Incidental Mutation 'IGL01505:Pmfbp1'
| ID |
89038 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pmfbp1
|
| Ensembl Gene |
ENSMUSG00000031727 |
| Gene Name |
polyamine modulated factor 1 binding protein 1 |
| Synonyms |
1700016D22Rik, F77 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
IGL01505
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
110220659-110269272 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 110240543 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 208
(L208F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034162
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034162]
|
| AlphaFold |
Q9WVQ0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034162
AA Change: L208F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034162
Gene: ENSMUSG00000031727
AA Change: L208F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
37 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
38 |
84 |
9.43e-6 |
PROSPERO |
|
coiled coil region
|
89 |
121 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
138 |
178 |
9.43e-6 |
PROSPERO |
|
coiled coil region
|
197 |
223 |
N/A |
INTRINSIC |
|
coiled coil region
|
334 |
377 |
N/A |
INTRINSIC |
|
low complexity region
|
392 |
403 |
N/A |
INTRINSIC |
|
coiled coil region
|
411 |
732 |
N/A |
INTRINSIC |
|
coiled coil region
|
758 |
879 |
N/A |
INTRINSIC |
|
coiled coil region
|
931 |
968 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212003
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930546C10Rik |
T |
C |
18: 69,080,418 (GRCm39) |
|
probably null |
Het |
| A2m |
A |
G |
6: 121,653,906 (GRCm39) |
N1413S |
possibly damaging |
Het |
| Aadacl4fm4 |
C |
T |
4: 144,401,188 (GRCm39) |
V99M |
probably damaging |
Het |
| Arhgap45 |
A |
T |
10: 79,862,376 (GRCm39) |
N488Y |
probably benign |
Het |
| Arid4a |
G |
A |
12: 71,083,889 (GRCm39) |
D94N |
probably damaging |
Het |
| Atp7a |
A |
G |
X: 105,153,436 (GRCm39) |
K1114E |
probably damaging |
Het |
| Atp8a2 |
C |
T |
14: 60,265,512 (GRCm39) |
V275M |
probably benign |
Het |
| Ceacam12 |
T |
C |
7: 17,801,357 (GRCm39) |
V112A |
probably damaging |
Het |
| Cep295 |
T |
A |
9: 15,229,345 (GRCm39) |
D2256V |
probably benign |
Het |
| Chid1 |
A |
T |
7: 141,093,807 (GRCm39) |
|
probably null |
Het |
| Clcn5 |
A |
T |
X: 7,036,678 (GRCm39) |
L268* |
probably null |
Het |
| Cldn17 |
A |
G |
16: 88,303,591 (GRCm39) |
I46T |
possibly damaging |
Het |
| Cnot1 |
A |
T |
8: 96,455,346 (GRCm39) |
I2025N |
probably damaging |
Het |
| Cntn5 |
C |
T |
9: 9,706,092 (GRCm39) |
V574M |
probably damaging |
Het |
| Col14a1 |
T |
A |
15: 55,318,619 (GRCm39) |
C1373S |
unknown |
Het |
| Col9a1 |
A |
G |
1: 24,224,205 (GRCm39) |
N129S |
unknown |
Het |
| Cp |
C |
T |
3: 20,031,356 (GRCm39) |
P598S |
possibly damaging |
Het |
| Cpb1 |
G |
A |
3: 20,320,410 (GRCm39) |
R150C |
probably damaging |
Het |
| Cyp2j7 |
T |
A |
4: 96,115,917 (GRCm39) |
|
probably null |
Het |
| Dnajb7 |
T |
C |
15: 81,291,692 (GRCm39) |
E215G |
possibly damaging |
Het |
| Dock1 |
G |
A |
7: 134,760,239 (GRCm39) |
R1634Q |
possibly damaging |
Het |
| Dop1b |
A |
G |
16: 93,554,004 (GRCm39) |
T313A |
possibly damaging |
Het |
| Fgd2 |
T |
A |
17: 29,585,971 (GRCm39) |
V185E |
probably damaging |
Het |
| Flnb |
T |
C |
14: 7,902,003 (GRCm38) |
|
probably null |
Het |
| Fzd7 |
A |
G |
1: 59,523,062 (GRCm39) |
E315G |
probably benign |
Het |
| Gjd3 |
T |
A |
11: 102,691,552 (GRCm39) |
K150N |
probably benign |
Het |
| Gpihbp1 |
C |
T |
15: 75,469,977 (GRCm39) |
|
probably benign |
Het |
| Gpr160 |
T |
C |
3: 30,950,002 (GRCm39) |
S25P |
possibly damaging |
Het |
| Grsf1 |
G |
A |
5: 88,820,608 (GRCm39) |
R58* |
probably null |
Het |
| Ifit1 |
T |
A |
19: 34,625,854 (GRCm39) |
M330K |
probably benign |
Het |
| Igkv1-122 |
T |
C |
6: 67,994,178 (GRCm39) |
V22A |
probably benign |
Het |
| Ikbke |
A |
T |
1: 131,183,048 (GRCm39) |
D692E |
probably benign |
Het |
| Il15ra |
T |
C |
2: 11,737,956 (GRCm39) |
|
probably benign |
Het |
| Il18rap |
A |
G |
1: 40,576,244 (GRCm39) |
I252V |
probably damaging |
Het |
| Klra10 |
C |
T |
6: 130,249,680 (GRCm39) |
G202R |
probably damaging |
Het |
| Kpna7 |
A |
G |
5: 144,929,661 (GRCm39) |
V388A |
probably damaging |
Het |
| L2hgdh |
A |
G |
12: 69,768,175 (GRCm39) |
S108P |
probably damaging |
Het |
| Msto1 |
G |
A |
3: 88,818,050 (GRCm39) |
T388M |
probably benign |
Het |
| Naip1 |
T |
C |
13: 100,562,441 (GRCm39) |
E908G |
probably damaging |
Het |
| Neto1 |
C |
A |
18: 86,491,814 (GRCm39) |
D238E |
possibly damaging |
Het |
| Nlrp5 |
T |
A |
7: 23,117,159 (GRCm39) |
D294E |
probably benign |
Het |
| Nr3c2 |
T |
C |
8: 77,635,816 (GRCm39) |
S306P |
probably damaging |
Het |
| Or8b41 |
T |
A |
9: 38,055,167 (GRCm39) |
C240* |
probably null |
Het |
| Pard3 |
T |
A |
8: 128,050,544 (GRCm39) |
L202H |
probably damaging |
Het |
| Pdzd2 |
T |
C |
15: 12,458,293 (GRCm39) |
N190S |
probably damaging |
Het |
| Pi4ka |
T |
C |
16: 17,127,222 (GRCm39) |
D1077G |
probably benign |
Het |
| Pms1 |
C |
T |
1: 53,246,130 (GRCm39) |
D470N |
probably benign |
Het |
| Prdm10 |
T |
C |
9: 31,238,578 (GRCm39) |
F108L |
probably benign |
Het |
| Rab11fip1 |
A |
T |
8: 27,644,804 (GRCm39) |
M327K |
possibly damaging |
Het |
| Slc37a4 |
T |
A |
9: 44,311,261 (GRCm39) |
L184Q |
probably damaging |
Het |
| Smdt1 |
T |
C |
15: 82,232,094 (GRCm39) |
|
probably benign |
Het |
| Smg6 |
A |
G |
11: 75,047,117 (GRCm39) |
Y1270C |
probably damaging |
Het |
| Speer4f2 |
T |
A |
5: 17,581,565 (GRCm39) |
V169E |
possibly damaging |
Het |
| Stpg2 |
C |
T |
3: 139,023,214 (GRCm39) |
A410V |
probably benign |
Het |
| Tnrc6b |
T |
A |
15: 80,764,164 (GRCm39) |
D555E |
probably benign |
Het |
| Tsg101 |
A |
G |
7: 46,558,808 (GRCm39) |
Y46H |
probably damaging |
Het |
| Vmn2r111 |
G |
A |
17: 22,767,553 (GRCm39) |
S648L |
probably benign |
Het |
| Vmn2r73 |
T |
A |
7: 85,507,267 (GRCm39) |
R682* |
probably null |
Het |
| Xkr5 |
A |
T |
8: 18,983,514 (GRCm39) |
I676N |
probably damaging |
Het |
|
| Other mutations in Pmfbp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01021:Pmfbp1
|
APN |
8 |
110,264,625 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL01609:Pmfbp1
|
APN |
8 |
110,254,348 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02066:Pmfbp1
|
APN |
8 |
110,268,365 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL02926:Pmfbp1
|
APN |
8 |
110,246,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03374:Pmfbp1
|
APN |
8 |
110,269,046 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0022:Pmfbp1
|
UTSW |
8 |
110,252,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0022:Pmfbp1
|
UTSW |
8 |
110,252,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0046:Pmfbp1
|
UTSW |
8 |
110,262,617 (GRCm39) |
splice site |
probably benign |
|
|
R0068:Pmfbp1
|
UTSW |
8 |
110,269,011 (GRCm39) |
splice site |
probably benign |
|
|
R0211:Pmfbp1
|
UTSW |
8 |
110,268,372 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0244:Pmfbp1
|
UTSW |
8 |
110,268,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0468:Pmfbp1
|
UTSW |
8 |
110,240,600 (GRCm39) |
splice site |
probably null |
|
|
R0479:Pmfbp1
|
UTSW |
8 |
110,257,105 (GRCm39) |
splice site |
probably benign |
|
|
R1124:Pmfbp1
|
UTSW |
8 |
110,257,115 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1332:Pmfbp1
|
UTSW |
8 |
110,256,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1336:Pmfbp1
|
UTSW |
8 |
110,256,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1621:Pmfbp1
|
UTSW |
8 |
110,226,170 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1961:Pmfbp1
|
UTSW |
8 |
110,256,776 (GRCm39) |
splice site |
probably benign |
|
|
R2069:Pmfbp1
|
UTSW |
8 |
110,258,735 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R2125:Pmfbp1
|
UTSW |
8 |
110,246,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2889:Pmfbp1
|
UTSW |
8 |
110,252,063 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3034:Pmfbp1
|
UTSW |
8 |
110,247,553 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3956:Pmfbp1
|
UTSW |
8 |
110,256,801 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4085:Pmfbp1
|
UTSW |
8 |
110,221,579 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4191:Pmfbp1
|
UTSW |
8 |
110,254,260 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4410:Pmfbp1
|
UTSW |
8 |
110,258,695 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4418:Pmfbp1
|
UTSW |
8 |
110,257,265 (GRCm39) |
missense |
probably benign |
0.36 |
|
R4888:Pmfbp1
|
UTSW |
8 |
110,258,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4937:Pmfbp1
|
UTSW |
8 |
110,262,498 (GRCm39) |
missense |
probably benign |
|
|
R5070:Pmfbp1
|
UTSW |
8 |
110,256,787 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5184:Pmfbp1
|
UTSW |
8 |
110,254,399 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5552:Pmfbp1
|
UTSW |
8 |
110,258,383 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5609:Pmfbp1
|
UTSW |
8 |
110,251,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5760:Pmfbp1
|
UTSW |
8 |
110,247,655 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5818:Pmfbp1
|
UTSW |
8 |
110,265,311 (GRCm39) |
splice site |
probably null |
|
|
R6378:Pmfbp1
|
UTSW |
8 |
110,256,898 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6496:Pmfbp1
|
UTSW |
8 |
110,258,789 (GRCm39) |
missense |
probably null |
0.04 |
|
R6550:Pmfbp1
|
UTSW |
8 |
110,246,839 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6565:Pmfbp1
|
UTSW |
8 |
110,252,060 (GRCm39) |
nonsense |
probably null |
|
|
R6624:Pmfbp1
|
UTSW |
8 |
110,256,822 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6684:Pmfbp1
|
UTSW |
8 |
110,262,462 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6823:Pmfbp1
|
UTSW |
8 |
110,256,939 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6833:Pmfbp1
|
UTSW |
8 |
110,265,307 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6940:Pmfbp1
|
UTSW |
8 |
110,251,823 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7000:Pmfbp1
|
UTSW |
8 |
110,257,221 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7411:Pmfbp1
|
UTSW |
8 |
110,240,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7563:Pmfbp1
|
UTSW |
8 |
110,252,006 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7782:Pmfbp1
|
UTSW |
8 |
110,254,412 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8115:Pmfbp1
|
UTSW |
8 |
110,263,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8712:Pmfbp1
|
UTSW |
8 |
110,265,309 (GRCm39) |
splice site |
probably benign |
|
|
R8954:Pmfbp1
|
UTSW |
8 |
110,258,433 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9054:Pmfbp1
|
UTSW |
8 |
110,247,661 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9067:Pmfbp1
|
UTSW |
8 |
110,263,244 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9211:Pmfbp1
|
UTSW |
8 |
110,262,445 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9237:Pmfbp1
|
UTSW |
8 |
110,246,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9275:Pmfbp1
|
UTSW |
8 |
110,262,471 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9293:Pmfbp1
|
UTSW |
8 |
110,263,205 (GRCm39) |
missense |
probably benign |
0.38 |
|
R9302:Pmfbp1
|
UTSW |
8 |
110,268,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9539:Pmfbp1
|
UTSW |
8 |
110,240,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0065:Pmfbp1
|
UTSW |
8 |
110,262,499 (GRCm39) |
missense |
probably benign |
0.25 |
|
Z1088:Pmfbp1
|
UTSW |
8 |
110,240,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Pmfbp1
|
UTSW |
8 |
110,258,383 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2013-12-03 |
Incidental Mutation