
29 |
68 |
6.89e-3 |
SMART |
|
WD40
|
71 |
109 |
1.19e-6 |
SMART |
|
WD40
|
112 |
151 |
1.59e-7 |
SMART |
|
Blast:WD40
|
156 |
190 |
4e-10 |
BLAST |
|
WD40
|
194 |
231 |
3.45e-1 |
SMART |
|
WD40
|
234 |
275 |
6.89e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173238
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174472
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174527
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174551
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for an ENU mutagenesis exhibit median orofacial clefting, developmental delay and death around E14. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef5 |
T |
A |
6: 43,257,203 (GRCm39) |
Y519* |
probably null |
Het |
| Bahcc1 |
A |
G |
11: 120,163,130 (GRCm39) |
Y476C |
probably damaging |
Het |
| Bclaf1 |
A |
T |
10: 20,201,745 (GRCm39) |
E295D |
probably damaging |
Het |
| Bend3 |
A |
G |
10: 43,387,539 (GRCm39) |
D644G |
probably damaging |
Het |
| Ccdc122 |
G |
A |
14: 77,329,179 (GRCm39) |
M77I |
probably benign |
Het |
| Ccna1 |
A |
G |
3: 54,958,076 (GRCm39) |
V143A |
probably damaging |
Het |
| Dnah11 |
T |
C |
12: 118,162,480 (GRCm39) |
R30G |
probably benign |
Het |
| Hoxc4 |
A |
G |
15: 102,944,264 (GRCm39) |
D214G |
probably damaging |
Het |
| Itsn2 |
A |
T |
12: 4,708,027 (GRCm39) |
T778S |
possibly damaging |
Het |
| Kcnn2 |
A |
G |
18: 45,810,138 (GRCm39) |
|
probably benign |
Het |
| Krtap5-3 |
G |
T |
7: 141,755,612 (GRCm39) |
|
probably benign |
Het |
| Lgr5 |
G |
T |
10: 115,290,369 (GRCm39) |
Q516K |
possibly damaging |
Het |
| Lrpprc |
T |
C |
17: 85,057,953 (GRCm39) |
K759R |
possibly damaging |
Het |
| Mtfr2 |
A |
G |
10: 20,233,394 (GRCm39) |
D321G |
probably damaging |
Het |
| Nip7 |
A |
G |
8: 107,783,802 (GRCm39) |
Y45C |
possibly damaging |
Het |
| Or4c111 |
T |
C |
2: 88,844,268 (GRCm39) |
I47V |
probably benign |
Het |
| Ptpn20 |
C |
A |
14: 33,344,576 (GRCm39) |
R167S |
probably benign |
Het |
| Rab4b |
C |
T |
7: 26,872,151 (GRCm39) |
G190S |
probably damaging |
Het |
| Ropn1l |
T |
A |
15: 31,443,495 (GRCm39) |
D179V |
probably damaging |
Het |
| Shc2 |
C |
T |
10: 79,456,903 (GRCm39) |
R571Q |
probably damaging |
Het |
| Smad1 |
A |
G |
8: 80,083,098 (GRCm39) |
V134A |
probably damaging |
Het |
| Smad6 |
A |
G |
9: 63,861,263 (GRCm39) |
V344A |
probably damaging |
Het |
| Tet2 |
A |
G |
3: 133,193,846 (GRCm39) |
L196P |
possibly damaging |
Het |
| Tmem64 |
T |
A |
4: 15,266,694 (GRCm39) |
V248E |
probably damaging |
Het |
| Ttc7 |
C |
T |
17: 87,670,992 (GRCm39) |
T709I |
possibly damaging |
Het |
| Usp31 |
A |
G |
7: 121,305,893 (GRCm39) |
L195P |
probably damaging |
Het |
| Vmn2r112 |
G |
A |
17: 22,837,917 (GRCm39) |
V793I |
probably benign |
Het |
| Xpo5 |
T |
G |
17: 46,535,973 (GRCm39) |
L535R |
probably damaging |
Het |
| Ythdc2 |
A |
T |
18: 44,983,464 (GRCm39) |
M544L |
probably benign |
Het |
|
| Other mutations in Pak1ip1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00848:Pak1ip1
|
APN |
13 |
41,166,099 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL02327:Pak1ip1
|
APN |
13 |
41,165,893 (GRCm39) |
missense |
probably benign |
|
|
R0383:Pak1ip1
|
UTSW |
13 |
41,166,080 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1706:Pak1ip1
|
UTSW |
13 |
41,166,164 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1851:Pak1ip1
|
UTSW |
13 |
41,164,708 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1852:Pak1ip1
|
UTSW |
13 |
41,164,708 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4255:Pak1ip1
|
UTSW |
13 |
41,164,632 (GRCm39) |
intron |
probably benign |
|
|
R4326:Pak1ip1
|
UTSW |
13 |
41,158,232 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5062:Pak1ip1
|
UTSW |
13 |
41,161,621 (GRCm39) |
splice site |
probably benign |
|
|
R5929:Pak1ip1
|
UTSW |
13 |
41,158,276 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6101:Pak1ip1
|
UTSW |
13 |
41,158,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6105:Pak1ip1
|
UTSW |
13 |
41,158,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6198:Pak1ip1
|
UTSW |
13 |
41,154,886 (GRCm39) |
missense |
probably benign |
|
|
R7179:Pak1ip1
|
UTSW |
13 |
41,163,018 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7367:Pak1ip1
|
UTSW |
13 |
41,162,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7487:Pak1ip1
|
UTSW |
13 |
41,162,731 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8217:Pak1ip1
|
UTSW |
13 |
41,166,126 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8343:Pak1ip1
|
UTSW |
13 |
41,158,214 (GRCm39) |
missense |
probably benign |
|
|
R8507:Pak1ip1
|
UTSW |
13 |
41,162,770 (GRCm39) |
missense |
probably benign |
|
|
R9269:Pak1ip1
|
UTSW |
13 |
41,162,727 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9746:Pak1ip1
|
UTSW |
13 |
41,162,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation