Incidental Mutation 'IGL02327:Pak1ip1'
| ID |
288518 |
| 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 # |
IGL02327
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
41154499-41166491 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 41165893 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 308
(N308K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040846
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021790]
[ENSMUST00000046951]
|
| AlphaFold |
Q9DCE5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021790
|
| SMART Domains |
Protein: ENSMUSP00000021790
Gene: ENSMUSG00000021361
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmemb_14
|
13 |
104 |
1.3e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046951
AA Change: N308K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000040846
Gene: ENSMUSG00000038683
AA Change: N308K
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd9 |
A |
T |
12: 110,943,849 (GRCm39) |
C29S |
probably damaging |
Het |
| Ccdc66 |
G |
A |
14: 27,215,343 (GRCm39) |
A399V |
probably damaging |
Het |
| Ccl12 |
A |
G |
11: 81,993,948 (GRCm39) |
I68M |
possibly damaging |
Het |
| Cd244a |
T |
C |
1: 171,386,909 (GRCm39) |
V6A |
probably benign |
Het |
| Cfap97 |
T |
A |
8: 46,623,179 (GRCm39) |
S190T |
probably damaging |
Het |
| Chic2 |
G |
T |
5: 75,187,741 (GRCm39) |
C106* |
probably null |
Het |
| Ctdsp2 |
G |
A |
10: 126,832,251 (GRCm39) |
D237N |
probably benign |
Het |
| Cyp2a22 |
A |
T |
7: 26,634,206 (GRCm39) |
M316K |
probably damaging |
Het |
| Cyp3a25 |
A |
G |
5: 145,923,731 (GRCm39) |
F304S |
possibly damaging |
Het |
| Ddc |
A |
T |
11: 11,813,739 (GRCm39) |
V209D |
probably damaging |
Het |
| Dhx16 |
A |
G |
17: 36,194,717 (GRCm39) |
K446R |
probably benign |
Het |
| Fgd3 |
T |
C |
13: 49,439,274 (GRCm39) |
K241E |
probably damaging |
Het |
| Hps1 |
G |
T |
19: 42,744,784 (GRCm39) |
|
probably benign |
Het |
| Inpp4b |
C |
T |
8: 82,768,591 (GRCm39) |
T700I |
probably benign |
Het |
| Kremen2 |
T |
A |
17: 23,962,543 (GRCm39) |
M157L |
probably benign |
Het |
| Lrwd1 |
T |
C |
5: 136,152,318 (GRCm39) |
Y582C |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,365,523 (GRCm39) |
R1514S |
probably benign |
Het |
| Mex3c |
T |
A |
18: 73,723,781 (GRCm39) |
C625S |
probably damaging |
Het |
| Mical1 |
G |
A |
10: 41,362,660 (GRCm39) |
E932K |
possibly damaging |
Het |
| Ncf2 |
A |
T |
1: 152,692,744 (GRCm39) |
Y87F |
possibly damaging |
Het |
| Neo1 |
T |
C |
9: 58,810,371 (GRCm39) |
T1027A |
probably benign |
Het |
| Nfkbib |
G |
T |
7: 28,458,568 (GRCm39) |
P347Q |
probably benign |
Het |
| Nr1h2 |
G |
A |
7: 44,200,924 (GRCm39) |
|
probably benign |
Het |
| Or1e25 |
A |
T |
11: 73,493,981 (GRCm39) |
T192S |
probably damaging |
Het |
| Or2t43 |
T |
A |
11: 58,457,761 (GRCm39) |
R137W |
probably damaging |
Het |
| Or9m2 |
A |
T |
2: 87,820,601 (GRCm39) |
I49F |
probably damaging |
Het |
| Oxct1 |
A |
G |
15: 4,066,571 (GRCm39) |
|
probably null |
Het |
| Prpf38a |
T |
C |
4: 108,425,607 (GRCm39) |
R224G |
unknown |
Het |
| Scfd1 |
T |
C |
12: 51,436,100 (GRCm39) |
V83A |
possibly damaging |
Het |
| Tmem131 |
C |
T |
1: 36,838,103 (GRCm39) |
G1545D |
probably damaging |
Het |
| Trav13n-4 |
A |
T |
14: 53,601,567 (GRCm39) |
|
probably benign |
Het |
| Ttc3 |
A |
G |
16: 94,248,967 (GRCm39) |
D1155G |
probably damaging |
Het |
| Unc80 |
G |
A |
1: 66,680,832 (GRCm39) |
V2143I |
probably benign |
Het |
| Vmn2r16 |
T |
C |
5: 109,487,987 (GRCm39) |
Y287H |
probably benign |
Het |
| Vmn2r59 |
A |
G |
7: 41,661,655 (GRCm39) |
V720A |
probably benign |
Het |
| Wars1 |
T |
A |
12: 108,832,227 (GRCm39) |
|
probably null |
Het |
| Wdcp |
A |
G |
12: 4,901,115 (GRCm39) |
K324E |
possibly damaging |
Het |
| Wdfy3 |
A |
T |
5: 102,036,058 (GRCm39) |
L2105H |
probably damaging |
Het |
| Xirp2 |
A |
T |
2: 67,340,444 (GRCm39) |
D895V |
probably damaging |
Het |
| Zscan10 |
A |
T |
17: 23,826,546 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Pak1ip1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00341:Pak1ip1
|
APN |
13 |
41,161,494 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL00848:Pak1ip1
|
APN |
13 |
41,166,099 (GRCm39) |
missense |
probably benign |
0.18 |
|
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 |
2015-04-16 |
Incidental Mutation