Incidental Mutation 'R7563:Pmfbp1'
| ID |
585265 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pmfbp1
|
| Ensembl Gene |
ENSMUSG00000031727 |
| Gene Name |
polyamine modulated factor 1 binding protein 1 |
| Synonyms |
1700016D22Rik, F77 |
| MMRRC Submission |
045655-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R7563 (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 G
at 110252006 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 384
(K384E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034162
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034162]
|
| AlphaFold |
Q9WVQ0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034162
AA Change: K384E
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000034162
Gene: ENSMUSG00000031727
AA Change: K384E
| 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 |
0.1712 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (56/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl3 |
A |
G |
4: 144,184,464 (GRCm39) |
I98T |
probably damaging |
Het |
| Ahnak |
T |
C |
19: 8,988,529 (GRCm39) |
I3271T |
probably damaging |
Het |
| Aox1 |
G |
A |
1: 58,086,304 (GRCm39) |
V70I |
probably benign |
Het |
| Ap1g2 |
A |
G |
14: 55,337,206 (GRCm39) |
S710P |
probably damaging |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Cacna1e |
T |
C |
1: 154,347,162 (GRCm39) |
K1064E |
probably benign |
Het |
| Capn11 |
T |
A |
17: 45,944,891 (GRCm39) |
I459F |
probably damaging |
Het |
| Ccnc |
A |
G |
4: 21,732,220 (GRCm39) |
I48V |
probably damaging |
Het |
| Ces1d |
T |
A |
8: 93,904,667 (GRCm39) |
I358F |
probably benign |
Het |
| Clgn |
A |
T |
8: 84,147,185 (GRCm39) |
N379I |
probably damaging |
Het |
| Cym |
T |
C |
3: 107,121,548 (GRCm39) |
Y248C |
probably damaging |
Het |
| Epha8 |
T |
C |
4: 136,666,100 (GRCm39) |
D352G |
possibly damaging |
Het |
| Eya2 |
T |
C |
2: 165,558,050 (GRCm39) |
|
probably null |
Het |
| Fam219a |
A |
C |
4: 41,569,208 (GRCm39) |
V10G |
probably benign |
Het |
| Fbxl5 |
C |
T |
5: 43,978,891 (GRCm39) |
V20I |
probably benign |
Het |
| Fbxl9 |
A |
G |
8: 106,042,388 (GRCm39) |
C147R |
probably benign |
Het |
| Fscb |
T |
C |
12: 64,520,059 (GRCm39) |
E469G |
possibly damaging |
Het |
| Glt8d2 |
A |
T |
10: 82,496,659 (GRCm39) |
|
probably null |
Het |
| Grep1 |
A |
T |
17: 23,936,302 (GRCm39) |
F8L |
probably benign |
Het |
| Helt |
T |
C |
8: 46,746,630 (GRCm39) |
|
probably benign |
Het |
| Igkv8-27 |
G |
T |
6: 70,148,887 (GRCm39) |
T89K |
probably benign |
Het |
| Ipo5 |
T |
A |
14: 121,183,567 (GRCm39) |
H1048Q |
probably benign |
Het |
| Kalrn |
T |
C |
16: 34,212,464 (GRCm39) |
D28G |
probably damaging |
Het |
| Kcnh4 |
G |
A |
11: 100,632,680 (GRCm39) |
P936S |
probably benign |
Het |
| Klrd1 |
A |
G |
6: 129,570,701 (GRCm39) |
I37M |
possibly damaging |
Het |
| Kmt2e |
T |
C |
5: 23,705,271 (GRCm39) |
V1267A |
probably damaging |
Het |
| Marchf1 |
A |
T |
8: 66,920,965 (GRCm39) |
Q214L |
probably damaging |
Het |
| Mlip |
G |
T |
9: 77,020,279 (GRCm39) |
H52N |
probably damaging |
Het |
| Oas1e |
T |
C |
5: 120,927,021 (GRCm39) |
R229G |
probably benign |
Het |
| Ogfr |
T |
A |
2: 180,234,300 (GRCm39) |
|
probably null |
Het |
| Or4g16 |
T |
C |
2: 111,137,134 (GRCm39) |
F195L |
probably benign |
Het |
| Or5m10 |
T |
A |
2: 85,717,482 (GRCm39) |
Y113N |
probably damaging |
Het |
| Pde4d |
T |
C |
13: 110,087,541 (GRCm39) |
I636T |
probably benign |
Het |
| Pex5l |
C |
T |
3: 33,008,625 (GRCm39) |
V426I |
probably damaging |
Het |
| Pramel22 |
A |
T |
4: 143,380,675 (GRCm39) |
Y449* |
probably null |
Het |
| Prl6a1 |
T |
G |
13: 27,498,221 (GRCm39) |
|
probably null |
Het |
| Prss23 |
A |
T |
7: 89,159,038 (GRCm39) |
W344R |
probably damaging |
Het |
| Ptar1 |
T |
A |
19: 23,697,680 (GRCm39) |
D397E |
probably benign |
Het |
| Qrsl1 |
G |
A |
10: 43,752,513 (GRCm39) |
R437C |
probably damaging |
Het |
| Rab6a |
G |
T |
7: 100,257,404 (GRCm39) |
|
probably benign |
Het |
| Samd14 |
C |
A |
11: 94,912,239 (GRCm39) |
S205R |
probably benign |
Het |
| Sel1l3 |
T |
C |
5: 53,343,326 (GRCm39) |
Y322C |
probably damaging |
Het |
| Slc30a5 |
A |
T |
13: 100,940,480 (GRCm39) |
L669I |
probably benign |
Het |
| Ssc4d |
A |
G |
5: 135,991,887 (GRCm39) |
L419P |
probably damaging |
Het |
| Tbc1d2b |
A |
T |
9: 90,101,063 (GRCm39) |
Y642* |
probably null |
Het |
| Tbc1d2b |
A |
C |
9: 90,108,301 (GRCm39) |
F417V |
probably benign |
Het |
| Top2a |
T |
C |
11: 98,907,005 (GRCm39) |
D212G |
probably damaging |
Het |
| Trim39 |
A |
T |
17: 36,571,807 (GRCm39) |
V317E |
probably damaging |
Het |
| Uncx |
G |
A |
5: 139,530,261 (GRCm39) |
R113H |
probably damaging |
Het |
| Usp4 |
A |
G |
9: 108,256,543 (GRCm39) |
S655G |
probably benign |
Het |
| Vmn2r114 |
C |
T |
17: 23,510,000 (GRCm39) |
V827I |
probably benign |
Het |
| Vmn2r28 |
T |
A |
7: 5,491,200 (GRCm39) |
N349I |
probably benign |
Het |
| Vmn2r3 |
A |
G |
3: 64,182,770 (GRCm39) |
W310R |
possibly damaging |
Het |
| Xirp2 |
T |
C |
2: 67,340,245 (GRCm39) |
W829R |
probably damaging |
Het |
| Zfp574 |
C |
A |
7: 24,780,777 (GRCm39) |
H600N |
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 |
|
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'- GCTGGAAGCTGTGTCAGAAC -3'
(R):5'- CCTTGGTCTCTAAAGCAGCCAC -3'
Sequencing Primer
(F):5'- TGTGTCAGAACAGAAGAAAAAGATC -3'
(R):5'- TTGGTCTCTAAAGCAGCCACCTAAG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation