Incidental Mutation 'R2147:Prpf8'
| ID |
233933 |
| 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 |
040150-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R2147 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
75377642-75400275 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75381357 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 231
(I231V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115635
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018449]
[ENSMUST00000102510]
[ENSMUST00000131283]
|
| AlphaFold |
Q99PV0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018449
AA Change: I286V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000018449
Gene: ENSMUSG00000020850
AA Change: I286V
| 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: I286V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099568
Gene: ENSMUSG00000020850
AA Change: I286V
| 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
AA Change: I231V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000115635
Gene: ENSMUSG00000020850
AA Change: I231V
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930523C07Rik |
T |
A |
1: 159,903,003 (GRCm39) |
M91K |
probably benign |
Het |
| Abr |
T |
C |
11: 76,346,474 (GRCm39) |
R437G |
probably damaging |
Het |
| Acaca |
T |
G |
11: 84,167,362 (GRCm39) |
D1045E |
probably benign |
Het |
| Adam23 |
A |
T |
1: 63,573,521 (GRCm39) |
|
probably null |
Het |
| Adam34 |
A |
G |
8: 44,105,538 (GRCm39) |
Y36H |
probably benign |
Het |
| Alg11 |
G |
A |
8: 22,555,309 (GRCm39) |
G108D |
probably damaging |
Het |
| Alox12e |
A |
T |
11: 70,210,771 (GRCm39) |
I316N |
probably damaging |
Het |
| Arid1a |
A |
T |
4: 133,408,677 (GRCm39) |
F1943L |
unknown |
Het |
| Armh4 |
T |
C |
14: 49,989,028 (GRCm39) |
D647G |
probably benign |
Het |
| Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
| BC035044 |
T |
C |
6: 128,867,867 (GRCm39) |
|
probably benign |
Het |
| Bcor |
G |
A |
X: 11,923,862 (GRCm39) |
A578V |
possibly damaging |
Het |
| C1qtnf12 |
A |
G |
4: 156,050,922 (GRCm39) |
N297S |
probably benign |
Het |
| Cadps2 |
G |
T |
6: 23,838,998 (GRCm39) |
|
probably benign |
Het |
| Ccnf |
A |
T |
17: 24,449,288 (GRCm39) |
|
probably null |
Het |
| Cdadc1 |
A |
G |
14: 59,835,202 (GRCm39) |
|
probably null |
Het |
| Cep57l1 |
A |
G |
10: 41,616,895 (GRCm39) |
Y131H |
probably damaging |
Het |
| Cfap251 |
T |
C |
5: 123,394,254 (GRCm39) |
V381A |
probably benign |
Het |
| Cfap44 |
A |
G |
16: 44,272,047 (GRCm39) |
R1267G |
probably benign |
Het |
| Chd3 |
A |
T |
11: 69,239,854 (GRCm39) |
L1658Q |
probably benign |
Het |
| Chl1 |
T |
C |
6: 103,692,362 (GRCm39) |
|
probably null |
Het |
| Chpf2 |
T |
A |
5: 24,797,033 (GRCm39) |
F660I |
probably damaging |
Het |
| Cmas |
T |
A |
6: 142,717,015 (GRCm39) |
D302E |
probably benign |
Het |
| Cpne3 |
T |
A |
4: 19,536,562 (GRCm39) |
M233L |
probably benign |
Het |
| Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
| Dennd3 |
T |
G |
15: 73,395,336 (GRCm39) |
L143R |
probably damaging |
Het |
| Dnah2 |
T |
C |
11: 69,406,587 (GRCm39) |
M552V |
probably benign |
Het |
| Dock2 |
A |
G |
11: 34,179,472 (GRCm39) |
|
probably null |
Het |
| Ergic1 |
A |
G |
17: 26,855,024 (GRCm39) |
|
probably null |
Het |
| Fbxl15 |
A |
T |
19: 46,317,627 (GRCm39) |
D103V |
probably damaging |
Het |
| Gm4781 |
C |
A |
10: 100,232,414 (GRCm39) |
|
noncoding transcript |
Het |
| Hpca |
A |
G |
4: 129,012,278 (GRCm39) |
I86T |
possibly damaging |
Het |
| Katnip |
T |
A |
7: 125,464,492 (GRCm39) |
H1286Q |
probably damaging |
Het |
| Lamb3 |
T |
C |
1: 193,010,212 (GRCm39) |
V275A |
probably benign |
Het |
| Lipe |
G |
T |
7: 25,087,946 (GRCm39) |
A38E |
probably benign |
Het |
| Lrrk1 |
A |
T |
7: 65,935,159 (GRCm39) |
|
probably null |
Het |
| Lrsam1 |
T |
C |
2: 32,835,891 (GRCm39) |
K292R |
probably damaging |
Het |
| Mbtps1 |
A |
T |
8: 120,265,598 (GRCm39) |
H316Q |
probably benign |
Het |
| Mms22l |
T |
A |
4: 24,580,063 (GRCm39) |
Y525* |
probably null |
Het |
| Mrps14 |
T |
C |
1: 160,022,862 (GRCm39) |
L9P |
possibly damaging |
Het |
| Mycbp2 |
G |
A |
14: 103,393,358 (GRCm39) |
H3068Y |
probably damaging |
Het |
| Myo15a |
A |
G |
11: 60,401,055 (GRCm39) |
D2992G |
possibly damaging |
Het |
| N4bp2 |
T |
A |
5: 65,966,543 (GRCm39) |
L1327Q |
probably damaging |
Het |
| Nradd |
A |
T |
9: 110,451,243 (GRCm39) |
F42I |
probably benign |
Het |
| Or5k8 |
T |
A |
16: 58,644,842 (GRCm39) |
I77F |
probably damaging |
Het |
| Pank1 |
T |
C |
19: 34,804,754 (GRCm39) |
H134R |
probably benign |
Het |
| Pcdh7 |
T |
A |
5: 58,286,458 (GRCm39) |
M1178K |
possibly damaging |
Het |
| Pcnx3 |
A |
T |
19: 5,717,633 (GRCm39) |
I1084N |
probably damaging |
Het |
| Pdcd11 |
A |
G |
19: 47,093,191 (GRCm39) |
M490V |
probably benign |
Het |
| Phf2 |
T |
C |
13: 48,958,165 (GRCm39) |
K950E |
unknown |
Het |
| Pitpnc1 |
C |
T |
11: 107,103,344 (GRCm39) |
A252T |
probably damaging |
Het |
| Prickle2 |
A |
G |
6: 92,402,652 (GRCm39) |
L112P |
probably damaging |
Het |
| Scin |
T |
A |
12: 40,130,984 (GRCm39) |
M310L |
probably benign |
Het |
| Serpina3m |
T |
A |
12: 104,355,483 (GRCm39) |
I50N |
probably benign |
Het |
| Skint8 |
C |
G |
4: 111,794,274 (GRCm39) |
N221K |
probably damaging |
Het |
| Slc22a23 |
C |
T |
13: 34,366,990 (GRCm39) |
V673M |
probably benign |
Het |
| Slc24a5 |
A |
G |
2: 124,929,361 (GRCm39) |
D368G |
probably damaging |
Het |
| Slc28a1 |
A |
T |
7: 80,776,015 (GRCm39) |
Q237L |
possibly damaging |
Het |
| Smchd1 |
T |
A |
17: 71,705,583 (GRCm39) |
K1005N |
possibly damaging |
Het |
| Stim2 |
T |
C |
5: 54,262,717 (GRCm39) |
Y320H |
probably damaging |
Het |
| Syne3 |
T |
A |
12: 104,919,357 (GRCm39) |
D512V |
probably damaging |
Het |
| Tada2a |
T |
C |
11: 83,970,455 (GRCm39) |
D432G |
probably damaging |
Het |
| Tcp10a |
T |
C |
17: 7,601,701 (GRCm39) |
S216P |
probably damaging |
Het |
| Tmem178b |
A |
T |
6: 40,184,435 (GRCm39) |
Q111L |
probably damaging |
Het |
| Tmem236 |
A |
G |
2: 14,223,861 (GRCm39) |
I217V |
probably benign |
Het |
| Tmem45b |
A |
G |
9: 31,340,277 (GRCm39) |
V128A |
probably benign |
Het |
| Tnfaip2 |
T |
C |
12: 111,412,456 (GRCm39) |
Y286H |
probably damaging |
Het |
| Tsc2 |
T |
A |
17: 24,840,116 (GRCm39) |
I427L |
possibly damaging |
Het |
| Ttc17 |
T |
A |
2: 94,132,139 (GRCm39) |
N1180I |
possibly damaging |
Het |
| Ubr1 |
T |
G |
2: 120,694,811 (GRCm39) |
D1707A |
probably damaging |
Het |
| Vmn1r11 |
A |
G |
6: 57,114,583 (GRCm39) |
I82M |
probably benign |
Het |
| Vmn2r129 |
T |
C |
4: 156,687,014 (GRCm39) |
|
noncoding transcript |
Het |
| Vps41 |
G |
T |
13: 19,023,904 (GRCm39) |
|
probably null |
Het |
| Wnt5a |
A |
G |
14: 28,235,274 (GRCm39) |
Y86C |
probably damaging |
Het |
| Zfp629 |
T |
C |
7: 127,209,616 (GRCm39) |
H731R |
probably damaging |
Het |
| Zfp712 |
T |
C |
13: 67,189,960 (GRCm39) |
E189G |
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 |
|
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 |
|
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'- GCTCAAAACCTACTTGATGGGG -3'
(R):5'- CAGTACGAATAGGCTGACGG -3'
Sequencing Primer
(F):5'- AGGTACGTTAATGGTTCCACC -3'
(R):5'- TACGAATAGGCTGACGGATGATGATC -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation