Incidental Mutation 'R6193:Ppfia4'
| ID |
502688 |
| 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 |
044333-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.116)
|
| Stock # |
R6193 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
134224521-134260666 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 134251899 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 425
(D425G)
|
| 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: D425G
PolyPhen 2
Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000128314
Gene: ENSMUSG00000026458
AA Change: D425G
| 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: D142G
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000139800
Gene: ENSMUSG00000026458
AA Change: D142G
| 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: D425G
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000139833
Gene: ENSMUSG00000026458
AA Change: D425G
| 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: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
A |
G |
15: 60,792,629 (GRCm39) |
I106T |
probably benign |
Het |
| Aagab |
A |
C |
9: 63,524,795 (GRCm39) |
N35H |
possibly damaging |
Het |
| Abcf1 |
A |
C |
17: 36,274,464 (GRCm39) |
N161K |
possibly damaging |
Het |
| Adam11 |
T |
A |
11: 102,662,087 (GRCm39) |
H140Q |
probably benign |
Het |
| Araf |
G |
T |
X: 20,726,339 (GRCm39) |
R601L |
probably damaging |
Homo |
| Arhgef26 |
A |
T |
3: 62,247,213 (GRCm39) |
D99V |
possibly damaging |
Het |
| Arhgef28 |
A |
G |
13: 98,121,888 (GRCm39) |
S559P |
probably damaging |
Het |
| Capn11 |
A |
G |
17: 45,964,430 (GRCm39) |
|
probably null |
Het |
| Ccdc157 |
T |
C |
11: 4,101,912 (GRCm39) |
H3R |
probably damaging |
Het |
| Cd101 |
A |
G |
3: 100,927,778 (GRCm39) |
L101P |
probably damaging |
Het |
| Clca3a1 |
A |
G |
3: 144,464,993 (GRCm39) |
V80A |
possibly damaging |
Het |
| Cnot6 |
T |
A |
11: 49,570,850 (GRCm39) |
I381F |
probably benign |
Het |
| Cntn3 |
T |
A |
6: 102,185,092 (GRCm39) |
I675F |
probably benign |
Het |
| Cplx2 |
C |
T |
13: 54,527,406 (GRCm39) |
P97S |
probably damaging |
Het |
| Crtac1 |
T |
A |
19: 42,312,236 (GRCm39) |
E159V |
possibly damaging |
Het |
| Cyp27a1 |
A |
G |
1: 74,776,231 (GRCm39) |
I416V |
probably benign |
Het |
| Cyp2d37-ps |
T |
C |
15: 82,574,014 (GRCm39) |
|
noncoding transcript |
Het |
| Cyp2d9 |
A |
G |
15: 82,336,728 (GRCm39) |
T26A |
probably benign |
Het |
| Cyp2j7 |
T |
A |
4: 96,083,440 (GRCm39) |
R503S |
probably damaging |
Het |
| Dclk1 |
A |
T |
3: 55,424,292 (GRCm39) |
|
probably null |
Het |
| Dgkq |
A |
T |
5: 108,803,366 (GRCm39) |
C231* |
probably null |
Het |
| Dync1i1 |
T |
A |
6: 5,730,679 (GRCm39) |
M38K |
probably benign |
Het |
| Eif2ak4 |
C |
T |
2: 118,231,081 (GRCm39) |
|
probably benign |
Het |
| Ephx2 |
A |
T |
14: 66,326,961 (GRCm39) |
D411E |
probably benign |
Het |
| Ephx2 |
T |
G |
14: 66,349,669 (GRCm39) |
Q34P |
probably benign |
Het |
| Fer1l5 |
A |
T |
1: 36,448,517 (GRCm39) |
N1092Y |
probably benign |
Het |
| Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
| Fzd4 |
A |
T |
7: 89,057,197 (GRCm39) |
K415* |
probably null |
Het |
| Gfi1 |
A |
T |
5: 107,869,397 (GRCm39) |
Y278N |
probably benign |
Het |
| Gm11565 |
T |
C |
11: 99,806,070 (GRCm39) |
M154T |
probably benign |
Het |
| Gm7247 |
A |
G |
14: 51,759,299 (GRCm39) |
I93V |
possibly damaging |
Het |
| Golm1 |
T |
G |
13: 59,792,972 (GRCm39) |
I178L |
probably benign |
Het |
| Grip1 |
A |
T |
10: 119,874,219 (GRCm39) |
D302V |
probably damaging |
Het |
| Gtf2h1 |
G |
A |
7: 46,456,254 (GRCm39) |
|
probably null |
Het |
| Herc2 |
C |
A |
7: 55,806,649 (GRCm39) |
P2372T |
probably damaging |
Het |
| Ighv1-59 |
C |
A |
12: 115,298,786 (GRCm39) |
L89F |
probably damaging |
Het |
| Ighv7-4 |
G |
A |
12: 114,186,445 (GRCm39) |
A109V |
possibly damaging |
Het |
| Kcnk10 |
G |
T |
12: 98,407,031 (GRCm39) |
Q222K |
probably benign |
Het |
| Klra6 |
A |
T |
6: 129,995,881 (GRCm39) |
M159K |
probably benign |
Het |
| Lzts3 |
T |
C |
2: 130,479,306 (GRCm39) |
T36A |
probably damaging |
Het |
| Mgam |
T |
A |
6: 40,724,854 (GRCm39) |
Y443* |
probably null |
Het |
| Mmp23 |
T |
A |
4: 155,735,990 (GRCm39) |
M221L |
possibly damaging |
Het |
| Mmp7 |
T |
A |
9: 7,695,519 (GRCm39) |
V132E |
probably damaging |
Het |
| Npas2 |
C |
A |
1: 39,331,843 (GRCm39) |
T86N |
probably damaging |
Het |
| Or1e32 |
T |
A |
11: 73,705,650 (GRCm39) |
H86L |
probably benign |
Het |
| Or5al7 |
C |
T |
2: 85,992,628 (GRCm39) |
V222M |
possibly damaging |
Het |
| Papola |
A |
T |
12: 105,786,605 (GRCm39) |
E103V |
probably benign |
Het |
| Parp9 |
A |
T |
16: 35,767,921 (GRCm39) |
N34Y |
possibly damaging |
Het |
| Pcdh7 |
A |
G |
5: 57,877,666 (GRCm39) |
D407G |
probably damaging |
Het |
| Pcdhb5 |
T |
G |
18: 37,455,080 (GRCm39) |
Y487D |
probably damaging |
Het |
| Pira12 |
C |
G |
7: 3,901,049 (GRCm39) |
|
probably null |
Het |
| Pla2g4a |
T |
C |
1: 149,778,181 (GRCm39) |
D5G |
probably damaging |
Het |
| Plxnb1 |
T |
C |
9: 108,933,971 (GRCm39) |
L733P |
probably benign |
Het |
| Prss2 |
T |
G |
6: 41,498,754 (GRCm39) |
I6S |
unknown |
Het |
| Psme3ip1 |
A |
G |
8: 95,302,348 (GRCm39) |
S228P |
probably damaging |
Het |
| Qrfprl |
T |
A |
6: 65,433,142 (GRCm39) |
F321I |
probably damaging |
Het |
| Qrich2 |
T |
A |
11: 116,344,979 (GRCm39) |
I1693L |
probably benign |
Het |
| Rad52 |
T |
C |
6: 119,897,143 (GRCm39) |
V324A |
probably benign |
Het |
| Rapgef2 |
A |
T |
3: 78,976,751 (GRCm39) |
Y1352N |
possibly damaging |
Het |
| Rsad2 |
T |
G |
12: 26,506,186 (GRCm39) |
Y78S |
probably damaging |
Het |
| Scaf1 |
A |
G |
7: 44,656,204 (GRCm39) |
|
probably benign |
Het |
| Sfxn5 |
T |
C |
6: 85,246,918 (GRCm39) |
T131A |
probably damaging |
Het |
| Slc4a10 |
T |
G |
2: 62,073,701 (GRCm39) |
|
probably null |
Het |
| Spmap2l |
A |
G |
5: 77,164,183 (GRCm39) |
D62G |
possibly damaging |
Het |
| Syt1 |
A |
G |
10: 108,336,597 (GRCm39) |
V357A |
probably benign |
Het |
| Tenm2 |
T |
A |
11: 35,937,621 (GRCm39) |
D1685V |
probably damaging |
Het |
| Tmc3 |
A |
G |
7: 83,252,543 (GRCm39) |
T315A |
probably benign |
Het |
| Tmem266 |
T |
C |
9: 55,344,493 (GRCm39) |
L375P |
probably benign |
Het |
| Tsks |
T |
G |
7: 44,603,263 (GRCm39) |
L355R |
probably damaging |
Het |
| Uaca |
G |
A |
9: 60,777,326 (GRCm39) |
R571Q |
probably damaging |
Het |
| Ube2f |
T |
A |
1: 91,203,041 (GRCm39) |
|
probably null |
Het |
| Usp37 |
A |
T |
1: 74,532,087 (GRCm39) |
V102D |
probably damaging |
Het |
| Usp44 |
G |
A |
10: 93,683,010 (GRCm39) |
|
probably benign |
Het |
| Vmn2r115 |
T |
C |
17: 23,575,983 (GRCm39) |
F527S |
probably benign |
Het |
| Zfp101 |
A |
C |
17: 33,600,720 (GRCm39) |
Y345* |
probably null |
Het |
| Zfp160 |
C |
A |
17: 21,247,124 (GRCm39) |
A558E |
probably benign |
Het |
| Zfp236 |
T |
C |
18: 82,622,372 (GRCm39) |
E1686G |
probably damaging |
Het |
| Zfp655 |
T |
A |
5: 145,181,586 (GRCm39) |
D481E |
probably benign |
Het |
| Zswim4 |
A |
G |
8: 84,952,774 (GRCm39) |
V396A |
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 |
|
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'- ATCTTGGAGTGACCCCGATC -3'
(R):5'- CTGGAGAGAATTGTCCTAGAGG -3'
Sequencing Primer
(F):5'- TGACCCCGATCTCAGGTGTC -3'
(R):5'- TCCTAGAGGACAGATGAGTGGAC -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation