Incidental Mutation 'R7039:Ppfia4'
| ID |
546909 |
| 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 |
045139-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
R7039 (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 134239853 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 908
(S908L)
|
| 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: S908L
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000128314
Gene: ENSMUSG00000026458
AA Change: S908L
| 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 |
possibly damaging
Transcript: ENSMUST00000186730
AA Change: S625L
PolyPhen 2
Score 0.720 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000139800
Gene: ENSMUSG00000026458
AA Change: S625L
| 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 |
possibly damaging
Transcript: ENSMUST00000189361
AA Change: S908L
PolyPhen 2
Score 0.715 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000139833
Gene: ENSMUSG00000026458
AA Change: S908L
| 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: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl7b |
A |
T |
4: 56,741,022 (GRCm39) |
L112Q |
probably damaging |
Het |
| Agap3 |
A |
C |
5: 24,688,399 (GRCm39) |
I396L |
probably benign |
Het |
| AI987944 |
G |
T |
7: 41,023,880 (GRCm39) |
S366R |
probably benign |
Het |
| Aox3 |
A |
G |
1: 58,215,714 (GRCm39) |
T1049A |
probably damaging |
Het |
| Ap1g2 |
A |
T |
14: 55,340,111 (GRCm39) |
L407* |
probably null |
Het |
| Baiap3 |
G |
A |
17: 25,462,814 (GRCm39) |
R1075C |
probably benign |
Het |
| Brd3 |
T |
C |
2: 27,346,929 (GRCm39) |
K402E |
probably damaging |
Het |
| Cc2d2b |
A |
T |
19: 40,790,845 (GRCm39) |
D935V |
probably damaging |
Het |
| Cenpe |
A |
G |
3: 134,961,217 (GRCm39) |
N1904D |
probably benign |
Het |
| Cfap74 |
G |
T |
4: 155,538,565 (GRCm39) |
|
probably null |
Het |
| Chrdl2 |
A |
G |
7: 99,677,879 (GRCm39) |
T261A |
probably damaging |
Het |
| Cyp4a14 |
G |
A |
4: 115,348,278 (GRCm39) |
R400C |
probably benign |
Het |
| Dhfr |
G |
A |
13: 92,491,791 (GRCm39) |
V9I |
probably benign |
Het |
| Epha4 |
A |
G |
1: 77,483,422 (GRCm39) |
S196P |
probably damaging |
Het |
| Evc2 |
T |
A |
5: 37,579,232 (GRCm39) |
L1115Q |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 16,287,561 (GRCm39) |
E654V |
probably damaging |
Het |
| Fcgbpl1 |
G |
A |
7: 27,839,573 (GRCm39) |
R462Q |
possibly damaging |
Het |
| Fer1l4 |
C |
T |
2: 155,878,650 (GRCm39) |
V14I |
probably benign |
Het |
| Frmd5 |
A |
T |
2: 121,378,128 (GRCm39) |
|
probably benign |
Het |
| Helz |
T |
C |
11: 107,510,144 (GRCm39) |
|
probably null |
Het |
| Igkv6-13 |
T |
C |
6: 70,434,498 (GRCm39) |
S116G |
probably benign |
Het |
| Iscu |
T |
C |
5: 113,914,833 (GRCm39) |
V115A |
possibly damaging |
Het |
| Jade2 |
C |
A |
11: 51,719,186 (GRCm39) |
K253N |
probably damaging |
Het |
| Katnal2 |
A |
G |
18: 77,134,868 (GRCm39) |
|
probably null |
Het |
| Kif13a |
C |
T |
13: 46,905,931 (GRCm39) |
V671M |
possibly damaging |
Het |
| Magi3 |
T |
C |
3: 103,958,699 (GRCm39) |
D462G |
probably damaging |
Het |
| Map3k14 |
T |
C |
11: 103,111,861 (GRCm39) |
N940S |
probably damaging |
Het |
| Masp2 |
A |
T |
4: 148,687,043 (GRCm39) |
M1L |
probably benign |
Het |
| Mga |
G |
A |
2: 119,763,159 (GRCm39) |
V1272I |
probably benign |
Het |
| Mib2 |
T |
C |
4: 155,744,158 (GRCm39) |
D168G |
probably damaging |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Msto1 |
A |
C |
3: 88,818,697 (GRCm39) |
V287G |
probably damaging |
Het |
| Myo5b |
T |
A |
18: 74,834,599 (GRCm39) |
D886E |
probably benign |
Het |
| Nek10 |
T |
C |
14: 14,826,946 (GRCm38) |
I48T |
possibly damaging |
Het |
| Nek10 |
A |
T |
14: 14,986,700 (GRCm38) |
R1013W |
probably damaging |
Het |
| Nipsnap3a |
T |
C |
4: 53,000,130 (GRCm39) |
V194A |
probably damaging |
Het |
| Nlrp9a |
A |
T |
7: 26,267,367 (GRCm39) |
T766S |
probably benign |
Het |
| Nol10 |
T |
A |
12: 17,479,185 (GRCm39) |
S672T |
possibly damaging |
Het |
| Or4a80 |
A |
T |
2: 89,583,095 (GRCm39) |
F26I |
probably benign |
Het |
| Or4c121 |
A |
T |
2: 89,023,790 (GRCm39) |
I196N |
probably damaging |
Het |
| Or8d1b |
T |
A |
9: 38,887,283 (GRCm39) |
F104I |
probably damaging |
Het |
| Or8j3c |
A |
T |
2: 86,253,177 (GRCm39) |
I281K |
possibly damaging |
Het |
| Patj |
T |
A |
4: 98,457,315 (GRCm39) |
N1272K |
probably damaging |
Het |
| Peak1 |
T |
C |
9: 56,165,093 (GRCm39) |
E945G |
probably benign |
Het |
| Peg3 |
C |
T |
7: 6,720,858 (GRCm39) |
D16N |
probably damaging |
Het |
| Pik3r4 |
T |
G |
9: 105,554,089 (GRCm39) |
I1082M |
possibly damaging |
Het |
| Plekhg5 |
T |
A |
4: 152,192,242 (GRCm39) |
M472K |
possibly damaging |
Het |
| Plekhm1 |
T |
C |
11: 103,286,054 (GRCm39) |
D127G |
probably damaging |
Het |
| Psmc3 |
A |
G |
2: 90,885,391 (GRCm39) |
N60S |
probably benign |
Het |
| Rapgef1 |
T |
A |
2: 29,616,226 (GRCm39) |
D697E |
probably damaging |
Het |
| Rapgef3 |
T |
A |
15: 97,659,449 (GRCm39) |
H54L |
probably benign |
Het |
| Rhobtb3 |
G |
A |
13: 76,020,572 (GRCm39) |
R577* |
probably null |
Het |
| Safb2 |
T |
C |
17: 56,871,594 (GRCm39) |
E218G |
possibly damaging |
Het |
| Scaf1 |
C |
T |
7: 44,657,850 (GRCm39) |
R343H |
probably damaging |
Het |
| Snx24 |
G |
A |
18: 53,473,307 (GRCm39) |
|
probably null |
Het |
| Tbc1d1 |
T |
C |
5: 64,442,100 (GRCm39) |
F707L |
probably benign |
Het |
| Tcaf2 |
T |
C |
6: 42,603,074 (GRCm39) |
T829A |
probably damaging |
Het |
| Tcea2 |
C |
T |
2: 181,328,711 (GRCm39) |
Q248* |
probably null |
Het |
| Tcirg1 |
A |
T |
19: 3,946,666 (GRCm39) |
L729Q |
probably damaging |
Het |
| Thap3 |
A |
G |
4: 152,070,149 (GRCm39) |
F82L |
probably damaging |
Het |
| Ttk |
T |
A |
9: 83,750,145 (GRCm39) |
M700K |
probably damaging |
Het |
| Ubap2l |
G |
T |
3: 89,909,662 (GRCm39) |
P56H |
probably damaging |
Het |
| Ubr2 |
A |
G |
17: 47,321,139 (GRCm39) |
S3P |
probably benign |
Het |
| Uchl3 |
C |
T |
14: 101,923,128 (GRCm39) |
|
probably benign |
Het |
| Vmn2r111 |
T |
A |
17: 22,767,165 (GRCm39) |
E777D |
probably damaging |
Het |
| Vmn2r20 |
A |
T |
6: 123,363,082 (GRCm39) |
D567E |
probably damaging |
Het |
| Vps13c |
T |
G |
9: 67,845,045 (GRCm39) |
L2043R |
probably damaging |
Het |
| Zan |
T |
G |
5: 137,398,396 (GRCm39) |
D4212A |
unknown |
Het |
| Zap70 |
C |
T |
1: 36,817,832 (GRCm39) |
P278S |
probably benign |
Het |
| Zbtb8b |
A |
T |
4: 129,321,478 (GRCm39) |
M461K |
possibly damaging |
Het |
| Zfat |
T |
G |
15: 68,052,211 (GRCm39) |
I528L |
probably benign |
Het |
| Zfp532 |
T |
G |
18: 65,771,834 (GRCm39) |
V784G |
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 |
|
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'- CCAGGCAACATCAGGGATAC -3'
(R):5'- TGGAGATCTGGTTCTCTGCC -3'
Sequencing Primer
(F):5'- ATACTGGATCCCTGCCAGC -3'
(R):5'- TACCTGACAATAACTGCAGATCTGGG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation