Incidental Mutation 'R0254:Prpf8'
| ID |
34585 |
| 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 |
038485-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R0254 (G1)
|
| Quality Score |
204 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
75377642-75400275 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 75397188 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 2007
(I2007N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099568
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018449]
[ENSMUST00000042972]
[ENSMUST00000102510]
|
| AlphaFold |
Q99PV0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000018449
AA Change: I2007N
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000018449
Gene: ENSMUSG00000020850
AA Change: I2007N
| 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 |
possibly damaging
Transcript: ENSMUST00000102510
AA Change: I2007N
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000099568
Gene: ENSMUSG00000020850
AA Change: I2007N
| 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 |
noncoding transcript
Transcript: ENSMUST00000156923
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.7%
|
| Validation Efficiency |
100% (100/100) |
| 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: 97 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
T |
A |
6: 146,853,902 (GRCm39) |
M252L |
probably benign |
Het |
| Abca6 |
A |
G |
11: 110,127,615 (GRCm39) |
V314A |
probably benign |
Het |
| Abcb1b |
A |
T |
5: 8,877,409 (GRCm39) |
E656D |
probably benign |
Het |
| Abhd4 |
T |
C |
14: 54,500,691 (GRCm39) |
I160T |
probably benign |
Het |
| Aco2 |
T |
C |
15: 81,773,557 (GRCm39) |
V32A |
probably damaging |
Het |
| Actl6b |
A |
G |
5: 137,552,406 (GRCm39) |
|
probably benign |
Het |
| Akap13 |
T |
C |
7: 75,386,352 (GRCm39) |
|
probably benign |
Het |
| Alpk3 |
A |
T |
7: 80,726,722 (GRCm39) |
T136S |
probably benign |
Het |
| Ap1g1 |
G |
T |
8: 110,529,749 (GRCm39) |
M56I |
probably benign |
Het |
| Arid2 |
C |
T |
15: 96,268,452 (GRCm39) |
T855I |
probably damaging |
Het |
| Asprv1 |
T |
C |
6: 86,606,077 (GRCm39) |
F308L |
probably damaging |
Het |
| Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
| Atp11b |
T |
A |
3: 35,866,259 (GRCm39) |
M378K |
possibly damaging |
Het |
| Atp1a3 |
T |
C |
7: 24,680,937 (GRCm39) |
|
probably benign |
Het |
| Blk |
C |
A |
14: 63,618,253 (GRCm39) |
A218S |
probably benign |
Het |
| C4b |
T |
A |
17: 34,953,750 (GRCm39) |
T953S |
probably benign |
Het |
| Cdadc1 |
T |
C |
14: 59,813,356 (GRCm39) |
|
probably benign |
Het |
| Cdca2 |
C |
A |
14: 67,914,627 (GRCm39) |
L877F |
probably damaging |
Het |
| Ceacam10 |
G |
T |
7: 24,477,733 (GRCm39) |
V83L |
probably damaging |
Het |
| Cep290 |
A |
T |
10: 100,350,436 (GRCm39) |
I677F |
probably benign |
Het |
| Clip1 |
A |
T |
5: 123,755,395 (GRCm39) |
|
probably benign |
Het |
| Col11a2 |
G |
T |
17: 34,283,777 (GRCm39) |
|
probably benign |
Het |
| Coro1c |
A |
T |
5: 113,983,313 (GRCm39) |
V405D |
probably benign |
Het |
| Crebrf |
A |
G |
17: 26,958,568 (GRCm39) |
T13A |
probably benign |
Het |
| Cspg4 |
A |
G |
9: 56,804,694 (GRCm39) |
E1835G |
probably damaging |
Het |
| Cubn |
A |
T |
2: 13,480,846 (GRCm39) |
|
probably null |
Het |
| Cubn |
T |
C |
2: 13,429,505 (GRCm39) |
N1332S |
probably benign |
Het |
| Cubn |
T |
C |
2: 13,445,325 (GRCm39) |
T1014A |
possibly damaging |
Het |
| Efnb1 |
T |
C |
X: 98,180,634 (GRCm39) |
|
probably benign |
Het |
| Elf2 |
G |
T |
3: 51,215,611 (GRCm39) |
P33Q |
probably damaging |
Het |
| Fap |
C |
T |
2: 62,333,746 (GRCm39) |
G633D |
probably damaging |
Het |
| Gm10288 |
T |
C |
3: 146,544,675 (GRCm39) |
|
noncoding transcript |
Het |
| Got2 |
T |
C |
8: 96,596,166 (GRCm39) |
N318S |
probably benign |
Het |
| Guk1 |
A |
T |
11: 59,076,854 (GRCm39) |
F76L |
probably damaging |
Het |
| H2-K2 |
A |
T |
17: 34,215,639 (GRCm39) |
|
probably benign |
Het |
| Helz2 |
C |
A |
2: 180,874,552 (GRCm39) |
G1981C |
probably damaging |
Het |
| Hinfp |
G |
A |
9: 44,209,536 (GRCm39) |
H250Y |
probably damaging |
Het |
| Hnrnpm |
C |
T |
17: 33,871,242 (GRCm39) |
|
probably null |
Het |
| Hsd11b2 |
T |
A |
8: 106,249,699 (GRCm39) |
V270E |
possibly damaging |
Het |
| Igbp1b |
A |
T |
6: 138,635,201 (GRCm39) |
M81K |
probably damaging |
Het |
| Kif11 |
A |
G |
19: 37,399,957 (GRCm39) |
T815A |
probably benign |
Het |
| Kit |
G |
A |
5: 75,781,581 (GRCm39) |
V337I |
probably benign |
Het |
| Klf11 |
T |
C |
12: 24,703,582 (GRCm39) |
S6P |
probably damaging |
Het |
| Klk13 |
T |
C |
7: 43,373,245 (GRCm39) |
V193A |
probably benign |
Het |
| Krt73 |
T |
A |
15: 101,708,324 (GRCm39) |
|
probably benign |
Het |
| L1td1 |
T |
A |
4: 98,625,419 (GRCm39) |
L538* |
probably null |
Het |
| Macf1 |
A |
G |
4: 123,326,572 (GRCm39) |
L2061P |
probably damaging |
Het |
| Mcm2 |
A |
G |
6: 88,860,998 (GRCm39) |
I900T |
probably damaging |
Het |
| Med16 |
A |
T |
10: 79,736,034 (GRCm39) |
N371K |
possibly damaging |
Het |
| Mepce |
A |
C |
5: 137,783,698 (GRCm39) |
D209E |
possibly damaging |
Het |
| Mrc2 |
C |
G |
11: 105,238,692 (GRCm39) |
P1249R |
probably benign |
Het |
| Mx2 |
A |
T |
16: 97,357,295 (GRCm39) |
I463L |
probably benign |
Het |
| Naaa |
A |
T |
5: 92,412,994 (GRCm39) |
N73K |
probably damaging |
Het |
| Nags |
T |
A |
11: 102,038,771 (GRCm39) |
L404Q |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,133,402 (GRCm39) |
Y3379H |
probably damaging |
Het |
| Nhsl1 |
A |
G |
10: 18,348,733 (GRCm39) |
E120G |
probably damaging |
Het |
| Or11j4 |
T |
C |
14: 50,630,536 (GRCm39) |
S108P |
probably damaging |
Het |
| Or4f53 |
A |
C |
2: 111,087,466 (GRCm39) |
N2T |
probably benign |
Het |
| Or51a42 |
T |
C |
7: 103,708,728 (GRCm39) |
H27R |
probably benign |
Het |
| Or51ah3 |
T |
A |
7: 103,209,829 (GRCm39) |
Y48* |
probably null |
Het |
| Or51f5 |
C |
A |
7: 102,424,076 (GRCm39) |
S115* |
probably null |
Het |
| Pcnt |
A |
G |
10: 76,228,414 (GRCm39) |
F1584L |
probably benign |
Het |
| Pdgfra |
G |
A |
5: 75,328,596 (GRCm39) |
V243I |
probably damaging |
Het |
| Polr2a |
T |
C |
11: 69,634,497 (GRCm39) |
I689V |
possibly damaging |
Het |
| Ppfia4 |
C |
A |
1: 134,251,962 (GRCm39) |
|
probably benign |
Het |
| Prmt8 |
C |
A |
6: 127,688,771 (GRCm39) |
V200L |
probably damaging |
Het |
| Ptpn6 |
T |
C |
6: 124,705,113 (GRCm39) |
E230G |
probably damaging |
Het |
| R3hcc1l |
G |
A |
19: 42,551,587 (GRCm39) |
V195I |
probably damaging |
Het |
| Rb1cc1 |
C |
T |
1: 6,333,071 (GRCm39) |
T1330I |
probably damaging |
Het |
| Reep3 |
G |
T |
10: 66,857,575 (GRCm39) |
T172N |
probably benign |
Het |
| Rfwd3 |
A |
G |
8: 112,020,655 (GRCm39) |
V236A |
probably benign |
Het |
| Rgs22 |
T |
C |
15: 36,104,698 (GRCm39) |
I121V |
probably damaging |
Het |
| Robo1 |
T |
A |
16: 72,461,058 (GRCm39) |
F11I |
probably benign |
Het |
| Rsrc2 |
A |
G |
5: 123,878,910 (GRCm39) |
|
probably benign |
Het |
| Rubcn |
A |
G |
16: 32,668,316 (GRCm39) |
V117A |
probably benign |
Het |
| Scamp1 |
T |
G |
13: 94,347,088 (GRCm39) |
N192T |
probably benign |
Het |
| Scn8a |
T |
A |
15: 100,916,245 (GRCm39) |
I1218N |
probably damaging |
Het |
| Serinc1 |
A |
G |
10: 57,399,304 (GRCm39) |
S200P |
probably damaging |
Het |
| Serpinb9f |
T |
A |
13: 33,518,574 (GRCm39) |
F358Y |
probably damaging |
Het |
| Slc12a5 |
T |
C |
2: 164,839,165 (GRCm39) |
|
probably null |
Het |
| Slc5a4b |
T |
C |
10: 75,906,462 (GRCm39) |
M386V |
possibly damaging |
Het |
| Smarca5 |
A |
G |
8: 81,431,329 (GRCm39) |
F963L |
probably benign |
Het |
| Smchd1 |
A |
T |
17: 71,718,886 (GRCm39) |
F828I |
probably benign |
Het |
| Smr2l |
A |
T |
5: 88,430,230 (GRCm39) |
H42L |
possibly damaging |
Het |
| Stab2 |
G |
T |
10: 86,733,824 (GRCm39) |
Q1333K |
probably benign |
Het |
| Svop |
T |
C |
5: 114,176,600 (GRCm39) |
S349G |
probably benign |
Het |
| Tdrd1 |
G |
A |
19: 56,830,998 (GRCm39) |
S271N |
probably benign |
Het |
| Tec |
G |
A |
5: 72,941,081 (GRCm39) |
P159S |
probably benign |
Het |
| Tec |
T |
C |
5: 72,920,899 (GRCm39) |
|
probably benign |
Het |
| Tfip11 |
G |
A |
5: 112,483,521 (GRCm39) |
M645I |
probably benign |
Het |
| Thap12 |
A |
T |
7: 98,364,488 (GRCm39) |
T219S |
probably benign |
Het |
| Tmem87a |
C |
T |
2: 120,205,988 (GRCm39) |
R329H |
probably damaging |
Het |
| Tpsab1 |
A |
G |
17: 25,562,719 (GRCm39) |
Y227H |
probably damaging |
Het |
| Urah |
G |
A |
7: 140,417,602 (GRCm39) |
V114I |
probably benign |
Het |
| Wnt5a |
G |
A |
14: 28,244,811 (GRCm39) |
E353K |
probably damaging |
Het |
| Zfp1004 |
G |
A |
2: 150,033,784 (GRCm39) |
R35K |
possibly damaging |
Het |
| Zfp101 |
A |
T |
17: 33,599,952 (GRCm39) |
H601Q |
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 |
|
|
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 |
|
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'- TGTGATACATGGCTTCCTCCTCCAG -3'
(R):5'- AGTGATAATCTCGTCACCGTGCTTG -3'
Sequencing Primer
(F):5'- catctgtaacgagatctgactcc -3'
(R):5'- CAGTTCGAGTCTGTGTAGCA -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation