Incidental Mutation 'R0468:Pmfbp1'
| ID |
41751 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pmfbp1
|
| Ensembl Gene |
ENSMUSG00000031727 |
| Gene Name |
polyamine modulated factor 1 binding protein 1 |
| Synonyms |
1700016D22Rik, F77 |
| MMRRC Submission |
038668-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R0468 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
110220659-110269272 bp(+) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 110240600 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034162
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034162]
|
| AlphaFold |
Q9WVQ0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000034162
|
| SMART Domains |
Protein: ENSMUSP00000034162
Gene: ENSMUSG00000031727
| 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
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.2%
|
| Validation Efficiency |
100% (61/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
A |
G |
12: 71,240,084 (GRCm39) |
H1298R |
possibly damaging |
Het |
| 5530400C23Rik |
T |
C |
6: 133,271,421 (GRCm39) |
L155P |
probably benign |
Het |
| 6820408C15Rik |
A |
T |
2: 152,283,186 (GRCm39) |
R283S |
probably benign |
Het |
| Aldh1l2 |
T |
A |
10: 83,354,542 (GRCm39) |
E104D |
probably benign |
Het |
| Anxa3 |
T |
C |
5: 96,958,958 (GRCm39) |
V22A |
probably benign |
Het |
| Bcl7b |
T |
C |
5: 135,209,737 (GRCm39) |
F188L |
probably benign |
Het |
| Brinp1 |
T |
A |
4: 68,681,013 (GRCm39) |
I506F |
probably damaging |
Het |
| Bsdc1 |
T |
C |
4: 129,355,511 (GRCm39) |
|
probably benign |
Het |
| Ccdc180 |
T |
C |
4: 45,923,271 (GRCm39) |
I1075T |
possibly damaging |
Het |
| Cep162 |
A |
G |
9: 87,075,750 (GRCm39) |
L1294P |
probably damaging |
Het |
| Cltc |
G |
A |
11: 86,595,452 (GRCm39) |
|
probably benign |
Het |
| Col11a1 |
T |
C |
3: 114,010,707 (GRCm39) |
|
probably benign |
Het |
| Col14a1 |
A |
T |
15: 55,252,042 (GRCm39) |
Y566F |
unknown |
Het |
| Dhx29 |
A |
G |
13: 113,099,811 (GRCm39) |
Q1148R |
probably benign |
Het |
| Ehbp1 |
A |
G |
11: 22,119,184 (GRCm39) |
|
probably benign |
Het |
| Ehd3 |
A |
G |
17: 74,112,374 (GRCm39) |
H46R |
probably damaging |
Het |
| Fam171a1 |
T |
C |
2: 3,226,433 (GRCm39) |
V522A |
probably benign |
Het |
| Gm4553 |
C |
A |
7: 141,719,362 (GRCm39) |
C22F |
unknown |
Het |
| Hibadh |
C |
T |
6: 52,534,755 (GRCm39) |
|
probably benign |
Het |
| Hspg2 |
G |
A |
4: 137,260,840 (GRCm39) |
C1613Y |
probably damaging |
Het |
| Hydin |
G |
T |
8: 111,139,855 (GRCm39) |
C708F |
possibly damaging |
Het |
| Ifi208 |
A |
T |
1: 173,511,047 (GRCm39) |
M401L |
probably benign |
Het |
| Igsf8 |
G |
A |
1: 172,146,363 (GRCm39) |
V454M |
probably damaging |
Het |
| Irx4 |
G |
T |
13: 73,414,839 (GRCm39) |
|
probably benign |
Het |
| Kcnh4 |
C |
T |
11: 100,637,758 (GRCm39) |
G633E |
probably benign |
Het |
| Kcnn2 |
C |
T |
18: 45,692,538 (GRCm39) |
T38M |
possibly damaging |
Het |
| L3mbtl3 |
C |
T |
10: 26,203,630 (GRCm39) |
R400H |
unknown |
Het |
| Lrp6 |
T |
C |
6: 134,462,624 (GRCm39) |
T679A |
possibly damaging |
Het |
| Map9 |
T |
C |
3: 82,281,510 (GRCm39) |
|
probably null |
Het |
| Men1 |
T |
A |
19: 6,386,953 (GRCm39) |
V5E |
probably null |
Het |
| Mettl14 |
T |
C |
3: 123,165,061 (GRCm39) |
D93G |
probably damaging |
Het |
| Neb |
G |
T |
2: 52,101,568 (GRCm39) |
R4601S |
probably damaging |
Het |
| Nell1 |
A |
G |
7: 49,878,594 (GRCm39) |
T272A |
probably damaging |
Het |
| Or10ag53 |
A |
T |
2: 87,082,599 (GRCm39) |
N106I |
probably benign |
Het |
| Or2ak6 |
A |
T |
11: 58,592,619 (GRCm39) |
I31F |
probably damaging |
Het |
| Pclo |
C |
A |
5: 14,727,302 (GRCm39) |
|
probably benign |
Het |
| Pdia5 |
A |
G |
16: 35,217,877 (GRCm39) |
L502P |
probably damaging |
Het |
| Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
| Plxna4 |
C |
A |
6: 32,192,181 (GRCm39) |
C803F |
probably damaging |
Het |
| Ptgs1 |
A |
G |
2: 36,139,205 (GRCm39) |
Y468C |
probably damaging |
Het |
| Pxdn |
G |
T |
12: 30,044,485 (GRCm39) |
G488W |
probably damaging |
Het |
| Safb |
C |
T |
17: 56,913,025 (GRCm39) |
R914C |
probably damaging |
Het |
| Sec31b |
T |
A |
19: 44,506,947 (GRCm39) |
|
probably benign |
Het |
| Shank3 |
G |
A |
15: 89,433,478 (GRCm39) |
V1333I |
probably benign |
Het |
| Slamf1 |
A |
G |
1: 171,619,939 (GRCm39) |
|
probably benign |
Het |
| Slc23a3 |
T |
A |
1: 75,109,874 (GRCm39) |
Q131L |
possibly damaging |
Het |
| Slc7a11 |
A |
G |
3: 50,338,500 (GRCm39) |
V303A |
probably damaging |
Het |
| Slc7a13 |
T |
A |
4: 19,841,500 (GRCm39) |
V449D |
probably benign |
Het |
| Srp68 |
A |
T |
11: 116,139,590 (GRCm39) |
I453K |
probably damaging |
Het |
| Steap3 |
A |
T |
1: 120,162,030 (GRCm39) |
V414D |
probably damaging |
Het |
| Tagln2 |
A |
G |
1: 172,333,788 (GRCm39) |
N131D |
probably benign |
Het |
| Tmem132d |
T |
C |
5: 128,346,267 (GRCm39) |
Y85C |
probably damaging |
Het |
| Vcam1 |
A |
T |
3: 115,909,595 (GRCm39) |
Y577* |
probably null |
Het |
| Vmn1r214 |
A |
G |
13: 23,219,423 (GRCm39) |
T306A |
probably benign |
Het |
| Zfyve1 |
A |
T |
12: 83,602,048 (GRCm39) |
|
probably benign |
Het |
| Zgrf1 |
T |
A |
3: 127,355,690 (GRCm39) |
N305K |
possibly 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 |
|
IGL01505:Pmfbp1
|
APN |
8 |
110,240,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAACTCCATCTGGCGCAAGAGC -3'
(R):5'- GCACATCCTTTGATGTAGCAGTCCC -3'
Sequencing Primer
(F):5'- AAGAGCAGCTTGCCTTGG -3'
(R):5'- caaaaaccctaatcaactgagtcc -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation