Incidental Mutation 'R9302:Pmfbp1'
| ID |
705013 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pmfbp1
|
| Ensembl Gene |
ENSMUSG00000031727 |
| Gene Name |
polyamine modulated factor 1 binding protein 1 |
| Synonyms |
1700016D22Rik, F77 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R9302 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
110220659-110269272 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 110268474 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 1007
(D1007V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034162
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034162]
|
| AlphaFold |
Q9WVQ0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034162
AA Change: D1007V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034162
Gene: ENSMUSG00000031727
AA Change: D1007V
| 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 |
|
| Meta Mutation Damage Score |
0.2345 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (54/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aar2 |
T |
C |
2: 156,392,956 (GRCm39) |
L115P |
probably damaging |
Het |
| Acsl1 |
T |
A |
8: 46,983,470 (GRCm39) |
D494E |
probably damaging |
Het |
| Adgrl1 |
T |
C |
8: 84,656,426 (GRCm39) |
V243A |
possibly damaging |
Het |
| Ak9 |
A |
T |
10: 41,196,486 (GRCm39) |
I103F |
|
Het |
| Ank3 |
C |
T |
10: 69,761,849 (GRCm39) |
|
probably benign |
Het |
| Ano4 |
T |
A |
10: 88,831,220 (GRCm39) |
I468L |
probably benign |
Het |
| Anxa2r1 |
A |
G |
13: 120,496,626 (GRCm39) |
I81T |
probably benign |
Het |
| Arhgef10l |
G |
A |
4: 140,242,548 (GRCm39) |
S959L |
probably benign |
Het |
| Cdh23 |
G |
A |
10: 60,143,306 (GRCm39) |
A3005V |
possibly damaging |
Het |
| Cfap221 |
T |
C |
1: 119,853,365 (GRCm39) |
I776M |
probably benign |
Het |
| Col3a1 |
C |
T |
1: 45,350,980 (GRCm39) |
Q25* |
probably null |
Het |
| Crabp2 |
C |
A |
3: 87,859,833 (GRCm39) |
L100I |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,240,032 (GRCm39) |
D463G |
probably benign |
Het |
| Dst |
T |
C |
1: 34,264,636 (GRCm39) |
L2602P |
probably damaging |
Het |
| Dusp1 |
A |
G |
17: 26,726,148 (GRCm39) |
Y182H |
probably damaging |
Het |
| Fhip1a |
C |
A |
3: 85,579,941 (GRCm39) |
D755Y |
probably damaging |
Het |
| Fras1 |
T |
A |
5: 96,682,751 (GRCm39) |
C83S |
probably damaging |
Het |
| Frrs1 |
G |
T |
3: 116,692,899 (GRCm39) |
|
probably null |
Het |
| Gcnt3 |
A |
G |
9: 69,942,529 (GRCm39) |
L13P |
possibly damaging |
Het |
| Gm8094 |
T |
C |
14: 42,932,834 (GRCm39) |
D88G |
probably benign |
Het |
| Hfe |
C |
T |
13: 23,890,025 (GRCm39) |
M249I |
probably benign |
Het |
| Hipk1 |
T |
C |
3: 103,685,099 (GRCm39) |
E172G |
probably benign |
Het |
| Iws1 |
G |
A |
18: 32,213,213 (GRCm39) |
E214K |
possibly damaging |
Het |
| Ltb4r2 |
A |
T |
14: 55,999,733 (GRCm39) |
Q118L |
probably damaging |
Het |
| Ltbp4 |
A |
T |
7: 27,008,481 (GRCm39) |
C1342S |
possibly damaging |
Het |
| Lyst |
A |
G |
13: 13,904,947 (GRCm39) |
D3208G |
possibly damaging |
Het |
| Mbnl2 |
A |
G |
14: 120,622,950 (GRCm39) |
T163A |
probably benign |
Het |
| Mre11a |
T |
A |
9: 14,696,826 (GRCm39) |
|
probably null |
Het |
| Myo15b |
A |
G |
11: 115,776,238 (GRCm39) |
N610D |
possibly damaging |
Het |
| Nt5c1b |
T |
C |
12: 10,430,882 (GRCm39) |
S390P |
probably damaging |
Het |
| Or10ag53 |
T |
A |
2: 87,082,906 (GRCm39) |
F208L |
probably benign |
Het |
| Pde3b |
A |
G |
7: 114,122,621 (GRCm39) |
T730A |
probably damaging |
Het |
| Pdzd2 |
G |
T |
15: 12,374,342 (GRCm39) |
T1931N |
possibly damaging |
Het |
| Pla2g15 |
C |
T |
8: 106,877,201 (GRCm39) |
A28V |
probably benign |
Het |
| Polr1a |
T |
A |
6: 71,901,683 (GRCm39) |
|
probably null |
Het |
| Ppp1r3a |
T |
C |
6: 14,721,891 (GRCm39) |
K312E |
probably benign |
Het |
| Prmt5 |
G |
A |
14: 54,749,583 (GRCm39) |
T269I |
probably benign |
Het |
| Pwp2 |
A |
G |
10: 78,009,540 (GRCm39) |
S793P |
probably benign |
Het |
| Rbm12b1 |
C |
A |
4: 12,146,181 (GRCm39) |
H718N |
probably benign |
Het |
| Rfx1 |
T |
A |
8: 84,817,662 (GRCm39) |
M512K |
possibly damaging |
Het |
| Rp1 |
T |
C |
1: 4,416,789 (GRCm39) |
E1441G |
probably damaging |
Het |
| Slc16a6 |
C |
T |
11: 109,350,634 (GRCm39) |
V207I |
probably benign |
Het |
| Slc6a9 |
G |
A |
4: 117,706,596 (GRCm39) |
R7H |
possibly damaging |
Het |
| Sptlc1 |
A |
T |
13: 53,528,047 (GRCm39) |
V39D |
probably benign |
Het |
| Strc |
A |
T |
2: 121,211,336 (GRCm39) |
L3Q |
unknown |
Het |
| Svep1 |
C |
T |
4: 58,120,565 (GRCm39) |
E823K |
possibly damaging |
Het |
| Tat |
A |
G |
8: 110,725,031 (GRCm39) |
|
probably benign |
Het |
| Thoc1 |
T |
A |
18: 9,968,800 (GRCm39) |
N190K |
possibly damaging |
Het |
| Tomt |
T |
C |
7: 101,549,826 (GRCm39) |
E154G |
probably damaging |
Het |
| Topaz1 |
T |
A |
9: 122,617,887 (GRCm39) |
V1228E |
possibly damaging |
Het |
| Trim55 |
G |
A |
3: 19,727,153 (GRCm39) |
V407M |
probably benign |
Het |
| Ttll5 |
T |
A |
12: 85,873,338 (GRCm39) |
M5K |
possibly damaging |
Het |
| Ugt2a2 |
A |
C |
5: 87,609,940 (GRCm39) |
Y380* |
probably null |
Het |
| Usp46 |
A |
G |
5: 74,163,922 (GRCm39) |
Y272H |
probably benign |
Het |
| Vps39 |
A |
T |
2: 120,151,525 (GRCm39) |
|
probably benign |
Het |
| Zfp12 |
T |
A |
5: 143,230,421 (GRCm39) |
H281Q |
probably damaging |
Het |
| Zfp142 |
C |
A |
1: 74,606,302 (GRCm39) |
R1756L |
probably damaging |
Het |
| Zmynd10 |
T |
A |
9: 107,426,516 (GRCm39) |
I183K |
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 |
|
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 |
|
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'- AGCCACCTCCACAATGTAATGG -3'
(R):5'- CTAGGCAAGCTAAGTGGGTGAC -3'
Sequencing Primer
(F):5'- ATGTAATGGTCCACCTGCAG -3'
(R):5'- GTGACCAAAGGTTTGTAGTAACC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation