Incidental Mutation 'R3034:Pmfbp1'
ID |
264785 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pmfbp1
|
Ensembl Gene |
ENSMUSG00000031727 |
Gene Name |
polyamine modulated factor 1 binding protein 1 |
Synonyms |
1700016D22Rik, F77 |
MMRRC Submission |
040550-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.108)
|
Stock # |
R3034 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
110220659-110269272 bp(+) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
A to T
at 110247553 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034162
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034162]
[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 |
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 |
0.9485 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
Validation Efficiency |
100% (44/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alox12e |
T |
C |
11: 70,207,079 (GRCm39) |
I576V |
probably benign |
Het |
Apol7a |
T |
G |
15: 77,273,923 (GRCm39) |
I180L |
probably benign |
Het |
Aptx |
T |
C |
4: 40,694,994 (GRCm39) |
N114S |
probably benign |
Het |
Bltp3a |
T |
A |
17: 28,113,720 (GRCm39) |
D1297E |
probably damaging |
Het |
Cd40 |
T |
A |
2: 164,904,235 (GRCm39) |
S65R |
probably benign |
Het |
Cdh23 |
C |
T |
10: 60,244,789 (GRCm39) |
|
probably benign |
Het |
Coro7 |
G |
A |
16: 4,450,155 (GRCm39) |
R565W |
probably damaging |
Het |
Cpt1a |
C |
T |
19: 3,428,390 (GRCm39) |
T588M |
probably damaging |
Het |
Defb23 |
A |
G |
2: 152,301,189 (GRCm39) |
S128P |
possibly damaging |
Het |
Dgki |
G |
A |
6: 37,064,605 (GRCm39) |
H250Y |
probably damaging |
Het |
Fgr |
T |
C |
4: 132,725,807 (GRCm39) |
|
probably null |
Het |
Fkbp15 |
T |
C |
4: 62,225,129 (GRCm39) |
|
probably null |
Het |
Gpr137c |
C |
T |
14: 45,457,733 (GRCm39) |
S95L |
probably damaging |
Het |
Kirrel1 |
T |
C |
3: 86,990,746 (GRCm39) |
D692G |
possibly damaging |
Het |
Krt1 |
C |
A |
15: 101,759,068 (GRCm39) |
R32L |
unknown |
Het |
Lama2 |
C |
T |
10: 26,877,231 (GRCm39) |
E2652K |
probably benign |
Het |
Mbl1 |
C |
A |
14: 40,880,790 (GRCm39) |
S226Y |
probably damaging |
Het |
Mrps28 |
T |
A |
3: 8,988,675 (GRCm39) |
D61V |
probably benign |
Het |
Mthfd1 |
A |
G |
12: 76,336,244 (GRCm39) |
K299E |
probably benign |
Het |
Myo1b |
A |
G |
1: 51,812,406 (GRCm39) |
Y738H |
possibly damaging |
Het |
Myo5c |
A |
G |
9: 75,193,859 (GRCm39) |
T1205A |
probably benign |
Het |
Nfatc2 |
C |
T |
2: 168,376,940 (GRCm39) |
G317S |
probably damaging |
Het |
Nln |
C |
T |
13: 104,173,947 (GRCm39) |
V525I |
possibly damaging |
Het |
Nrap |
T |
C |
19: 56,352,437 (GRCm39) |
E549G |
probably damaging |
Het |
Nwd2 |
T |
A |
5: 63,957,446 (GRCm39) |
Y259N |
probably damaging |
Het |
Oas3 |
T |
C |
5: 120,909,121 (GRCm39) |
D275G |
probably damaging |
Het |
Or14a256 |
A |
T |
7: 86,264,970 (GRCm39) |
D294E |
possibly damaging |
Het |
Ovch2 |
A |
G |
7: 107,384,699 (GRCm39) |
S473P |
probably damaging |
Het |
Pde8b |
T |
A |
13: 95,359,275 (GRCm39) |
Y16F |
probably damaging |
Het |
Pmvk |
T |
C |
3: 89,375,824 (GRCm39) |
V74A |
probably damaging |
Het |
Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
Rbm26 |
T |
A |
14: 105,390,881 (GRCm39) |
T202S |
unknown |
Het |
Rheb |
C |
T |
5: 25,008,721 (GRCm39) |
E166K |
probably damaging |
Het |
Rnf5 |
A |
G |
17: 34,822,332 (GRCm39) |
V39A |
possibly damaging |
Het |
Scn7a |
T |
C |
2: 66,513,152 (GRCm39) |
Y1168C |
probably damaging |
Het |
Tas2r114 |
A |
G |
6: 131,666,611 (GRCm39) |
I139T |
probably benign |
Het |
Tma7 |
T |
C |
9: 108,911,274 (GRCm39) |
|
probably benign |
Het |
Tmem181a |
T |
A |
17: 6,330,901 (GRCm39) |
S13T |
possibly damaging |
Het |
Tmem62 |
C |
T |
2: 120,809,605 (GRCm39) |
|
probably benign |
Het |
Trim71 |
T |
C |
9: 114,341,912 (GRCm39) |
D790G |
probably damaging |
Het |
Trp53tg5 |
T |
C |
2: 164,313,219 (GRCm39) |
K152R |
probably benign |
Het |
Zdbf2 |
C |
A |
1: 63,343,364 (GRCm39) |
A581E |
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 |
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 |
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'- AGACATCCAGAAAGGCTCCA -3'
(R):5'- GAGAAACCCAGAAGCAGTCAAT -3'
Sequencing Primer
(F):5'- AAACCGCTCTGTGTGACTTAGAC -3'
(R):5'- GCAGTCAATCCCCTCAGTCTAATC -3'
|
Posted On |
2015-02-05 |