Incidental Mutation 'R5215:Prpf8'
| ID |
403434 |
| 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 |
042788-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R5215 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
75377642-75400275 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 75391030 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 1360
(E1360K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099568
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018449]
[ENSMUST00000102510]
[ENSMUST00000131283]
|
| AlphaFold |
Q99PV0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018449
AA Change: E1360K
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000018449
Gene: ENSMUSG00000020850
AA Change: E1360K
| 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: ENSMUST00000102510
AA Change: E1360K
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000099568
Gene: ENSMUSG00000020850
AA Change: E1360K
| 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: ENSMUST00000131283
|
| SMART Domains |
Protein: ENSMUSP00000115635
Gene: ENSMUSG00000020850
| 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 |
|
| Meta Mutation Damage Score |
0.1068 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (79/79) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alas1 |
C |
A |
9: 106,120,574 (GRCm39) |
A73S |
probably benign |
Het |
| Aldoart2 |
G |
A |
12: 55,612,204 (GRCm39) |
R43Q |
probably benign |
Het |
| Ano4 |
T |
C |
10: 89,153,165 (GRCm39) |
H49R |
possibly damaging |
Het |
| Atic |
T |
C |
1: 71,603,666 (GRCm39) |
S161P |
probably damaging |
Het |
| Atp6v1c2 |
T |
C |
12: 17,341,659 (GRCm39) |
E244G |
probably benign |
Het |
| Cd164l2 |
C |
A |
4: 132,948,789 (GRCm39) |
L42I |
unknown |
Het |
| Cdc42ep2 |
T |
C |
19: 5,968,238 (GRCm39) |
R156G |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,614,647 (GRCm39) |
R205H |
probably damaging |
Het |
| Cdk5 |
T |
A |
5: 24,624,459 (GRCm39) |
N265I |
probably benign |
Het |
| Cfap69 |
G |
T |
5: 5,639,133 (GRCm39) |
N262K |
possibly damaging |
Het |
| Chd6 |
C |
T |
2: 160,791,873 (GRCm39) |
V2495M |
probably damaging |
Het |
| Cps1 |
T |
A |
1: 67,205,539 (GRCm39) |
F521I |
possibly damaging |
Het |
| Crb2 |
A |
G |
2: 37,683,765 (GRCm39) |
E1089G |
probably benign |
Het |
| Decr1 |
T |
C |
4: 15,929,795 (GRCm39) |
D166G |
probably damaging |
Het |
| Dhodh |
G |
A |
8: 110,332,975 (GRCm39) |
|
probably benign |
Het |
| Dnaaf5 |
G |
A |
5: 139,147,632 (GRCm39) |
V399I |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 118,121,096 (GRCm39) |
T526A |
probably benign |
Het |
| Drosha |
T |
C |
15: 12,885,219 (GRCm39) |
|
probably benign |
Het |
| Elfn2 |
T |
A |
15: 78,558,401 (GRCm39) |
I49F |
probably damaging |
Het |
| Gabra1 |
T |
C |
11: 42,045,655 (GRCm39) |
T152A |
probably damaging |
Het |
| Gigyf2 |
C |
A |
1: 87,292,988 (GRCm39) |
T85K |
probably damaging |
Het |
| Gimap8 |
A |
T |
6: 48,628,017 (GRCm39) |
Y258F |
possibly damaging |
Het |
| Glmn |
A |
G |
5: 107,709,752 (GRCm39) |
C351R |
probably benign |
Het |
| Gm10032 |
T |
C |
14: 67,029,998 (GRCm39) |
|
noncoding transcript |
Het |
| Gorasp2 |
G |
A |
2: 70,519,598 (GRCm39) |
A328T |
probably benign |
Het |
| Grin1 |
A |
T |
2: 25,193,919 (GRCm39) |
H392Q |
probably benign |
Het |
| Gzmn |
A |
G |
14: 56,405,319 (GRCm39) |
V55A |
probably damaging |
Het |
| Herc4 |
T |
A |
10: 63,124,876 (GRCm39) |
S497T |
probably benign |
Het |
| Hrc |
A |
T |
7: 44,985,515 (GRCm39) |
D222V |
probably damaging |
Het |
| Iars2 |
T |
C |
1: 185,026,966 (GRCm39) |
H761R |
probably damaging |
Het |
| Jmjd1c |
T |
A |
10: 67,076,480 (GRCm39) |
D2101E |
possibly damaging |
Het |
| Kcng1 |
C |
T |
2: 168,105,053 (GRCm39) |
M264I |
probably benign |
Het |
| Klra14-ps |
C |
A |
6: 130,134,646 (GRCm39) |
|
noncoding transcript |
Het |
| Krtap5-3 |
T |
A |
7: 141,755,974 (GRCm39) |
C270* |
probably null |
Het |
| Lama3 |
A |
G |
18: 12,710,957 (GRCm39) |
H3164R |
probably damaging |
Het |
| Lcor |
T |
C |
19: 41,574,371 (GRCm39) |
I1042T |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,741,418 (GRCm39) |
M3840T |
possibly damaging |
Het |
| Mtor |
A |
T |
4: 148,538,440 (GRCm39) |
H166L |
probably benign |
Het |
| Mx1 |
T |
C |
16: 97,249,560 (GRCm39) |
N556D |
possibly damaging |
Het |
| Oca2 |
A |
T |
7: 55,945,246 (GRCm39) |
R285* |
probably null |
Het |
| Or12d13 |
T |
A |
17: 37,647,704 (GRCm39) |
I140F |
probably benign |
Het |
| Or2at1 |
A |
G |
7: 99,416,717 (GRCm39) |
E116G |
probably damaging |
Het |
| Or4k39 |
T |
C |
2: 111,239,631 (GRCm39) |
|
noncoding transcript |
Het |
| Or56a3b |
G |
A |
7: 104,775,771 (GRCm39) |
H246Y |
probably damaging |
Het |
| Or8g33 |
A |
T |
9: 39,337,919 (GRCm39) |
Y149* |
probably null |
Het |
| Pan3 |
A |
G |
5: 147,391,915 (GRCm39) |
|
probably null |
Het |
| Pard3 |
G |
A |
8: 128,104,745 (GRCm39) |
V496M |
probably damaging |
Het |
| Pdcd2l |
A |
T |
7: 33,892,314 (GRCm39) |
V185D |
possibly damaging |
Het |
| Pgghg |
T |
C |
7: 140,526,477 (GRCm39) |
V623A |
possibly damaging |
Het |
| Pigu |
C |
A |
2: 155,177,249 (GRCm39) |
|
probably benign |
Het |
| Pkmyt1 |
G |
A |
17: 23,951,566 (GRCm39) |
R40Q |
probably benign |
Het |
| Prag1 |
G |
A |
8: 36,567,043 (GRCm39) |
A65T |
probably benign |
Het |
| Prkdc |
C |
A |
16: 15,589,985 (GRCm39) |
T2616N |
possibly damaging |
Het |
| Ptprt |
C |
T |
2: 162,120,084 (GRCm39) |
V128M |
probably damaging |
Het |
| Rp1l1 |
C |
T |
14: 64,267,462 (GRCm39) |
S1016L |
probably benign |
Het |
| Rprd1a |
G |
T |
18: 24,621,257 (GRCm39) |
D307E |
probably damaging |
Het |
| Slc11a1 |
A |
T |
1: 74,422,936 (GRCm39) |
|
probably benign |
Het |
| Slc22a16 |
T |
A |
10: 40,457,386 (GRCm39) |
M209K |
probably damaging |
Het |
| Slf2 |
T |
G |
19: 44,936,476 (GRCm39) |
L707R |
probably damaging |
Het |
| Son |
T |
A |
16: 91,453,563 (GRCm39) |
M770K |
probably damaging |
Het |
| Taf6l |
T |
C |
19: 8,755,417 (GRCm39) |
|
probably benign |
Het |
| Tbc1d2 |
C |
A |
4: 46,614,006 (GRCm39) |
V692L |
probably benign |
Het |
| Tnpo3 |
C |
T |
6: 29,582,152 (GRCm39) |
|
probably benign |
Het |
| Txndc16 |
A |
T |
14: 45,448,597 (GRCm39) |
|
probably benign |
Het |
| Ubr1 |
T |
C |
2: 120,734,525 (GRCm39) |
K1125R |
probably benign |
Het |
| Vmn2r9 |
A |
G |
5: 108,994,351 (GRCm39) |
S433P |
probably benign |
Het |
| Zc3h12a |
A |
G |
4: 125,020,706 (GRCm39) |
S46P |
probably benign |
Het |
| Zwilch |
T |
G |
9: 64,054,156 (GRCm39) |
I490L |
probably benign |
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 |
|
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'- TATTCTACACCCCTAAGGAGCTG -3'
(R):5'- TGTGACCCAAAAGCTGTGTG -3'
Sequencing Primer
(F):5'- GATGGGCCATGTGCTTATCCC -3'
(R):5'- CCCAAAAGCTGTGTGATTGGC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation