Incidental Mutation 'R6742:Ppfia4'
ID |
530472 |
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 |
044859-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.116)
|
Stock # |
R6742 (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 C
at 134256909 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Arginine
at position 104
(L104R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139833
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168515]
[ENSMUST00000186730]
[ENSMUST00000189361]
|
AlphaFold |
B8QI36 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000168515
AA Change: L104R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000128314 Gene: ENSMUSG00000026458 AA Change: L104R
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
|
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 damaging
Transcript: ENSMUST00000189361
AA Change: L104R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000139833 Gene: ENSMUSG00000026458 AA Change: L104R
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 |
0.3376 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.6%
|
Validation Efficiency |
100% (46/46) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
A |
G |
6: 121,654,995 (GRCm39) |
R1440G |
probably benign |
Het |
Abca13 |
T |
A |
11: 9,278,168 (GRCm39) |
L3116Q |
probably damaging |
Het |
Adgb |
G |
A |
10: 10,287,593 (GRCm39) |
H55Y |
probably damaging |
Het |
AI182371 |
G |
T |
2: 34,974,717 (GRCm39) |
|
probably benign |
Het |
Ank3 |
T |
C |
10: 69,827,412 (GRCm39) |
|
probably benign |
Het |
Ccdc127 |
G |
T |
13: 74,501,042 (GRCm39) |
G20W |
probably damaging |
Het |
Ccdc149 |
G |
A |
5: 52,562,475 (GRCm39) |
Q184* |
probably null |
Het |
Cntrob |
G |
A |
11: 69,213,749 (GRCm39) |
P14S |
probably damaging |
Het |
Dnah11 |
T |
C |
12: 118,077,629 (GRCm39) |
E1288G |
possibly damaging |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Evpl |
T |
C |
11: 116,113,640 (GRCm39) |
D1350G |
possibly damaging |
Het |
Fasn |
T |
C |
11: 120,701,279 (GRCm39) |
T1990A |
probably damaging |
Het |
Itga2 |
T |
A |
13: 114,973,061 (GRCm39) |
N1166I |
possibly damaging |
Het |
Lmtk2 |
T |
A |
5: 144,085,175 (GRCm39) |
C216S |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 41,361,132 (GRCm39) |
D557G |
probably benign |
Het |
Lrrc32 |
T |
C |
7: 98,148,039 (GRCm39) |
V273A |
probably benign |
Het |
Nlrp4f |
C |
T |
13: 65,335,254 (GRCm39) |
|
probably null |
Het |
Ntng2 |
T |
G |
2: 29,090,940 (GRCm39) |
M360L |
probably benign |
Het |
Pik3c2b |
A |
G |
1: 133,003,559 (GRCm39) |
S504G |
probably benign |
Het |
Raph1 |
A |
G |
1: 60,564,879 (GRCm39) |
S203P |
probably damaging |
Het |
Rbl1 |
G |
A |
2: 157,011,918 (GRCm39) |
T679I |
probably benign |
Het |
Rnase4 |
G |
T |
14: 51,342,486 (GRCm39) |
R70L |
probably benign |
Het |
Rnf146 |
A |
C |
10: 29,223,528 (GRCm39) |
D119E |
probably damaging |
Het |
Rrp1b |
A |
G |
17: 32,275,908 (GRCm39) |
H485R |
probably benign |
Het |
Rwdd4a |
T |
A |
8: 48,000,998 (GRCm39) |
|
probably null |
Het |
Scarf2 |
G |
A |
16: 17,624,351 (GRCm39) |
C552Y |
probably damaging |
Het |
Skic2 |
G |
A |
17: 35,064,166 (GRCm39) |
R507* |
probably null |
Het |
Sox10 |
T |
C |
15: 79,040,676 (GRCm39) |
N127S |
probably damaging |
Het |
Speer4a1 |
A |
T |
5: 26,241,054 (GRCm39) |
|
probably null |
Het |
Tars1 |
A |
T |
15: 11,394,427 (GRCm39) |
I70N |
probably damaging |
Het |
Thsd7a |
C |
T |
6: 12,408,815 (GRCm39) |
V736M |
probably damaging |
Het |
Timp3 |
G |
A |
10: 86,136,742 (GRCm39) |
V9M |
probably benign |
Het |
Tnfrsf1a |
A |
T |
6: 125,333,911 (GRCm39) |
N55Y |
probably damaging |
Het |
Trim43a |
G |
A |
9: 88,470,399 (GRCm39) |
V402I |
possibly damaging |
Het |
Tshz2 |
A |
G |
2: 169,725,677 (GRCm39) |
D91G |
probably damaging |
Het |
Ubac1 |
T |
C |
2: 25,895,418 (GRCm39) |
D345G |
possibly damaging |
Het |
Usp4 |
G |
A |
9: 108,251,438 (GRCm39) |
V538I |
possibly damaging |
Het |
Vmn2r19 |
A |
T |
6: 123,306,917 (GRCm39) |
Y475F |
possibly damaging |
Het |
Vmn2r87 |
A |
T |
10: 130,308,396 (GRCm39) |
V614E |
probably damaging |
Het |
Wfdc2 |
A |
T |
2: 164,404,706 (GRCm39) |
T21S |
probably benign |
Het |
Yod1 |
G |
A |
1: 130,645,275 (GRCm39) |
G19S |
probably damaging |
Het |
Zfp78 |
A |
G |
7: 6,381,277 (GRCm39) |
E109G |
probably damaging |
Het |
Zfp873 |
C |
A |
10: 81,894,256 (GRCm39) |
A19D |
probably damaging |
Het |
Zfp935 |
T |
A |
13: 62,602,293 (GRCm39) |
K302N |
probably damaging |
Het |
Zfpm2 |
G |
A |
15: 40,965,114 (GRCm39) |
S401N |
probably benign |
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 |
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'- AAGCAAGAACCCAGTGCTG -3'
(R):5'- AGTTCCCGATAGCTGTAGGC -3'
Sequencing Primer
(F):5'- CCAGTGCTGGGGACTAGGTG -3'
(R):5'- GCTGTAGGCTTCCTGCACTG -3'
|
Posted On |
2018-08-01 |