Incidental Mutation 'R0254:Prpf8'
| ID |
34585 |
| 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 |
038485-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.959)
|
| Stock # |
R0254 (G1)
|
| Quality Score |
204 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
75486816-75509449 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 75506362 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 2007
(I2007N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099568
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018449]
[ENSMUST00000042972]
[ENSMUST00000102510]
|
| AlphaFold |
Q99PV0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000018449
AA Change: I2007N
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000018449
Gene: ENSMUSG00000020850
AA Change: I2007N
| 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: 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: I2007N
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000099568
Gene: ENSMUSG00000020850
AA Change: I2007N
| 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 |
noncoding transcript
Transcript: ENSMUST00000156923
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.7%
|
| Validation Efficiency |
100% (100/100) |
| 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: 97 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
T |
A |
6: 146,952,404 (GRCm38) |
M252L |
probably benign |
Het |
| Abca6 |
A |
G |
11: 110,236,789 (GRCm38) |
V314A |
probably benign |
Het |
| Abcb1b |
A |
T |
5: 8,827,409 (GRCm38) |
E656D |
probably benign |
Het |
| Abhd4 |
T |
C |
14: 54,263,234 (GRCm38) |
I160T |
probably benign |
Het |
| Aco2 |
T |
C |
15: 81,889,356 (GRCm38) |
V32A |
probably damaging |
Het |
| Actl6b |
A |
G |
5: 137,554,144 (GRCm38) |
|
probably benign |
Het |
| Akap13 |
T |
C |
7: 75,736,604 (GRCm38) |
|
probably benign |
Het |
| Alpk3 |
A |
T |
7: 81,076,974 (GRCm38) |
T136S |
probably benign |
Het |
| Ap1g1 |
G |
T |
8: 109,803,117 (GRCm38) |
M56I |
probably benign |
Het |
| Arid2 |
C |
T |
15: 96,370,571 (GRCm38) |
T855I |
probably damaging |
Het |
| Asprv1 |
T |
C |
6: 86,629,095 (GRCm38) |
F308L |
probably damaging |
Het |
| Ass1 |
A |
T |
2: 31,514,819 (GRCm38) |
N371Y |
probably damaging |
Het |
| Atp11b |
T |
A |
3: 35,812,110 (GRCm38) |
M378K |
possibly damaging |
Het |
| Atp1a3 |
T |
C |
7: 24,981,512 (GRCm38) |
|
probably benign |
Het |
| Blk |
C |
A |
14: 63,380,804 (GRCm38) |
A218S |
probably benign |
Het |
| C4b |
T |
A |
17: 34,734,776 (GRCm38) |
T953S |
probably benign |
Het |
| Cdadc1 |
T |
C |
14: 59,575,907 (GRCm38) |
|
probably benign |
Het |
| Cdca2 |
C |
A |
14: 67,677,178 (GRCm38) |
L877F |
probably damaging |
Het |
| Ceacam10 |
G |
T |
7: 24,778,308 (GRCm38) |
V83L |
probably damaging |
Het |
| Cep290 |
A |
T |
10: 100,514,574 (GRCm38) |
I677F |
probably benign |
Het |
| Clip1 |
A |
T |
5: 123,617,332 (GRCm38) |
|
probably benign |
Het |
| Col11a2 |
G |
T |
17: 34,064,803 (GRCm38) |
|
probably benign |
Het |
| Coro1c |
A |
T |
5: 113,845,252 (GRCm38) |
V405D |
probably benign |
Het |
| Crebrf |
A |
G |
17: 26,739,594 (GRCm38) |
T13A |
probably benign |
Het |
| Cspg4 |
A |
G |
9: 56,897,410 (GRCm38) |
E1835G |
probably damaging |
Het |
| Cubn |
T |
C |
2: 13,424,694 (GRCm38) |
N1332S |
probably benign |
Het |
| Cubn |
T |
C |
2: 13,440,514 (GRCm38) |
T1014A |
possibly damaging |
Het |
| Cubn |
A |
T |
2: 13,476,035 (GRCm38) |
|
probably null |
Het |
| Efnb1 |
T |
C |
X: 99,137,028 (GRCm38) |
|
probably benign |
Het |
| Elf2 |
G |
T |
3: 51,308,190 (GRCm38) |
P33Q |
probably damaging |
Het |
| Fap |
C |
T |
2: 62,503,402 (GRCm38) |
G633D |
probably damaging |
Het |
| Gm10288 |
T |
C |
3: 146,838,920 (GRCm38) |
|
noncoding transcript |
Het |
| Gm14139 |
G |
A |
2: 150,191,864 (GRCm38) |
R35K |
possibly damaging |
Het |
| Gm7714 |
A |
T |
5: 88,282,371 (GRCm38) |
H42L |
possibly damaging |
Het |
| Got2 |
T |
C |
8: 95,869,538 (GRCm38) |
N318S |
probably benign |
Het |
| Guk1 |
A |
T |
11: 59,186,028 (GRCm38) |
F76L |
probably damaging |
Het |
| H2-K1 |
A |
T |
17: 33,996,665 (GRCm38) |
|
probably benign |
Het |
| Helz2 |
C |
A |
2: 181,232,759 (GRCm38) |
G1981C |
probably damaging |
Het |
| Hinfp |
G |
A |
9: 44,298,239 (GRCm38) |
H250Y |
probably damaging |
Het |
| Hnrnpm |
C |
T |
17: 33,652,268 (GRCm38) |
|
probably null |
Het |
| Hsd11b2 |
T |
A |
8: 105,523,067 (GRCm38) |
V270E |
possibly damaging |
Het |
| Igbp1b |
A |
T |
6: 138,658,203 (GRCm38) |
M81K |
probably damaging |
Het |
| Kif11 |
A |
G |
19: 37,411,509 (GRCm38) |
T815A |
probably benign |
Het |
| Kit |
G |
A |
5: 75,620,921 (GRCm38) |
V337I |
probably benign |
Het |
| Klf11 |
T |
C |
12: 24,653,583 (GRCm38) |
S6P |
probably damaging |
Het |
| Klk13 |
T |
C |
7: 43,723,821 (GRCm38) |
V193A |
probably benign |
Het |
| Krt73 |
T |
A |
15: 101,799,889 (GRCm38) |
|
probably benign |
Het |
| L1td1 |
T |
A |
4: 98,737,182 (GRCm38) |
L538* |
probably null |
Het |
| Macf1 |
A |
G |
4: 123,432,779 (GRCm38) |
L2061P |
probably damaging |
Het |
| Mcm2 |
A |
G |
6: 88,884,016 (GRCm38) |
I900T |
probably damaging |
Het |
| Med16 |
A |
T |
10: 79,900,200 (GRCm38) |
N371K |
possibly damaging |
Het |
| Mepce |
A |
C |
5: 137,785,436 (GRCm38) |
D209E |
possibly damaging |
Het |
| Mrc2 |
C |
G |
11: 105,347,866 (GRCm38) |
P1249R |
probably benign |
Het |
| Mx2 |
A |
T |
16: 97,556,095 (GRCm38) |
I463L |
probably benign |
Het |
| Naaa |
A |
T |
5: 92,265,135 (GRCm38) |
N73K |
probably damaging |
Het |
| Nags |
T |
A |
11: 102,147,945 (GRCm38) |
L404Q |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,243,390 (GRCm38) |
Y3379H |
probably damaging |
Het |
| Nhsl1 |
A |
G |
10: 18,472,985 (GRCm38) |
E120G |
probably damaging |
Het |
| Olfr1276 |
A |
C |
2: 111,257,121 (GRCm38) |
N2T |
probably benign |
Het |
| Olfr561 |
C |
A |
7: 102,774,869 (GRCm38) |
S115* |
probably null |
Het |
| Olfr615 |
T |
A |
7: 103,560,622 (GRCm38) |
Y48* |
probably null |
Het |
| Olfr643 |
T |
C |
7: 104,059,521 (GRCm38) |
H27R |
probably benign |
Het |
| Olfr736 |
T |
C |
14: 50,393,079 (GRCm38) |
S108P |
probably damaging |
Het |
| Pcnt |
A |
G |
10: 76,392,580 (GRCm38) |
F1584L |
probably benign |
Het |
| Pdgfra |
G |
A |
5: 75,167,935 (GRCm38) |
V243I |
probably damaging |
Het |
| Polr2a |
T |
C |
11: 69,743,671 (GRCm38) |
I689V |
possibly damaging |
Het |
| Ppfia4 |
C |
A |
1: 134,324,224 (GRCm38) |
|
probably benign |
Het |
| Prmt8 |
C |
A |
6: 127,711,808 (GRCm38) |
V200L |
probably damaging |
Het |
| Ptpn6 |
T |
C |
6: 124,728,150 (GRCm38) |
E230G |
probably damaging |
Het |
| R3hcc1l |
G |
A |
19: 42,563,148 (GRCm38) |
V195I |
probably damaging |
Het |
| Rb1cc1 |
C |
T |
1: 6,262,847 (GRCm38) |
T1330I |
probably damaging |
Het |
| Reep3 |
G |
T |
10: 67,021,796 (GRCm38) |
T172N |
probably benign |
Het |
| Rfwd3 |
A |
G |
8: 111,294,023 (GRCm38) |
V236A |
probably benign |
Het |
| Rgs22 |
T |
C |
15: 36,104,552 (GRCm38) |
I121V |
probably damaging |
Het |
| Robo1 |
T |
A |
16: 72,664,170 (GRCm38) |
F11I |
probably benign |
Het |
| Rsrc2 |
A |
G |
5: 123,740,847 (GRCm38) |
|
probably benign |
Het |
| Rubcn |
A |
G |
16: 32,847,946 (GRCm38) |
V117A |
probably benign |
Het |
| Scamp1 |
T |
G |
13: 94,210,580 (GRCm38) |
N192T |
probably benign |
Het |
| Scn8a |
T |
A |
15: 101,018,364 (GRCm38) |
I1218N |
probably damaging |
Het |
| Serinc1 |
A |
G |
10: 57,523,208 (GRCm38) |
S200P |
probably damaging |
Het |
| Serpinb9f |
T |
A |
13: 33,334,591 (GRCm38) |
F358Y |
probably damaging |
Het |
| Slc12a5 |
T |
C |
2: 164,997,245 (GRCm38) |
|
probably null |
Het |
| Slc5a4b |
T |
C |
10: 76,070,628 (GRCm38) |
M386V |
possibly damaging |
Het |
| Smarca5 |
A |
G |
8: 80,704,700 (GRCm38) |
F963L |
probably benign |
Het |
| Smchd1 |
A |
T |
17: 71,411,891 (GRCm38) |
F828I |
probably benign |
Het |
| Stab2 |
G |
T |
10: 86,897,960 (GRCm38) |
Q1333K |
probably benign |
Het |
| Svop |
T |
C |
5: 114,038,539 (GRCm38) |
S349G |
probably benign |
Het |
| Tdrd1 |
G |
A |
19: 56,842,566 (GRCm38) |
S271N |
probably benign |
Het |
| Tec |
G |
A |
5: 72,783,738 (GRCm38) |
P159S |
probably benign |
Het |
| Tec |
T |
C |
5: 72,763,556 (GRCm38) |
|
probably benign |
Het |
| Tfip11 |
G |
A |
5: 112,335,655 (GRCm38) |
M645I |
probably benign |
Het |
| Thap12 |
A |
T |
7: 98,715,281 (GRCm38) |
T219S |
probably benign |
Het |
| Tmem87a |
C |
T |
2: 120,375,507 (GRCm38) |
R329H |
probably damaging |
Het |
| Tpsab1 |
A |
G |
17: 25,343,745 (GRCm38) |
Y227H |
probably damaging |
Het |
| Urah |
G |
A |
7: 140,837,689 (GRCm38) |
V114I |
probably benign |
Het |
| Wnt5a |
G |
A |
14: 28,522,854 (GRCm38) |
E353K |
probably damaging |
Het |
| Zfp101 |
A |
T |
17: 33,380,978 (GRCm38) |
H601Q |
possibly 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 |
|
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 |
|
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'- TGTGATACATGGCTTCCTCCTCCAG -3'
(R):5'- AGTGATAATCTCGTCACCGTGCTTG -3'
Sequencing Primer
(F):5'- catctgtaacgagatctgactcc -3'
(R):5'- CAGTTCGAGTCTGTGTAGCA -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation