Incidental Mutation 'R9687:Ppfia4'
| ID |
728886 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
R9687 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
134224521-134260666 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 134245694 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 620
(T620I)
|
| 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: T620I
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000128314
Gene: ENSMUSG00000026458
AA Change: T620I
| 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: T337I
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000139800
Gene: ENSMUSG00000026458
AA Change: T337I
| 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: T620I
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000139833
Gene: ENSMUSG00000026458
AA Change: T620I
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
A |
G |
11: 48,839,249 (GRCm39) |
L446P |
probably damaging |
Het |
| Abcc9 |
T |
C |
6: 142,578,889 (GRCm39) |
T927A |
probably benign |
Het |
| Abraxas2 |
A |
G |
7: 132,482,577 (GRCm39) |
T258A |
probably benign |
Het |
| Akna |
A |
T |
4: 63,292,674 (GRCm39) |
C1078* |
probably null |
Het |
| Arhgap24 |
T |
A |
5: 102,994,022 (GRCm39) |
F34L |
probably benign |
Het |
| Cpa5 |
C |
T |
6: 30,614,041 (GRCm39) |
T61I |
probably benign |
Het |
| Crebrf |
A |
G |
17: 26,982,601 (GRCm39) |
*654W |
probably null |
Het |
| Dchs1 |
C |
A |
7: 105,407,191 (GRCm39) |
R2134L |
probably damaging |
Het |
| Dcps |
T |
C |
9: 35,035,978 (GRCm39) |
N303D |
probably damaging |
Het |
| Ddhd1 |
C |
T |
14: 45,848,190 (GRCm39) |
E527K |
probably damaging |
Het |
| Dnah14 |
T |
A |
1: 181,425,978 (GRCm39) |
M174K |
probably benign |
Het |
| Ehd1 |
A |
G |
19: 6,348,330 (GRCm39) |
D436G |
|
Het |
| Entrep1 |
A |
G |
19: 23,957,029 (GRCm39) |
I327T |
probably damaging |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Etv1 |
T |
C |
12: 38,911,361 (GRCm39) |
Y396H |
probably damaging |
Het |
| Fbxo11 |
A |
G |
17: 88,316,494 (GRCm39) |
I293T |
|
Het |
| Gcfc2 |
T |
A |
6: 81,918,323 (GRCm39) |
S338T |
probably damaging |
Het |
| Gm10272 |
T |
C |
10: 77,542,764 (GRCm39) |
V102A |
possibly damaging |
Het |
| Gm11110 |
T |
C |
17: 57,410,439 (GRCm39) |
T20A |
unknown |
Het |
| Gna14 |
G |
A |
19: 16,582,350 (GRCm39) |
R206Q |
|
Het |
| Gpm6a |
T |
C |
8: 55,503,209 (GRCm39) |
Y153H |
possibly damaging |
Het |
| Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
| H2-M10.6 |
G |
A |
17: 37,125,147 (GRCm39) |
V313I |
probably benign |
Het |
| Igkv8-19 |
T |
C |
6: 70,318,005 (GRCm39) |
I74V |
probably benign |
Het |
| Kif24 |
A |
G |
4: 41,428,546 (GRCm39) |
L138P |
probably damaging |
Het |
| Kif26a |
A |
G |
12: 112,143,625 (GRCm39) |
E1293G |
probably damaging |
Het |
| Lrp1 |
A |
C |
10: 127,402,562 (GRCm39) |
L2203R |
probably damaging |
Het |
| Ms4a6b |
A |
G |
19: 11,497,806 (GRCm39) |
D35G |
possibly damaging |
Het |
| Myo1h |
A |
T |
5: 114,458,769 (GRCm39) |
D184V |
|
Het |
| Ncdn |
G |
A |
4: 126,642,467 (GRCm39) |
R397W |
probably damaging |
Het |
| Ncor1 |
A |
T |
11: 62,260,193 (GRCm39) |
I519N |
possibly damaging |
Het |
| Obsl1 |
A |
G |
1: 75,479,670 (GRCm39) |
V575A |
probably damaging |
Het |
| Or2y15 |
T |
C |
11: 49,350,518 (GRCm39) |
F4S |
probably benign |
Het |
| Or5m8 |
G |
T |
2: 85,822,220 (GRCm39) |
V20L |
probably benign |
Het |
| Or7a35 |
T |
A |
10: 78,853,843 (GRCm39) |
I229N |
probably damaging |
Het |
| Osbpl5 |
A |
G |
7: 143,247,598 (GRCm39) |
Y747H |
possibly damaging |
Het |
| Pcdh18 |
T |
A |
3: 49,711,036 (GRCm39) |
D93V |
probably damaging |
Het |
| Ppef2 |
T |
A |
5: 92,386,746 (GRCm39) |
D397V |
probably benign |
Het |
| Ppp1r9a |
T |
C |
6: 4,905,978 (GRCm39) |
S178P |
probably damaging |
Het |
| Ptchd4 |
A |
G |
17: 42,813,467 (GRCm39) |
Y456C |
probably damaging |
Het |
| Pxk |
A |
G |
14: 8,151,567 (GRCm38) |
I461V |
possibly damaging |
Het |
| Rab18 |
T |
A |
18: 6,784,622 (GRCm39) |
N104K |
probably benign |
Het |
| Sars1 |
A |
G |
3: 108,343,221 (GRCm39) |
L90P |
probably benign |
Het |
| Scaf8 |
T |
A |
17: 3,221,410 (GRCm39) |
I299N |
unknown |
Het |
| Sh3bp2 |
C |
T |
5: 34,716,977 (GRCm39) |
P463S |
probably benign |
Het |
| Slc12a3 |
A |
G |
8: 95,075,208 (GRCm39) |
N734S |
possibly damaging |
Het |
| Slc12a7 |
G |
T |
13: 73,938,796 (GRCm39) |
R191L |
probably damaging |
Het |
| Slc7a12 |
A |
G |
3: 14,545,960 (GRCm39) |
Y35C |
possibly damaging |
Het |
| Spmip2 |
G |
A |
3: 79,337,299 (GRCm39) |
D36N |
possibly damaging |
Het |
| Susd4 |
A |
G |
1: 182,722,762 (GRCm39) |
|
probably null |
Het |
| Taar7f |
G |
A |
10: 23,925,727 (GRCm39) |
R107K |
probably benign |
Het |
| Tarm1 |
T |
C |
7: 3,544,457 (GRCm39) |
T237A |
probably benign |
Het |
| Tshr |
C |
A |
12: 91,504,439 (GRCm39) |
A459E |
probably damaging |
Het |
| Tubgcp5 |
G |
T |
7: 55,475,327 (GRCm39) |
|
probably null |
Het |
| Unc13b |
T |
C |
4: 43,174,920 (GRCm39) |
V1916A |
unknown |
Het |
| Unc45b |
A |
G |
11: 82,810,562 (GRCm39) |
D274G |
probably damaging |
Het |
| Vmn1r230 |
T |
A |
17: 21,067,604 (GRCm39) |
Y264* |
probably null |
Het |
| Vmn2r109 |
G |
T |
17: 20,775,332 (GRCm39) |
Q132K |
|
Het |
| Zbtb20 |
A |
G |
16: 43,430,160 (GRCm39) |
S151G |
possibly damaging |
Het |
| Zbtb22 |
A |
C |
17: 34,136,850 (GRCm39) |
T332P |
probably damaging |
Het |
| Zc3h6 |
A |
G |
2: 128,859,281 (GRCm39) |
D1104G |
probably damaging |
Het |
| Zfp748 |
A |
G |
13: 67,690,471 (GRCm39) |
V263A |
probably benign |
Het |
| Zhx3 |
A |
C |
2: 160,623,678 (GRCm39) |
V163G |
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 |
|
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 |
|
Z1176:Ppfia4
|
UTSW |
1 |
134,255,117 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGTCATGTCACAGGCAAAAG -3'
(R):5'- TTAAACTGGGAAGGTGACTGGC -3'
Sequencing Primer
(F):5'- AATGGCATCCACGGGCCTAAG -3'
(R):5'- TGACTGGCCAAAGAGCCCTG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation