Incidental Mutation 'R7038:Prpf8'
| ID |
546873 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prpf8
|
| Ensembl Gene |
ENSMUSG00000020850 |
| Gene Name |
pre-mRNA processing factor 8 |
| Synonyms |
Sfprp8l, D11Bwg0410e, DBF3/PRP8, Prp8 |
| MMRRC Submission |
045138-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.960)
|
| Stock # |
R7038 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
75377642-75400275 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 75386984 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1143
(M1143K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099568
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018449]
[ENSMUST00000102510]
[ENSMUST00000131283]
|
| AlphaFold |
Q99PV0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018449
AA Change: M1143K
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000018449
Gene: ENSMUSG00000020850
AA Change: M1143K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PRO8NT
|
58 |
209 |
1.6e-84 |
PFAM |
|
low complexity region
|
369 |
388 |
N/A |
INTRINSIC |
|
Pfam:PROCN
|
393 |
801 |
3.6e-226 |
PFAM |
|
low complexity region
|
802 |
814 |
N/A |
INTRINSIC |
|
Pfam:RRM_4
|
986 |
1079 |
7.1e-49 |
PFAM |
|
Pfam:U5_2-snRNA_bdg
|
1208 |
1343 |
1.9e-73 |
PFAM |
|
Pfam:U6-snRNA_bdg
|
1442 |
1601 |
3.7e-97 |
PFAM |
|
Pfam:PRP8_domainIV
|
1760 |
1990 |
1.5e-132 |
PFAM |
|
JAB_MPN
|
2099 |
2233 |
9.02e-30 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102510
AA Change: M1143K
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000099568
Gene: ENSMUSG00000020850
AA Change: M1143K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PRO8NT
|
58 |
209 |
1.6e-90 |
PFAM |
|
low complexity region
|
369 |
388 |
N/A |
INTRINSIC |
|
Pfam:PROCN
|
395 |
801 |
2.9e-239 |
PFAM |
|
low complexity region
|
802 |
814 |
N/A |
INTRINSIC |
|
Pfam:RRM_4
|
986 |
1077 |
1.5e-51 |
PFAM |
|
Pfam:U5_2-snRNA_bdg
|
1210 |
1343 |
1.1e-77 |
PFAM |
|
Pfam:U6-snRNA_bdg
|
1442 |
1600 |
4.2e-97 |
PFAM |
|
Pfam:PRP8_domainIV
|
1760 |
1989 |
9.8e-134 |
PFAM |
|
JAB_MPN
|
2099 |
2233 |
9.02e-30 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131283
|
| SMART Domains |
Protein: ENSMUSP00000115635
Gene: ENSMUSG00000020850
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PRO8NT
|
58 |
92 |
1.9e-13 |
PFAM |
|
Pfam:PRO8NT
|
90 |
154 |
2.5e-30 |
PFAM |
|
low complexity region
|
314 |
333 |
N/A |
INTRINSIC |
|
Pfam:PROCN
|
338 |
746 |
1.7e-226 |
PFAM |
|
low complexity region
|
747 |
759 |
N/A |
INTRINSIC |
|
Pfam:RRM_4
|
931 |
1024 |
5.3e-49 |
PFAM |
|
| Meta Mutation Damage Score |
0.8256 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
99% (101/102) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is a component of both U2- and U12-dependent spliceosomes, and found to be essential for the catalytic step II in pre-mRNA splicing process. It contains several WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to yeast Prp8 protein. This gene is a candidate gene for autosomal dominant retinitis pigmentosa. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice that are either heterozygous or homozygous for a knock-in allele exhibit abnormal retinal pigment epithelium morphology and late-onset retinal degeneration. These changes are more severe in homozygous mutant mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 102 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl2 |
T |
C |
1: 156,468,979 (GRCm39) |
S748P |
possibly damaging |
Het |
| Alppl2 |
T |
C |
1: 87,016,833 (GRCm39) |
D104G |
probably damaging |
Het |
| Als2 |
C |
A |
1: 59,206,673 (GRCm39) |
W1590L |
possibly damaging |
Het |
| Aopep |
G |
T |
13: 63,338,339 (GRCm39) |
V571F |
possibly damaging |
Het |
| Aplf |
C |
T |
6: 87,630,805 (GRCm39) |
W210* |
probably null |
Het |
| Ash1l |
A |
T |
3: 88,889,978 (GRCm39) |
H619L |
probably benign |
Het |
| Baiap3 |
G |
A |
17: 25,462,814 (GRCm39) |
R1075C |
probably benign |
Het |
| Bpifb1 |
G |
T |
2: 154,044,589 (GRCm39) |
V19F |
probably damaging |
Het |
| Capn1 |
A |
T |
19: 6,064,349 (GRCm39) |
L50Q |
probably benign |
Het |
| Carmil1 |
A |
G |
13: 24,323,318 (GRCm39) |
S245P |
probably damaging |
Het |
| Cavin4 |
A |
G |
4: 48,672,479 (GRCm39) |
H308R |
probably benign |
Het |
| Cd4 |
C |
T |
6: 124,847,217 (GRCm39) |
V316M |
probably damaging |
Het |
| Cdcp1 |
T |
C |
9: 123,002,662 (GRCm39) |
Y803C |
probably damaging |
Het |
| Cep295nl |
A |
G |
11: 118,223,815 (GRCm39) |
I343T |
probably benign |
Het |
| Cgn |
T |
G |
3: 94,670,392 (GRCm39) |
T1021P |
possibly damaging |
Het |
| Cilk1 |
C |
T |
9: 78,016,484 (GRCm39) |
|
probably benign |
Het |
| Col6a5 |
A |
G |
9: 105,822,937 (GRCm39) |
V140A |
unknown |
Het |
| Cops8 |
T |
C |
1: 90,531,320 (GRCm39) |
|
probably benign |
Het |
| Crhbp |
A |
G |
13: 95,580,699 (GRCm39) |
Y54H |
probably damaging |
Het |
| Cyp2c29 |
G |
A |
19: 39,275,571 (GRCm39) |
V4I |
probably benign |
Het |
| Cyp2j6 |
T |
A |
4: 96,423,708 (GRCm39) |
Y220F |
probably benign |
Het |
| D130043K22Rik |
A |
G |
13: 25,077,391 (GRCm39) |
D1008G |
probably damaging |
Het |
| Ddx47 |
T |
A |
6: 135,000,336 (GRCm39) |
V444E |
possibly damaging |
Het |
| Dnttip2 |
T |
A |
3: 122,070,181 (GRCm39) |
C465* |
probably null |
Het |
| Dst |
C |
A |
1: 34,221,879 (GRCm39) |
S2561* |
probably null |
Het |
| Dstyk |
T |
C |
1: 132,381,847 (GRCm39) |
S534P |
probably benign |
Het |
| Eif4e |
A |
G |
3: 138,232,943 (GRCm39) |
|
probably benign |
Het |
| Eipr1 |
C |
T |
12: 28,801,817 (GRCm39) |
|
probably benign |
Het |
| Fastkd2 |
T |
A |
1: 63,771,032 (GRCm39) |
D129E |
possibly damaging |
Het |
| Fndc3b |
C |
T |
3: 27,555,618 (GRCm39) |
G312D |
probably benign |
Het |
| Gab2 |
T |
A |
7: 96,952,290 (GRCm39) |
I562N |
probably damaging |
Het |
| Gata5 |
C |
A |
2: 179,975,685 (GRCm39) |
D160Y |
possibly damaging |
Het |
| Gcn1 |
G |
A |
5: 115,749,203 (GRCm39) |
V1912I |
probably damaging |
Het |
| Gdf5 |
C |
A |
2: 155,786,655 (GRCm39) |
Q107H |
probably damaging |
Het |
| Gdpd1 |
A |
G |
11: 86,926,118 (GRCm39) |
Y276H |
probably damaging |
Het |
| Gins1 |
A |
G |
2: 150,759,791 (GRCm39) |
Y81C |
probably damaging |
Het |
| Gm28360 |
T |
C |
1: 117,781,329 (GRCm39) |
C107R |
probably damaging |
Het |
| Hadha |
T |
C |
5: 30,324,998 (GRCm39) |
|
probably null |
Het |
| Hcn4 |
A |
T |
9: 58,730,867 (GRCm39) |
I25F |
unknown |
Het |
| Hectd4 |
A |
G |
5: 121,437,660 (GRCm39) |
Y1095C |
possibly damaging |
Het |
| Hsp90b1 |
A |
T |
10: 86,531,730 (GRCm39) |
L73Q |
probably damaging |
Het |
| Hspa12a |
A |
G |
19: 58,793,132 (GRCm39) |
V351A |
probably damaging |
Het |
| Htr1b |
T |
A |
9: 81,514,296 (GRCm39) |
M104L |
probably benign |
Het |
| Igf2r |
T |
C |
17: 12,917,212 (GRCm39) |
T1563A |
probably benign |
Het |
| Kif13a |
C |
T |
13: 46,905,931 (GRCm39) |
V671M |
possibly damaging |
Het |
| Liph |
A |
T |
16: 21,795,009 (GRCm39) |
V201E |
probably damaging |
Het |
| Ltn1 |
T |
C |
16: 87,221,759 (GRCm39) |
D196G |
probably damaging |
Het |
| Med15 |
C |
T |
16: 17,470,591 (GRCm39) |
D589N |
possibly damaging |
Het |
| Mknk1 |
A |
G |
4: 115,714,307 (GRCm39) |
D26G |
probably damaging |
Het |
| Mpi |
T |
C |
9: 57,452,500 (GRCm39) |
D344G |
probably damaging |
Het |
| Mrc2 |
A |
G |
11: 105,223,062 (GRCm39) |
E435G |
possibly damaging |
Het |
| Mrps5 |
A |
G |
2: 127,442,786 (GRCm39) |
E285G |
probably damaging |
Het |
| Ms4a20 |
A |
T |
19: 11,087,675 (GRCm39) |
F85L |
probably benign |
Het |
| Muc16 |
T |
A |
9: 18,531,764 (GRCm39) |
M6197L |
probably damaging |
Het |
| Myo3b |
A |
T |
2: 69,925,552 (GRCm39) |
E34D |
probably benign |
Het |
| Nsd3 |
T |
C |
8: 26,131,279 (GRCm39) |
S215P |
probably damaging |
Het |
| Nsmce2 |
T |
A |
15: 59,368,679 (GRCm39) |
|
probably benign |
Het |
| Ntan1 |
T |
C |
16: 13,644,774 (GRCm39) |
S37P |
probably benign |
Het |
| Nup210l |
T |
A |
3: 90,067,254 (GRCm39) |
Y765N |
probably damaging |
Het |
| Or10q12 |
A |
T |
19: 13,745,715 (GRCm39) |
D3V |
probably benign |
Het |
| Or2aa1 |
T |
C |
11: 59,480,408 (GRCm39) |
Y169C |
possibly damaging |
Het |
| Or4s2b |
A |
T |
2: 88,509,085 (GRCm39) |
R288S |
probably damaging |
Het |
| Or7g30 |
A |
C |
9: 19,352,888 (GRCm39) |
L226F |
possibly damaging |
Het |
| Pald1 |
T |
C |
10: 61,175,078 (GRCm39) |
H724R |
probably benign |
Het |
| Pcdhb7 |
A |
T |
18: 37,475,257 (GRCm39) |
D131V |
possibly damaging |
Het |
| Pds5b |
G |
T |
5: 150,724,225 (GRCm39) |
R1269S |
probably benign |
Het |
| Pikfyve |
T |
C |
1: 65,273,520 (GRCm39) |
V645A |
probably damaging |
Het |
| Plag1 |
G |
T |
4: 3,904,676 (GRCm39) |
H172N |
probably damaging |
Het |
| Plch2 |
G |
C |
4: 155,074,489 (GRCm39) |
|
probably null |
Het |
| Plxnb1 |
T |
A |
9: 108,929,453 (GRCm39) |
V103E |
probably damaging |
Het |
| Ptpn18 |
T |
A |
1: 34,498,906 (GRCm39) |
M1K |
probably null |
Het |
| Rasgrf2 |
G |
A |
13: 92,130,952 (GRCm39) |
T703I |
possibly damaging |
Het |
| Rassf6 |
A |
T |
5: 90,757,584 (GRCm39) |
H125Q |
probably benign |
Het |
| Sdad1 |
A |
G |
5: 92,446,049 (GRCm39) |
|
probably null |
Het |
| Sf3a3 |
T |
A |
4: 124,622,219 (GRCm39) |
F426L |
probably benign |
Het |
| Sgsm3 |
T |
C |
15: 80,892,576 (GRCm39) |
F6L |
possibly damaging |
Het |
| Slc14a2 |
A |
T |
18: 78,202,252 (GRCm39) |
I626N |
probably damaging |
Het |
| Slc17a8 |
T |
C |
10: 89,436,083 (GRCm39) |
N165S |
probably benign |
Het |
| Slc41a1 |
C |
A |
1: 131,769,795 (GRCm39) |
A305D |
possibly damaging |
Het |
| Smyd4 |
C |
A |
11: 75,281,340 (GRCm39) |
P271Q |
probably damaging |
Het |
| Spag17 |
C |
A |
3: 99,891,925 (GRCm39) |
H260N |
probably benign |
Het |
| Spata2 |
A |
T |
2: 167,327,283 (GRCm39) |
V38E |
possibly damaging |
Het |
| Sprr2b |
CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC |
CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC |
3: 92,224,826 (GRCm39) |
|
probably benign |
Het |
| Syt14 |
T |
A |
1: 192,665,966 (GRCm39) |
|
probably benign |
Het |
| Tbx21 |
A |
G |
11: 96,990,597 (GRCm39) |
S329P |
probably damaging |
Het |
| Tex2 |
A |
T |
11: 106,402,726 (GRCm39) |
|
probably null |
Het |
| Tmem62 |
A |
G |
2: 120,824,058 (GRCm39) |
I244M |
possibly damaging |
Het |
| Tnks |
A |
T |
8: 35,318,790 (GRCm39) |
N830K |
probably damaging |
Het |
| Tox2 |
A |
G |
2: 163,156,264 (GRCm39) |
E145G |
probably damaging |
Het |
| Tpcn1 |
T |
C |
5: 120,723,342 (GRCm39) |
D7G |
probably damaging |
Het |
| Ttc28 |
T |
A |
5: 111,414,445 (GRCm39) |
M1320K |
probably benign |
Het |
| Tubgcp5 |
T |
G |
7: 55,455,114 (GRCm39) |
V270G |
probably damaging |
Het |
| Unc5a |
A |
G |
13: 55,152,297 (GRCm39) |
R62G |
probably damaging |
Het |
| Unc5d |
A |
G |
8: 29,205,749 (GRCm39) |
|
probably null |
Het |
| Utrn |
T |
C |
10: 12,558,082 (GRCm39) |
H1459R |
probably damaging |
Het |
| Vmn2r100 |
T |
A |
17: 19,725,263 (GRCm39) |
L64Q |
possibly damaging |
Het |
| Wdr55 |
T |
G |
18: 36,893,473 (GRCm39) |
L45R |
probably damaging |
Het |
| Zfp292 |
A |
G |
4: 34,816,357 (GRCm39) |
Y306H |
probably damaging |
Het |
| Zfp398 |
G |
T |
6: 47,843,243 (GRCm39) |
D300Y |
probably damaging |
Het |
| Zfp407 |
A |
G |
18: 84,579,982 (GRCm39) |
V377A |
probably damaging |
Het |
| Zfp457 |
G |
A |
13: 67,441,997 (GRCm39) |
H97Y |
probably benign |
Het |
| Zfp467 |
T |
C |
6: 48,415,072 (GRCm39) |
T527A |
probably damaging |
Het |
|
| Other mutations in Prpf8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01375:Prpf8
|
APN |
11 |
75,385,121 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01376:Prpf8
|
APN |
11 |
75,385,121 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01393:Prpf8
|
APN |
11 |
75,385,121 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01395:Prpf8
|
APN |
11 |
75,385,121 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01554:Prpf8
|
APN |
11 |
75,386,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01560:Prpf8
|
APN |
11 |
75,381,232 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL01886:Prpf8
|
APN |
11 |
75,386,570 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL01946:Prpf8
|
APN |
11 |
75,390,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02022:Prpf8
|
APN |
11 |
75,392,660 (GRCm39) |
nonsense |
probably null |
|
|
IGL02077:Prpf8
|
APN |
11 |
75,386,635 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02141:Prpf8
|
APN |
11 |
75,381,498 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02455:Prpf8
|
APN |
11 |
75,400,084 (GRCm39) |
missense |
probably benign |
0.32 |
|
cutter
|
UTSW |
11 |
75,386,252 (GRCm39) |
splice site |
probably null |
|
|
BB009:Prpf8
|
UTSW |
11 |
75,383,423 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
BB019:Prpf8
|
UTSW |
11 |
75,383,423 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
PIT4514001:Prpf8
|
UTSW |
11 |
75,387,181 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0254:Prpf8
|
UTSW |
11 |
75,397,188 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0270:Prpf8
|
UTSW |
11 |
75,396,075 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0504:Prpf8
|
UTSW |
11 |
75,392,768 (GRCm39) |
splice site |
probably benign |
|
|
R0573:Prpf8
|
UTSW |
11 |
75,381,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0613:Prpf8
|
UTSW |
11 |
75,394,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0893:Prpf8
|
UTSW |
11 |
75,384,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0967:Prpf8
|
UTSW |
11 |
75,385,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0975:Prpf8
|
UTSW |
11 |
75,399,500 (GRCm39) |
unclassified |
probably benign |
|
|
R1123:Prpf8
|
UTSW |
11 |
75,386,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1183:Prpf8
|
UTSW |
11 |
75,381,156 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1857:Prpf8
|
UTSW |
11 |
75,386,249 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1901:Prpf8
|
UTSW |
11 |
75,395,570 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1950:Prpf8
|
UTSW |
11 |
75,387,337 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R2116:Prpf8
|
UTSW |
11 |
75,378,547 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R2147:Prpf8
|
UTSW |
11 |
75,381,357 (GRCm39) |
missense |
probably benign |
|
|
R2185:Prpf8
|
UTSW |
11 |
75,377,939 (GRCm39) |
nonsense |
probably null |
|
|
R2271:Prpf8
|
UTSW |
11 |
75,386,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2272:Prpf8
|
UTSW |
11 |
75,386,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2898:Prpf8
|
UTSW |
11 |
75,386,860 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3744:Prpf8
|
UTSW |
11 |
75,397,547 (GRCm39) |
splice site |
probably null |
|
|
R3893:Prpf8
|
UTSW |
11 |
75,391,083 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4400:Prpf8
|
UTSW |
11 |
75,381,528 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4510:Prpf8
|
UTSW |
11 |
75,382,652 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4511:Prpf8
|
UTSW |
11 |
75,382,652 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4784:Prpf8
|
UTSW |
11 |
75,383,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5089:Prpf8
|
UTSW |
11 |
75,400,054 (GRCm39) |
splice site |
probably null |
|
|
R5186:Prpf8
|
UTSW |
11 |
75,380,609 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5215:Prpf8
|
UTSW |
11 |
75,391,030 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5288:Prpf8
|
UTSW |
11 |
75,386,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5362:Prpf8
|
UTSW |
11 |
75,397,236 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5384:Prpf8
|
UTSW |
11 |
75,386,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5386:Prpf8
|
UTSW |
11 |
75,386,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5423:Prpf8
|
UTSW |
11 |
75,399,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5472:Prpf8
|
UTSW |
11 |
75,394,469 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5539:Prpf8
|
UTSW |
11 |
75,394,464 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5620:Prpf8
|
UTSW |
11 |
75,395,927 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5669:Prpf8
|
UTSW |
11 |
75,395,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5887:Prpf8
|
UTSW |
11 |
75,391,734 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5948:Prpf8
|
UTSW |
11 |
75,400,015 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6073:Prpf8
|
UTSW |
11 |
75,384,848 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6250:Prpf8
|
UTSW |
11 |
75,384,334 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6358:Prpf8
|
UTSW |
11 |
75,382,321 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6629:Prpf8
|
UTSW |
11 |
75,386,252 (GRCm39) |
splice site |
probably null |
|
|
R6804:Prpf8
|
UTSW |
11 |
75,390,635 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6922:Prpf8
|
UTSW |
11 |
75,381,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7035:Prpf8
|
UTSW |
11 |
75,395,654 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7089:Prpf8
|
UTSW |
11 |
75,399,374 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7101:Prpf8
|
UTSW |
11 |
75,381,226 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7114:Prpf8
|
UTSW |
11 |
75,394,181 (GRCm39) |
nonsense |
probably null |
|
|
R7182:Prpf8
|
UTSW |
11 |
75,381,553 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7290:Prpf8
|
UTSW |
11 |
75,384,783 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7323:Prpf8
|
UTSW |
11 |
75,382,610 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7485:Prpf8
|
UTSW |
11 |
75,399,738 (GRCm39) |
nonsense |
probably null |
|
|
R7522:Prpf8
|
UTSW |
11 |
75,400,102 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7546:Prpf8
|
UTSW |
11 |
75,399,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7596:Prpf8
|
UTSW |
11 |
75,382,330 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7699:Prpf8
|
UTSW |
11 |
75,391,022 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7731:Prpf8
|
UTSW |
11 |
75,399,732 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7821:Prpf8
|
UTSW |
11 |
75,385,300 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7932:Prpf8
|
UTSW |
11 |
75,383,423 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8039:Prpf8
|
UTSW |
11 |
75,393,368 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8067:Prpf8
|
UTSW |
11 |
75,390,976 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8316:Prpf8
|
UTSW |
11 |
75,390,641 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8560:Prpf8
|
UTSW |
11 |
75,382,600 (GRCm39) |
nonsense |
probably null |
|
|
R8823:Prpf8
|
UTSW |
11 |
75,384,282 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8977:Prpf8
|
UTSW |
11 |
75,386,870 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9116:Prpf8
|
UTSW |
11 |
75,380,589 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9166:Prpf8
|
UTSW |
11 |
75,387,340 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9360:Prpf8
|
UTSW |
11 |
75,381,156 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9453:Prpf8
|
UTSW |
11 |
75,397,212 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9518:Prpf8
|
UTSW |
11 |
75,394,486 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9532:Prpf8
|
UTSW |
11 |
75,385,608 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9626:Prpf8
|
UTSW |
11 |
75,385,681 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9760:Prpf8
|
UTSW |
11 |
75,394,257 (GRCm39) |
missense |
probably benign |
0.20 |
|
X0028:Prpf8
|
UTSW |
11 |
75,397,590 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Prpf8
|
UTSW |
11 |
75,394,160 (GRCm39) |
missense |
probably benign |
0.35 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTAGAGTTAGTTCTCAAAGGGTCC -3'
(R):5'- TGATGTCCCAGAACACTGCC -3'
Sequencing Primer
(F):5'- CTCAAAGGGTCCTAGTATATTTGGAG -3'
(R):5'- TATCCAGAGAACACAGAGGCACTTC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation