Incidental Mutation 'R0109:Ppfia4'
ID |
64182 |
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 |
038395-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.148)
|
Stock # |
R0109 (G1)
|
Quality Score |
167 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
134224521-134260666 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 134251955 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139833
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168515]
[ENSMUST00000186730]
[ENSMUST00000189361]
|
AlphaFold |
B8QI36 |
Predicted Effect |
probably null
Transcript: ENSMUST00000168515
|
SMART Domains |
Protein: ENSMUSP00000128314 Gene: ENSMUSG00000026458
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 null
Transcript: ENSMUST00000186730
|
SMART Domains |
Protein: ENSMUSP00000139800 Gene: ENSMUSG00000026458
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 null
Transcript: ENSMUST00000189361
|
SMART Domains |
Protein: ENSMUSP00000139833 Gene: ENSMUSG00000026458
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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
A |
T |
7: 119,917,985 (GRCm39) |
K1496* |
probably null |
Het |
Anapc1 |
C |
A |
2: 128,476,613 (GRCm39) |
R1335L |
probably damaging |
Het |
Arhgef10l |
A |
T |
4: 140,305,605 (GRCm39) |
S203T |
probably benign |
Het |
Astn1 |
C |
T |
1: 158,491,674 (GRCm39) |
T41I |
possibly damaging |
Het |
Avil |
A |
G |
10: 126,849,513 (GRCm39) |
N603S |
probably benign |
Het |
Brca1 |
T |
C |
11: 101,421,916 (GRCm39) |
D149G |
possibly damaging |
Het |
Col19a1 |
A |
C |
1: 24,598,849 (GRCm39) |
|
probably null |
Het |
Cps1 |
T |
C |
1: 67,268,577 (GRCm39) |
V1435A |
possibly damaging |
Het |
Cyp2j6 |
A |
T |
4: 96,406,394 (GRCm39) |
I459N |
probably damaging |
Het |
Cyth1 |
T |
C |
11: 118,073,132 (GRCm39) |
E242G |
probably damaging |
Het |
Dclk3 |
T |
G |
9: 111,296,738 (GRCm39) |
L94R |
possibly damaging |
Het |
Dsg3 |
T |
C |
18: 20,673,191 (GRCm39) |
V954A |
probably damaging |
Het |
Dync2h1 |
T |
A |
9: 7,111,487 (GRCm39) |
D309V |
probably damaging |
Het |
Efhd2 |
A |
G |
4: 141,601,878 (GRCm39) |
F101L |
probably benign |
Het |
Fgd5 |
T |
A |
6: 91,965,216 (GRCm39) |
M325K |
possibly damaging |
Het |
Fras1 |
T |
C |
5: 96,857,936 (GRCm39) |
S2077P |
probably benign |
Het |
Frmpd1 |
A |
T |
4: 45,279,340 (GRCm39) |
E688D |
probably benign |
Het |
Hspg2 |
T |
C |
4: 137,289,512 (GRCm39) |
V3824A |
probably benign |
Het |
Kctd16 |
A |
G |
18: 40,392,204 (GRCm39) |
E264G |
probably benign |
Het |
Mapk15 |
A |
T |
15: 75,867,926 (GRCm39) |
K153* |
probably null |
Het |
Miox |
G |
A |
15: 89,219,784 (GRCm39) |
V91I |
probably benign |
Het |
Nfyb |
G |
A |
10: 82,590,836 (GRCm39) |
A65V |
possibly damaging |
Het |
Or4a69 |
A |
G |
2: 89,313,147 (GRCm39) |
F111L |
probably benign |
Het |
Or52d1 |
T |
C |
7: 103,755,812 (GRCm39) |
S109P |
probably damaging |
Het |
Or5b94 |
C |
A |
19: 12,652,224 (GRCm39) |
F218L |
probably benign |
Het |
Parp9 |
T |
C |
16: 35,768,711 (GRCm39) |
I64T |
probably damaging |
Het |
Pfkfb4 |
T |
C |
9: 108,827,957 (GRCm39) |
V43A |
probably benign |
Het |
Pgap1 |
A |
T |
1: 54,533,984 (GRCm39) |
V643E |
probably damaging |
Het |
Pip5k1b |
T |
A |
19: 24,356,411 (GRCm39) |
M176L |
probably benign |
Het |
Prdx2 |
G |
A |
8: 85,696,880 (GRCm39) |
G4S |
probably benign |
Het |
Rin3 |
A |
G |
12: 102,279,340 (GRCm39) |
I50V |
possibly damaging |
Het |
Rtl1 |
G |
A |
12: 109,561,841 (GRCm39) |
|
probably benign |
Het |
Sgsm3 |
G |
C |
15: 80,893,667 (GRCm39) |
D434H |
probably damaging |
Het |
Shank2 |
T |
C |
7: 143,964,314 (GRCm39) |
S634P |
possibly damaging |
Het |
Sik2 |
A |
G |
9: 50,810,775 (GRCm39) |
M447T |
possibly damaging |
Het |
Sla2 |
A |
G |
2: 156,725,507 (GRCm39) |
|
probably null |
Het |
Spata16 |
T |
A |
3: 26,967,416 (GRCm39) |
F389I |
probably damaging |
Het |
Srebf1 |
G |
A |
11: 60,092,630 (GRCm39) |
A793V |
probably benign |
Het |
Tmed11 |
T |
A |
5: 108,925,278 (GRCm39) |
D178V |
probably damaging |
Het |
Traf7 |
A |
G |
17: 24,732,900 (GRCm39) |
F110L |
probably benign |
Het |
Ttn |
T |
A |
2: 76,555,908 (GRCm39) |
I30366F |
probably damaging |
Het |
Ubqlnl |
C |
T |
7: 103,799,399 (GRCm39) |
V33M |
probably damaging |
Het |
Vmn1r194 |
A |
G |
13: 22,429,217 (GRCm39) |
Y278C |
probably damaging |
Het |
Vmn2r100 |
C |
A |
17: 19,742,382 (GRCm39) |
P252Q |
possibly damaging |
Het |
Vmn2r114 |
A |
T |
17: 23,529,549 (GRCm39) |
Y184* |
probably null |
Het |
Vmn2r53 |
C |
T |
7: 12,315,993 (GRCm39) |
A609T |
probably damaging |
Het |
Vps13b |
A |
G |
15: 35,572,265 (GRCm39) |
T961A |
probably benign |
Het |
Xirp2 |
T |
A |
2: 67,349,622 (GRCm39) |
N3272K |
probably damaging |
Het |
Zfp217 |
C |
T |
2: 169,957,382 (GRCm39) |
A539T |
probably benign |
Het |
Zfp454 |
T |
A |
11: 50,774,602 (GRCm39) |
T24S |
possibly 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 |
|
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 |
R8139:Ppfia4
|
UTSW |
1 |
134,228,266 (GRCm39) |
missense |
probably benign |
0.01 |
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'- TGGCTCAGGTGGCTTTACCAATATG -3'
(R):5'- AACAAAGATCTCCAAGGTGGCTGAC -3'
Sequencing Primer
(F):5'- AGTCCACTGGGCTCCAC -3'
(R):5'- GGCACCAGTTAGCCATCTTG -3'
|
Posted On |
2013-08-06 |