Incidental Mutation 'R3964:Ppfia4'
| ID |
312222 |
| 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 |
040933-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
R3964 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
134224521-134260666 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 134250754 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 478
(D478E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139833
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168515]
[ENSMUST00000186730]
[ENSMUST00000189361]
|
| AlphaFold |
B8QI36 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168515
AA Change: D478E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000128314
Gene: ENSMUSG00000026458
AA Change: D478E
| 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: D195E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000139800
Gene: ENSMUSG00000026458
AA Change: D195E
| 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: D478E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000139833
Gene: ENSMUSG00000026458
AA Change: D478E
| 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 |
0.0594 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
98% (64/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam21 |
C |
A |
12: 81,607,583 (GRCm39) |
A60S |
possibly damaging |
Het |
| Arpp21 |
C |
G |
9: 111,894,844 (GRCm39) |
V805L |
probably damaging |
Het |
| C1galt1c1 |
A |
T |
X: 37,720,453 (GRCm39) |
V181E |
probably benign |
Het |
| Cdh18 |
A |
T |
15: 23,474,187 (GRCm39) |
T686S |
probably benign |
Het |
| Cemip |
T |
A |
7: 83,600,717 (GRCm39) |
Y968F |
probably benign |
Het |
| Cep70 |
T |
A |
9: 99,180,587 (GRCm39) |
F581I |
probably damaging |
Het |
| Ctc1 |
T |
A |
11: 68,921,954 (GRCm39) |
V800D |
probably damaging |
Het |
| Cttnbp2nl |
T |
C |
3: 104,913,321 (GRCm39) |
K188E |
probably damaging |
Het |
| Cux1 |
A |
G |
5: 136,311,796 (GRCm39) |
V1180A |
probably damaging |
Het |
| Cux2 |
G |
T |
5: 122,025,539 (GRCm39) |
S43* |
probably null |
Het |
| Dhx57 |
T |
A |
17: 80,572,541 (GRCm39) |
K711* |
probably null |
Het |
| Ehbp1l1 |
C |
T |
19: 5,760,601 (GRCm39) |
|
probably null |
Het |
| Esyt3 |
T |
A |
9: 99,202,375 (GRCm39) |
D512V |
probably damaging |
Het |
| Gadl1 |
T |
C |
9: 115,794,676 (GRCm39) |
S284P |
probably damaging |
Het |
| Gm14137 |
T |
A |
2: 119,005,497 (GRCm39) |
S19T |
probably benign |
Het |
| Gpr141b |
A |
G |
13: 19,913,614 (GRCm39) |
|
noncoding transcript |
Het |
| Gprc6a |
CAAA |
CA |
10: 51,491,776 (GRCm39) |
|
probably null |
Het |
| Gsdmc2 |
A |
G |
15: 63,721,683 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
T |
C |
1: 150,449,320 (GRCm39) |
T110A |
probably benign |
Het |
| Il23r |
G |
A |
6: 67,443,281 (GRCm39) |
T274I |
probably benign |
Het |
| Inhbb |
C |
A |
1: 119,345,291 (GRCm39) |
G333W |
probably damaging |
Het |
| Kcnb1 |
C |
T |
2: 166,946,412 (GRCm39) |
C812Y |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 41,202,482 (GRCm39) |
|
probably benign |
Het |
| Med31 |
C |
T |
11: 72,102,755 (GRCm39) |
A118T |
probably benign |
Het |
| Mov10l1 |
A |
G |
15: 88,896,366 (GRCm39) |
I737V |
probably benign |
Het |
| Mrs2 |
A |
G |
13: 25,185,746 (GRCm39) |
I142T |
possibly damaging |
Het |
| Ms4a6b |
T |
C |
19: 11,499,098 (GRCm39) |
S71P |
probably benign |
Het |
| Muc2 |
G |
A |
7: 141,286,233 (GRCm39) |
R120H |
probably benign |
Het |
| Muc5b |
A |
T |
7: 141,420,705 (GRCm39) |
I4191F |
possibly damaging |
Het |
| Myrf |
T |
C |
19: 10,196,979 (GRCm39) |
E267G |
probably benign |
Het |
| Nfatc2 |
C |
T |
2: 168,346,469 (GRCm39) |
S875N |
probably benign |
Het |
| Nmi |
T |
C |
2: 51,846,081 (GRCm39) |
E67G |
possibly damaging |
Het |
| Nrap |
T |
C |
19: 56,330,576 (GRCm39) |
S1126G |
probably damaging |
Het |
| Nucb2 |
A |
G |
7: 116,128,110 (GRCm39) |
E273G |
probably damaging |
Het |
| Or10g9 |
A |
T |
9: 39,911,767 (GRCm39) |
V252E |
possibly damaging |
Het |
| Or1j4 |
A |
G |
2: 36,740,729 (GRCm39) |
T224A |
probably benign |
Het |
| Or8b1b |
T |
C |
9: 38,375,979 (GRCm39) |
I214T |
probably benign |
Het |
| Or8b51 |
G |
A |
9: 38,569,023 (GRCm39) |
L222F |
probably benign |
Het |
| Pcdhga12 |
A |
T |
18: 37,900,254 (GRCm39) |
Q362L |
probably benign |
Het |
| Peak1 |
C |
T |
9: 56,167,263 (GRCm39) |
E222K |
probably damaging |
Het |
| Pik3r1 |
T |
C |
13: 101,825,193 (GRCm39) |
E458G |
possibly damaging |
Het |
| Pls1 |
T |
C |
9: 95,667,665 (GRCm39) |
Q81R |
probably benign |
Het |
| Plxdc2 |
T |
A |
2: 16,665,651 (GRCm39) |
F284I |
probably damaging |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Pole |
A |
G |
5: 110,460,648 (GRCm39) |
K1143E |
probably damaging |
Het |
| Ptprd |
A |
G |
4: 75,978,073 (GRCm39) |
|
probably benign |
Het |
| Ptprj |
A |
G |
2: 90,298,785 (GRCm39) |
I315T |
probably benign |
Het |
| Rims1 |
T |
C |
1: 22,497,709 (GRCm39) |
|
probably null |
Het |
| Rnf13 |
G |
A |
3: 57,676,533 (GRCm39) |
G63S |
probably damaging |
Het |
| Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Shld2 |
T |
A |
14: 33,981,644 (GRCm39) |
Q498L |
probably damaging |
Het |
| Slc50a1 |
T |
C |
3: 89,176,093 (GRCm39) |
I151V |
probably benign |
Het |
| Snx27 |
T |
A |
3: 94,438,613 (GRCm39) |
R207S |
probably damaging |
Het |
| Sos1 |
C |
T |
17: 80,762,608 (GRCm39) |
R73H |
probably damaging |
Het |
| Tbc1d9b |
A |
G |
11: 50,059,523 (GRCm39) |
E975G |
possibly damaging |
Het |
| Tbccd1 |
A |
G |
16: 22,660,523 (GRCm39) |
S98P |
probably damaging |
Het |
| Timd5 |
T |
A |
11: 46,426,340 (GRCm39) |
V149D |
possibly damaging |
Het |
| Tmx4 |
T |
C |
2: 134,441,981 (GRCm39) |
I206V |
possibly damaging |
Het |
| Upf1 |
C |
T |
8: 70,791,110 (GRCm39) |
R544H |
probably damaging |
Het |
| Usp19 |
T |
A |
9: 108,375,228 (GRCm39) |
V818E |
probably damaging |
Het |
| Wdr38 |
A |
G |
2: 38,889,362 (GRCm39) |
Y51C |
probably damaging |
Het |
| Zfp456 |
T |
C |
13: 67,514,900 (GRCm39) |
T269A |
probably benign |
Het |
| Zfp628 |
T |
C |
7: 4,924,744 (GRCm39) |
S989P |
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 |
|
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'- GGAGGTATGCTCCCTTCCTAAG -3'
(R):5'- CGGACCTTGCAGTATGTCCTTC -3'
Sequencing Primer
(F):5'- TTCCTAAGTGCCCAGATGAGCTG -3'
(R):5'- GCAGTATGTCCTTCTCCTTTGC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation