Incidental Mutation 'R8039:Prpf8'
ID |
618429 |
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 |
067476-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.958)
|
Stock # |
R8039 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
75377642-75400275 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 75393368 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 1664
(I1664N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000018449
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018449]
[ENSMUST00000102510]
|
AlphaFold |
Q99PV0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000018449
AA Change: I1664N
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000018449 Gene: ENSMUSG00000020850 AA Change: I1664N
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 |
possibly damaging
Transcript: ENSMUST00000102510
AA Change: I1664N
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000099568 Gene: ENSMUSG00000020850 AA Change: I1664N
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
Validation Efficiency |
|
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: 86 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
T |
C |
17: 24,547,699 (GRCm39) |
H225R |
probably damaging |
Het |
Adgrb2 |
T |
A |
4: 129,916,061 (GRCm39) |
L1451Q |
probably damaging |
Het |
Afdn |
T |
C |
17: 14,119,403 (GRCm39) |
L1713P |
probably damaging |
Het |
Agr2 |
A |
T |
12: 36,045,558 (GRCm39) |
I15F |
probably benign |
Het |
Agrn |
T |
C |
4: 156,253,468 (GRCm39) |
T1808A |
probably benign |
Het |
Akap6 |
A |
G |
12: 53,188,459 (GRCm39) |
I1958V |
probably benign |
Het |
Ankrd60 |
C |
A |
2: 173,414,284 (GRCm39) |
|
probably null |
Het |
Anpep |
A |
G |
7: 79,489,148 (GRCm39) |
|
probably null |
Het |
Apoa4 |
A |
T |
9: 46,153,591 (GRCm39) |
D64V |
possibly damaging |
Het |
Arhgef26 |
C |
A |
3: 62,247,351 (GRCm39) |
T145N |
probably benign |
Het |
Art1 |
A |
T |
7: 101,756,052 (GRCm39) |
Q81L |
probably benign |
Het |
Astl |
A |
T |
2: 127,185,903 (GRCm39) |
S71C |
probably damaging |
Het |
Atp2a1 |
A |
G |
7: 126,047,977 (GRCm39) |
I611T |
probably damaging |
Het |
Bltp1 |
T |
A |
3: 36,997,363 (GRCm39) |
V1140E |
probably benign |
Het |
Cacna2d2 |
T |
A |
9: 107,404,632 (GRCm39) |
V1139D |
possibly damaging |
Het |
Castor1 |
G |
T |
11: 4,171,639 (GRCm39) |
A288S |
probably damaging |
Het |
Chst10 |
T |
A |
1: 38,905,112 (GRCm39) |
K198* |
probably null |
Het |
Ckmt2 |
G |
A |
13: 92,011,431 (GRCm39) |
H60Y |
possibly damaging |
Het |
Coq7 |
G |
C |
7: 118,132,469 (GRCm39) |
S2R |
possibly damaging |
Het |
Cspp1 |
T |
A |
1: 10,183,238 (GRCm39) |
D814E |
probably benign |
Het |
Cyp2c54 |
CCTCTTTCATAGCTCT |
CCTCT |
19: 40,062,176 (GRCm39) |
|
probably null |
Het |
Daam2 |
C |
A |
17: 49,771,566 (GRCm39) |
G860V |
probably damaging |
Het |
Ecm2 |
A |
T |
13: 49,668,326 (GRCm39) |
I10F |
probably benign |
Het |
Epb41l1 |
A |
T |
2: 156,348,332 (GRCm39) |
D312V |
probably damaging |
Het |
Epsti1 |
G |
A |
14: 78,168,741 (GRCm39) |
R126H |
probably damaging |
Het |
Erc1 |
A |
T |
6: 119,750,626 (GRCm39) |
Y367* |
probably null |
Het |
Erh |
T |
A |
12: 80,684,352 (GRCm39) |
R42W |
probably damaging |
Het |
Fam124a |
C |
T |
14: 62,843,325 (GRCm39) |
Q278* |
probably null |
Het |
Fbxo3 |
T |
A |
2: 103,885,286 (GRCm39) |
L385Q |
probably damaging |
Het |
Fbxo31 |
T |
A |
8: 122,285,794 (GRCm39) |
T219S |
probably damaging |
Het |
Fstl5 |
T |
G |
3: 76,555,725 (GRCm39) |
V534G |
possibly damaging |
Het |
Gbp2b |
A |
T |
3: 142,323,925 (GRCm39) |
I577F |
probably benign |
Het |
Gbp8 |
A |
T |
5: 105,198,783 (GRCm39) |
L44* |
probably null |
Het |
Gck |
C |
T |
11: 5,860,301 (GRCm39) |
A114T |
probably benign |
Het |
Gtf2i |
A |
G |
5: 134,284,688 (GRCm39) |
V537A |
possibly damaging |
Het |
Iqcm |
C |
A |
8: 76,489,733 (GRCm39) |
H400Q |
probably damaging |
Het |
Iqcn |
T |
C |
8: 71,163,555 (GRCm39) |
V916A |
probably benign |
Het |
Itpr1 |
T |
C |
6: 108,363,589 (GRCm39) |
L737P |
probably damaging |
Het |
Jakmip1 |
A |
G |
5: 37,258,116 (GRCm39) |
E254G |
probably damaging |
Het |
Kif15 |
A |
T |
9: 122,836,490 (GRCm39) |
R1095W |
possibly damaging |
Het |
Klhdc8a |
G |
A |
1: 132,230,846 (GRCm39) |
R237Q |
probably benign |
Het |
Klhl38 |
T |
C |
15: 58,186,258 (GRCm39) |
E157G |
probably benign |
Het |
Klrk1 |
T |
A |
6: 129,589,786 (GRCm39) |
N221I |
probably benign |
Het |
Lhx8 |
A |
T |
3: 154,012,576 (GRCm39) |
H345Q |
probably damaging |
Het |
Lims1 |
T |
A |
10: 58,245,494 (GRCm39) |
N174K |
probably benign |
Het |
Madd |
T |
A |
2: 90,997,406 (GRCm39) |
Q754L |
probably benign |
Het |
Mau2 |
T |
C |
8: 70,472,440 (GRCm39) |
D581G |
probably damaging |
Het |
Miga1 |
A |
T |
3: 151,982,393 (GRCm39) |
I561N |
probably benign |
Het |
Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
Mob3c |
T |
C |
4: 115,688,884 (GRCm39) |
V139A |
probably benign |
Het |
Nadk |
G |
T |
4: 155,661,524 (GRCm39) |
D17Y |
probably benign |
Het |
Nalf1 |
T |
C |
8: 9,257,892 (GRCm39) |
T419A |
probably benign |
Het |
Ncapd2 |
C |
T |
6: 125,157,989 (GRCm39) |
V380I |
probably damaging |
Het |
Nes |
G |
A |
3: 87,884,315 (GRCm39) |
R858K |
probably benign |
Het |
Nphp3 |
T |
C |
9: 103,909,162 (GRCm39) |
S791P |
probably benign |
Het |
Nup210 |
T |
C |
6: 91,047,215 (GRCm39) |
T496A |
probably benign |
Het |
Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
Or4c100 |
C |
T |
2: 88,356,215 (GRCm39) |
T96I |
probably benign |
Het |
Or6y1 |
T |
A |
1: 174,277,162 (GRCm39) |
S324R |
unknown |
Het |
Or8b50 |
T |
A |
9: 38,518,685 (GRCm39) |
M308K |
probably benign |
Het |
Ovgp1 |
T |
A |
3: 105,883,339 (GRCm39) |
S105T |
probably benign |
Het |
Pbld2 |
T |
A |
10: 62,883,771 (GRCm39) |
C79S |
probably damaging |
Het |
Pik3cd |
T |
A |
4: 149,744,323 (GRCm39) |
M143L |
possibly damaging |
Het |
Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
Poln |
A |
G |
5: 34,280,016 (GRCm39) |
V282A |
probably benign |
Het |
Ppp1r11 |
T |
C |
17: 37,262,338 (GRCm39) |
T21A |
probably damaging |
Het |
Prr29 |
C |
T |
11: 106,267,738 (GRCm39) |
A161V |
probably benign |
Het |
Rasa3 |
T |
C |
8: 13,638,931 (GRCm39) |
D292G |
probably damaging |
Het |
Rnf25 |
T |
C |
1: 74,633,123 (GRCm39) |
T411A |
probably damaging |
Het |
Rraga |
C |
T |
4: 86,494,217 (GRCm39) |
T21I |
probably damaging |
Het |
Setdb2 |
T |
A |
14: 59,639,824 (GRCm39) |
Y673F |
probably damaging |
Het |
Sf3a1 |
C |
T |
11: 4,117,787 (GRCm39) |
T183I |
probably damaging |
Het |
Shank3 |
A |
T |
15: 89,389,642 (GRCm39) |
H413L |
probably damaging |
Het |
Slc30a5 |
A |
G |
13: 100,950,189 (GRCm39) |
|
probably null |
Het |
Slc6a18 |
T |
C |
13: 73,813,745 (GRCm39) |
S523G |
probably benign |
Het |
Spaca1 |
C |
T |
4: 34,044,207 (GRCm39) |
V96I |
probably damaging |
Het |
Sycp2 |
C |
T |
2: 178,016,378 (GRCm39) |
A695T |
probably benign |
Het |
Tnrc18 |
C |
A |
5: 142,717,807 (GRCm39) |
G2216C |
unknown |
Het |
Trak2 |
T |
C |
1: 58,985,447 (GRCm39) |
N17S |
probably benign |
Het |
Ttn |
T |
A |
2: 76,708,776 (GRCm39) |
N8792I |
unknown |
Het |
Ttyh1 |
T |
C |
7: 4,125,540 (GRCm39) |
V64A |
probably benign |
Het |
Usb1 |
T |
A |
8: 96,060,041 (GRCm39) |
S50R |
probably damaging |
Het |
Ush2a |
T |
A |
1: 188,689,570 (GRCm39) |
I5044N |
probably damaging |
Het |
Vmn1r84 |
A |
T |
7: 12,095,935 (GRCm39) |
F253I |
possibly damaging |
Het |
Vmn2r99 |
T |
C |
17: 19,600,302 (GRCm39) |
I442T |
probably benign |
Het |
Vsig1 |
C |
T |
X: 139,833,875 (GRCm39) |
H232Y |
probably benign |
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 |
R7038:Prpf8
|
UTSW |
11 |
75,386,984 (GRCm39) |
missense |
probably benign |
0.02 |
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 |
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'- AGACCTGCTCATTTCCTGGG -3'
(R):5'- GGAAAACCCATGCTTCTGAGC -3'
Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- GAGCCCTCACTCACCTGTGTAG -3'
|
Posted On |
2020-01-23 |