Incidental Mutation 'R0022:Pmfbp1'
ID |
64797 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pmfbp1
|
Ensembl Gene |
ENSMUSG00000031727 |
Gene Name |
polyamine modulated factor 1 binding protein 1 |
Synonyms |
1700016D22Rik, F77 |
MMRRC Submission |
038317-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.108)
|
Stock # |
R0022 (G1)
|
Quality Score |
204 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
110220659-110269272 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 110252039 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 395
(R395W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034162
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034162]
|
AlphaFold |
Q9WVQ0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034162
AA Change: R395W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000034162 Gene: ENSMUSG00000031727 AA Change: R395W
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 |
0.2021 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 93.8%
|
Validation Efficiency |
100% (68/68) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agl |
A |
T |
3: 116,587,485 (GRCm39) |
|
probably null |
Het |
Arhgap29 |
G |
A |
3: 121,782,586 (GRCm39) |
V91I |
possibly damaging |
Het |
Aste1 |
T |
A |
9: 105,273,823 (GRCm39) |
L21* |
probably null |
Het |
Bpifb5 |
A |
T |
2: 154,072,268 (GRCm39) |
D325V |
probably damaging |
Het |
Btbd10 |
G |
A |
7: 112,924,988 (GRCm39) |
Q287* |
probably null |
Het |
Cdc20 |
T |
A |
4: 118,292,686 (GRCm39) |
H354L |
probably damaging |
Het |
Cdhr3 |
G |
A |
12: 33,132,263 (GRCm39) |
T120I |
probably damaging |
Het |
Col5a2 |
G |
A |
1: 45,422,843 (GRCm39) |
R1125* |
probably null |
Het |
Col9a3 |
A |
G |
2: 180,261,549 (GRCm39) |
D613G |
probably damaging |
Het |
Coro7 |
C |
T |
16: 4,451,168 (GRCm39) |
R507H |
probably benign |
Het |
Cracdl |
C |
T |
1: 37,667,326 (GRCm39) |
R240Q |
probably damaging |
Het |
Crebbp |
A |
T |
16: 3,903,092 (GRCm39) |
V2049E |
probably damaging |
Het |
Cryga |
T |
C |
1: 65,142,382 (GRCm39) |
I4V |
probably damaging |
Het |
D930020B18Rik |
A |
G |
10: 121,507,675 (GRCm39) |
T138A |
probably damaging |
Het |
Dclre1b |
G |
T |
3: 103,710,464 (GRCm39) |
H482Q |
probably benign |
Het |
Dpy19l2 |
A |
G |
9: 24,607,420 (GRCm39) |
S14P |
probably benign |
Het |
Elavl3 |
C |
A |
9: 21,948,167 (GRCm39) |
|
probably benign |
Het |
Ephb6 |
T |
C |
6: 41,591,503 (GRCm39) |
V220A |
probably damaging |
Het |
Exoc7 |
A |
T |
11: 116,188,408 (GRCm39) |
I297N |
possibly damaging |
Het |
Gdpd4 |
A |
T |
7: 97,632,082 (GRCm39) |
N332Y |
probably damaging |
Het |
Ggct |
C |
A |
6: 54,962,887 (GRCm39) |
E175* |
probably null |
Het |
Gm5316 |
T |
C |
6: 122,877,354 (GRCm39) |
|
noncoding transcript |
Het |
Hoxa7 |
T |
C |
6: 52,194,363 (GRCm39) |
N8S |
probably damaging |
Het |
Ifi208 |
A |
G |
1: 173,510,612 (GRCm39) |
T256A |
possibly damaging |
Het |
Il12rb2 |
A |
G |
6: 67,275,903 (GRCm39) |
F630S |
probably damaging |
Het |
Kit |
A |
G |
5: 75,783,657 (GRCm39) |
N378S |
probably benign |
Het |
Lmntd1 |
T |
A |
6: 145,375,716 (GRCm39) |
Y74F |
probably benign |
Het |
Lrp1b |
A |
T |
2: 40,888,050 (GRCm39) |
|
probably benign |
Het |
Ltbp1 |
T |
A |
17: 75,671,355 (GRCm39) |
V1194D |
probably damaging |
Het |
Mc5r |
T |
G |
18: 68,471,853 (GRCm39) |
S71A |
probably benign |
Het |
Mcm7 |
T |
C |
5: 138,162,981 (GRCm39) |
*390W |
probably null |
Het |
Myo18a |
T |
C |
11: 77,734,059 (GRCm39) |
|
probably null |
Het |
Naa25 |
C |
A |
5: 121,556,039 (GRCm39) |
L276M |
probably damaging |
Het |
Nlrp1a |
T |
G |
11: 71,014,207 (GRCm39) |
T348P |
probably damaging |
Het |
Nlrp1b |
T |
G |
11: 71,052,755 (GRCm39) |
K888T |
possibly damaging |
Het |
Or4f53 |
A |
G |
2: 111,087,994 (GRCm39) |
Y178C |
probably benign |
Het |
Pabpc6 |
A |
T |
17: 9,888,145 (GRCm39) |
N135K |
probably benign |
Het |
Pdzd2 |
G |
A |
15: 12,371,691 (GRCm39) |
A2568V |
possibly damaging |
Het |
Pik3r2 |
A |
G |
8: 71,223,545 (GRCm39) |
F346S |
probably damaging |
Het |
Pkd1 |
T |
C |
17: 24,813,793 (GRCm39) |
W4086R |
probably damaging |
Het |
Plekhb2 |
G |
A |
1: 34,905,320 (GRCm39) |
|
probably benign |
Het |
Plxnb2 |
A |
G |
15: 89,047,479 (GRCm39) |
|
probably null |
Het |
Pnldc1 |
A |
G |
17: 13,109,006 (GRCm39) |
Y497H |
probably damaging |
Het |
Ppp1ca |
T |
G |
19: 4,244,580 (GRCm39) |
V213G |
possibly damaging |
Het |
Rapgef2 |
G |
A |
3: 78,995,207 (GRCm39) |
R814C |
probably damaging |
Het |
Relch |
T |
A |
1: 105,619,627 (GRCm39) |
|
probably benign |
Het |
Rnasel |
A |
T |
1: 153,636,521 (GRCm39) |
I634F |
probably damaging |
Het |
Rnf157 |
A |
T |
11: 116,240,276 (GRCm39) |
|
probably benign |
Het |
Ryr3 |
A |
G |
2: 112,471,011 (GRCm39) |
S4567P |
probably damaging |
Het |
Smcr8 |
T |
A |
11: 60,671,185 (GRCm39) |
W778R |
probably damaging |
Het |
Stat1 |
T |
A |
1: 52,179,789 (GRCm39) |
L333Q |
probably damaging |
Het |
Strc |
A |
G |
2: 121,198,874 (GRCm39) |
L1391P |
probably damaging |
Het |
Tek |
G |
A |
4: 94,725,509 (GRCm39) |
V592M |
probably damaging |
Het |
Top1 |
A |
C |
2: 160,544,719 (GRCm39) |
K278N |
possibly damaging |
Het |
Utrn |
C |
T |
10: 12,585,700 (GRCm39) |
|
probably benign |
Het |
Wdr7 |
T |
C |
18: 63,910,705 (GRCm39) |
I699T |
probably damaging |
Het |
Zfp30 |
A |
G |
7: 29,491,860 (GRCm39) |
E119G |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGAGCTGGAAGCTGTGTCAGAAC -3'
(R):5'- TCTAAAGCAGCCACCTAAGGCAGG -3'
Sequencing Primer
(F):5'- AAGAGGCTCAGAGGCCC -3'
(R):5'- CCTAAGGCAGGGGAAGCTC -3'
|
Posted On |
2013-08-06 |