Incidental Mutation 'R2116:Prpf8'
| ID |
233179 |
| 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 |
040120-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R2116 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
75377642-75400275 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75378547 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 66
(V66A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099568
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018449]
[ENSMUST00000102510]
[ENSMUST00000131283]
|
| AlphaFold |
Q99PV0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000018449
AA Change: V66A
PolyPhen 2
Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000018449
Gene: ENSMUSG00000020850
AA Change: V66A
| 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 |
possibly damaging
Transcript: ENSMUST00000102510
AA Change: V66A
PolyPhen 2
Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000099568
Gene: ENSMUSG00000020850
AA Change: V66A
| 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: V66A
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000115635
Gene: ENSMUSG00000020850
AA Change: V66A
| 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: 98.6%
- 10x: 97.5%
- 20x: 95.9%
|
| 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: 96 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
A |
G |
15: 94,253,243 (GRCm39) |
C377R |
probably damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,677,132 (GRCm39) |
K1180E |
probably benign |
Het |
| Ankle1 |
A |
G |
8: 71,860,562 (GRCm39) |
T340A |
probably benign |
Het |
| Armc2 |
A |
T |
10: 41,839,663 (GRCm39) |
L434Q |
probably damaging |
Het |
| Ash1l |
C |
T |
3: 88,890,571 (GRCm39) |
L817F |
probably benign |
Het |
| Atm |
C |
T |
9: 53,412,269 (GRCm39) |
E960K |
probably benign |
Het |
| Bend5 |
G |
T |
4: 111,272,436 (GRCm39) |
R22L |
probably benign |
Het |
| Cacng6 |
C |
T |
7: 3,479,020 (GRCm39) |
T133I |
probably damaging |
Het |
| Cep120 |
G |
A |
18: 53,873,208 (GRCm39) |
T41I |
probably damaging |
Het |
| Ciz1 |
T |
C |
2: 32,257,477 (GRCm39) |
L174P |
probably damaging |
Het |
| Cmah |
G |
A |
13: 24,612,880 (GRCm39) |
D26N |
probably benign |
Het |
| Cnot1 |
A |
C |
8: 96,452,781 (GRCm39) |
D2098E |
probably damaging |
Het |
| Cnot10 |
A |
C |
9: 114,455,504 (GRCm39) |
S207R |
probably damaging |
Het |
| Col14a1 |
A |
G |
15: 55,271,160 (GRCm39) |
T638A |
unknown |
Het |
| Coro1a |
T |
C |
7: 126,301,194 (GRCm39) |
E102G |
probably damaging |
Het |
| Ddx27 |
A |
C |
2: 166,869,684 (GRCm39) |
D373A |
probably benign |
Het |
| Defb38 |
A |
T |
8: 19,073,483 (GRCm39) |
Y63* |
probably null |
Het |
| Dhx37 |
A |
G |
5: 125,498,166 (GRCm39) |
V681A |
probably damaging |
Het |
| Dmxl1 |
T |
A |
18: 50,011,884 (GRCm39) |
L1347H |
probably damaging |
Het |
| Dnmt3l |
C |
A |
10: 77,899,130 (GRCm39) |
L110I |
probably damaging |
Het |
| Gcn1 |
A |
T |
5: 115,736,884 (GRCm39) |
M1276L |
probably benign |
Het |
| Gfus |
A |
G |
15: 75,797,991 (GRCm39) |
F223S |
probably damaging |
Het |
| Gm10277 |
TC |
T |
11: 77,676,828 (GRCm39) |
|
probably null |
Het |
| Gm12790 |
G |
A |
4: 101,824,848 (GRCm39) |
T140I |
possibly damaging |
Het |
| Golga3 |
A |
T |
5: 110,335,261 (GRCm39) |
M192L |
probably damaging |
Het |
| H2-T22 |
A |
T |
17: 36,349,949 (GRCm39) |
|
probably null |
Het |
| Hectd2 |
C |
A |
19: 36,591,824 (GRCm39) |
T675K |
probably damaging |
Het |
| Hinfp |
T |
C |
9: 44,210,912 (GRCm39) |
N116S |
probably damaging |
Het |
| Hoatz |
A |
G |
9: 51,012,384 (GRCm39) |
S79P |
possibly damaging |
Het |
| Hs6st3 |
T |
A |
14: 120,106,699 (GRCm39) |
L369Q |
probably damaging |
Het |
| Ift74 |
A |
G |
4: 94,515,496 (GRCm39) |
T138A |
probably benign |
Het |
| Ipo7 |
T |
A |
7: 109,650,325 (GRCm39) |
Y792N |
probably damaging |
Het |
| Jak1 |
A |
T |
4: 101,036,872 (GRCm39) |
I256N |
probably damaging |
Het |
| Kcnd2 |
T |
A |
6: 21,216,431 (GRCm39) |
L45Q |
probably damaging |
Het |
| Klhl3 |
A |
T |
13: 58,166,805 (GRCm39) |
V342E |
probably damaging |
Het |
| Krt28 |
A |
C |
11: 99,255,943 (GRCm39) |
S439A |
probably benign |
Het |
| L3mbtl1 |
T |
A |
2: 162,801,990 (GRCm39) |
|
probably null |
Het |
| Lrch1 |
G |
A |
14: 75,022,971 (GRCm39) |
P634L |
probably damaging |
Het |
| Lrp1 |
C |
T |
10: 127,412,362 (GRCm39) |
W1314* |
probably null |
Het |
| Lrwd1 |
T |
A |
5: 136,159,332 (GRCm39) |
Y431F |
probably damaging |
Het |
| Lyst |
A |
G |
13: 13,810,286 (GRCm39) |
E652G |
probably damaging |
Het |
| Mageb3 |
A |
G |
2: 121,785,033 (GRCm39) |
V223A |
probably damaging |
Het |
| Map1b |
G |
T |
13: 99,567,152 (GRCm39) |
S1856R |
unknown |
Het |
| Mecom |
T |
A |
3: 30,019,607 (GRCm39) |
Q759L |
probably damaging |
Het |
| Mfsd6 |
T |
A |
1: 52,700,134 (GRCm39) |
R671S |
probably benign |
Het |
| Mllt10 |
A |
G |
2: 18,167,380 (GRCm39) |
N435S |
probably benign |
Het |
| Mta2 |
T |
C |
19: 8,920,880 (GRCm39) |
I27T |
probably damaging |
Het |
| Ndufab1 |
A |
G |
7: 121,700,987 (GRCm39) |
L20P |
probably benign |
Het |
| Nfatc2ip |
T |
A |
7: 125,984,280 (GRCm39) |
Y371F |
probably damaging |
Het |
| Nhlrc1 |
A |
C |
13: 47,167,661 (GRCm39) |
S199A |
probably benign |
Het |
| Nipa1 |
G |
T |
7: 55,635,273 (GRCm39) |
N113K |
possibly damaging |
Het |
| Nlgn1 |
T |
A |
3: 26,187,414 (GRCm39) |
N157I |
probably damaging |
Het |
| Nlrp1a |
T |
A |
11: 71,005,326 (GRCm39) |
K630* |
probably null |
Het |
| Nmi |
T |
C |
2: 51,838,719 (GRCm39) |
T272A |
probably benign |
Het |
| Nr1i3 |
T |
A |
1: 171,046,163 (GRCm39) |
L181Q |
probably damaging |
Het |
| Nrxn1 |
A |
T |
17: 91,011,705 (GRCm39) |
I308K |
probably damaging |
Het |
| Nup50l |
A |
T |
6: 96,141,841 (GRCm39) |
V401E |
probably damaging |
Het |
| Or14a256 |
T |
C |
7: 86,265,286 (GRCm39) |
D189G |
probably benign |
Het |
| Or52z15 |
T |
C |
7: 103,332,519 (GRCm39) |
I188T |
probably damaging |
Het |
| Or5al7 |
A |
T |
2: 85,993,073 (GRCm39) |
Y73* |
probably null |
Het |
| Or8g50 |
T |
A |
9: 39,648,600 (GRCm39) |
M163K |
probably damaging |
Het |
| Osgin2 |
G |
A |
4: 16,008,648 (GRCm39) |
T51M |
probably damaging |
Het |
| Pkd1l2 |
T |
A |
8: 117,757,461 (GRCm39) |
T1526S |
possibly damaging |
Het |
| Pkhd1l1 |
G |
T |
15: 44,432,878 (GRCm39) |
A3378S |
probably damaging |
Het |
| Plg |
A |
T |
17: 12,603,364 (GRCm39) |
D90V |
probably damaging |
Het |
| Plppr3 |
A |
T |
10: 79,701,572 (GRCm39) |
D423E |
probably benign |
Het |
| Psg19 |
A |
T |
7: 18,528,180 (GRCm39) |
Y188N |
probably damaging |
Het |
| Ptgs1 |
C |
A |
2: 36,127,708 (GRCm39) |
S89* |
probably null |
Het |
| Ptx3 |
T |
A |
3: 66,132,187 (GRCm39) |
I236N |
probably damaging |
Het |
| Pygm |
A |
G |
19: 6,436,438 (GRCm39) |
N100S |
probably damaging |
Het |
| Reps1 |
A |
G |
10: 18,000,668 (GRCm39) |
E760G |
probably damaging |
Het |
| Rgs7 |
T |
A |
1: 174,918,639 (GRCm39) |
N235I |
probably damaging |
Het |
| Rgsl1 |
T |
A |
1: 153,693,295 (GRCm39) |
M629L |
probably benign |
Het |
| Rrh |
T |
C |
3: 129,604,336 (GRCm39) |
I288M |
probably damaging |
Het |
| Sctr |
A |
T |
1: 119,959,312 (GRCm39) |
D70V |
probably damaging |
Het |
| Sec11c |
A |
T |
18: 65,933,720 (GRCm39) |
T9S |
probably benign |
Het |
| Spty2d1 |
C |
T |
7: 46,645,933 (GRCm39) |
G570D |
probably damaging |
Het |
| Stx1b |
T |
C |
7: 127,410,077 (GRCm39) |
E153G |
probably damaging |
Het |
| Synm |
G |
A |
7: 67,383,343 (GRCm39) |
R1440W |
probably benign |
Het |
| Tcof1 |
T |
C |
18: 60,965,857 (GRCm39) |
E415G |
possibly damaging |
Het |
| Tgfb1i1 |
G |
A |
7: 127,851,977 (GRCm39) |
R353H |
probably damaging |
Het |
| Thbs3 |
T |
C |
3: 89,126,699 (GRCm39) |
F271S |
probably damaging |
Het |
| Tlr5 |
T |
C |
1: 182,803,194 (GRCm39) |
W833R |
probably damaging |
Het |
| Tmem132b |
A |
G |
5: 125,699,615 (GRCm39) |
E92G |
probably damaging |
Het |
| Tmem221 |
T |
C |
8: 72,010,472 (GRCm39) |
Y133C |
probably damaging |
Het |
| Tmem229b-ps |
A |
G |
10: 53,351,552 (GRCm39) |
|
noncoding transcript |
Het |
| Tnxb |
T |
C |
17: 34,891,201 (GRCm39) |
C515R |
probably damaging |
Het |
| Trp53rka |
T |
A |
2: 165,333,415 (GRCm39) |
N158I |
probably damaging |
Het |
| Usp20 |
T |
A |
2: 30,906,317 (GRCm39) |
C562S |
probably damaging |
Het |
| Usp31 |
C |
T |
7: 121,247,919 (GRCm39) |
V1175M |
probably benign |
Het |
| Veph1 |
G |
T |
3: 65,964,610 (GRCm39) |
N806K |
probably benign |
Het |
| Vmn1r223 |
G |
T |
13: 23,433,832 (GRCm39) |
C142F |
probably damaging |
Het |
| Vmn2r80 |
A |
T |
10: 79,030,558 (GRCm39) |
S795C |
probably benign |
Het |
| Wdr41 |
A |
G |
13: 95,151,537 (GRCm39) |
|
probably null |
Het |
| Zfp617 |
A |
T |
8: 72,686,009 (GRCm39) |
H113L |
probably benign |
Het |
| Zfp715 |
T |
A |
7: 42,947,370 (GRCm39) |
R863S |
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 |
|
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'- TCTCTTCACAGCATGCCGAG -3'
(R):5'- TACAGCCTAGAGCCATGTTCC -3'
Sequencing Primer
(F):5'- ACAGCATGCCGAGGGTTG -3'
(R):5'- ATCCCTATCGGTTAAAGGGCAGC -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation