Incidental Mutation 'IGL02008:Ppfia4'
| ID |
183249 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
IGL02008
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
134224521-134260666 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 134260129 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 45
(R45W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139833
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168515]
[ENSMUST00000189361]
|
| AlphaFold |
B8QI36 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168515
AA Change: R45W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128314
Gene: ENSMUSG00000026458
AA Change: R45W
| 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 damaging
Transcript: ENSMUST00000189361
AA Change: R45W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139833
Gene: ENSMUSG00000026458
AA Change: R45W
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
G |
3: 121,969,750 (GRCm39) |
T2252A |
probably benign |
Het |
| Abcc2 |
C |
T |
19: 43,810,189 (GRCm39) |
|
probably benign |
Het |
| Abcf1 |
T |
C |
17: 36,272,954 (GRCm39) |
E231G |
probably benign |
Het |
| Astn2 |
T |
C |
4: 65,977,390 (GRCm39) |
Y379C |
probably damaging |
Het |
| Atp8b1 |
G |
T |
18: 64,671,766 (GRCm39) |
|
probably benign |
Het |
| Atr |
T |
A |
9: 95,763,473 (GRCm39) |
|
probably benign |
Het |
| Bdp1 |
A |
G |
13: 100,160,335 (GRCm39) |
S2349P |
possibly damaging |
Het |
| Bmp2 |
T |
C |
2: 133,402,886 (GRCm39) |
S146P |
probably damaging |
Het |
| Cacna1c |
T |
C |
6: 118,692,885 (GRCm39) |
S218G |
probably null |
Het |
| Cand2 |
T |
C |
6: 115,780,599 (GRCm39) |
V1161A |
probably damaging |
Het |
| Clec16a |
T |
C |
16: 10,398,824 (GRCm39) |
V330A |
probably damaging |
Het |
| Cpsf1 |
A |
T |
15: 76,487,291 (GRCm39) |
V161D |
probably damaging |
Het |
| Ctsh |
A |
G |
9: 89,943,600 (GRCm39) |
Y75C |
probably damaging |
Het |
| Cyp26c1 |
C |
A |
19: 37,677,371 (GRCm39) |
L267M |
probably damaging |
Het |
| Cyp26c1 |
T |
A |
19: 37,677,372 (GRCm39) |
L267Q |
probably damaging |
Het |
| Cyp2c50 |
G |
A |
19: 40,079,543 (GRCm39) |
W212* |
probably null |
Het |
| Dnah5 |
T |
A |
15: 28,343,698 (GRCm39) |
M2366K |
probably damaging |
Het |
| Ermp1 |
A |
G |
19: 29,590,320 (GRCm39) |
M794T |
probably damaging |
Het |
| F11 |
G |
T |
8: 45,703,132 (GRCm39) |
S186Y |
probably damaging |
Het |
| Fam184b |
A |
T |
5: 45,690,165 (GRCm39) |
F815I |
possibly damaging |
Het |
| Fezf2 |
T |
C |
14: 12,343,705 (GRCm38) |
I347V |
probably benign |
Het |
| Fip1l1 |
C |
T |
5: 74,706,084 (GRCm39) |
T114I |
possibly damaging |
Het |
| Gbp7 |
A |
C |
3: 142,252,211 (GRCm39) |
D598A |
probably benign |
Het |
| Gm1110 |
T |
A |
9: 26,794,526 (GRCm39) |
D500V |
probably benign |
Het |
| Gm3248 |
T |
A |
14: 5,943,928 (GRCm38) |
M99L |
probably benign |
Het |
| Gpi-ps |
A |
T |
8: 5,689,896 (GRCm39) |
|
noncoding transcript |
Het |
| Hspa9 |
G |
A |
18: 35,081,028 (GRCm39) |
R218* |
probably null |
Het |
| Ikbip |
G |
A |
10: 90,929,119 (GRCm39) |
|
probably null |
Het |
| Kcnb2 |
C |
T |
1: 15,781,033 (GRCm39) |
T635M |
probably benign |
Het |
| Krtap29-1 |
T |
A |
11: 99,869,105 (GRCm39) |
I259F |
possibly damaging |
Het |
| Lnpep |
T |
C |
17: 17,791,219 (GRCm39) |
T442A |
probably benign |
Het |
| Mgat1 |
T |
A |
11: 49,151,562 (GRCm39) |
I15N |
probably damaging |
Het |
| Nlrp9c |
A |
T |
7: 26,084,576 (GRCm39) |
S334R |
probably benign |
Het |
| Notch2 |
A |
T |
3: 98,054,612 (GRCm39) |
D2425V |
probably damaging |
Het |
| Ntn1 |
C |
T |
11: 68,104,089 (GRCm39) |
V520M |
probably damaging |
Het |
| Or10d1b |
A |
G |
9: 39,613,549 (GRCm39) |
V172A |
probably damaging |
Het |
| Or4p18 |
T |
A |
2: 88,232,421 (GRCm39) |
T286S |
possibly damaging |
Het |
| Or5d39 |
A |
T |
2: 87,979,922 (GRCm39) |
V147E |
probably damaging |
Het |
| Or6c3b |
T |
A |
10: 129,527,887 (GRCm39) |
T8S |
probably benign |
Het |
| Or8g55 |
A |
T |
9: 39,784,781 (GRCm39) |
D70V |
probably damaging |
Het |
| Or8k39 |
A |
C |
2: 86,563,521 (GRCm39) |
I145R |
possibly damaging |
Het |
| Osr2 |
A |
G |
15: 35,302,138 (GRCm39) |
H246R |
probably damaging |
Het |
| Papolg |
T |
C |
11: 23,829,898 (GRCm39) |
R224G |
probably damaging |
Het |
| Pax6 |
T |
A |
2: 105,522,623 (GRCm39) |
|
probably null |
Het |
| Pcyox1 |
A |
G |
6: 86,369,250 (GRCm39) |
V192A |
probably benign |
Het |
| Phf1 |
C |
T |
17: 27,154,260 (GRCm39) |
A159V |
possibly damaging |
Het |
| Psmb9 |
T |
A |
17: 34,402,653 (GRCm39) |
K109M |
probably damaging |
Het |
| Ptprt |
T |
A |
2: 161,769,593 (GRCm39) |
Y424F |
probably benign |
Het |
| Ptrh2 |
A |
G |
11: 86,580,592 (GRCm39) |
I70V |
probably benign |
Het |
| Rnf213 |
G |
A |
11: 119,309,135 (GRCm39) |
|
probably benign |
Het |
| Rom1 |
T |
A |
19: 8,905,368 (GRCm39) |
I271F |
probably benign |
Het |
| Satb2 |
T |
A |
1: 56,835,952 (GRCm39) |
D731V |
possibly damaging |
Het |
| Serpinb7 |
G |
T |
1: 107,375,859 (GRCm39) |
G159V |
possibly damaging |
Het |
| Slit1 |
T |
C |
19: 41,634,579 (GRCm39) |
I393V |
probably damaging |
Het |
| Spata20 |
T |
A |
11: 94,374,289 (GRCm39) |
D327V |
probably damaging |
Het |
| Spata31e3 |
G |
A |
13: 50,400,721 (GRCm39) |
P535L |
probably benign |
Het |
| Spmap2l |
A |
T |
5: 77,208,605 (GRCm39) |
I378L |
probably benign |
Het |
| Tbc1d32 |
G |
T |
10: 56,027,871 (GRCm39) |
Q744K |
possibly damaging |
Het |
| Tmem108 |
G |
T |
9: 103,366,439 (GRCm39) |
N517K |
possibly damaging |
Het |
| Trp63 |
T |
A |
16: 25,681,211 (GRCm39) |
N160K |
probably damaging |
Het |
| Ttll5 |
T |
C |
12: 85,980,385 (GRCm39) |
S119P |
probably damaging |
Het |
| Ubqln3 |
T |
A |
7: 103,791,523 (GRCm39) |
Q189L |
probably damaging |
Het |
| Vwa5a |
G |
A |
9: 38,649,072 (GRCm39) |
R638H |
probably benign |
Het |
| Wdr3 |
A |
G |
3: 100,058,298 (GRCm39) |
S436P |
probably damaging |
Het |
| Zfp975 |
A |
T |
7: 42,312,215 (GRCm39) |
C133S |
probably damaging |
Het |
| Zfp976 |
A |
T |
7: 42,263,656 (GRCm39) |
|
probably benign |
Het |
| Zmiz1 |
A |
G |
14: 25,657,303 (GRCm39) |
M860V |
probably damaging |
Het |
| Zscan4d |
T |
C |
7: 10,896,296 (GRCm39) |
E358G |
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 |
|
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 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation