Incidental Mutation 'R3707:Ppfia4'
| ID |
258733 |
| 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 |
040700-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
R3707 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
134224521-134260666 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 134237398 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 967
(E967G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128314
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168515]
[ENSMUST00000186730]
[ENSMUST00000189361]
|
| AlphaFold |
B8QI36 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168515
AA Change: E967G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000128314
Gene: ENSMUSG00000026458
AA Change: E967G
| 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 |
noncoding transcript
Transcript: ENSMUST00000186553
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000186730
AA Change: E675G
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000139800
Gene: ENSMUSG00000026458
AA Change: E675G
| 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 |
noncoding transcript
Transcript: ENSMUST00000186964
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000189361
AA Change: E967G
PolyPhen 2
Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000139833
Gene: ENSMUSG00000026458
AA Change: E967G
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189862
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
| Validation Efficiency |
97% (37/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| Avpr1a |
T |
A |
10: 122,285,014 (GRCm39) |
F102Y |
probably damaging |
Het |
| Bcs1l |
A |
G |
1: 74,629,264 (GRCm39) |
|
probably benign |
Het |
| Chrng |
C |
T |
1: 87,138,333 (GRCm39) |
Q375* |
probably null |
Het |
| Cplane1 |
T |
C |
15: 8,289,300 (GRCm39) |
S2917P |
unknown |
Het |
| Cyp2d10 |
A |
G |
15: 82,287,217 (GRCm39) |
F469L |
possibly damaging |
Het |
| Dennd6a |
T |
C |
14: 26,313,546 (GRCm39) |
|
probably benign |
Het |
| Eef2k |
C |
A |
7: 120,483,935 (GRCm39) |
L224I |
probably damaging |
Het |
| Gm10033 |
G |
C |
8: 69,825,068 (GRCm39) |
|
noncoding transcript |
Het |
| Gm11545 |
T |
C |
11: 94,648,385 (GRCm39) |
|
noncoding transcript |
Het |
| Herpud1 |
T |
A |
8: 95,118,867 (GRCm39) |
V207D |
probably damaging |
Het |
| Hmbox1 |
T |
C |
14: 65,134,285 (GRCm39) |
Y105C |
probably benign |
Het |
| Ighv1-85 |
A |
T |
12: 115,963,836 (GRCm39) |
W55R |
probably damaging |
Het |
| Lgr4 |
T |
C |
2: 109,801,099 (GRCm39) |
L83P |
probably damaging |
Het |
| Lrch1 |
C |
T |
14: 75,095,437 (GRCm39) |
M134I |
probably damaging |
Het |
| Macrod2 |
C |
A |
2: 141,652,549 (GRCm39) |
T204K |
probably damaging |
Het |
| Mtg1 |
A |
T |
7: 139,729,717 (GRCm39) |
K269M |
probably damaging |
Het |
| Nkain3 |
A |
T |
4: 20,484,920 (GRCm39) |
F52L |
possibly damaging |
Het |
| Nr4a3 |
A |
T |
4: 48,056,699 (GRCm39) |
Y417F |
probably damaging |
Het |
| Or12e10 |
T |
C |
2: 87,640,520 (GRCm39) |
C119R |
probably damaging |
Het |
| Or6c8 |
T |
A |
10: 128,915,254 (GRCm39) |
I193F |
probably benign |
Het |
| Pappa2 |
A |
T |
1: 158,662,488 (GRCm39) |
Y1162* |
probably null |
Het |
| Pdhb |
T |
C |
14: 8,170,409 (GRCm38) |
N114S |
probably damaging |
Het |
| Pigc |
T |
A |
1: 161,798,663 (GRCm39) |
M215K |
probably benign |
Het |
| Pimreg |
G |
A |
11: 71,937,158 (GRCm39) |
|
probably benign |
Het |
| Resf1 |
C |
T |
6: 149,230,611 (GRCm39) |
S1219L |
probably damaging |
Het |
| Rif1 |
T |
A |
2: 51,983,592 (GRCm39) |
D578E |
probably damaging |
Het |
| Rrbp1 |
G |
T |
2: 143,795,197 (GRCm39) |
A1269E |
probably benign |
Het |
| Rufy3 |
G |
A |
5: 88,790,891 (GRCm39) |
A531T |
probably benign |
Het |
| Slc22a22 |
C |
A |
15: 57,114,369 (GRCm39) |
L319F |
probably damaging |
Het |
| Tapbpl |
A |
G |
6: 125,201,658 (GRCm39) |
|
probably null |
Het |
| Tdrd1 |
T |
C |
19: 56,854,425 (GRCm39) |
S1124P |
possibly damaging |
Het |
| Top2a |
T |
C |
11: 98,887,651 (GRCm39) |
K1286E |
probably benign |
Het |
| Top2b |
T |
C |
14: 16,388,447 (GRCm38) |
V188A |
probably damaging |
Het |
| Vmn2r4 |
A |
T |
3: 64,296,895 (GRCm39) |
I630N |
probably damaging |
Het |
| Vmn2r53 |
T |
C |
7: 12,315,981 (GRCm39) |
T613A |
possibly damaging |
Het |
| Zbtb40 |
A |
G |
4: 136,726,879 (GRCm39) |
Y486H |
probably damaging |
Het |
| Zfp715 |
T |
C |
7: 42,960,553 (GRCm39) |
T13A |
probably benign |
Het |
| Zfx |
A |
G |
X: 93,142,413 (GRCm39) |
V36A |
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 |
|
|
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 |
|
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'- GGCCCTCTCCATTTCTGAAG -3'
(R):5'- ACAGCTTGACCTCTCATGGG -3'
Sequencing Primer
(F):5'- TCTGAAGACAGAGACCCGG -3'
(R):5'- GGCCTATGGAGACATGAATC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation