Incidental Mutation 'R7485:Prpf8'
| ID |
580097 |
| 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 |
045559-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R7485 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
75377642-75400275 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 75399738 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 2266
(R2266*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018449
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018449]
[ENSMUST00000042808]
[ENSMUST00000042972]
[ENSMUST00000102510]
[ENSMUST00000118243]
[ENSMUST00000123819]
|
| AlphaFold |
Q99PV0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000018449
AA Change: R2266*
|
| SMART Domains |
Protein: ENSMUSP00000018449
Gene: ENSMUSG00000020850
AA Change: R2266*
| 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: ENSMUST00000042808
|
| SMART Domains |
Protein: ENSMUSP00000044248
Gene: ENSMUSG00000038188
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
EGF
|
54 |
90 |
2.16e1 |
SMART |
|
EGF
|
101 |
133 |
1.36e1 |
SMART |
|
EGF_like
|
165 |
193 |
4.55e1 |
SMART |
|
EGF_Lam
|
225 |
263 |
8.78e-2 |
SMART |
|
EGF_like
|
262 |
296 |
4.93e1 |
SMART |
|
EGF
|
307 |
341 |
2.69e1 |
SMART |
|
EGF
|
352 |
384 |
2.25e1 |
SMART |
|
transmembrane domain
|
424 |
446 |
N/A |
INTRINSIC |
|
low complexity region
|
520 |
535 |
N/A |
INTRINSIC |
|
low complexity region
|
791 |
805 |
N/A |
INTRINSIC |
|
| 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 null
Transcript: ENSMUST00000102510
AA Change: R2266*
|
| SMART Domains |
Protein: ENSMUSP00000099568
Gene: ENSMUSG00000020850
AA Change: R2266*
| 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: ENSMUST00000118243
|
| SMART Domains |
Protein: ENSMUSP00000114090
Gene: ENSMUSG00000038188
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
EGF
|
54 |
90 |
2.16e1 |
SMART |
|
EGF
|
101 |
133 |
1.36e1 |
SMART |
|
EGF_like
|
165 |
193 |
4.55e1 |
SMART |
|
EGF_Lam
|
225 |
263 |
8.78e-2 |
SMART |
|
EGF_like
|
262 |
296 |
4.93e1 |
SMART |
|
EGF
|
307 |
341 |
2.69e1 |
SMART |
|
EGF
|
352 |
384 |
2.25e1 |
SMART |
|
transmembrane domain
|
424 |
446 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123819
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
99% (99/100) |
| 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: 100 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adat3 |
C |
T |
10: 80,442,234 (GRCm39) |
A24V |
probably benign |
Het |
| Agbl1 |
A |
T |
7: 76,239,241 (GRCm39) |
E832D |
unknown |
Het |
| Akap8l |
G |
A |
17: 32,554,545 (GRCm39) |
S347L |
probably benign |
Het |
| Ankmy1 |
G |
T |
1: 92,804,379 (GRCm39) |
A868E |
probably damaging |
Het |
| Ankrd49 |
A |
T |
9: 14,693,837 (GRCm39) |
L110* |
probably null |
Het |
| Aoc3 |
A |
G |
11: 101,228,229 (GRCm39) |
T679A |
probably damaging |
Het |
| Ap1s3 |
A |
G |
1: 79,592,018 (GRCm39) |
Y111H |
probably damaging |
Het |
| Arnt |
T |
A |
3: 95,402,659 (GRCm39) |
N777K |
probably damaging |
Het |
| Atp4b |
A |
T |
8: 13,436,732 (GRCm39) |
M260K |
probably benign |
Het |
| Bcl2l15 |
A |
T |
3: 103,740,729 (GRCm39) |
D65V |
probably damaging |
Het |
| Bicdl1 |
G |
T |
5: 115,801,845 (GRCm39) |
S340* |
probably null |
Het |
| Ccdc15 |
T |
C |
9: 37,226,574 (GRCm39) |
R467G |
probably benign |
Het |
| Ccdc68 |
T |
A |
18: 70,102,084 (GRCm39) |
M327K |
possibly damaging |
Het |
| Ccdc83 |
T |
C |
7: 89,873,138 (GRCm39) |
T406A |
probably benign |
Het |
| Ccnf |
A |
T |
17: 24,468,232 (GRCm39) |
V55D |
probably damaging |
Het |
| Cdcp3 |
C |
A |
7: 130,830,562 (GRCm39) |
P332Q |
probably damaging |
Het |
| Cldn12 |
A |
G |
5: 5,558,008 (GRCm39) |
F140L |
probably benign |
Het |
| Copb1 |
A |
C |
7: 113,844,720 (GRCm39) |
I213S |
possibly damaging |
Het |
| Cps1 |
G |
A |
1: 67,179,016 (GRCm39) |
G76D |
probably damaging |
Het |
| Ctrc |
A |
G |
4: 141,567,627 (GRCm39) |
W159R |
probably damaging |
Het |
| Cul4a |
C |
T |
8: 13,190,279 (GRCm39) |
T572M |
possibly damaging |
Het |
| Cyp2c40 |
A |
T |
19: 39,796,050 (GRCm39) |
Y109* |
probably null |
Het |
| Dcc |
A |
G |
18: 71,553,317 (GRCm39) |
Y780H |
probably benign |
Het |
| Dctn1 |
C |
T |
6: 83,166,887 (GRCm39) |
A283V |
possibly damaging |
Het |
| Dio1 |
T |
C |
4: 107,154,874 (GRCm39) |
D134G |
probably benign |
Het |
| Dlg5 |
A |
T |
14: 24,198,390 (GRCm39) |
D1514E |
probably benign |
Het |
| Dlg5 |
A |
T |
14: 24,227,907 (GRCm39) |
L338Q |
probably damaging |
Het |
| Dlgap2 |
A |
T |
8: 14,879,952 (GRCm39) |
K767N |
probably damaging |
Het |
| Dst |
A |
T |
1: 34,313,270 (GRCm39) |
I4346F |
probably benign |
Het |
| Dzip1l |
T |
C |
9: 99,543,065 (GRCm39) |
F507L |
probably benign |
Het |
| Erich2 |
A |
T |
2: 70,362,109 (GRCm39) |
D300V |
probably damaging |
Het |
| Fam114a2 |
C |
T |
11: 57,404,515 (GRCm39) |
G83D |
probably damaging |
Het |
| Fam131a |
C |
T |
16: 20,520,444 (GRCm39) |
A299V |
probably benign |
Het |
| Fbln2 |
A |
G |
6: 91,247,143 (GRCm39) |
|
probably null |
Het |
| Fbn2 |
T |
C |
18: 58,204,912 (GRCm39) |
D1177G |
possibly damaging |
Het |
| Fbxl6 |
T |
C |
15: 76,422,113 (GRCm39) |
|
probably null |
Het |
| Frem3 |
A |
T |
8: 81,339,965 (GRCm39) |
I753F |
probably damaging |
Het |
| Gfra1 |
A |
G |
19: 58,288,744 (GRCm39) |
S234P |
probably damaging |
Het |
| Gtse1 |
T |
A |
15: 85,752,901 (GRCm39) |
S339T |
probably benign |
Het |
| Hdgfl3 |
T |
C |
7: 81,550,106 (GRCm39) |
N76S |
probably benign |
Het |
| Herc6 |
A |
G |
6: 57,558,089 (GRCm39) |
E23G |
probably benign |
Het |
| Hid1 |
T |
A |
11: 115,245,545 (GRCm39) |
H420L |
probably damaging |
Het |
| Igsf21 |
G |
A |
4: 139,755,049 (GRCm39) |
T440I |
probably benign |
Het |
| Ikzf4 |
T |
A |
10: 128,468,451 (GRCm39) |
H676L |
unknown |
Het |
| Il18r1 |
A |
G |
1: 40,520,140 (GRCm39) |
E177G |
probably benign |
Het |
| Iqch |
A |
G |
9: 63,415,599 (GRCm39) |
Y558H |
possibly damaging |
Het |
| Kif11 |
A |
T |
19: 37,399,072 (GRCm39) |
N752I |
possibly damaging |
Het |
| Kntc1 |
T |
A |
5: 123,925,019 (GRCm39) |
C1111S |
possibly damaging |
Het |
| Krtap9-5 |
A |
G |
11: 99,839,800 (GRCm39) |
K167R |
unknown |
Het |
| Lgalsl2 |
C |
T |
7: 5,362,440 (GRCm39) |
R24C |
probably benign |
Het |
| Lipe |
G |
T |
7: 25,080,036 (GRCm39) |
T704K |
probably benign |
Het |
| Lrrc32 |
A |
T |
7: 98,147,414 (GRCm39) |
I65F |
possibly damaging |
Het |
| Mogs |
C |
T |
6: 83,093,188 (GRCm39) |
H179Y |
probably damaging |
Het |
| Mtnr1b |
A |
T |
9: 15,774,590 (GRCm39) |
Y156* |
probably null |
Het |
| Mtus1 |
T |
C |
8: 41,537,590 (GRCm39) |
H42R |
probably benign |
Het |
| Mx2 |
T |
A |
16: 97,346,918 (GRCm39) |
D128E |
probably benign |
Het |
| Myof |
A |
T |
19: 37,939,939 (GRCm39) |
L829* |
probably null |
Het |
| Naip6 |
T |
C |
13: 100,420,359 (GRCm39) |
K1304E |
probably benign |
Het |
| Neo1 |
A |
C |
9: 58,791,826 (GRCm39) |
S1307R |
probably benign |
Het |
| Nipbl |
A |
T |
15: 8,359,779 (GRCm39) |
D1475E |
probably benign |
Het |
| Nlrp9b |
T |
A |
7: 19,757,875 (GRCm39) |
F371I |
probably damaging |
Het |
| Nrip1 |
A |
T |
16: 76,088,338 (GRCm39) |
M1073K |
probably damaging |
Het |
| Obox6 |
T |
C |
7: 15,567,863 (GRCm39) |
N195D |
probably damaging |
Het |
| Or13a18 |
T |
A |
7: 140,190,091 (GRCm39) |
I4K |
probably benign |
Het |
| Or1j18 |
T |
A |
2: 36,624,650 (GRCm39) |
F106I |
probably benign |
Het |
| Or5ac24 |
A |
T |
16: 59,165,687 (GRCm39) |
C126S |
probably damaging |
Het |
| Or5b99 |
C |
T |
19: 12,976,922 (GRCm39) |
H191Y |
probably benign |
Het |
| Or5p64 |
C |
A |
7: 107,855,045 (GRCm39) |
C100F |
probably damaging |
Het |
| Pax7 |
T |
C |
4: 139,511,880 (GRCm39) |
K232E |
probably benign |
Het |
| Phldb3 |
C |
T |
7: 24,310,689 (GRCm39) |
|
probably benign |
Het |
| Pkd1l1 |
C |
A |
11: 8,915,148 (GRCm39) |
V131L |
|
Het |
| Ppp2r5a |
A |
G |
1: 191,128,532 (GRCm39) |
S28P |
probably benign |
Het |
| Prl8a1 |
A |
G |
13: 27,758,068 (GRCm39) |
S214P |
probably damaging |
Het |
| Prmt2 |
A |
T |
10: 76,056,838 (GRCm39) |
C228* |
probably null |
Het |
| Rabl6 |
A |
G |
2: 25,474,153 (GRCm39) |
S648P |
unknown |
Het |
| Ralgapa1 |
T |
C |
12: 55,759,457 (GRCm39) |
K1022R |
probably damaging |
Het |
| Ralgapb |
T |
A |
2: 158,285,275 (GRCm39) |
D591E |
probably benign |
Het |
| Rprd1a |
A |
G |
18: 24,639,889 (GRCm39) |
|
probably null |
Het |
| Rsu1 |
T |
C |
2: 13,221,686 (GRCm39) |
R165G |
probably damaging |
Het |
| Samd8 |
A |
G |
14: 21,842,491 (GRCm39) |
E334G |
probably benign |
Het |
| Scn9a |
T |
A |
2: 66,364,561 (GRCm39) |
Q804L |
probably damaging |
Het |
| Sez6 |
A |
G |
11: 77,864,711 (GRCm39) |
D557G |
probably benign |
Het |
| Sgsm1 |
A |
T |
5: 113,427,501 (GRCm39) |
|
probably null |
Het |
| Slc17a3 |
T |
A |
13: 24,039,832 (GRCm39) |
M290K |
|
Het |
| Snd1 |
T |
A |
6: 28,531,449 (GRCm39) |
V330E |
probably benign |
Het |
| Tceanc2 |
T |
C |
4: 107,022,852 (GRCm39) |
K45R |
probably damaging |
Het |
| Tg |
A |
T |
15: 66,568,437 (GRCm39) |
I1375F |
probably benign |
Het |
| Tmem116 |
T |
A |
5: 121,633,124 (GRCm39) |
I357K |
|
Het |
| Tmem39a |
G |
T |
16: 38,408,658 (GRCm39) |
R407L |
possibly damaging |
Het |
| Tmem74 |
A |
T |
15: 43,730,761 (GRCm39) |
M94K |
probably benign |
Het |
| Tpp1 |
C |
T |
7: 105,398,751 (GRCm39) |
C226Y |
probably damaging |
Het |
| Trbv21 |
T |
C |
6: 41,179,861 (GRCm39) |
I59T |
not run |
Het |
| Trim11 |
A |
G |
11: 58,869,463 (GRCm39) |
D133G |
probably benign |
Het |
| Uaca |
G |
A |
9: 60,753,282 (GRCm39) |
V76I |
probably damaging |
Het |
| Ugt2a3 |
A |
G |
5: 87,475,539 (GRCm39) |
|
probably null |
Het |
| Vmn2r104 |
G |
T |
17: 20,249,737 (GRCm39) |
H845N |
probably benign |
Het |
| Wdr24 |
T |
C |
17: 26,045,101 (GRCm39) |
Y279H |
probably damaging |
Het |
| Zbtb46 |
A |
G |
2: 181,065,512 (GRCm39) |
S213P |
probably benign |
Het |
| Zdhhc13 |
C |
A |
7: 48,461,103 (GRCm39) |
Y346* |
probably null |
Het |
| Zfp280b |
A |
T |
10: 75,875,075 (GRCm39) |
H318L |
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 |
|
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 |
|
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'- TCATCACGTGCAGGTTGGTG -3'
(R):5'- ATGTCGAACACCTAATGGGAGG -3'
Sequencing Primer
(F):5'- CCTCTTGGGTGGAAATATTATAGAGC -3'
(R):5'- CATCAGAAGTTAATAAGGTTCTGCC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation