Incidental Mutation 'BB009:Prpf8'
| ID |
642544 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prpf8
|
| Ensembl Gene |
ENSMUSG00000020850 |
| Gene Name |
pre-mRNA processing factor 8 |
| Synonyms |
Sfprp8l, D11Bwg0410e, DBF3/PRP8, Prp8 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
BB009
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
75377642-75400275 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75383423 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 607
(D607G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018449
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018449]
[ENSMUST00000102510]
[ENSMUST00000131283]
|
| AlphaFold |
Q99PV0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000018449
AA Change: D607G
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000018449
Gene: ENSMUSG00000020850
AA Change: D607G
| 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: D607G
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000099568
Gene: ENSMUSG00000020850
AA Change: D607G
| 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: D552G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115635
Gene: ENSMUSG00000020850
AA Change: D552G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss2 |
A |
G |
2: 155,415,100 (GRCm39) |
R666G |
unknown |
Het |
| Adam21 |
T |
A |
12: 81,606,938 (GRCm39) |
N275Y |
probably damaging |
Het |
| Arhgap24 |
A |
T |
5: 102,993,835 (GRCm39) |
|
probably benign |
Het |
| Arhgef1 |
C |
T |
7: 24,619,135 (GRCm39) |
L459F |
probably damaging |
Het |
| Bbx |
A |
T |
16: 50,030,806 (GRCm39) |
|
probably null |
Het |
| Blk |
C |
T |
14: 63,611,008 (GRCm39) |
G445S |
possibly damaging |
Het |
| Brca1 |
T |
C |
11: 101,430,843 (GRCm39) |
E33G |
possibly damaging |
Het |
| Cacna1s |
T |
G |
1: 136,012,097 (GRCm39) |
L513R |
probably damaging |
Het |
| Cnn3 |
T |
A |
3: 121,245,078 (GRCm39) |
M98K |
probably benign |
Het |
| Cttnbp2 |
T |
A |
6: 18,427,532 (GRCm39) |
L716F |
probably damaging |
Het |
| Dlgap1 |
A |
T |
17: 70,823,233 (GRCm39) |
R73W |
probably damaging |
Het |
| Dnajc4 |
A |
G |
19: 6,965,638 (GRCm39) |
L182P |
probably damaging |
Het |
| Dock2 |
T |
C |
11: 34,217,998 (GRCm39) |
M1191V |
probably benign |
Het |
| Fam13a |
C |
T |
6: 58,960,873 (GRCm39) |
|
probably null |
Het |
| Fbn2 |
C |
T |
18: 58,153,555 (GRCm39) |
G2569E |
possibly damaging |
Het |
| Fes |
T |
C |
7: 80,029,620 (GRCm39) |
I623V |
probably damaging |
Het |
| Fyco1 |
A |
C |
9: 123,658,055 (GRCm39) |
L707R |
possibly damaging |
Het |
| Gadd45b |
T |
A |
10: 80,766,169 (GRCm39) |
V7E |
possibly damaging |
Het |
| Gm19410 |
T |
A |
8: 36,262,753 (GRCm39) |
C897S |
probably damaging |
Het |
| Hk1 |
A |
G |
10: 62,151,299 (GRCm39) |
L31P |
probably damaging |
Het |
| Hoxa4 |
T |
G |
6: 52,167,397 (GRCm39) |
K261N |
probably damaging |
Het |
| Hrh4 |
T |
A |
18: 13,148,869 (GRCm39) |
L77* |
probably null |
Het |
| Igf1r |
A |
T |
7: 67,861,802 (GRCm39) |
I1121F |
possibly damaging |
Het |
| Igkv16-104 |
A |
T |
6: 68,402,778 (GRCm39) |
I24L |
probably benign |
Het |
| Itk |
A |
T |
11: 46,231,519 (GRCm39) |
W346R |
probably benign |
Het |
| Kdm2a |
A |
G |
19: 4,369,184 (GRCm39) |
S1144P |
probably damaging |
Het |
| Krt86 |
A |
T |
15: 101,374,473 (GRCm39) |
S289C |
probably damaging |
Het |
| Lonrf1 |
T |
C |
8: 36,690,070 (GRCm39) |
I663V |
probably benign |
Het |
| Lrp2 |
T |
G |
2: 69,256,371 (GRCm39) |
I4590L |
probably benign |
Het |
| Lrrc8d |
C |
T |
5: 105,960,891 (GRCm39) |
R434C |
probably damaging |
Het |
| Maneal |
T |
C |
4: 124,755,638 (GRCm39) |
Y108C |
probably damaging |
Het |
| Muc21 |
TCCTGAGGCAGTGCTGGATACAGGGGTGGTTGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGAT |
TCCTGAGGCAGTGCTGGAT |
17: 35,933,525 (GRCm39) |
|
probably benign |
Het |
| Myh8 |
G |
A |
11: 67,185,430 (GRCm39) |
V894I |
probably benign |
Het |
| Ncam2 |
T |
G |
16: 81,412,708 (GRCm39) |
L732R |
probably damaging |
Het |
| Nsun4 |
A |
T |
4: 115,901,997 (GRCm39) |
D156E |
probably damaging |
Het |
| Or10z1 |
T |
C |
1: 174,078,260 (GRCm39) |
I78V |
probably benign |
Het |
| Or1e23 |
A |
C |
11: 73,407,983 (GRCm39) |
L14R |
probably damaging |
Het |
| Or2n1d |
A |
T |
17: 38,646,146 (GRCm39) |
I33L |
probably benign |
Het |
| Or5b106 |
A |
T |
19: 13,123,345 (GRCm39) |
M226K |
probably benign |
Het |
| Or5v1b |
T |
C |
17: 37,841,075 (GRCm39) |
I69T |
probably benign |
Het |
| Or6c66 |
C |
A |
10: 129,461,094 (GRCm39) |
V279F |
probably damaging |
Het |
| P2rx7 |
G |
A |
5: 122,782,245 (GRCm39) |
V37I |
probably benign |
Het |
| Pcdh15 |
A |
G |
10: 74,481,359 (GRCm39) |
R235G |
probably benign |
Het |
| Pcdhga1 |
T |
C |
18: 37,796,513 (GRCm39) |
S506P |
probably damaging |
Het |
| Pira2 |
A |
T |
7: 3,845,435 (GRCm39) |
|
probably null |
Het |
| Plch1 |
A |
G |
3: 63,609,402 (GRCm39) |
V935A |
probably benign |
Het |
| Plscr4 |
C |
T |
9: 92,372,843 (GRCm39) |
R322* |
probably null |
Het |
| Ptdss1 |
T |
C |
13: 67,114,496 (GRCm39) |
W215R |
probably damaging |
Het |
| Ptpn9 |
C |
A |
9: 56,943,900 (GRCm39) |
P258Q |
possibly damaging |
Het |
| Rfpl4b |
A |
G |
10: 38,697,346 (GRCm39) |
V85A |
possibly damaging |
Het |
| Sacs |
C |
A |
14: 61,442,327 (GRCm39) |
Q1458K |
probably damaging |
Het |
| Scfd2 |
A |
T |
5: 74,692,211 (GRCm39) |
S24T |
probably benign |
Het |
| Siae |
A |
G |
9: 37,544,980 (GRCm39) |
D325G |
probably benign |
Het |
| Slc22a23 |
C |
A |
13: 34,366,960 (GRCm39) |
A683S |
probably damaging |
Het |
| Slc44a3 |
A |
T |
3: 121,306,009 (GRCm39) |
I244N |
possibly damaging |
Het |
| Srrm2 |
T |
A |
17: 24,037,501 (GRCm39) |
S1382T |
probably benign |
Het |
| Tfap2c |
A |
G |
2: 172,393,706 (GRCm39) |
Y207C |
probably damaging |
Het |
| Timd5 |
C |
A |
11: 46,426,366 (GRCm39) |
P158T |
probably benign |
Het |
| Tnc |
T |
C |
4: 63,926,857 (GRCm39) |
I890V |
probably benign |
Het |
| Trim30a |
A |
T |
7: 104,078,545 (GRCm39) |
I177N |
probably benign |
Het |
| Tshz2 |
T |
A |
2: 169,728,251 (GRCm39) |
M949K |
possibly damaging |
Het |
| Ttn |
T |
G |
2: 76,555,530 (GRCm39) |
T30492P |
probably damaging |
Het |
| Ubb |
C |
T |
11: 62,443,611 (GRCm39) |
Q214* |
probably null |
Het |
| Ulk2 |
A |
G |
11: 61,698,916 (GRCm39) |
S423P |
probably benign |
Het |
| Vmn1r237 |
C |
A |
17: 21,534,725 (GRCm39) |
D149E |
probably benign |
Het |
| Zbtb24 |
A |
G |
10: 41,327,504 (GRCm39) |
D130G |
probably benign |
Het |
| Zfp689 |
C |
A |
7: 127,043,523 (GRCm39) |
G369V |
probably damaging |
Het |
| Zg16 |
A |
G |
7: 126,649,577 (GRCm39) |
F128S |
probably damaging |
Het |
| Zmym1 |
T |
G |
4: 126,944,578 (GRCm39) |
N203T |
possibly 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 |
|
|
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 |
|
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'- CAATGTAGATGCCTTCCAGGTG -3'
(R):5'- GGGGAAGTGCTGTGATTCAC -3'
Sequencing Primer
(F):5'- TTCCAGGTGAGGCCATGCTG -3'
(R):5'- AAGTGCTGTGATTCACTGAGTATAG -3'
|
| Posted On |
2020-08-01 |
Incidental Mutation