Incidental Mutation 'R7522:Prpf8'
| ID |
582736 |
| 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 |
045594-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R7522 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
75377642-75400275 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75400102 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 2332
(D2332G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018449
(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: D2332G
PolyPhen 2
Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000018449
Gene: ENSMUSG00000020850
AA Change: D2332G
| 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 |
possibly damaging
Transcript: ENSMUST00000102510
AA Change: D2332G
PolyPhen 2
Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000099568
Gene: ENSMUSG00000020850
AA Change: D2332G
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
97% (75/77) |
| 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 |
|---|
| A030014E15Rik |
G |
T |
1: 82,902,949 (GRCm39) |
C82F |
unknown |
Het |
| Adam21 |
G |
C |
12: 81,605,722 (GRCm39) |
T680R |
possibly damaging |
Het |
| Adgrf4 |
A |
C |
17: 42,980,675 (GRCm39) |
Y137D |
probably benign |
Het |
| Ago3 |
T |
C |
4: 126,257,600 (GRCm39) |
K477R |
probably benign |
Het |
| Ahnak |
T |
A |
19: 8,979,686 (GRCm39) |
D323E |
probably benign |
Het |
| Amph |
A |
G |
13: 19,270,715 (GRCm39) |
D108G |
probably damaging |
Het |
| Ankrd10 |
A |
T |
8: 11,682,910 (GRCm39) |
C106S |
probably damaging |
Het |
| Bmp5 |
A |
T |
9: 75,683,384 (GRCm39) |
T4S |
probably benign |
Het |
| Brix1 |
G |
A |
15: 10,476,676 (GRCm39) |
R267C |
probably damaging |
Het |
| Calcrl |
G |
A |
2: 84,203,708 (GRCm39) |
S24L |
probably benign |
Het |
| Ccdc40 |
T |
G |
11: 119,123,047 (GRCm39) |
I213R |
possibly damaging |
Het |
| Cd300lg |
A |
G |
11: 101,945,028 (GRCm39) |
I413V |
probably benign |
Het |
| Cdh3 |
G |
A |
8: 107,268,005 (GRCm39) |
D347N |
probably damaging |
Het |
| Clcn3 |
T |
C |
8: 61,394,446 (GRCm39) |
T55A |
probably benign |
Het |
| Cnga4 |
A |
G |
7: 105,055,195 (GRCm39) |
T260A |
probably damaging |
Het |
| Cpne8 |
G |
T |
15: 90,486,022 (GRCm39) |
P147Q |
probably benign |
Het |
| Cpsf6 |
A |
G |
10: 117,203,734 (GRCm39) |
Y74H |
unknown |
Het |
| Cryl1 |
A |
T |
14: 57,513,428 (GRCm39) |
S264R |
probably benign |
Het |
| Cyp39a1 |
C |
T |
17: 43,978,370 (GRCm39) |
|
probably benign |
Het |
| Cyp4f39 |
T |
C |
17: 32,705,946 (GRCm39) |
S346P |
probably damaging |
Het |
| Cyria |
A |
G |
12: 12,408,057 (GRCm39) |
T28A |
possibly damaging |
Het |
| Ddhd1 |
G |
A |
14: 45,895,104 (GRCm39) |
A122V |
possibly damaging |
Het |
| Dnmt1 |
C |
A |
9: 20,831,498 (GRCm39) |
C662F |
probably damaging |
Het |
| E2f6 |
G |
A |
12: 16,872,125 (GRCm39) |
G190S |
probably benign |
Het |
| Esp34 |
A |
T |
17: 38,870,432 (GRCm39) |
I109F |
possibly damaging |
Het |
| Espl1 |
A |
T |
15: 102,213,486 (GRCm39) |
D604V |
probably damaging |
Het |
| Exo1 |
T |
C |
1: 175,728,870 (GRCm39) |
C645R |
probably benign |
Het |
| Fah |
A |
G |
7: 84,246,282 (GRCm39) |
V189A |
probably benign |
Het |
| Fam184b |
A |
C |
5: 45,688,093 (GRCm39) |
Y939D |
probably damaging |
Het |
| Fchsd2 |
T |
A |
7: 100,908,829 (GRCm39) |
L410* |
probably null |
Het |
| Gak |
A |
T |
5: 108,739,065 (GRCm39) |
I665N |
possibly damaging |
Het |
| Galnt9 |
A |
G |
5: 110,743,705 (GRCm39) |
|
probably null |
Het |
| Gcg |
T |
C |
2: 62,306,103 (GRCm39) |
R165G |
probably benign |
Het |
| Hexd |
T |
C |
11: 121,108,923 (GRCm39) |
V214A |
possibly damaging |
Het |
| Hoxb3 |
A |
T |
11: 96,235,507 (GRCm39) |
S145C |
probably damaging |
Het |
| Il18 |
A |
G |
9: 50,486,640 (GRCm39) |
Y23C |
probably damaging |
Het |
| Itgav |
A |
T |
2: 83,632,373 (GRCm39) |
I954F |
probably benign |
Het |
| Kcna4 |
A |
G |
2: 107,126,600 (GRCm39) |
R445G |
probably damaging |
Het |
| Kyat3 |
T |
A |
3: 142,440,305 (GRCm39) |
L343Q |
probably damaging |
Het |
| Lgals4 |
A |
T |
7: 28,537,117 (GRCm39) |
D139V |
possibly damaging |
Het |
| Lrp3 |
C |
T |
7: 34,903,755 (GRCm39) |
G197D |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,821,668 (GRCm39) |
C1347* |
probably null |
Het |
| Man2a2 |
G |
C |
7: 80,018,613 (GRCm39) |
A82G |
probably benign |
Het |
| Map3k4 |
T |
C |
17: 12,480,219 (GRCm39) |
Q661R |
probably benign |
Het |
| Marcks |
A |
C |
10: 37,012,577 (GRCm39) |
F153V |
unknown |
Het |
| Mocs1 |
T |
C |
17: 49,742,292 (GRCm39) |
|
probably null |
Het |
| Naa60 |
A |
G |
16: 3,719,768 (GRCm39) |
T232A |
probably benign |
Het |
| Oosp1 |
A |
T |
19: 11,666,065 (GRCm39) |
I75N |
probably benign |
Het |
| Opn3 |
A |
G |
1: 175,493,189 (GRCm39) |
V125A |
probably benign |
Het |
| Or2ag18 |
A |
G |
7: 106,404,994 (GRCm39) |
V225A |
probably damaging |
Het |
| Or2f1 |
T |
A |
6: 42,721,568 (GRCm39) |
I199N |
probably damaging |
Het |
| Or4c102 |
A |
G |
2: 88,423,005 (GRCm39) |
T286A |
possibly damaging |
Het |
| Or7g27 |
T |
A |
9: 19,250,294 (GRCm39) |
C179* |
probably null |
Het |
| Palb2 |
T |
C |
7: 121,712,501 (GRCm39) |
T947A |
probably damaging |
Het |
| Pde5a |
C |
T |
3: 122,634,648 (GRCm39) |
R730* |
probably null |
Het |
| Plcl1 |
T |
C |
1: 55,735,523 (GRCm39) |
I288T |
probably benign |
Het |
| Plxnb2 |
A |
G |
15: 89,045,977 (GRCm39) |
I966T |
probably benign |
Het |
| Prkcz |
T |
C |
4: 155,355,742 (GRCm39) |
E400G |
probably damaging |
Het |
| Ptgds |
T |
G |
2: 25,357,920 (GRCm39) |
T154P |
probably benign |
Het |
| Rel |
T |
C |
11: 23,720,676 (GRCm39) |
|
probably null |
Het |
| Rxylt1 |
A |
G |
10: 121,917,344 (GRCm39) |
W390R |
probably damaging |
Het |
| Serpinb1c |
T |
A |
13: 33,066,200 (GRCm39) |
K248N |
probably benign |
Het |
| Shkbp1 |
A |
C |
7: 27,046,583 (GRCm39) |
W394G |
possibly damaging |
Het |
| Slc47a2 |
A |
G |
11: 61,193,076 (GRCm39) |
V559A |
probably benign |
Het |
| Sox6 |
A |
T |
7: 115,400,813 (GRCm39) |
F10I |
probably damaging |
Het |
| Stkld1 |
T |
C |
2: 26,837,259 (GRCm39) |
V303A |
probably benign |
Het |
| Styk1 |
T |
A |
6: 131,289,803 (GRCm39) |
|
probably null |
Het |
| Tet1 |
T |
C |
10: 62,654,762 (GRCm39) |
T1574A |
possibly damaging |
Het |
| Tkt |
A |
T |
14: 30,290,180 (GRCm39) |
I270F |
possibly damaging |
Het |
| Trak1 |
A |
G |
9: 121,271,777 (GRCm39) |
E166G |
probably damaging |
Het |
| Tsc2 |
A |
T |
17: 24,849,939 (GRCm39) |
I58N |
probably damaging |
Het |
| Uhmk1 |
T |
A |
1: 170,042,809 (GRCm39) |
M1L |
probably benign |
Het |
| Usp50 |
T |
C |
2: 126,625,146 (GRCm39) |
Y21C |
probably damaging |
Het |
| Vmn1r180 |
C |
G |
7: 23,652,685 (GRCm39) |
P283A |
probably damaging |
Het |
| Vmn1r83 |
A |
G |
7: 12,055,505 (GRCm39) |
M184T |
possibly damaging |
Het |
| Vmn2r109 |
A |
G |
17: 20,774,665 (GRCm39) |
I230T |
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 |
|
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 |
|
|
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'- TCATCTTGAGGTCTGGCTGC -3'
(R):5'- GCCTATGCCCAGAATTTGACCTC -3'
Sequencing Primer
(F):5'- TCTGGCTGCCTTGGAAAC -3'
(R):5'- TATGCCCAGAATTTGACCTCATAAC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation