Incidental Mutation 'R6833:Pmfbp1'
| ID |
534442 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pmfbp1
|
| Ensembl Gene |
ENSMUSG00000031727 |
| Gene Name |
polyamine modulated factor 1 binding protein 1 |
| Synonyms |
1700016D22Rik, F77 |
| MMRRC Submission |
044942-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R6833 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
110220659-110269272 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 110265307 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 |
|
| Meta Mutation Damage Score |
0.9498 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
96% (54/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
T |
A |
1: 11,658,733 (GRCm39) |
W215R |
probably damaging |
Het |
| Aco1 |
A |
G |
4: 40,164,747 (GRCm39) |
K79R |
probably benign |
Het |
| Adam28 |
C |
T |
14: 68,855,576 (GRCm39) |
A630T |
probably benign |
Het |
| Alpk2 |
T |
C |
18: 65,439,480 (GRCm39) |
K1105E |
probably benign |
Het |
| Angptl1 |
A |
T |
1: 156,672,263 (GRCm39) |
I30L |
probably benign |
Het |
| Astn1 |
A |
T |
1: 158,491,692 (GRCm39) |
Q47L |
probably benign |
Het |
| Atf6b |
T |
C |
17: 34,868,131 (GRCm39) |
S135P |
probably damaging |
Het |
| Ccdc122 |
G |
T |
14: 77,326,371 (GRCm39) |
|
probably benign |
Het |
| Cers3 |
T |
C |
7: 66,429,419 (GRCm39) |
|
probably null |
Het |
| Dcaf10 |
T |
C |
4: 45,373,043 (GRCm39) |
C95R |
probably damaging |
Het |
| Dcxr |
A |
G |
11: 120,616,917 (GRCm39) |
Y149H |
probably damaging |
Het |
| Dmxl1 |
A |
T |
18: 50,088,890 (GRCm39) |
I2790F |
probably damaging |
Het |
| Dnhd1 |
T |
A |
7: 105,352,580 (GRCm39) |
C2578S |
probably benign |
Het |
| Dnttip2 |
T |
C |
3: 122,070,452 (GRCm39) |
S556P |
probably damaging |
Het |
| Efr3a |
T |
G |
15: 65,714,535 (GRCm39) |
V301G |
probably damaging |
Het |
| Eml5 |
A |
T |
12: 98,853,283 (GRCm39) |
H105Q |
probably damaging |
Het |
| Enpp3 |
T |
A |
10: 24,685,768 (GRCm39) |
H44L |
probably damaging |
Het |
| Fam120a |
A |
G |
13: 49,087,517 (GRCm39) |
V281A |
probably damaging |
Het |
| Fat3 |
C |
T |
9: 15,826,357 (GRCm39) |
E4532K |
possibly damaging |
Het |
| Ferd3l |
G |
A |
12: 33,978,537 (GRCm39) |
V17I |
probably damaging |
Het |
| Glb1l |
A |
G |
1: 75,178,397 (GRCm39) |
V347A |
possibly damaging |
Het |
| Gm4846 |
A |
T |
1: 166,322,147 (GRCm39) |
I140N |
possibly damaging |
Het |
| Gm9195 |
T |
C |
14: 72,671,856 (GRCm39) |
T2586A |
possibly damaging |
Het |
| Hsd17b8 |
T |
C |
17: 34,246,191 (GRCm39) |
S161G |
probably damaging |
Het |
| Hsp90ab1 |
T |
C |
17: 45,881,393 (GRCm39) |
I250V |
probably benign |
Het |
| Il11ra1 |
A |
G |
4: 41,765,454 (GRCm39) |
H183R |
probably benign |
Het |
| Lama3 |
G |
A |
18: 12,624,605 (GRCm39) |
C1450Y |
probably damaging |
Het |
| Lgals7 |
G |
A |
7: 28,565,087 (GRCm39) |
R75Q |
probably damaging |
Het |
| Lpcat3 |
A |
G |
6: 124,676,974 (GRCm39) |
Y124C |
probably damaging |
Het |
| Lrrc8a |
T |
A |
2: 30,145,659 (GRCm39) |
S158T |
possibly damaging |
Het |
| Mcm3 |
A |
T |
1: 20,880,320 (GRCm39) |
M504K |
possibly damaging |
Het |
| Mro |
G |
T |
18: 73,997,003 (GRCm39) |
|
probably benign |
Het |
| Mybpc3 |
A |
G |
2: 90,955,773 (GRCm39) |
|
probably null |
Het |
| Myh14 |
T |
A |
7: 44,273,803 (GRCm39) |
K1356* |
probably null |
Het |
| Myo5b |
A |
C |
18: 74,903,396 (GRCm39) |
Q1804P |
probably benign |
Het |
| Nol10 |
A |
G |
12: 17,402,728 (GRCm39) |
I67V |
probably benign |
Het |
| Pam |
T |
A |
1: 97,765,717 (GRCm39) |
I771F |
probably damaging |
Het |
| Pcdhgb8 |
G |
T |
18: 37,895,142 (GRCm39) |
A71S |
probably benign |
Het |
| Poc1b |
C |
T |
10: 99,028,666 (GRCm39) |
A336V |
probably benign |
Het |
| Poglut3 |
A |
G |
9: 53,303,308 (GRCm39) |
I67V |
possibly damaging |
Het |
| Prap1 |
C |
A |
7: 139,674,995 (GRCm39) |
A20E |
possibly damaging |
Het |
| Prox1 |
G |
A |
1: 189,892,975 (GRCm39) |
A490V |
probably damaging |
Het |
| Prss39 |
G |
T |
1: 34,537,697 (GRCm39) |
V54F |
possibly damaging |
Het |
| Sema3b |
T |
A |
9: 107,480,515 (GRCm39) |
E144V |
probably benign |
Het |
| Sft2d1 |
C |
T |
17: 8,537,707 (GRCm39) |
T32I |
possibly damaging |
Het |
| Smpd2 |
C |
T |
10: 41,364,442 (GRCm39) |
A160T |
probably damaging |
Het |
| Stard9 |
G |
T |
2: 120,531,740 (GRCm39) |
V2666F |
probably damaging |
Het |
| Syt7 |
T |
A |
19: 10,421,508 (GRCm39) |
M400K |
probably damaging |
Het |
| Thoc5 |
T |
C |
11: 4,869,804 (GRCm39) |
L402P |
probably damaging |
Het |
| Tinf2 |
A |
T |
14: 55,919,037 (GRCm39) |
M1K |
probably null |
Het |
| Ttc21a |
A |
G |
9: 119,771,701 (GRCm39) |
I167V |
probably benign |
Het |
| Vldlr |
T |
C |
19: 27,217,974 (GRCm39) |
L474P |
probably damaging |
Het |
| Xirp2 |
T |
C |
2: 67,340,294 (GRCm39) |
V845A |
probably benign |
Het |
| Zdhhc7 |
A |
T |
8: 120,811,663 (GRCm39) |
M180K |
probably damaging |
Het |
| Zfp735 |
G |
A |
11: 73,601,434 (GRCm39) |
G126D |
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 |
|
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 |
|
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'- TGTGACTGACAAGGCTCTCC -3'
(R):5'- AGGTCCCTTGTCAGTATAGTCAAG -3'
Sequencing Primer
(F):5'- GACTGACAAGGCTCTCCCTCTAG -3'
(R):5'- CAAGTGACATGTTAGTGTTGCAAAG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation