Incidental Mutation 'R6105:Pak1ip1'
| ID |
485482 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pak1ip1
|
| Ensembl Gene |
ENSMUSG00000038683 |
| Gene Name |
PAK1 interacting protein 1 |
| Synonyms |
5830431I15Rik, p21-activated protein kinase-interacting protein 1, Gdpd1, PIP1, 5930415H02Rik |
| MMRRC Submission |
044255-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6105 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
41154499-41166491 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 41158361 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 78
(L78Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040846
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046951]
|
| AlphaFold |
Q9DCE5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046951
AA Change: L78Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000040846
Gene: ENSMUSG00000038683
AA Change: L78Q
| 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: ENSMUST00000153685
|
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 94.0%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,347,812 (GRCm39) |
M3555T |
probably damaging |
Het |
| Adam9 |
A |
T |
8: 25,460,775 (GRCm39) |
C570S |
probably damaging |
Het |
| Adh6b |
T |
A |
3: 138,063,471 (GRCm39) |
I350K |
possibly damaging |
Het |
| Ahnak |
G |
A |
19: 8,981,463 (GRCm39) |
V916I |
probably benign |
Het |
| Aldh4a1 |
C |
T |
4: 139,365,806 (GRCm39) |
P266S |
possibly damaging |
Het |
| Cnot7 |
C |
T |
8: 40,963,078 (GRCm39) |
R32Q |
probably benign |
Het |
| Cyb5a |
G |
A |
18: 84,889,718 (GRCm39) |
R49Q |
possibly damaging |
Het |
| Fbxo6 |
A |
T |
4: 148,233,979 (GRCm39) |
I39N |
probably damaging |
Het |
| Glul |
T |
A |
1: 153,782,177 (GRCm39) |
Y137* |
probably null |
Het |
| Ipo8 |
A |
G |
6: 148,700,168 (GRCm39) |
Y570H |
probably damaging |
Het |
| Kif2b |
A |
G |
11: 91,466,814 (GRCm39) |
S490P |
probably benign |
Het |
| Kxd1 |
A |
T |
8: 70,972,589 (GRCm39) |
N33K |
probably benign |
Het |
| Man2a2 |
T |
C |
7: 80,016,749 (GRCm39) |
D355G |
probably damaging |
Het |
| Map6 |
T |
C |
7: 98,917,314 (GRCm39) |
V29A |
probably damaging |
Het |
| Mtmr3 |
T |
C |
11: 4,435,432 (GRCm39) |
D1116G |
probably damaging |
Het |
| Or4p23 |
T |
A |
2: 88,577,184 (GRCm39) |
H16L |
probably benign |
Het |
| Or8b52 |
A |
G |
9: 38,576,916 (GRCm39) |
S75P |
probably damaging |
Het |
| Or8d2b |
T |
C |
9: 38,788,604 (GRCm39) |
L44P |
possibly damaging |
Het |
| Phf10 |
C |
T |
17: 15,174,387 (GRCm39) |
|
probably null |
Het |
| Pikfyve |
A |
G |
1: 65,303,504 (GRCm39) |
|
probably null |
Het |
| Pkd1l3 |
A |
G |
8: 110,367,478 (GRCm39) |
D1225G |
probably damaging |
Het |
| Postn |
A |
G |
3: 54,279,641 (GRCm39) |
|
probably null |
Het |
| Slc22a30 |
T |
C |
19: 8,315,232 (GRCm39) |
|
probably null |
Het |
| Specc1l |
T |
C |
10: 75,084,466 (GRCm39) |
S730P |
probably damaging |
Het |
| Steap2 |
T |
A |
5: 5,725,891 (GRCm39) |
I378F |
possibly damaging |
Het |
| Sult4a1 |
T |
A |
15: 83,970,821 (GRCm39) |
K195* |
probably null |
Het |
| Tgfb1i1 |
T |
A |
7: 127,847,589 (GRCm39) |
|
probably null |
Het |
| Thbs4 |
G |
T |
13: 92,911,993 (GRCm39) |
Q246K |
possibly damaging |
Het |
| Tnfsf10 |
A |
G |
3: 27,389,698 (GRCm39) |
Y253C |
probably damaging |
Het |
| Tnpo3 |
G |
T |
6: 29,588,042 (GRCm39) |
C125* |
probably null |
Het |
| Trappc8 |
A |
G |
18: 20,979,504 (GRCm39) |
|
probably null |
Het |
| Trpm6 |
C |
T |
19: 18,831,112 (GRCm39) |
R1326* |
probably null |
Het |
| Vmn2r19 |
A |
C |
6: 123,293,054 (GRCm39) |
E365D |
possibly damaging |
Het |
| Vps18 |
A |
G |
2: 119,119,543 (GRCm39) |
Y8C |
probably damaging |
Het |
| Zc3hav1l |
A |
G |
6: 38,270,012 (GRCm39) |
V279A |
probably benign |
Het |
| Zfp111 |
T |
C |
7: 23,902,791 (GRCm39) |
|
probably null |
Het |
| Zfp618 |
A |
T |
4: 63,051,478 (GRCm39) |
Q753L |
probably benign |
Het |
| Zkscan17 |
A |
T |
11: 59,394,401 (GRCm39) |
C67S |
probably damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTGACGATGTCCCCTTCC -3'
(R):5'- GGAGGATGAAAAGTCCCTGTG -3'
Sequencing Primer
(F):5'- CTTCTCAGACATGGACTCCTGTGG -3'
(R):5'- TTAGTTGCACACATGGGACC -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation