Incidental Mutation 'R8977:Prpf8'
| ID |
683518 |
| 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 |
068715-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R8977 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
75377642-75400275 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75386870 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 1105
(E1105G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018449
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018449]
[ENSMUST00000102510]
[ENSMUST00000131283]
|
| AlphaFold |
Q99PV0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018449
AA Change: E1105G
PolyPhen 2
Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000018449
Gene: ENSMUSG00000020850
AA Change: E1105G
| 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: ENSMUST00000102510
AA Change: E1105G
PolyPhen 2
Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000099568
Gene: ENSMUSG00000020850
AA Change: E1105G
| 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
|
| SMART Domains |
Protein: ENSMUSP00000115635
Gene: ENSMUSG00000020850
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930438A08Rik |
A |
G |
11: 58,184,710 (GRCm39) |
E476G |
unknown |
Het |
| Aars1 |
G |
A |
8: 111,766,849 (GRCm39) |
R77Q |
probably damaging |
Het |
| Abcc10 |
C |
A |
17: 46,624,593 (GRCm39) |
V795L |
probably benign |
Het |
| Adam30 |
A |
G |
3: 98,069,378 (GRCm39) |
K276E |
probably damaging |
Het |
| Adam6b |
A |
T |
12: 113,453,996 (GRCm39) |
N271I |
probably benign |
Het |
| Adgrl2 |
T |
C |
3: 148,660,223 (GRCm39) |
I17V |
probably null |
Het |
| Anapc1 |
C |
A |
2: 128,483,322 (GRCm39) |
G1258C |
probably damaging |
Het |
| Ank2 |
G |
T |
3: 126,738,575 (GRCm39) |
H2436Q |
unknown |
Het |
| Ankrd13a |
A |
T |
5: 114,933,806 (GRCm39) |
K267* |
probably null |
Het |
| Apob |
T |
C |
12: 8,065,990 (GRCm39) |
Y4320H |
probably damaging |
Het |
| Atp2b2 |
T |
C |
6: 113,750,325 (GRCm39) |
D678G |
probably damaging |
Het |
| Bhlhe41 |
C |
A |
6: 145,809,096 (GRCm39) |
V239F |
possibly damaging |
Het |
| Cbfa2t2 |
T |
G |
2: 154,342,410 (GRCm39) |
L42R |
probably benign |
Het |
| Ccer2 |
G |
A |
7: 28,456,113 (GRCm39) |
V52M |
probably damaging |
Het |
| Ccnj |
T |
C |
19: 40,833,383 (GRCm39) |
F187S |
probably damaging |
Het |
| Cd109 |
G |
A |
9: 78,614,810 (GRCm39) |
V1286I |
probably benign |
Het |
| Cfap210 |
T |
C |
2: 69,617,643 (GRCm39) |
H46R |
possibly damaging |
Het |
| Cfap46 |
G |
T |
7: 139,259,849 (GRCm39) |
T148N |
probably benign |
Het |
| Chmp7 |
A |
G |
14: 69,958,684 (GRCm39) |
V210A |
probably benign |
Het |
| Cuzd1 |
A |
G |
7: 130,923,754 (GRCm39) |
F8S |
probably benign |
Het |
| Dnmbp |
A |
T |
19: 43,840,751 (GRCm39) |
D549E |
probably damaging |
Het |
| Dpp4 |
A |
G |
2: 62,204,747 (GRCm39) |
L240P |
probably benign |
Het |
| Dst |
A |
T |
1: 34,286,864 (GRCm39) |
R3398S |
probably damaging |
Het |
| Eml6 |
A |
G |
11: 29,734,182 (GRCm39) |
I1186T |
possibly damaging |
Het |
| Extl1 |
T |
C |
4: 134,086,435 (GRCm39) |
E540G |
possibly damaging |
Het |
| Gdpd5 |
A |
G |
7: 99,103,057 (GRCm39) |
I339V |
probably benign |
Het |
| Ggcx |
T |
C |
6: 72,406,265 (GRCm39) |
|
probably null |
Het |
| Gm9195 |
A |
G |
14: 72,691,338 (GRCm39) |
F1637L |
unknown |
Het |
| Igkv5-48 |
G |
C |
6: 69,703,616 (GRCm39) |
N96K |
possibly damaging |
Het |
| Itga11 |
T |
C |
9: 62,662,922 (GRCm39) |
I546T |
probably damaging |
Het |
| Map3k5 |
T |
A |
10: 19,955,000 (GRCm39) |
F624L |
possibly damaging |
Het |
| Map7 |
T |
A |
10: 20,145,336 (GRCm39) |
|
probably null |
Het |
| Mdga2 |
A |
T |
12: 66,844,409 (GRCm39) |
D196E |
possibly damaging |
Het |
| Mettl2 |
T |
C |
11: 105,019,791 (GRCm39) |
C143R |
probably benign |
Het |
| Mmut |
G |
T |
17: 41,249,481 (GRCm39) |
R152L |
probably benign |
Het |
| Ncam1 |
G |
T |
9: 49,418,825 (GRCm39) |
T825K |
probably damaging |
Het |
| Nucb2 |
C |
A |
7: 116,128,063 (GRCm39) |
N257K |
probably benign |
Het |
| Or1e19 |
A |
G |
11: 73,316,651 (GRCm39) |
S53P |
probably benign |
Het |
| Or1p1c |
A |
T |
11: 74,160,304 (GRCm39) |
I30F |
probably benign |
Het |
| Or2b7 |
T |
A |
13: 21,740,016 (GRCm39) |
M59L |
possibly damaging |
Het |
| Or51i1 |
A |
T |
7: 103,670,762 (GRCm39) |
Y254* |
probably null |
Het |
| Or52n1 |
A |
T |
7: 104,383,248 (GRCm39) |
F108I |
probably damaging |
Het |
| Or8k38 |
C |
T |
2: 86,488,472 (GRCm39) |
C110Y |
probably benign |
Het |
| Pamr1 |
T |
A |
2: 102,441,963 (GRCm39) |
V184D |
probably damaging |
Het |
| Paqr9 |
A |
T |
9: 95,442,888 (GRCm39) |
I293F |
possibly damaging |
Het |
| Pi15 |
G |
T |
1: 17,690,126 (GRCm39) |
|
probably null |
Het |
| Pkm |
T |
A |
9: 59,578,923 (GRCm39) |
I301N |
probably damaging |
Het |
| Pramel1 |
T |
A |
4: 143,123,961 (GRCm39) |
I212N |
probably benign |
Het |
| Prdm6 |
A |
T |
18: 53,701,373 (GRCm39) |
I549F |
probably damaging |
Het |
| Rad51b |
T |
A |
12: 79,704,662 (GRCm39) |
V274E |
probably damaging |
Het |
| Rd3l |
T |
A |
12: 111,946,593 (GRCm39) |
Y61F |
probably damaging |
Het |
| Resf1 |
T |
A |
6: 149,229,906 (GRCm39) |
I984N |
probably damaging |
Het |
| Rgs11 |
T |
C |
17: 26,427,233 (GRCm39) |
V388A |
probably damaging |
Het |
| Rictor |
A |
G |
15: 6,812,566 (GRCm39) |
I901V |
probably benign |
Het |
| Riox2 |
A |
G |
16: 59,312,195 (GRCm39) |
D444G |
probably benign |
Het |
| Scn2a |
T |
A |
2: 65,594,014 (GRCm39) |
V1621E |
probably damaging |
Het |
| Sec11c |
A |
G |
18: 65,945,818 (GRCm39) |
I94V |
possibly damaging |
Het |
| Sfi1 |
ACA |
ACATCTTCCCAAAGCCAGTCA |
11: 3,103,382 (GRCm39) |
|
probably benign |
Het |
| Slc34a1 |
T |
C |
13: 55,556,815 (GRCm39) |
I337T |
probably benign |
Het |
| Slc6a19 |
T |
C |
13: 73,830,269 (GRCm39) |
K516E |
probably benign |
Het |
| Slco1b2 |
A |
T |
6: 141,628,980 (GRCm39) |
M596L |
probably benign |
Het |
| Smarce1 |
A |
G |
11: 99,110,511 (GRCm39) |
I100T |
possibly damaging |
Het |
| Stk32c |
A |
T |
7: 138,705,161 (GRCm39) |
M119K |
possibly damaging |
Het |
| Tekt2 |
T |
C |
4: 126,217,266 (GRCm39) |
|
probably null |
Het |
| Tenm4 |
A |
T |
7: 96,461,177 (GRCm39) |
N908Y |
probably damaging |
Het |
| Tex38 |
A |
G |
4: 115,637,792 (GRCm39) |
S4P |
probably benign |
Het |
| Top2b |
T |
A |
14: 16,393,239 (GRCm38) |
H299Q |
probably benign |
Het |
| Trim55 |
C |
A |
3: 19,713,341 (GRCm39) |
R131S |
probably benign |
Het |
| Vmn2r109 |
A |
T |
17: 20,774,531 (GRCm39) |
Y275N |
possibly damaging |
Het |
| Vmn2r116 |
C |
T |
17: 23,605,916 (GRCm39) |
T276I |
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 |
|
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 |
|
|
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 |
|
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'- TCAGGTAATGACACACAGCTC -3'
(R):5'- GGACTAACATCCTCGTGATTCC -3'
Sequencing Primer
(F):5'- AGCCATGCTCTGTCTGTGCAG -3'
(R):5'- GTGATTCCACAAACCCAGCTGAG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation