Incidental Mutation 'R5089:Prpf8'
| ID |
387650 |
| 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 |
042678-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.959)
|
| Stock # |
R5089 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
75486816-75509449 bp(+) (GRCm38) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 75509228 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114090
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018449]
[ENSMUST00000042808]
[ENSMUST00000042972]
[ENSMUST00000102510]
[ENSMUST00000118243]
[ENSMUST00000123819]
|
| AlphaFold |
Q99PV0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000018449
AA Change: N2316S
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000018449
Gene: ENSMUSG00000020850
AA Change: N2316S
| 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 null
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 null
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: N2316S
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000099568
Gene: ENSMUSG00000020850
AA Change: N2316S
| 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 null
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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156923
|
| Meta Mutation Damage Score |
0.0837 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.0%
- 20x: 91.3%
|
| Validation Efficiency |
98% (65/66) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019N19Rik |
A |
T |
19: 58,786,246 (GRCm38) |
L176H |
probably damaging |
Het |
| 1700030J22Rik |
T |
C |
8: 116,971,933 (GRCm38) |
N145S |
possibly damaging |
Het |
| 4932438A13Rik |
T |
A |
3: 36,987,502 (GRCm38) |
D2676E |
probably benign |
Het |
| A230050P20Rik |
A |
T |
9: 20,868,916 (GRCm38) |
M1L |
probably benign |
Het |
| Acp2 |
T |
C |
2: 91,211,922 (GRCm38) |
|
probably benign |
Het |
| Adgrf2 |
G |
A |
17: 42,710,097 (GRCm38) |
A612V |
probably benign |
Het |
| Cct3 |
T |
G |
3: 88,300,843 (GRCm38) |
M46R |
probably damaging |
Het |
| Cdc123 |
T |
C |
2: 5,805,000 (GRCm38) |
D200G |
probably benign |
Het |
| Cdh9 |
T |
A |
15: 16,778,276 (GRCm38) |
F59Y |
probably damaging |
Het |
| Cluh |
A |
G |
11: 74,660,372 (GRCm38) |
E349G |
probably damaging |
Het |
| Col16a1 |
C |
T |
4: 130,079,195 (GRCm38) |
T643M |
probably benign |
Het |
| Col5a1 |
G |
A |
2: 28,018,602 (GRCm38) |
W67* |
probably null |
Het |
| Crbn |
T |
C |
6: 106,781,718 (GRCm38) |
H381R |
possibly damaging |
Het |
| Crim1 |
A |
G |
17: 78,374,090 (GRCm38) |
D991G |
probably damaging |
Het |
| Dhx16 |
A |
T |
17: 35,884,089 (GRCm38) |
M503L |
probably damaging |
Het |
| Dthd1 |
A |
G |
5: 62,849,905 (GRCm38) |
T650A |
probably benign |
Het |
| Etfa |
T |
A |
9: 55,488,866 (GRCm38) |
K139* |
probably null |
Het |
| Flnc |
T |
C |
6: 29,447,813 (GRCm38) |
I1205T |
probably damaging |
Het |
| Fzd6 |
T |
A |
15: 39,007,480 (GRCm38) |
C32S |
probably damaging |
Het |
| Gm1110 |
T |
A |
9: 26,882,387 (GRCm38) |
D515V |
probably damaging |
Het |
| Gm7676 |
T |
C |
8: 13,896,401 (GRCm38) |
|
noncoding transcript |
Het |
| Gpr157 |
T |
C |
4: 150,102,293 (GRCm38) |
S293P |
possibly damaging |
Het |
| Hc |
T |
C |
2: 35,024,890 (GRCm38) |
D810G |
probably benign |
Het |
| Helz2 |
T |
C |
2: 181,235,149 (GRCm38) |
H1184R |
probably benign |
Het |
| Hoxc5 |
A |
T |
15: 103,014,055 (GRCm38) |
|
probably benign |
Het |
| Iah1 |
C |
T |
12: 21,323,308 (GRCm38) |
S196L |
possibly damaging |
Het |
| Il5 |
C |
T |
11: 53,721,828 (GRCm38) |
T55I |
possibly damaging |
Het |
| Kras |
T |
C |
6: 145,225,143 (GRCm38) |
K169E |
probably benign |
Het |
| Larp1 |
C |
A |
11: 58,047,867 (GRCm38) |
T492K |
possibly damaging |
Het |
| Lgr5 |
T |
C |
10: 115,478,423 (GRCm38) |
D203G |
probably damaging |
Het |
| Lpcat2 |
G |
A |
8: 92,879,443 (GRCm38) |
V241M |
probably damaging |
Het |
| Mpeg1 |
G |
A |
19: 12,462,997 (GRCm38) |
M606I |
probably benign |
Het |
| Ms4a1 |
G |
A |
19: 11,258,812 (GRCm38) |
P4S |
probably benign |
Het |
| Nat10 |
A |
T |
2: 103,757,143 (GRCm38) |
|
probably benign |
Het |
| Ncaph2 |
T |
A |
15: 89,355,945 (GRCm38) |
|
probably null |
Het |
| Nfat5 |
T |
A |
8: 107,351,438 (GRCm38) |
V403D |
probably damaging |
Het |
| Olfr1214 |
A |
G |
2: 88,988,172 (GRCm38) |
F10S |
probably damaging |
Het |
| Olfr1380 |
T |
A |
11: 49,564,413 (GRCm38) |
M164K |
possibly damaging |
Het |
| Pax7 |
T |
C |
4: 139,830,265 (GRCm38) |
H65R |
probably damaging |
Het |
| Phf20 |
C |
A |
2: 156,302,862 (GRCm38) |
H797N |
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,591,887 (GRCm38) |
S4015T |
probably benign |
Het |
| Prdm5 |
C |
T |
6: 65,856,090 (GRCm38) |
H148Y |
probably benign |
Het |
| Rangap1 |
A |
C |
15: 81,710,463 (GRCm38) |
D388E |
probably benign |
Het |
| Sardh |
A |
G |
2: 27,239,613 (GRCm38) |
|
probably null |
Het |
| Serpinb6b |
G |
A |
13: 32,978,150 (GRCm38) |
E192K |
probably benign |
Het |
| Skor1 |
A |
G |
9: 63,145,923 (GRCm38) |
S216P |
probably damaging |
Het |
| Slc51a |
A |
G |
16: 32,477,546 (GRCm38) |
|
probably null |
Het |
| Smarcb1 |
T |
C |
10: 75,915,179 (GRCm38) |
T74A |
probably benign |
Het |
| Spg11 |
A |
T |
2: 122,114,717 (GRCm38) |
Y107* |
probably null |
Het |
| Stk25 |
T |
A |
1: 93,624,608 (GRCm38) |
K350M |
probably benign |
Het |
| Syne1 |
C |
T |
10: 5,405,444 (GRCm38) |
W379* |
probably null |
Het |
| Taco1 |
A |
T |
11: 106,069,611 (GRCm38) |
E126V |
probably benign |
Het |
| Tbc1d12 |
T |
A |
19: 38,916,788 (GRCm38) |
L649* |
probably null |
Het |
| Trpm3 |
G |
A |
19: 22,766,756 (GRCm38) |
G238R |
probably damaging |
Het |
| Yy1 |
C |
A |
12: 108,793,737 (GRCm38) |
Q109K |
probably damaging |
Het |
|
| Other mutations in Prpf8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01375:Prpf8
|
APN |
11 |
75,494,295 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL01376:Prpf8
|
APN |
11 |
75,494,295 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL01393:Prpf8
|
APN |
11 |
75,494,295 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL01395:Prpf8
|
APN |
11 |
75,494,295 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL01554:Prpf8
|
APN |
11 |
75,495,646 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01560:Prpf8
|
APN |
11 |
75,490,406 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
IGL01886:Prpf8
|
APN |
11 |
75,495,744 (GRCm38) |
missense |
probably benign |
0.32 |
|
IGL01946:Prpf8
|
APN |
11 |
75,499,992 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02022:Prpf8
|
APN |
11 |
75,501,834 (GRCm38) |
nonsense |
probably null |
|
|
IGL02077:Prpf8
|
APN |
11 |
75,495,809 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL02141:Prpf8
|
APN |
11 |
75,490,672 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
IGL02455:Prpf8
|
APN |
11 |
75,509,258 (GRCm38) |
missense |
probably benign |
0.32 |
|
cutter
|
UTSW |
11 |
75,495,426 (GRCm38) |
splice site |
probably null |
|
|
BB009:Prpf8
|
UTSW |
11 |
75,492,597 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
BB019:Prpf8
|
UTSW |
11 |
75,492,597 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
PIT4514001:Prpf8
|
UTSW |
11 |
75,496,355 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R0254:Prpf8
|
UTSW |
11 |
75,506,362 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R0270:Prpf8
|
UTSW |
11 |
75,505,249 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0504:Prpf8
|
UTSW |
11 |
75,501,942 (GRCm38) |
splice site |
probably benign |
|
|
R0573:Prpf8
|
UTSW |
11 |
75,490,654 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0613:Prpf8
|
UTSW |
11 |
75,503,444 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0893:Prpf8
|
UTSW |
11 |
75,493,949 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0967:Prpf8
|
UTSW |
11 |
75,494,430 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0975:Prpf8
|
UTSW |
11 |
75,508,674 (GRCm38) |
unclassified |
probably benign |
|
|
R1123:Prpf8
|
UTSW |
11 |
75,495,285 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1183:Prpf8
|
UTSW |
11 |
75,490,330 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R1857:Prpf8
|
UTSW |
11 |
75,495,423 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1901:Prpf8
|
UTSW |
11 |
75,504,744 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1950:Prpf8
|
UTSW |
11 |
75,496,511 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R2116:Prpf8
|
UTSW |
11 |
75,487,721 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R2147:Prpf8
|
UTSW |
11 |
75,490,531 (GRCm38) |
missense |
probably benign |
|
|
R2185:Prpf8
|
UTSW |
11 |
75,487,113 (GRCm38) |
nonsense |
probably null |
|
|
R2271:Prpf8
|
UTSW |
11 |
75,495,363 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2272:Prpf8
|
UTSW |
11 |
75,495,363 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2898:Prpf8
|
UTSW |
11 |
75,496,034 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3744:Prpf8
|
UTSW |
11 |
75,506,721 (GRCm38) |
splice site |
probably null |
|
|
R3893:Prpf8
|
UTSW |
11 |
75,500,257 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R4400:Prpf8
|
UTSW |
11 |
75,490,702 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R4510:Prpf8
|
UTSW |
11 |
75,491,826 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4511:Prpf8
|
UTSW |
11 |
75,491,826 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4784:Prpf8
|
UTSW |
11 |
75,492,505 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5186:Prpf8
|
UTSW |
11 |
75,489,783 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R5215:Prpf8
|
UTSW |
11 |
75,500,204 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5288:Prpf8
|
UTSW |
11 |
75,495,799 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5362:Prpf8
|
UTSW |
11 |
75,506,410 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R5384:Prpf8
|
UTSW |
11 |
75,495,799 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5386:Prpf8
|
UTSW |
11 |
75,495,799 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5423:Prpf8
|
UTSW |
11 |
75,508,958 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5472:Prpf8
|
UTSW |
11 |
75,503,643 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R5539:Prpf8
|
UTSW |
11 |
75,503,638 (GRCm38) |
missense |
probably benign |
0.20 |
|
R5620:Prpf8
|
UTSW |
11 |
75,505,101 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R5669:Prpf8
|
UTSW |
11 |
75,504,738 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5887:Prpf8
|
UTSW |
11 |
75,500,908 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R5948:Prpf8
|
UTSW |
11 |
75,509,189 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R6073:Prpf8
|
UTSW |
11 |
75,494,022 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6250:Prpf8
|
UTSW |
11 |
75,493,508 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R6358:Prpf8
|
UTSW |
11 |
75,491,495 (GRCm38) |
missense |
probably benign |
0.33 |
|
R6629:Prpf8
|
UTSW |
11 |
75,495,426 (GRCm38) |
splice site |
probably null |
|
|
R6804:Prpf8
|
UTSW |
11 |
75,499,809 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R6922:Prpf8
|
UTSW |
11 |
75,490,736 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7035:Prpf8
|
UTSW |
11 |
75,504,828 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R7038:Prpf8
|
UTSW |
11 |
75,496,158 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7089:Prpf8
|
UTSW |
11 |
75,508,548 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7101:Prpf8
|
UTSW |
11 |
75,490,400 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R7114:Prpf8
|
UTSW |
11 |
75,503,355 (GRCm38) |
nonsense |
probably null |
|
|
R7182:Prpf8
|
UTSW |
11 |
75,490,727 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R7290:Prpf8
|
UTSW |
11 |
75,493,957 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R7323:Prpf8
|
UTSW |
11 |
75,491,784 (GRCm38) |
missense |
probably benign |
0.32 |
|
R7485:Prpf8
|
UTSW |
11 |
75,508,912 (GRCm38) |
nonsense |
probably null |
|
|
R7522:Prpf8
|
UTSW |
11 |
75,509,276 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R7546:Prpf8
|
UTSW |
11 |
75,508,374 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7596:Prpf8
|
UTSW |
11 |
75,491,504 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7699:Prpf8
|
UTSW |
11 |
75,500,196 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7731:Prpf8
|
UTSW |
11 |
75,508,906 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7821:Prpf8
|
UTSW |
11 |
75,494,474 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7932:Prpf8
|
UTSW |
11 |
75,492,597 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R8039:Prpf8
|
UTSW |
11 |
75,502,542 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R8067:Prpf8
|
UTSW |
11 |
75,500,150 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8316:Prpf8
|
UTSW |
11 |
75,499,815 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R8560:Prpf8
|
UTSW |
11 |
75,491,774 (GRCm38) |
nonsense |
probably null |
|
|
R8823:Prpf8
|
UTSW |
11 |
75,493,456 (GRCm38) |
missense |
probably benign |
0.05 |
|
R8977:Prpf8
|
UTSW |
11 |
75,496,044 (GRCm38) |
missense |
probably benign |
0.12 |
|
R9116:Prpf8
|
UTSW |
11 |
75,489,763 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R9166:Prpf8
|
UTSW |
11 |
75,496,514 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R9360:Prpf8
|
UTSW |
11 |
75,490,330 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R9453:Prpf8
|
UTSW |
11 |
75,506,386 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R9518:Prpf8
|
UTSW |
11 |
75,503,660 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R9532:Prpf8
|
UTSW |
11 |
75,494,782 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9626:Prpf8
|
UTSW |
11 |
75,494,855 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R9760:Prpf8
|
UTSW |
11 |
75,503,431 (GRCm38) |
missense |
probably benign |
0.20 |
|
X0028:Prpf8
|
UTSW |
11 |
75,506,764 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Z1177:Prpf8
|
UTSW |
11 |
75,503,334 (GRCm38) |
missense |
probably benign |
0.35 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATCTTGAGGTCTGGCTGC -3'
(R):5'- CCTATGCCCAGAATTTGACCTC -3'
Sequencing Primer
(F):5'- TCTGGCTGCCTTGGAAAC -3'
(R):5'- TATGCCCAGAATTTGACCTCATAAC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation