Incidental Mutation 'R8139:Ppfia4'
ID |
632385 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ppfia4
|
Ensembl Gene |
ENSMUSG00000026458 |
Gene Name |
protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 |
Synonyms |
Liprin-alpha4, 1110008G13Rik, Gm3812, LOC100042382 |
MMRRC Submission |
067567-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.116)
|
Stock # |
R8139 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
134224521-134260666 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 134228266 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 1090
(V1090A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128314
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168515]
[ENSMUST00000186730]
[ENSMUST00000189361]
|
AlphaFold |
B8QI36 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000168515
AA Change: V1090A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000128314 Gene: ENSMUSG00000026458 AA Change: V1090A
Domain | Start | End | E-Value | Type |
coiled coil region
|
22 |
127 |
N/A |
INTRINSIC |
coiled coil region
|
225 |
474 |
N/A |
INTRINSIC |
coiled coil region
|
567 |
611 |
N/A |
INTRINSIC |
low complexity region
|
629 |
645 |
N/A |
INTRINSIC |
low complexity region
|
731 |
744 |
N/A |
INTRINSIC |
SAM
|
826 |
895 |
1.17e-9 |
SMART |
SAM
|
941 |
1008 |
1.69e-6 |
SMART |
SAM
|
1029 |
1101 |
4.87e-7 |
SMART |
low complexity region
|
1154 |
1167 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186730
AA Change: V798A
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000139800 Gene: ENSMUSG00000026458 AA Change: V798A
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
191 |
N/A |
INTRINSIC |
coiled coil region
|
284 |
328 |
N/A |
INTRINSIC |
low complexity region
|
346 |
362 |
N/A |
INTRINSIC |
low complexity region
|
448 |
461 |
N/A |
INTRINSIC |
SAM
|
543 |
612 |
7e-12 |
SMART |
SAM
|
649 |
716 |
1e-8 |
SMART |
SAM
|
737 |
809 |
2.8e-9 |
SMART |
low complexity region
|
862 |
875 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189361
AA Change: V1090A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000139833 Gene: ENSMUSG00000026458 AA Change: V1090A
Domain | Start | End | E-Value | Type |
coiled coil region
|
22 |
127 |
N/A |
INTRINSIC |
coiled coil region
|
225 |
474 |
N/A |
INTRINSIC |
coiled coil region
|
567 |
611 |
N/A |
INTRINSIC |
low complexity region
|
629 |
645 |
N/A |
INTRINSIC |
low complexity region
|
731 |
744 |
N/A |
INTRINSIC |
SAM
|
826 |
895 |
7e-12 |
SMART |
SAM
|
941 |
1008 |
1e-8 |
SMART |
SAM
|
1029 |
1101 |
2.8e-9 |
SMART |
low complexity region
|
1154 |
1167 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.6%
- 20x: 94.2%
|
Validation Efficiency |
100% (84/84) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930567H17Rik |
G |
T |
X: 69,438,120 (GRCm39) |
Q58K |
possibly damaging |
Het |
Aamdc |
T |
C |
7: 97,214,450 (GRCm39) |
M42V |
probably benign |
Het |
Abca6 |
T |
A |
11: 110,074,959 (GRCm39) |
Q1368L |
probably damaging |
Het |
Best3 |
G |
A |
10: 116,840,331 (GRCm39) |
G254R |
probably damaging |
Het |
Cacna1h |
A |
T |
17: 25,602,697 (GRCm39) |
I1478N |
probably damaging |
Het |
Ccdc113 |
T |
A |
8: 96,285,366 (GRCm39) |
M350K |
possibly damaging |
Het |
Cdc42bpa |
A |
T |
1: 179,896,884 (GRCm39) |
H389L |
probably damaging |
Het |
Cnn3 |
G |
T |
3: 121,248,718 (GRCm39) |
M208I |
probably damaging |
Het |
Col11a1 |
A |
G |
3: 113,890,698 (GRCm39) |
D345G |
unknown |
Het |
Degs1l |
A |
G |
1: 180,882,358 (GRCm39) |
D40G |
probably damaging |
Het |
Dnah14 |
G |
T |
1: 181,582,853 (GRCm39) |
V3131F |
probably damaging |
Het |
Dst |
T |
A |
1: 34,230,933 (GRCm39) |
M2842K |
probably benign |
Het |
Dus3l |
C |
T |
17: 57,074,058 (GRCm39) |
Q211* |
probably null |
Het |
Eftud2 |
A |
G |
11: 102,758,685 (GRCm39) |
F171S |
probably benign |
Het |
Elac2 |
T |
C |
11: 64,871,440 (GRCm39) |
I117T |
probably benign |
Het |
Fam13b |
A |
G |
18: 34,606,686 (GRCm39) |
C302R |
possibly damaging |
Het |
Fbxl5 |
G |
A |
5: 43,916,087 (GRCm39) |
Q442* |
probably null |
Het |
Fhdc1 |
A |
G |
3: 84,358,790 (GRCm39) |
S370P |
probably damaging |
Het |
Gtf3c6 |
T |
C |
10: 40,133,469 (GRCm39) |
|
probably null |
Het |
I830077J02Rik |
A |
G |
3: 105,835,314 (GRCm39) |
V21A |
probably benign |
Het |
Inf2 |
G |
T |
12: 112,568,074 (GRCm39) |
E209* |
probably null |
Het |
Irag1 |
A |
G |
7: 110,498,879 (GRCm39) |
|
probably null |
Het |
Irs1 |
A |
T |
1: 82,267,460 (GRCm39) |
M252K |
probably damaging |
Het |
Kcng3 |
C |
A |
17: 83,938,516 (GRCm39) |
V178L |
probably damaging |
Het |
Kif16b |
A |
C |
2: 142,743,285 (GRCm39) |
S3A |
probably benign |
Het |
Kit |
T |
C |
5: 75,813,465 (GRCm39) |
M884T |
probably damaging |
Het |
Kmt2a |
A |
T |
9: 44,730,587 (GRCm39) |
|
probably benign |
Het |
Kptn |
T |
C |
7: 15,857,901 (GRCm39) |
I243T |
probably benign |
Het |
Loxhd1 |
G |
A |
18: 77,468,192 (GRCm39) |
E947K |
possibly damaging |
Het |
Lyl1 |
A |
T |
8: 85,429,476 (GRCm39) |
I62L |
probably damaging |
Het |
Mmp24 |
C |
T |
2: 155,655,965 (GRCm39) |
R468* |
probably null |
Het |
Mtx2 |
G |
A |
2: 74,706,714 (GRCm39) |
D230N |
probably benign |
Het |
Ndufa5 |
A |
T |
6: 24,522,757 (GRCm39) |
Y28* |
probably null |
Het |
Notch4 |
G |
T |
17: 34,803,774 (GRCm39) |
E1515* |
probably null |
Het |
Nrxn3 |
A |
G |
12: 90,171,438 (GRCm39) |
N923S |
probably benign |
Het |
Ogfod2 |
C |
T |
5: 124,251,538 (GRCm39) |
T116M |
possibly damaging |
Het |
Oosp1 |
T |
C |
19: 11,645,118 (GRCm39) |
E182G |
possibly damaging |
Het |
Or4c115 |
A |
G |
2: 88,928,187 (GRCm39) |
V28A |
probably benign |
Het |
Or5p67 |
T |
A |
7: 107,922,113 (GRCm39) |
T257S |
probably benign |
Het |
Or7g20 |
A |
T |
9: 18,946,871 (GRCm39) |
I151F |
probably benign |
Het |
Or7g28 |
A |
C |
9: 19,272,504 (GRCm39) |
V49G |
probably damaging |
Het |
Oxnad1 |
C |
A |
14: 31,814,048 (GRCm39) |
T47K |
possibly damaging |
Het |
Pcdha5 |
A |
G |
18: 37,095,791 (GRCm39) |
M767V |
possibly damaging |
Het |
Pcnx3 |
A |
T |
19: 5,715,773 (GRCm39) |
H1444Q |
probably benign |
Het |
Pde4dip |
G |
T |
3: 97,604,309 (GRCm39) |
Q2224K |
probably benign |
Het |
Pgr |
A |
T |
9: 8,956,341 (GRCm39) |
H763L |
possibly damaging |
Het |
Plec |
T |
C |
15: 76,058,510 (GRCm39) |
D3809G |
probably damaging |
Het |
Ppfia1 |
A |
G |
7: 144,074,430 (GRCm39) |
S155P |
probably damaging |
Het |
Ptgdr |
T |
C |
14: 45,096,142 (GRCm39) |
E190G |
probably benign |
Het |
Rhbdd2 |
T |
A |
5: 135,665,189 (GRCm39) |
C173* |
probably null |
Het |
Rhobtb1 |
C |
A |
10: 69,102,120 (GRCm39) |
P134T |
probably damaging |
Het |
Slc25a36 |
A |
T |
9: 96,962,505 (GRCm39) |
F161L |
probably benign |
Het |
Slc5a11 |
A |
G |
7: 122,869,199 (GRCm39) |
T596A |
probably benign |
Het |
Slco1a6 |
T |
C |
6: 142,035,626 (GRCm39) |
Y566C |
probably damaging |
Het |
Snx15 |
T |
G |
19: 6,169,945 (GRCm39) |
K321T |
probably damaging |
Het |
Snx15 |
T |
C |
19: 6,169,946 (GRCm39) |
K321E |
probably damaging |
Het |
Srebf2 |
C |
T |
15: 82,062,966 (GRCm39) |
R468C |
probably damaging |
Het |
Syt8 |
T |
C |
7: 141,992,005 (GRCm39) |
I32T |
probably benign |
Het |
Thumpd1 |
T |
C |
7: 119,319,808 (GRCm39) |
N53D |
possibly damaging |
Het |
Timm21 |
T |
C |
18: 84,969,263 (GRCm39) |
T54A |
probably benign |
Het |
Tmed10 |
A |
G |
12: 85,391,091 (GRCm39) |
V149A |
probably damaging |
Het |
Tmem108 |
T |
A |
9: 103,377,084 (GRCm39) |
M122L |
probably benign |
Het |
Tram1l1 |
A |
G |
3: 124,115,436 (GRCm39) |
I199V |
probably benign |
Het |
Tspan8 |
A |
G |
10: 115,675,802 (GRCm39) |
N156S |
probably benign |
Het |
Vamp9 |
A |
G |
5: 100,072,785 (GRCm39) |
I111V |
probably benign |
Het |
Vars1 |
T |
C |
17: 35,230,480 (GRCm39) |
V521A |
probably benign |
Het |
Vmn2r54 |
G |
T |
7: 12,349,743 (GRCm39) |
T613N |
possibly damaging |
Het |
Vps13b |
T |
A |
15: 35,607,418 (GRCm39) |
L1117* |
probably null |
Het |
Vps33a |
T |
C |
5: 123,672,015 (GRCm39) |
K451R |
probably benign |
Het |
Vsig10l |
T |
C |
7: 43,113,153 (GRCm39) |
I35T |
probably benign |
Het |
Xpnpep3 |
T |
A |
15: 81,332,660 (GRCm39) |
L399Q |
probably damaging |
Het |
Zfp438 |
T |
C |
18: 5,214,013 (GRCm39) |
E315G |
probably benign |
Het |
Zfp467 |
C |
T |
6: 48,416,268 (GRCm39) |
G128D |
probably damaging |
Het |
|
Other mutations in Ppfia4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01371:Ppfia4
|
APN |
1 |
134,255,824 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01935:Ppfia4
|
APN |
1 |
134,245,674 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02008:Ppfia4
|
APN |
1 |
134,260,129 (GRCm39) |
missense |
probably damaging |
1.00 |
R0037:Ppfia4
|
UTSW |
1 |
134,251,827 (GRCm39) |
missense |
probably damaging |
1.00 |
R0084:Ppfia4
|
UTSW |
1 |
134,227,164 (GRCm39) |
missense |
possibly damaging |
0.84 |
R0108:Ppfia4
|
UTSW |
1 |
134,251,955 (GRCm39) |
splice site |
probably null |
|
R0109:Ppfia4
|
UTSW |
1 |
134,251,955 (GRCm39) |
splice site |
probably null |
|
R0109:Ppfia4
|
UTSW |
1 |
134,251,955 (GRCm39) |
splice site |
probably null |
|
R0238:Ppfia4
|
UTSW |
1 |
134,256,927 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0238:Ppfia4
|
UTSW |
1 |
134,256,927 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0239:Ppfia4
|
UTSW |
1 |
134,256,927 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0239:Ppfia4
|
UTSW |
1 |
134,256,927 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0254:Ppfia4
|
UTSW |
1 |
134,251,962 (GRCm39) |
splice site |
probably benign |
|
R0445:Ppfia4
|
UTSW |
1 |
134,255,027 (GRCm39) |
missense |
probably benign |
0.31 |
R0504:Ppfia4
|
UTSW |
1 |
134,251,851 (GRCm39) |
missense |
probably damaging |
1.00 |
R0617:Ppfia4
|
UTSW |
1 |
134,256,518 (GRCm39) |
missense |
probably damaging |
1.00 |
R0839:Ppfia4
|
UTSW |
1 |
134,256,545 (GRCm39) |
missense |
probably null |
1.00 |
R0849:Ppfia4
|
UTSW |
1 |
134,247,110 (GRCm39) |
missense |
probably benign |
0.45 |
R0898:Ppfia4
|
UTSW |
1 |
134,248,864 (GRCm39) |
missense |
probably benign |
|
R1173:Ppfia4
|
UTSW |
1 |
134,260,021 (GRCm39) |
splice site |
probably benign |
|
R1728:Ppfia4
|
UTSW |
1 |
134,227,059 (GRCm39) |
missense |
probably benign |
0.00 |
R1729:Ppfia4
|
UTSW |
1 |
134,227,059 (GRCm39) |
missense |
probably benign |
0.00 |
R1730:Ppfia4
|
UTSW |
1 |
134,227,059 (GRCm39) |
missense |
probably benign |
0.00 |
R1762:Ppfia4
|
UTSW |
1 |
134,227,059 (GRCm39) |
missense |
probably benign |
0.00 |
R1783:Ppfia4
|
UTSW |
1 |
134,227,059 (GRCm39) |
missense |
probably benign |
0.00 |
R1784:Ppfia4
|
UTSW |
1 |
134,227,059 (GRCm39) |
missense |
probably benign |
0.00 |
R1785:Ppfia4
|
UTSW |
1 |
134,227,059 (GRCm39) |
missense |
probably benign |
0.00 |
R1812:Ppfia4
|
UTSW |
1 |
134,252,311 (GRCm39) |
missense |
probably benign |
0.04 |
R2148:Ppfia4
|
UTSW |
1 |
134,240,372 (GRCm39) |
missense |
probably benign |
0.25 |
R2160:Ppfia4
|
UTSW |
1 |
134,241,461 (GRCm39) |
missense |
probably benign |
0.40 |
R2308:Ppfia4
|
UTSW |
1 |
134,260,135 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2421:Ppfia4
|
UTSW |
1 |
134,255,138 (GRCm39) |
missense |
probably benign |
0.00 |
R3694:Ppfia4
|
UTSW |
1 |
134,240,305 (GRCm39) |
missense |
probably damaging |
1.00 |
R3707:Ppfia4
|
UTSW |
1 |
134,237,398 (GRCm39) |
missense |
probably damaging |
0.99 |
R3708:Ppfia4
|
UTSW |
1 |
134,237,398 (GRCm39) |
missense |
probably damaging |
0.99 |
R3725:Ppfia4
|
UTSW |
1 |
134,241,449 (GRCm39) |
missense |
probably benign |
0.04 |
R3964:Ppfia4
|
UTSW |
1 |
134,250,754 (GRCm39) |
missense |
probably benign |
|
R4889:Ppfia4
|
UTSW |
1 |
134,228,252 (GRCm39) |
missense |
probably damaging |
1.00 |
R4909:Ppfia4
|
UTSW |
1 |
134,260,239 (GRCm39) |
missense |
probably damaging |
0.97 |
R4939:Ppfia4
|
UTSW |
1 |
134,255,817 (GRCm39) |
missense |
possibly damaging |
0.67 |
R5226:Ppfia4
|
UTSW |
1 |
134,232,024 (GRCm39) |
critical splice donor site |
probably null |
|
R5433:Ppfia4
|
UTSW |
1 |
134,245,632 (GRCm39) |
missense |
probably damaging |
1.00 |
R5576:Ppfia4
|
UTSW |
1 |
134,250,788 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5727:Ppfia4
|
UTSW |
1 |
134,251,815 (GRCm39) |
critical splice donor site |
probably null |
|
R5793:Ppfia4
|
UTSW |
1 |
134,239,844 (GRCm39) |
missense |
probably damaging |
1.00 |
R6193:Ppfia4
|
UTSW |
1 |
134,251,899 (GRCm39) |
missense |
probably benign |
0.04 |
R6216:Ppfia4
|
UTSW |
1 |
134,256,921 (GRCm39) |
missense |
probably damaging |
1.00 |
R6679:Ppfia4
|
UTSW |
1 |
134,237,417 (GRCm39) |
missense |
probably damaging |
1.00 |
R6742:Ppfia4
|
UTSW |
1 |
134,256,909 (GRCm39) |
missense |
probably damaging |
1.00 |
R7039:Ppfia4
|
UTSW |
1 |
134,239,853 (GRCm39) |
missense |
probably damaging |
0.97 |
R7206:Ppfia4
|
UTSW |
1 |
134,255,127 (GRCm39) |
missense |
probably benign |
0.00 |
R7259:Ppfia4
|
UTSW |
1 |
134,240,838 (GRCm39) |
missense |
probably damaging |
1.00 |
R7454:Ppfia4
|
UTSW |
1 |
134,251,873 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8878:Ppfia4
|
UTSW |
1 |
134,227,122 (GRCm39) |
missense |
|
|
R8970:Ppfia4
|
UTSW |
1 |
134,252,289 (GRCm39) |
missense |
probably damaging |
1.00 |
R9065:Ppfia4
|
UTSW |
1 |
134,251,893 (GRCm39) |
missense |
possibly damaging |
0.71 |
R9087:Ppfia4
|
UTSW |
1 |
134,240,326 (GRCm39) |
missense |
probably damaging |
1.00 |
R9187:Ppfia4
|
UTSW |
1 |
134,255,006 (GRCm39) |
missense |
probably damaging |
0.99 |
R9308:Ppfia4
|
UTSW |
1 |
134,245,556 (GRCm39) |
missense |
probably benign |
0.30 |
R9424:Ppfia4
|
UTSW |
1 |
134,247,044 (GRCm39) |
missense |
possibly damaging |
0.67 |
R9522:Ppfia4
|
UTSW |
1 |
134,240,886 (GRCm39) |
missense |
probably damaging |
1.00 |
R9687:Ppfia4
|
UTSW |
1 |
134,245,694 (GRCm39) |
missense |
probably benign |
0.01 |
Z1176:Ppfia4
|
UTSW |
1 |
134,255,117 (GRCm39) |
missense |
probably benign |
0.09 |
|
Predicted Primers |
PCR Primer
(F):5'- CTCAGACTTCTCCACAGCAG -3'
(R):5'- TGCCCTTAGACACTGGGAAAC -3'
Sequencing Primer
(F):5'- TTCTCCACAGCAGACCACTTC -3'
(R):5'- AATGTGAGTTCAGTCCCCAG -3'
|
Posted On |
2020-06-30 |