Incidental Mutation 'R5423:Prpf8'
| ID |
426718 |
| 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 |
042989-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.959)
|
| Stock # |
R5423 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
75486816-75509449 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75508958 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 2281
(Y2281C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099568
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018449]
[ENSMUST00000042808]
[ENSMUST00000042972]
[ENSMUST00000102510]
[ENSMUST00000118243]
[ENSMUST00000123819]
|
| AlphaFold |
Q99PV0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018449
AA Change: Y2281C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000018449
Gene: ENSMUSG00000020850
AA Change: Y2281C
| 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 damaging
Transcript: ENSMUST00000102510
AA Change: Y2281C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099568
Gene: ENSMUSG00000020850
AA Change: Y2281C
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156923
|
| Meta Mutation Damage Score |
0.9636 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
98% (60/61) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acyp2 |
C |
T |
11: 30,506,354 (GRCm38) |
E98K |
possibly damaging |
Het |
| Adam22 |
C |
A |
5: 8,090,182 (GRCm38) |
G202W |
probably damaging |
Het |
| Adamts9 |
A |
G |
6: 92,880,697 (GRCm38) |
I289T |
possibly damaging |
Het |
| Ak4 |
T |
G |
4: 101,460,563 (GRCm38) |
I110S |
probably damaging |
Het |
| Arhgap9 |
T |
G |
10: 127,329,549 (GRCm38) |
I609S |
probably damaging |
Het |
| Arid4a |
C |
A |
12: 71,069,860 (GRCm38) |
S242* |
probably null |
Het |
| Ceacam1 |
T |
G |
7: 25,474,526 (GRCm38) |
I235L |
probably benign |
Het |
| Chil3 |
T |
C |
3: 106,148,662 (GRCm38) |
D365G |
probably damaging |
Het |
| Ckap2 |
A |
C |
8: 22,177,196 (GRCm38) |
S216R |
probably benign |
Het |
| Cyp2e1 |
G |
T |
7: 140,770,118 (GRCm38) |
V239L |
probably benign |
Het |
| Dnah7b |
T |
A |
1: 46,358,271 (GRCm38) |
M3954K |
probably benign |
Het |
| Ercc6l2 |
A |
T |
13: 63,872,258 (GRCm38) |
|
probably benign |
Het |
| Etv5 |
T |
C |
16: 22,383,654 (GRCm38) |
D468G |
probably damaging |
Het |
| Fbxo44 |
T |
A |
4: 148,154,229 (GRCm38) |
I213F |
probably benign |
Het |
| Gm5084 |
A |
G |
13: 60,212,542 (GRCm38) |
|
noncoding transcript |
Het |
| Gpr17 |
G |
A |
18: 31,947,641 (GRCm38) |
T123I |
probably damaging |
Het |
| Grin3a |
A |
G |
4: 49,770,376 (GRCm38) |
|
probably benign |
Het |
| H2-D1 |
T |
G |
17: 35,265,907 (GRCm38) |
L248R |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,701,972 (GRCm38) |
I2013V |
probably damaging |
Het |
| Hp1bp3 |
A |
T |
4: 138,225,897 (GRCm38) |
D84V |
probably damaging |
Het |
| Ift140 |
T |
C |
17: 25,033,085 (GRCm38) |
F33S |
probably damaging |
Het |
| Inhbc |
C |
G |
10: 127,357,427 (GRCm38) |
C240S |
probably damaging |
Het |
| Iqgap1 |
T |
A |
7: 80,799,862 (GRCm38) |
E62V |
probably damaging |
Het |
| Kcna4 |
G |
A |
2: 107,295,806 (GRCm38) |
W295* |
probably null |
Het |
| Kdm4a |
C |
T |
4: 118,138,908 (GRCm38) |
A975T |
probably damaging |
Het |
| Lrrtm3 |
T |
C |
10: 64,088,152 (GRCm38) |
D412G |
possibly damaging |
Het |
| Midn |
A |
C |
10: 80,155,193 (GRCm38) |
I346L |
probably benign |
Het |
| Ndufa10 |
C |
T |
1: 92,462,320 (GRCm38) |
D259N |
probably benign |
Het |
| Nefh |
C |
A |
11: 4,940,985 (GRCm38) |
A545S |
possibly damaging |
Het |
| Psip1 |
G |
A |
4: 83,460,130 (GRCm38) |
|
probably benign |
Het |
| Ptpro |
G |
T |
6: 137,442,707 (GRCm38) |
A184S |
probably damaging |
Het |
| Rab37 |
T |
A |
11: 115,157,027 (GRCm38) |
I65K |
possibly damaging |
Het |
| Rasgrp4 |
T |
C |
7: 29,145,136 (GRCm38) |
L247P |
probably damaging |
Het |
| Rnf20 |
T |
C |
4: 49,644,620 (GRCm38) |
V295A |
probably damaging |
Het |
| Serpina3g |
A |
G |
12: 104,237,994 (GRCm38) |
|
probably benign |
Het |
| Shox2 |
A |
G |
3: 66,973,754 (GRCm38) |
|
probably benign |
Het |
| Skint6 |
T |
G |
4: 112,850,740 (GRCm38) |
D977A |
possibly damaging |
Het |
| Slc25a23 |
C |
T |
17: 57,053,597 (GRCm38) |
V248M |
probably damaging |
Het |
| Slco1a7 |
T |
A |
6: 141,744,462 (GRCm38) |
K188N |
probably damaging |
Het |
| Smg1 |
A |
T |
7: 118,146,071 (GRCm38) |
D3008E |
possibly damaging |
Het |
| St18 |
A |
G |
1: 6,802,616 (GRCm38) |
S192G |
possibly damaging |
Het |
| Supt20 |
T |
A |
3: 54,709,325 (GRCm38) |
V306E |
probably damaging |
Het |
| T |
T |
C |
17: 8,441,765 (GRCm38) |
Y403H |
probably damaging |
Het |
| Tars3 |
C |
A |
7: 65,683,819 (GRCm38) |
N588K |
probably benign |
Het |
| Tmem132c |
T |
C |
5: 127,563,843 (GRCm38) |
V1026A |
probably benign |
Het |
| Trpv4 |
T |
C |
5: 114,636,445 (GRCm38) |
T193A |
probably benign |
Het |
| Ubqln4 |
A |
G |
3: 88,563,199 (GRCm38) |
N326S |
probably damaging |
Het |
| Uggt2 |
G |
A |
14: 119,019,486 (GRCm38) |
T1112I |
probably damaging |
Het |
| Vasn |
C |
T |
16: 4,648,420 (GRCm38) |
P77L |
probably benign |
Het |
| Vps9d1 |
A |
C |
8: 123,247,965 (GRCm38) |
|
probably null |
Het |
| Washc4 |
C |
A |
10: 83,579,554 (GRCm38) |
Q803K |
possibly damaging |
Het |
| Zcchc2 |
C |
T |
1: 106,030,700 (GRCm38) |
T967I |
probably damaging |
Het |
| Zfp874a |
G |
A |
13: 67,442,354 (GRCm38) |
L404F |
possibly damaging |
Het |
| Zscan30 |
T |
C |
18: 23,971,716 (GRCm38) |
|
noncoding transcript |
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 |
|
R5089:Prpf8
|
UTSW |
11 |
75,509,228 (GRCm38) |
splice site |
probably null |
|
|
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 |
|
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'- ATCATCACGTGCAGGTTGGTG -3'
(R):5'- TCGAACACCTAATGGGAGGG -3'
Sequencing Primer
(F):5'- CCTCTTGGGTGGAAATATTATAGAGC -3'
(R):5'- CACCTAATGGGAGGGGAAACATC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation