Incidental Mutation 'R4784:Prpf8'
| ID |
366860 |
| 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 |
041994-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R4784 (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 A
at 75383331 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 521
(D521E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115635
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018449]
[ENSMUST00000102510]
[ENSMUST00000131283]
|
| AlphaFold |
Q99PV0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000018449
AA Change: D576E
PolyPhen 2
Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000018449
Gene: ENSMUSG00000020850
AA Change: D576E
| 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: D576E
PolyPhen 2
Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000099568
Gene: ENSMUSG00000020850
AA Change: D576E
| 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 damaging
Transcript: ENSMUST00000131283
AA Change: D521E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115635
Gene: ENSMUSG00000020850
AA Change: D521E
| 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: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| 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: 106 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adra1a |
T |
A |
14: 66,875,273 (GRCm39) |
S83T |
probably damaging |
Het |
| Aff1 |
T |
A |
5: 103,994,905 (GRCm39) |
Y1034* |
probably null |
Het |
| Ago3 |
A |
T |
4: 126,262,296 (GRCm39) |
M418K |
probably benign |
Het |
| Alpk1 |
G |
T |
3: 127,481,241 (GRCm39) |
N175K |
possibly damaging |
Het |
| Als2 |
A |
G |
1: 59,254,472 (GRCm39) |
V295A |
probably benign |
Het |
| Arhgap32 |
A |
G |
9: 32,040,949 (GRCm39) |
D67G |
probably damaging |
Het |
| Arhgap32 |
T |
C |
9: 32,172,076 (GRCm39) |
C1619R |
probably damaging |
Het |
| Asns |
T |
G |
6: 7,678,029 (GRCm39) |
K350Q |
probably benign |
Het |
| Atp8b5 |
A |
T |
4: 43,356,980 (GRCm39) |
D576V |
probably damaging |
Het |
| Atrnl1 |
A |
G |
19: 57,617,590 (GRCm39) |
I122V |
probably damaging |
Het |
| Baz1b |
T |
G |
5: 135,246,267 (GRCm39) |
L572R |
possibly damaging |
Het |
| C4b |
T |
C |
17: 34,952,380 (GRCm39) |
T1220A |
probably benign |
Het |
| Carmil3 |
T |
C |
14: 55,738,778 (GRCm39) |
|
probably null |
Het |
| Ccndbp1 |
A |
T |
2: 120,839,003 (GRCm39) |
T5S |
probably benign |
Het |
| Chaf1b |
T |
C |
16: 93,681,430 (GRCm39) |
V16A |
probably damaging |
Het |
| Chd8 |
C |
A |
14: 52,442,825 (GRCm39) |
C575F |
probably damaging |
Het |
| Chrna10 |
G |
A |
7: 101,762,426 (GRCm39) |
P255S |
possibly damaging |
Het |
| Clip1 |
T |
C |
5: 123,717,356 (GRCm39) |
D1387G |
probably damaging |
Het |
| Col12a1 |
C |
A |
9: 79,585,776 (GRCm39) |
V1228F |
possibly damaging |
Het |
| Cxcr5 |
T |
C |
9: 44,424,638 (GRCm39) |
T340A |
probably benign |
Het |
| Cyp2e1 |
G |
A |
7: 140,343,821 (GRCm39) |
V20I |
possibly damaging |
Het |
| Dchs1 |
A |
G |
7: 105,415,133 (GRCm39) |
Y684H |
probably damaging |
Het |
| Dcun1d3 |
T |
C |
7: 119,456,887 (GRCm39) |
E275G |
probably damaging |
Het |
| Dgcr8 |
G |
A |
16: 18,076,174 (GRCm39) |
R4* |
probably null |
Het |
| Dglucy |
A |
T |
12: 100,804,923 (GRCm39) |
D168V |
probably damaging |
Het |
| Dnah1 |
T |
A |
14: 30,985,436 (GRCm39) |
K3818N |
probably damaging |
Het |
| Dnajc17 |
T |
C |
2: 119,009,909 (GRCm39) |
D239G |
probably benign |
Het |
| Dok2 |
C |
T |
14: 71,015,314 (GRCm39) |
P347L |
probably benign |
Het |
| Elavl2 |
T |
C |
4: 91,142,379 (GRCm39) |
R265G |
probably null |
Het |
| Elf1 |
T |
A |
14: 79,818,183 (GRCm39) |
N567K |
probably benign |
Het |
| Epha8 |
A |
T |
4: 136,660,633 (GRCm39) |
I695N |
probably damaging |
Het |
| Fam178b |
C |
A |
1: 36,671,496 (GRCm39) |
|
probably null |
Het |
| Fam76a |
A |
T |
4: 132,629,428 (GRCm39) |
|
probably null |
Het |
| Fam76a |
A |
G |
4: 132,643,501 (GRCm39) |
Y78H |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,166,839 (GRCm39) |
C2026S |
probably damaging |
Het |
| Fbxo4 |
T |
C |
15: 3,998,523 (GRCm39) |
T312A |
probably benign |
Het |
| Fscn2 |
T |
C |
11: 120,258,813 (GRCm39) |
F453L |
possibly damaging |
Het |
| Gabrb2 |
T |
C |
11: 42,488,469 (GRCm39) |
C312R |
probably damaging |
Het |
| Gba2 |
A |
C |
4: 43,568,315 (GRCm39) |
L684R |
probably damaging |
Het |
| Golga2 |
T |
A |
2: 32,187,168 (GRCm39) |
N89K |
probably damaging |
Het |
| Gpx6 |
C |
T |
13: 21,496,434 (GRCm39) |
Q3* |
probably null |
Het |
| Grin1 |
T |
A |
2: 25,182,393 (GRCm39) |
H956L |
possibly damaging |
Het |
| H2-Q7 |
T |
G |
17: 35,658,914 (GRCm39) |
C122G |
probably damaging |
Het |
| Hcar2 |
C |
G |
5: 124,002,513 (GRCm39) |
G330A |
probably benign |
Het |
| Hes3 |
A |
G |
4: 152,372,289 (GRCm39) |
S37P |
probably damaging |
Het |
| Hs3st3b1 |
T |
C |
11: 63,780,086 (GRCm39) |
H347R |
probably benign |
Het |
| Il1rl1 |
A |
G |
1: 40,489,348 (GRCm39) |
R367G |
probably damaging |
Het |
| Kcnc1 |
G |
T |
7: 46,086,711 (GRCm39) |
S570I |
probably benign |
Het |
| Kctd3 |
T |
C |
1: 188,706,665 (GRCm39) |
I523M |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Kntc1 |
T |
G |
5: 123,954,825 (GRCm39) |
M2081R |
possibly damaging |
Het |
| Krt87 |
A |
G |
15: 101,385,837 (GRCm39) |
S253P |
probably damaging |
Het |
| Ktn1 |
T |
A |
14: 47,930,953 (GRCm39) |
|
probably null |
Het |
| Lair1 |
T |
A |
7: 4,012,731 (GRCm39) |
M251L |
probably benign |
Het |
| Lama3 |
A |
T |
18: 12,582,601 (GRCm39) |
H631L |
probably benign |
Het |
| Lamc1 |
T |
C |
1: 153,107,486 (GRCm39) |
N1231S |
probably damaging |
Het |
| Lin54 |
A |
G |
5: 100,607,597 (GRCm39) |
I250T |
probably damaging |
Het |
| Lrit1 |
C |
T |
14: 36,784,193 (GRCm39) |
T507M |
possibly damaging |
Het |
| Lrp11 |
A |
G |
10: 7,479,965 (GRCm39) |
H345R |
possibly damaging |
Het |
| Lrp6 |
A |
C |
6: 134,456,502 (GRCm39) |
S921A |
probably benign |
Het |
| Lrrc27 |
A |
G |
7: 138,822,614 (GRCm39) |
T502A |
probably benign |
Het |
| Marf1 |
A |
C |
16: 13,970,321 (GRCm39) |
S133A |
probably benign |
Het |
| Mga |
C |
T |
2: 119,733,538 (GRCm39) |
P129S |
probably damaging |
Het |
| Mgat4e |
T |
C |
1: 134,469,063 (GRCm39) |
N327S |
probably damaging |
Het |
| Mlh1 |
A |
G |
9: 111,068,866 (GRCm39) |
Y499H |
probably benign |
Het |
| Mrgpra1 |
A |
G |
7: 46,985,218 (GRCm39) |
S154P |
probably damaging |
Het |
| Myo1h |
A |
G |
5: 114,498,660 (GRCm39) |
I919V |
possibly damaging |
Het |
| Naalad2 |
T |
C |
9: 18,262,214 (GRCm39) |
R442G |
probably damaging |
Het |
| Nat8f4 |
T |
C |
6: 85,878,481 (GRCm39) |
H14R |
probably benign |
Het |
| Nav1 |
A |
G |
1: 135,386,477 (GRCm39) |
S1184P |
probably damaging |
Het |
| Nckap1 |
T |
A |
2: 80,337,278 (GRCm39) |
N986I |
probably benign |
Het |
| Ndufaf2 |
C |
G |
13: 108,189,314 (GRCm39) |
A145P |
probably damaging |
Het |
| Nop9 |
AGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGA |
14: 55,983,859 (GRCm39) |
|
probably benign |
Het |
| Nphp4 |
G |
A |
4: 152,639,003 (GRCm39) |
R878K |
probably benign |
Het |
| Nutm1 |
G |
A |
2: 112,079,281 (GRCm39) |
A878V |
probably benign |
Het |
| Or4f56 |
A |
T |
2: 111,703,395 (GRCm39) |
D268E |
possibly damaging |
Het |
| Or52e8b |
A |
C |
7: 104,673,737 (GRCm39) |
I150S |
probably damaging |
Het |
| Or5k1b |
G |
T |
16: 58,580,911 (GRCm39) |
F209L |
probably damaging |
Het |
| Orc6 |
T |
A |
8: 86,029,579 (GRCm39) |
I41K |
probably damaging |
Het |
| Pikfyve |
A |
G |
1: 65,307,005 (GRCm39) |
T1798A |
probably benign |
Het |
| Ppp1r14a |
A |
T |
7: 28,991,486 (GRCm39) |
E98V |
possibly damaging |
Het |
| Pudp |
A |
G |
18: 50,701,136 (GRCm39) |
V199A |
probably damaging |
Het |
| Rab3c |
T |
C |
13: 110,198,434 (GRCm39) |
E198G |
probably benign |
Het |
| Ramac |
T |
A |
7: 81,418,163 (GRCm39) |
W73R |
probably damaging |
Het |
| Rbl2 |
A |
G |
8: 91,812,196 (GRCm39) |
Y255C |
probably damaging |
Het |
| Rbm12 |
T |
C |
2: 155,938,484 (GRCm39) |
D596G |
possibly damaging |
Het |
| Sipa1l3 |
A |
G |
7: 29,077,066 (GRCm39) |
V902A |
probably damaging |
Het |
| Slc37a3 |
T |
G |
6: 39,314,157 (GRCm39) |
Q485P |
probably benign |
Het |
| Slc44a3 |
T |
C |
3: 121,320,723 (GRCm39) |
T93A |
possibly damaging |
Het |
| Slc66a1 |
G |
T |
4: 139,027,312 (GRCm39) |
H343Q |
probably benign |
Het |
| Sun3 |
G |
A |
11: 8,988,266 (GRCm39) |
L19F |
probably benign |
Het |
| Tas2r125 |
A |
G |
6: 132,886,866 (GRCm39) |
I85V |
probably benign |
Het |
| Tenm4 |
A |
C |
7: 96,423,253 (GRCm39) |
K683Q |
probably damaging |
Het |
| Tmprss11d |
C |
T |
5: 86,454,140 (GRCm39) |
V222M |
probably damaging |
Het |
| Tnip1 |
A |
C |
11: 54,806,365 (GRCm39) |
S570A |
possibly damaging |
Het |
| Top1mt |
G |
A |
15: 75,529,552 (GRCm39) |
P554S |
probably damaging |
Het |
| Top1mt |
A |
G |
15: 75,547,880 (GRCm39) |
F69L |
possibly damaging |
Het |
| Ttc7 |
A |
G |
17: 87,648,325 (GRCm39) |
K508R |
probably benign |
Het |
| Ttll4 |
A |
T |
1: 74,718,166 (GRCm39) |
T6S |
possibly damaging |
Het |
| Xpo5 |
T |
C |
17: 46,533,643 (GRCm39) |
Y500H |
possibly damaging |
Het |
| Xpot |
C |
T |
10: 121,450,968 (GRCm39) |
|
probably null |
Het |
| Zbbx |
T |
C |
3: 74,992,348 (GRCm39) |
I268V |
probably benign |
Het |
| Zbtb40 |
G |
A |
4: 136,734,408 (GRCm39) |
P360S |
probably damaging |
Het |
| Zfp324 |
T |
C |
7: 12,705,233 (GRCm39) |
L474P |
probably damaging |
Het |
| Zfp398 |
A |
G |
6: 47,817,186 (GRCm39) |
T9A |
probably benign |
Het |
| Zfp692 |
A |
C |
11: 58,200,997 (GRCm39) |
S293R |
probably null |
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 |
|
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'- TCGGGAAGTACTGCGTTTAACC -3'
(R):5'- CCTGGGGAAAAGCTCTAACTGC -3'
Sequencing Primer
(F):5'- ACTGCGTTTAACCAAGCTGG -3'
(R):5'- GCTCTAACTGCAAAGAAAAAGCAAG -3'
|
| Posted On |
2015-12-29 |
Incidental Mutation