Incidental Mutation 'R0270:Prpf8'
| ID |
35243 |
| 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 |
038496-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R0270 (G1)
|
| Quality Score |
198 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
75377642-75400275 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 75396075 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 1983
(L1983R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099568
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018449]
[ENSMUST00000042972]
[ENSMUST00000102510]
|
| AlphaFold |
Q99PV0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018449
AA Change: L1983R
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000018449
Gene: ENSMUSG00000020850
AA Change: L1983R
| 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: ENSMUST00000042972
|
| SMART Domains |
Protein: ENSMUSP00000037238
Gene: ENSMUSG00000038195
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
24 |
N/A |
INTRINSIC |
|
Pfam:Jnk-SapK_ap_N
|
27 |
195 |
2.1e-16 |
PFAM |
|
Pfam:RILP
|
223 |
281 |
1.1e-21 |
PFAM |
|
low complexity region
|
289 |
298 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102510
AA Change: L1983R
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099568
Gene: ENSMUSG00000020850
AA Change: L1983R
| 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 |
|
| Meta Mutation Damage Score |
0.9750 |
| Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.7%
- 10x: 96.0%
- 20x: 93.2%
|
| Validation Efficiency |
99% (113/114) |
| 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: 109 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110009E18Rik |
T |
A |
1: 120,093,906 (GRCm39) |
|
probably benign |
Het |
| Aadacl2fm3 |
T |
A |
3: 59,784,440 (GRCm39) |
N304K |
probably benign |
Het |
| Abcf3 |
T |
A |
16: 20,378,918 (GRCm39) |
|
probably null |
Het |
| Acadm |
C |
T |
3: 153,641,961 (GRCm39) |
M190I |
possibly damaging |
Het |
| Adamtsl3 |
G |
A |
7: 82,206,032 (GRCm39) |
R739Q |
probably damaging |
Het |
| Ank1 |
T |
A |
8: 23,578,941 (GRCm39) |
|
probably benign |
Het |
| Ap3b1 |
T |
A |
13: 94,540,626 (GRCm39) |
|
probably benign |
Het |
| Arhgdib |
A |
G |
6: 136,903,732 (GRCm39) |
V31A |
probably damaging |
Het |
| Arid4a |
A |
G |
12: 71,119,406 (GRCm39) |
R342G |
probably damaging |
Het |
| Asic3 |
C |
T |
5: 24,622,700 (GRCm39) |
L517F |
probably benign |
Het |
| Atxn7l1 |
C |
T |
12: 33,392,150 (GRCm39) |
P242L |
possibly damaging |
Het |
| AY761185 |
T |
A |
8: 21,434,616 (GRCm39) |
E37D |
possibly damaging |
Het |
| Babam1 |
T |
A |
8: 71,851,050 (GRCm39) |
D104E |
probably damaging |
Het |
| Batf |
A |
T |
12: 85,755,446 (GRCm39) |
T100S |
probably benign |
Het |
| Blcap |
A |
T |
2: 157,399,897 (GRCm39) |
Y59* |
probably null |
Het |
| Cacnb3 |
G |
A |
15: 98,540,440 (GRCm39) |
A350T |
probably damaging |
Het |
| Cdk15 |
T |
A |
1: 59,349,965 (GRCm39) |
V319D |
probably damaging |
Het |
| Cenpf |
T |
C |
1: 189,382,911 (GRCm39) |
H2661R |
probably benign |
Het |
| Cenpq |
T |
C |
17: 41,240,941 (GRCm39) |
E106G |
probably damaging |
Het |
| Cfap43 |
A |
G |
19: 47,785,642 (GRCm39) |
|
probably benign |
Het |
| Cfb |
G |
A |
17: 35,079,362 (GRCm39) |
S778L |
possibly damaging |
Het |
| Clec2m |
A |
T |
6: 129,302,571 (GRCm39) |
L152* |
probably null |
Het |
| Clspn |
T |
A |
4: 126,467,029 (GRCm39) |
N631K |
probably damaging |
Het |
| Cntn2 |
T |
A |
1: 132,449,462 (GRCm39) |
T660S |
probably damaging |
Het |
| Cntrob |
T |
A |
11: 69,202,167 (GRCm39) |
H475L |
possibly damaging |
Het |
| Ddx46 |
T |
C |
13: 55,821,917 (GRCm39) |
I863T |
probably benign |
Het |
| Dnah11 |
G |
A |
12: 118,004,748 (GRCm39) |
T2191I |
probably damaging |
Het |
| Dock9 |
T |
C |
14: 121,813,411 (GRCm39) |
T1703A |
probably benign |
Het |
| Fam13c |
C |
T |
10: 70,380,343 (GRCm39) |
P424S |
probably benign |
Het |
| Fan1 |
T |
C |
7: 63,998,619 (GRCm39) |
N968D |
probably benign |
Het |
| Fbxl20 |
A |
T |
11: 97,989,329 (GRCm39) |
|
probably benign |
Het |
| Fkbp1b |
A |
T |
12: 4,888,229 (GRCm39) |
|
probably benign |
Het |
| G930045G22Rik |
T |
A |
6: 50,824,039 (GRCm39) |
|
noncoding transcript |
Het |
| Gm28042 |
C |
A |
2: 119,872,073 (GRCm39) |
R1008S |
probably benign |
Het |
| Gon4l |
G |
A |
3: 88,765,707 (GRCm39) |
S376N |
probably damaging |
Het |
| Gstt3 |
C |
A |
10: 75,616,749 (GRCm39) |
R15L |
probably damaging |
Het |
| Gtdc1 |
A |
T |
2: 44,642,186 (GRCm39) |
S73T |
possibly damaging |
Het |
| Hhatl |
A |
G |
9: 121,613,786 (GRCm39) |
S419P |
probably benign |
Het |
| Hirip3 |
T |
G |
7: 126,462,363 (GRCm39) |
S46R |
probably damaging |
Het |
| Hsf2 |
A |
G |
10: 57,378,735 (GRCm39) |
T204A |
probably benign |
Het |
| Impg2 |
G |
A |
16: 56,089,378 (GRCm39) |
E1108K |
possibly damaging |
Het |
| Itgb2l |
G |
T |
16: 96,224,130 (GRCm39) |
|
probably benign |
Het |
| Itih5 |
A |
T |
2: 10,256,075 (GRCm39) |
N847I |
probably benign |
Het |
| Kif1a |
T |
C |
1: 92,982,164 (GRCm39) |
|
probably benign |
Het |
| Klhl1 |
T |
A |
14: 96,755,780 (GRCm39) |
|
probably benign |
Het |
| Ktn1 |
T |
A |
14: 47,952,119 (GRCm39) |
D963E |
probably benign |
Het |
| Lclat1 |
T |
A |
17: 73,547,022 (GRCm39) |
V313E |
probably benign |
Het |
| Lrrn4 |
T |
C |
2: 132,712,639 (GRCm39) |
S395G |
probably benign |
Het |
| Macroh2a1 |
G |
A |
13: 56,243,927 (GRCm39) |
|
probably benign |
Het |
| Mbtps1 |
G |
A |
8: 120,264,856 (GRCm39) |
|
probably benign |
Het |
| Me1 |
A |
G |
9: 86,478,257 (GRCm39) |
|
probably benign |
Het |
| Mov10 |
C |
A |
3: 104,702,721 (GRCm39) |
C948F |
probably benign |
Het |
| Mterf1a |
G |
A |
5: 3,940,990 (GRCm39) |
Q293* |
probably null |
Het |
| Nfkb2 |
A |
T |
19: 46,300,065 (GRCm39) |
M838L |
possibly damaging |
Het |
| Nhlrc2 |
T |
A |
19: 56,540,302 (GRCm39) |
L97Q |
probably damaging |
Het |
| Nr6a1 |
A |
T |
2: 38,629,032 (GRCm39) |
Y331N |
possibly damaging |
Het |
| Nup214 |
C |
T |
2: 31,924,826 (GRCm39) |
A1785V |
probably damaging |
Het |
| Ogg1 |
C |
T |
6: 113,306,217 (GRCm39) |
T138I |
probably benign |
Het |
| Or5ac20 |
A |
G |
16: 59,104,116 (GRCm39) |
V248A |
probably damaging |
Het |
| Or5b107 |
A |
G |
19: 13,143,251 (GRCm39) |
Y291C |
probably damaging |
Het |
| Or5b124 |
A |
G |
19: 13,611,048 (GRCm39) |
Y191C |
probably damaging |
Het |
| Or7g17 |
T |
A |
9: 18,768,127 (GRCm39) |
Y60N |
probably damaging |
Het |
| Plod2 |
G |
T |
9: 92,466,574 (GRCm39) |
R178L |
probably benign |
Het |
| Polr3b |
T |
A |
10: 84,554,339 (GRCm39) |
L1017Q |
probably benign |
Het |
| Postn |
C |
A |
3: 54,291,971 (GRCm39) |
T724N |
probably damaging |
Het |
| Ppm1l |
T |
G |
3: 69,225,309 (GRCm39) |
|
probably benign |
Het |
| Psma7 |
A |
G |
2: 179,681,193 (GRCm39) |
V59A |
probably benign |
Het |
| Qser1 |
T |
A |
2: 104,619,306 (GRCm39) |
Y502F |
probably benign |
Het |
| Rad50 |
T |
C |
11: 53,558,852 (GRCm39) |
D1129G |
probably damaging |
Het |
| Rasal1 |
C |
A |
5: 120,812,794 (GRCm39) |
P606Q |
probably damaging |
Het |
| Rgs6 |
A |
G |
12: 83,180,463 (GRCm39) |
Y438C |
probably damaging |
Het |
| Rnf180 |
A |
G |
13: 105,388,774 (GRCm39) |
C73R |
probably benign |
Het |
| Rnf216 |
T |
A |
5: 143,065,996 (GRCm39) |
I474F |
possibly damaging |
Het |
| Sdha |
A |
T |
13: 74,480,366 (GRCm39) |
L371Q |
probably damaging |
Het |
| Sdk1 |
T |
G |
5: 142,070,321 (GRCm39) |
L1162R |
possibly damaging |
Het |
| Sh3rf2 |
T |
C |
18: 42,237,146 (GRCm39) |
I223T |
probably damaging |
Het |
| Sirpb1a |
A |
G |
3: 15,475,587 (GRCm39) |
V316A |
probably damaging |
Het |
| Slc12a4 |
A |
T |
8: 106,672,021 (GRCm39) |
I897N |
probably benign |
Het |
| Slc35d1 |
A |
T |
4: 103,048,035 (GRCm39) |
V243E |
probably damaging |
Het |
| Slc4a11 |
T |
A |
2: 130,532,852 (GRCm39) |
K200N |
possibly damaging |
Het |
| Slc9a8 |
T |
A |
2: 167,293,216 (GRCm39) |
M188K |
probably damaging |
Het |
| Slco1a8 |
T |
A |
6: 141,918,137 (GRCm39) |
I580F |
possibly damaging |
Het |
| Snrnp200 |
T |
C |
2: 127,074,902 (GRCm39) |
S1492P |
probably damaging |
Het |
| Sphk2 |
T |
C |
7: 45,360,149 (GRCm39) |
*618W |
probably null |
Het |
| Sytl2 |
T |
C |
7: 90,052,228 (GRCm39) |
|
probably benign |
Het |
| Tdpoz3 |
A |
G |
3: 93,734,231 (GRCm39) |
N302S |
probably benign |
Het |
| Tdrd6 |
T |
C |
17: 43,935,199 (GRCm39) |
M1950V |
probably benign |
Het |
| Tmem39a |
A |
G |
16: 38,384,675 (GRCm39) |
|
probably benign |
Het |
| Trip4 |
A |
T |
9: 65,765,640 (GRCm39) |
I353K |
probably damaging |
Het |
| Trip6 |
A |
T |
5: 137,311,103 (GRCm39) |
F204L |
probably benign |
Het |
| Trpm4 |
T |
A |
7: 44,968,677 (GRCm39) |
I419F |
possibly damaging |
Het |
| Ttn |
C |
A |
2: 76,775,140 (GRCm39) |
E1967D |
probably damaging |
Het |
| Uba2 |
C |
T |
7: 33,850,281 (GRCm39) |
V391M |
possibly damaging |
Het |
| Ubr4 |
T |
G |
4: 139,206,746 (GRCm39) |
|
probably benign |
Het |
| Upf1 |
G |
A |
8: 70,788,295 (GRCm39) |
|
probably benign |
Het |
| Vmn1r228 |
A |
C |
17: 20,996,858 (GRCm39) |
V220G |
possibly damaging |
Het |
| Vmn2r79 |
A |
G |
7: 86,652,594 (GRCm39) |
M429V |
probably benign |
Het |
| Vps36 |
C |
T |
8: 22,700,472 (GRCm39) |
T210I |
possibly damaging |
Het |
| Wdr17 |
C |
T |
8: 55,146,131 (GRCm39) |
A90T |
possibly damaging |
Het |
| Ybx1 |
C |
T |
4: 119,138,788 (GRCm39) |
G126D |
probably benign |
Het |
| Yipf5 |
C |
A |
18: 40,339,460 (GRCm39) |
|
probably benign |
Het |
| Zbtb47 |
A |
G |
9: 121,596,641 (GRCm39) |
T666A |
probably benign |
Het |
| Zdhhc5 |
A |
C |
2: 84,520,459 (GRCm39) |
S573A |
probably benign |
Het |
| Zfp457 |
A |
T |
13: 67,441,991 (GRCm39) |
C99S |
probably damaging |
Het |
| Zfp52 |
T |
A |
17: 21,781,564 (GRCm39) |
C471S |
probably damaging |
Het |
| Zfp558 |
C |
T |
9: 18,379,252 (GRCm39) |
V71I |
probably damaging |
Het |
| Zfp655 |
A |
G |
5: 145,181,267 (GRCm39) |
Y375C |
probably damaging |
Het |
| Zfp882 |
A |
T |
8: 72,668,459 (GRCm39) |
T429S |
probably benign |
Het |
| Zmym2 |
T |
C |
14: 57,187,141 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- TTGGCACCTTAAGCAACTGGGGAC -3'
(R):5'- GGCTTCAATGCCTTCACTGAGATCTG -3'
Sequencing Primer
(F):5'- GAGAGCCTCACAAAACTGATG -3'
(R):5'- atccacctgcctctgcc -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation