Incidental Mutation 'R0893:Prpf8'
ID |
83604 |
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 |
039056-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.959)
|
Stock # |
R0893 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
75486816-75509449 bp(+) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 75493949 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 718
(K718E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115635
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018449]
[ENSMUST00000102510]
[ENSMUST00000131283]
|
AlphaFold |
Q99PV0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000018449
AA Change: K773E
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000018449 Gene: ENSMUSG00000020850 AA Change: K773E
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: K773E
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000099568 Gene: ENSMUSG00000020850 AA Change: K773E
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 damaging
Transcript: ENSMUST00000131283
AA Change: K718E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000115635 Gene: ENSMUSG00000020850 AA Change: K718E
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133995
|
Meta Mutation Damage Score |
0.6930  |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 95.1%
|
Validation Efficiency |
99% (77/78) |
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
T |
A |
12: 71,219,308 (GRCm38) |
|
probably benign |
Het |
4921501E09Rik |
T |
C |
17: 33,065,289 (GRCm38) |
I846M |
probably benign |
Het |
Adnp |
A |
T |
2: 168,183,727 (GRCm38) |
F549L |
possibly damaging |
Het |
Agl |
A |
G |
3: 116,753,286 (GRCm38) |
I1305T |
probably benign |
Het |
Aldh8a1 |
T |
A |
10: 21,391,694 (GRCm38) |
M326K |
probably benign |
Het |
Amdhd1 |
A |
T |
10: 93,527,651 (GRCm38) |
M295K |
probably damaging |
Het |
Arhgef4 |
T |
A |
1: 34,807,110 (GRCm38) |
C324S |
probably damaging |
Het |
Car8 |
A |
T |
4: 8,238,119 (GRCm38) |
|
probably null |
Het |
Cc2d1a |
T |
C |
8: 84,140,839 (GRCm38) |
|
probably benign |
Het |
Cd81 |
G |
A |
7: 143,062,505 (GRCm38) |
V27M |
possibly damaging |
Het |
Ces1b |
A |
T |
8: 93,079,428 (GRCm38) |
S62T |
probably benign |
Het |
Cfb |
A |
G |
17: 34,858,055 (GRCm38) |
S30P |
probably damaging |
Het |
Cmtm3 |
A |
G |
8: 104,343,911 (GRCm38) |
M101V |
possibly damaging |
Het |
Cul7 |
T |
A |
17: 46,663,190 (GRCm38) |
L1467H |
probably damaging |
Het |
Ddb1 |
C |
T |
19: 10,612,916 (GRCm38) |
S269L |
probably benign |
Het |
Ddx25 |
G |
A |
9: 35,554,390 (GRCm38) |
Q143* |
probably null |
Het |
Dis3l2 |
T |
A |
1: 87,044,206 (GRCm38) |
|
probably null |
Het |
Dlgap4 |
G |
T |
2: 156,745,978 (GRCm38) |
E598* |
probably null |
Het |
Dus1l |
C |
T |
11: 120,789,436 (GRCm38) |
G471D |
possibly damaging |
Het |
Elp4 |
C |
A |
2: 105,896,945 (GRCm38) |
|
probably benign |
Het |
Eya3 |
A |
G |
4: 132,689,786 (GRCm38) |
N194S |
probably benign |
Het |
Gm9992 |
A |
G |
17: 7,374,527 (GRCm38) |
L174P |
probably damaging |
Het |
Golgb1 |
G |
T |
16: 36,912,277 (GRCm38) |
V629L |
possibly damaging |
Het |
Hars2 |
G |
A |
18: 36,787,595 (GRCm38) |
A164T |
possibly damaging |
Het |
Hexb |
T |
A |
13: 97,185,627 (GRCm38) |
I217L |
probably benign |
Het |
Hgh1 |
A |
G |
15: 76,369,648 (GRCm38) |
|
probably null |
Het |
Hsd3b3 |
A |
T |
3: 98,742,441 (GRCm38) |
|
probably null |
Het |
Ighg2c |
T |
A |
12: 113,287,433 (GRCm38) |
N321Y |
unknown |
Het |
Il5 |
A |
G |
11: 53,720,936 (GRCm38) |
T34A |
probably benign |
Het |
Jph1 |
C |
A |
1: 17,004,283 (GRCm38) |
E504* |
probably null |
Het |
Kif2b |
G |
T |
11: 91,575,594 (GRCm38) |
T621K |
probably benign |
Het |
Kmt2c |
A |
T |
5: 25,351,270 (GRCm38) |
|
probably benign |
Het |
Leprotl1 |
A |
G |
8: 34,138,852 (GRCm38) |
|
probably null |
Het |
Lpar3 |
C |
T |
3: 146,240,593 (GRCm38) |
R9C |
possibly damaging |
Het |
Map1a |
A |
G |
2: 121,300,533 (GRCm38) |
E372G |
probably damaging |
Het |
Map2 |
C |
A |
1: 66,380,768 (GRCm38) |
T86K |
probably damaging |
Het |
Map7 |
A |
G |
10: 20,273,883 (GRCm38) |
|
probably null |
Het |
Mdn1 |
T |
C |
4: 32,701,713 (GRCm38) |
V1482A |
probably benign |
Het |
Mks1 |
G |
A |
11: 87,856,951 (GRCm38) |
|
probably benign |
Het |
Morf4l1 |
T |
G |
9: 90,102,350 (GRCm38) |
K102N |
probably damaging |
Het |
Mroh1 |
T |
A |
15: 76,408,938 (GRCm38) |
V304D |
possibly damaging |
Het |
Mtg1 |
G |
A |
7: 140,149,752 (GRCm38) |
V252M |
probably damaging |
Het |
Myh13 |
A |
T |
11: 67,334,601 (GRCm38) |
D264V |
probably damaging |
Het |
Myh2 |
A |
G |
11: 67,186,508 (GRCm38) |
Y823C |
possibly damaging |
Het |
Myoz1 |
A |
T |
14: 20,651,184 (GRCm38) |
S112R |
probably benign |
Het |
Ncapd2 |
A |
G |
6: 125,173,482 (GRCm38) |
V860A |
probably benign |
Het |
Nfix |
G |
A |
8: 84,726,526 (GRCm38) |
R300C |
probably damaging |
Het |
Npffr1 |
T |
C |
10: 61,614,231 (GRCm38) |
F95L |
possibly damaging |
Het |
Olfr585 |
G |
T |
7: 103,098,434 (GRCm38) |
R231L |
probably benign |
Het |
Olfr877 |
T |
C |
9: 37,855,196 (GRCm38) |
I126T |
probably damaging |
Het |
Orc4 |
A |
C |
2: 48,932,610 (GRCm38) |
|
probably benign |
Het |
P3h3 |
A |
C |
6: 124,845,513 (GRCm38) |
I565R |
probably damaging |
Het |
Pak4 |
T |
C |
7: 28,559,777 (GRCm38) |
D552G |
probably benign |
Het |
Pcdhb4 |
G |
T |
18: 37,309,370 (GRCm38) |
|
probably null |
Het |
Pdcd4 |
G |
T |
19: 53,929,094 (GRCm38) |
R454L |
probably damaging |
Het |
Pkd1l2 |
A |
G |
8: 117,044,492 (GRCm38) |
I1116T |
probably damaging |
Het |
Plcb2 |
A |
G |
2: 118,725,105 (GRCm38) |
|
probably benign |
Het |
Pmpca |
T |
C |
2: 26,393,218 (GRCm38) |
|
probably benign |
Het |
Pnpla7 |
T |
A |
2: 24,997,240 (GRCm38) |
I32N |
probably damaging |
Het |
Racgap1 |
C |
T |
15: 99,626,530 (GRCm38) |
A359T |
probably benign |
Het |
Rgs3 |
G |
A |
4: 62,605,561 (GRCm38) |
|
probably null |
Het |
Rhpn1 |
A |
G |
15: 75,711,654 (GRCm38) |
E356G |
probably damaging |
Het |
Rps6ka5 |
T |
C |
12: 100,574,438 (GRCm38) |
H488R |
possibly damaging |
Het |
Scn11a |
A |
G |
9: 119,803,330 (GRCm38) |
|
probably null |
Het |
Sema4f |
A |
T |
6: 82,935,967 (GRCm38) |
|
probably benign |
Het |
Serpina1f |
A |
G |
12: 103,693,835 (GRCm38) |
S63P |
probably damaging |
Het |
Slc9a3 |
T |
C |
13: 74,159,246 (GRCm38) |
W386R |
probably damaging |
Het |
Slc9b1 |
A |
C |
3: 135,394,890 (GRCm38) |
L465F |
probably benign |
Het |
Smc5 |
A |
G |
19: 23,263,653 (GRCm38) |
V165A |
possibly damaging |
Het |
Tex10 |
C |
T |
4: 48,456,800 (GRCm38) |
R637Q |
probably benign |
Het |
Tinagl1 |
G |
T |
4: 130,174,023 (GRCm38) |
D59E |
probably damaging |
Het |
Tns3 |
A |
G |
11: 8,493,302 (GRCm38) |
Y354H |
probably damaging |
Het |
Trappc9 |
C |
T |
15: 72,590,107 (GRCm38) |
G1103D |
probably damaging |
Het |
Unc79 |
A |
T |
12: 102,991,428 (GRCm38) |
D34V |
probably damaging |
Het |
Unc80 |
T |
C |
1: 66,521,486 (GRCm38) |
L791P |
probably damaging |
Het |
Xpo7 |
G |
T |
14: 70,666,097 (GRCm38) |
|
probably benign |
Het |
Zbtb1 |
T |
A |
12: 76,385,339 (GRCm38) |
I33N |
probably damaging |
Het |
|
Other mutations in Prpf8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01375:Prpf8
|
APN |
11 |
75,494,295 (GRCm38) |
missense |
possibly damaging |
0.94 |
IGL01376:Prpf8
|
APN |
11 |
75,494,295 (GRCm38) |
missense |
possibly damaging |
0.94 |
IGL01393:Prpf8
|
APN |
11 |
75,494,295 (GRCm38) |
missense |
possibly damaging |
0.94 |
IGL01395:Prpf8
|
APN |
11 |
75,494,295 (GRCm38) |
missense |
possibly damaging |
0.94 |
IGL01554:Prpf8
|
APN |
11 |
75,495,646 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL01560:Prpf8
|
APN |
11 |
75,490,406 (GRCm38) |
missense |
possibly damaging |
0.55 |
IGL01886:Prpf8
|
APN |
11 |
75,495,744 (GRCm38) |
missense |
probably benign |
0.32 |
IGL01946:Prpf8
|
APN |
11 |
75,499,992 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02022:Prpf8
|
APN |
11 |
75,501,834 (GRCm38) |
nonsense |
probably null |
|
IGL02077:Prpf8
|
APN |
11 |
75,495,809 (GRCm38) |
missense |
probably damaging |
0.96 |
IGL02141:Prpf8
|
APN |
11 |
75,490,672 (GRCm38) |
missense |
possibly damaging |
0.68 |
IGL02455:Prpf8
|
APN |
11 |
75,509,258 (GRCm38) |
missense |
probably benign |
0.32 |
cutter
|
UTSW |
11 |
75,495,426 (GRCm38) |
splice site |
probably null |
|
BB009:Prpf8
|
UTSW |
11 |
75,492,597 (GRCm38) |
missense |
possibly damaging |
0.92 |
BB019:Prpf8
|
UTSW |
11 |
75,492,597 (GRCm38) |
missense |
possibly damaging |
0.92 |
PIT4514001:Prpf8
|
UTSW |
11 |
75,496,355 (GRCm38) |
missense |
possibly damaging |
0.53 |
R0254:Prpf8
|
UTSW |
11 |
75,506,362 (GRCm38) |
missense |
possibly damaging |
0.93 |
R0270:Prpf8
|
UTSW |
11 |
75,505,249 (GRCm38) |
missense |
probably damaging |
0.99 |
R0504:Prpf8
|
UTSW |
11 |
75,501,942 (GRCm38) |
splice site |
probably benign |
|
R0573:Prpf8
|
UTSW |
11 |
75,490,654 (GRCm38) |
missense |
probably damaging |
1.00 |
R0613:Prpf8
|
UTSW |
11 |
75,503,444 (GRCm38) |
missense |
probably damaging |
1.00 |
R0967:Prpf8
|
UTSW |
11 |
75,494,430 (GRCm38) |
missense |
probably damaging |
1.00 |
R0975:Prpf8
|
UTSW |
11 |
75,508,674 (GRCm38) |
unclassified |
probably benign |
|
R1123:Prpf8
|
UTSW |
11 |
75,495,285 (GRCm38) |
missense |
probably damaging |
1.00 |
R1183:Prpf8
|
UTSW |
11 |
75,490,330 (GRCm38) |
missense |
possibly damaging |
0.95 |
R1857:Prpf8
|
UTSW |
11 |
75,495,423 (GRCm38) |
critical splice donor site |
probably null |
|
R1901:Prpf8
|
UTSW |
11 |
75,504,744 (GRCm38) |
missense |
probably damaging |
0.99 |
R1950:Prpf8
|
UTSW |
11 |
75,496,511 (GRCm38) |
missense |
possibly damaging |
0.72 |
R2116:Prpf8
|
UTSW |
11 |
75,487,721 (GRCm38) |
missense |
possibly damaging |
0.51 |
R2147:Prpf8
|
UTSW |
11 |
75,490,531 (GRCm38) |
missense |
probably benign |
|
R2185:Prpf8
|
UTSW |
11 |
75,487,113 (GRCm38) |
nonsense |
probably null |
|
R2271:Prpf8
|
UTSW |
11 |
75,495,363 (GRCm38) |
missense |
probably damaging |
1.00 |
R2272:Prpf8
|
UTSW |
11 |
75,495,363 (GRCm38) |
missense |
probably damaging |
1.00 |
R2898:Prpf8
|
UTSW |
11 |
75,496,034 (GRCm38) |
missense |
probably benign |
0.00 |
R3744:Prpf8
|
UTSW |
11 |
75,506,721 (GRCm38) |
splice site |
probably null |
|
R3893:Prpf8
|
UTSW |
11 |
75,500,257 (GRCm38) |
missense |
possibly damaging |
0.73 |
R4400:Prpf8
|
UTSW |
11 |
75,490,702 (GRCm38) |
missense |
possibly damaging |
0.63 |
R4510:Prpf8
|
UTSW |
11 |
75,491,826 (GRCm38) |
missense |
probably damaging |
0.96 |
R4511:Prpf8
|
UTSW |
11 |
75,491,826 (GRCm38) |
missense |
probably damaging |
0.96 |
R4784:Prpf8
|
UTSW |
11 |
75,492,505 (GRCm38) |
missense |
probably damaging |
1.00 |
R5089:Prpf8
|
UTSW |
11 |
75,509,228 (GRCm38) |
splice site |
probably null |
|
R5186:Prpf8
|
UTSW |
11 |
75,489,783 (GRCm38) |
missense |
possibly damaging |
0.93 |
R5215:Prpf8
|
UTSW |
11 |
75,500,204 (GRCm38) |
missense |
probably benign |
0.02 |
R5288:Prpf8
|
UTSW |
11 |
75,495,799 (GRCm38) |
missense |
probably damaging |
1.00 |
R5362:Prpf8
|
UTSW |
11 |
75,506,410 (GRCm38) |
missense |
possibly damaging |
0.53 |
R5384:Prpf8
|
UTSW |
11 |
75,495,799 (GRCm38) |
missense |
probably damaging |
1.00 |
R5386:Prpf8
|
UTSW |
11 |
75,495,799 (GRCm38) |
missense |
probably damaging |
1.00 |
R5423:Prpf8
|
UTSW |
11 |
75,508,958 (GRCm38) |
missense |
probably damaging |
1.00 |
R5472:Prpf8
|
UTSW |
11 |
75,503,643 (GRCm38) |
missense |
possibly damaging |
0.89 |
R5539:Prpf8
|
UTSW |
11 |
75,503,638 (GRCm38) |
missense |
probably benign |
0.20 |
R5620:Prpf8
|
UTSW |
11 |
75,505,101 (GRCm38) |
missense |
possibly damaging |
0.95 |
R5669:Prpf8
|
UTSW |
11 |
75,504,738 (GRCm38) |
missense |
probably damaging |
1.00 |
R5887:Prpf8
|
UTSW |
11 |
75,500,908 (GRCm38) |
missense |
possibly damaging |
0.87 |
R5948:Prpf8
|
UTSW |
11 |
75,509,189 (GRCm38) |
missense |
possibly damaging |
0.95 |
R6073:Prpf8
|
UTSW |
11 |
75,494,022 (GRCm38) |
critical splice donor site |
probably null |
|
R6250:Prpf8
|
UTSW |
11 |
75,493,508 (GRCm38) |
missense |
possibly damaging |
0.95 |
R6358:Prpf8
|
UTSW |
11 |
75,491,495 (GRCm38) |
missense |
probably benign |
0.33 |
R6629:Prpf8
|
UTSW |
11 |
75,495,426 (GRCm38) |
splice site |
probably null |
|
R6804:Prpf8
|
UTSW |
11 |
75,499,809 (GRCm38) |
missense |
possibly damaging |
0.71 |
R6922:Prpf8
|
UTSW |
11 |
75,490,736 (GRCm38) |
missense |
probably damaging |
1.00 |
R7035:Prpf8
|
UTSW |
11 |
75,504,828 (GRCm38) |
missense |
possibly damaging |
0.72 |
R7038:Prpf8
|
UTSW |
11 |
75,496,158 (GRCm38) |
missense |
probably benign |
0.02 |
R7089:Prpf8
|
UTSW |
11 |
75,508,548 (GRCm38) |
missense |
probably damaging |
0.99 |
R7101:Prpf8
|
UTSW |
11 |
75,490,400 (GRCm38) |
missense |
possibly damaging |
0.85 |
R7114:Prpf8
|
UTSW |
11 |
75,503,355 (GRCm38) |
nonsense |
probably null |
|
R7182:Prpf8
|
UTSW |
11 |
75,490,727 (GRCm38) |
missense |
possibly damaging |
0.96 |
R7290:Prpf8
|
UTSW |
11 |
75,493,957 (GRCm38) |
missense |
possibly damaging |
0.85 |
R7323:Prpf8
|
UTSW |
11 |
75,491,784 (GRCm38) |
missense |
probably benign |
0.32 |
R7485:Prpf8
|
UTSW |
11 |
75,508,912 (GRCm38) |
nonsense |
probably null |
|
R7522:Prpf8
|
UTSW |
11 |
75,509,276 (GRCm38) |
missense |
possibly damaging |
0.82 |
R7546:Prpf8
|
UTSW |
11 |
75,508,374 (GRCm38) |
missense |
probably damaging |
1.00 |
R7596:Prpf8
|
UTSW |
11 |
75,491,504 (GRCm38) |
missense |
probably benign |
0.03 |
R7699:Prpf8
|
UTSW |
11 |
75,500,196 (GRCm38) |
missense |
probably benign |
0.02 |
R7731:Prpf8
|
UTSW |
11 |
75,508,906 (GRCm38) |
missense |
probably damaging |
0.97 |
R7821:Prpf8
|
UTSW |
11 |
75,494,474 (GRCm38) |
missense |
probably benign |
0.01 |
R7932:Prpf8
|
UTSW |
11 |
75,492,597 (GRCm38) |
missense |
possibly damaging |
0.92 |
R8039:Prpf8
|
UTSW |
11 |
75,502,542 (GRCm38) |
missense |
possibly damaging |
0.95 |
R8067:Prpf8
|
UTSW |
11 |
75,500,150 (GRCm38) |
missense |
probably damaging |
0.98 |
R8316:Prpf8
|
UTSW |
11 |
75,499,815 (GRCm38) |
missense |
possibly damaging |
0.71 |
R8560:Prpf8
|
UTSW |
11 |
75,491,774 (GRCm38) |
nonsense |
probably null |
|
R8823:Prpf8
|
UTSW |
11 |
75,493,456 (GRCm38) |
missense |
probably benign |
0.05 |
R8977:Prpf8
|
UTSW |
11 |
75,496,044 (GRCm38) |
missense |
probably benign |
0.12 |
R9116:Prpf8
|
UTSW |
11 |
75,489,763 (GRCm38) |
missense |
possibly damaging |
0.71 |
R9166:Prpf8
|
UTSW |
11 |
75,496,514 (GRCm38) |
missense |
possibly damaging |
0.53 |
R9360:Prpf8
|
UTSW |
11 |
75,490,330 (GRCm38) |
missense |
possibly damaging |
0.95 |
R9453:Prpf8
|
UTSW |
11 |
75,506,386 (GRCm38) |
missense |
possibly damaging |
0.56 |
R9518:Prpf8
|
UTSW |
11 |
75,503,660 (GRCm38) |
missense |
possibly damaging |
0.72 |
R9532:Prpf8
|
UTSW |
11 |
75,494,782 (GRCm38) |
missense |
probably benign |
0.01 |
R9626:Prpf8
|
UTSW |
11 |
75,494,855 (GRCm38) |
missense |
possibly damaging |
0.53 |
R9760:Prpf8
|
UTSW |
11 |
75,503,431 (GRCm38) |
missense |
probably benign |
0.20 |
X0028:Prpf8
|
UTSW |
11 |
75,506,764 (GRCm38) |
missense |
probably damaging |
0.99 |
Z1177:Prpf8
|
UTSW |
11 |
75,503,334 (GRCm38) |
missense |
probably benign |
0.35 |
|
Predicted Primers |
PCR Primer
(F):5'- ACATCCCTTGGAAGGTAGGCTCTC -3'
(R):5'- TAAGGCCCATCCTGGAAGGTGAAC -3'
Sequencing Primer
(F):5'- caatctgcctccgcctc -3'
(R):5'- TGGAAGGTGAACGTCAGGTTAG -3'
|
Posted On |
2013-11-08 |