Incidental Mutation 'R7731:Prpf8'
| ID |
595854 |
| 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 |
045787-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R7731 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
75377642-75400275 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75399732 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 2264
(S2264P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018449
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018449]
[ENSMUST00000042808]
[ENSMUST00000042972]
[ENSMUST00000102510]
[ENSMUST00000118243]
[ENSMUST00000123819]
|
| AlphaFold |
Q99PV0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018449
AA Change: S2264P
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000018449
Gene: ENSMUSG00000020850
AA Change: S2264P
| 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 |
probably damaging
Transcript: ENSMUST00000102510
AA Change: S2264P
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099568
Gene: ENSMUSG00000020850
AA Change: S2264P
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.3%
|
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
A |
G |
9: 99,502,470 (GRCm39) |
E210G |
possibly damaging |
Het |
| Accsl |
T |
C |
2: 93,691,363 (GRCm39) |
T372A |
probably benign |
Het |
| Adgrf5 |
T |
A |
17: 43,761,451 (GRCm39) |
S1049T |
probably damaging |
Het |
| Agmo |
G |
A |
12: 37,464,939 (GRCm39) |
R405K |
probably benign |
Het |
| Akap3 |
A |
G |
6: 126,842,031 (GRCm39) |
T217A |
probably benign |
Het |
| Ankfy1 |
T |
A |
11: 72,603,107 (GRCm39) |
N45K |
probably benign |
Het |
| Ankrd11 |
G |
A |
8: 123,622,172 (GRCm39) |
T560I |
probably benign |
Het |
| Aqp1 |
T |
C |
6: 55,322,804 (GRCm39) |
Y186H |
possibly damaging |
Het |
| Arhgef18 |
G |
A |
8: 3,434,936 (GRCm39) |
V194M |
probably damaging |
Het |
| Arnt |
T |
C |
3: 95,391,086 (GRCm39) |
V320A |
probably benign |
Het |
| B230217C12Rik |
T |
C |
11: 97,732,226 (GRCm39) |
L2P |
unknown |
Het |
| Bco1 |
C |
A |
8: 117,857,807 (GRCm39) |
S477R |
possibly damaging |
Het |
| Brd4 |
A |
G |
17: 32,430,198 (GRCm39) |
S703P |
possibly damaging |
Het |
| Ceacam3 |
T |
A |
7: 16,892,275 (GRCm39) |
N339K |
|
Het |
| Cebpb |
A |
G |
2: 167,531,126 (GRCm39) |
D62G |
probably damaging |
Het |
| Clca4a |
T |
C |
3: 144,658,546 (GRCm39) |
I890V |
probably benign |
Het |
| Cyp2d9 |
A |
G |
15: 82,339,633 (GRCm39) |
|
probably null |
Het |
| Cyth1 |
T |
C |
11: 118,059,879 (GRCm39) |
T374A |
possibly damaging |
Het |
| Dennd3 |
A |
T |
15: 73,434,216 (GRCm39) |
H962L |
probably damaging |
Het |
| Dhtkd1 |
T |
G |
2: 5,928,923 (GRCm39) |
L249F |
probably benign |
Het |
| Dnah7b |
T |
A |
1: 46,178,905 (GRCm39) |
H859Q |
probably benign |
Het |
| E2f4 |
A |
G |
8: 106,025,265 (GRCm39) |
D115G |
probably damaging |
Het |
| Eif4a3l1 |
A |
G |
6: 136,305,871 (GRCm39) |
I111V |
probably benign |
Het |
| Exoc3l4 |
G |
C |
12: 111,397,182 (GRCm39) |
D688H |
possibly damaging |
Het |
| Fan1 |
C |
T |
7: 64,022,444 (GRCm39) |
V270I |
probably benign |
Het |
| Fat2 |
A |
T |
11: 55,201,532 (GRCm39) |
I514N |
probably damaging |
Het |
| Fndc1 |
G |
A |
17: 7,992,271 (GRCm39) |
T475I |
unknown |
Het |
| Fstl5 |
T |
A |
3: 76,569,069 (GRCm39) |
I574N |
probably damaging |
Het |
| Fzd4 |
T |
C |
7: 89,057,258 (GRCm39) |
V435A |
possibly damaging |
Het |
| Fzd6 |
T |
C |
15: 38,897,327 (GRCm39) |
F492S |
probably damaging |
Het |
| Gm4924 |
T |
A |
10: 82,213,361 (GRCm39) |
N386K |
unknown |
Het |
| Hbp1 |
A |
T |
12: 31,983,367 (GRCm39) |
D362E |
possibly damaging |
Het |
| Hectd4 |
A |
C |
5: 121,445,077 (GRCm39) |
M105L |
probably benign |
Het |
| Hivep2 |
C |
T |
10: 14,025,458 (GRCm39) |
P2424L |
probably benign |
Het |
| Hspa4 |
A |
T |
11: 53,157,791 (GRCm39) |
|
probably null |
Het |
| Igf2bp3 |
A |
G |
6: 49,111,665 (GRCm39) |
V122A |
probably damaging |
Het |
| Ikzf2 |
A |
T |
1: 69,578,302 (GRCm39) |
N402K |
possibly damaging |
Het |
| Ip6k1 |
T |
C |
9: 107,921,927 (GRCm39) |
F207S |
probably damaging |
Het |
| Kbtbd8 |
C |
A |
6: 95,095,559 (GRCm39) |
N24K |
probably benign |
Het |
| Krtap10-4 |
T |
G |
10: 77,662,654 (GRCm39) |
T75P |
unknown |
Het |
| Macf1 |
C |
A |
4: 123,338,672 (GRCm39) |
S4355I |
probably benign |
Het |
| Muc5b |
A |
T |
7: 141,411,042 (GRCm39) |
|
probably null |
Het |
| Myo3a |
G |
A |
2: 22,287,400 (GRCm39) |
V179M |
probably damaging |
Het |
| Nup210 |
G |
T |
6: 91,048,870 (GRCm39) |
T462K |
possibly damaging |
Het |
| Or11g27 |
T |
A |
14: 50,771,141 (GRCm39) |
S91T |
probably damaging |
Het |
| Or1l4 |
A |
G |
2: 37,091,561 (GRCm39) |
M103V |
probably benign |
Het |
| Or51f5 |
A |
G |
7: 102,424,141 (GRCm39) |
I137V |
probably benign |
Het |
| Or5j1 |
T |
C |
2: 86,879,578 (GRCm39) |
M1V |
probably null |
Het |
| Or8b53 |
A |
G |
9: 38,667,542 (GRCm39) |
Q186R |
possibly damaging |
Het |
| Ostn |
G |
A |
16: 27,165,668 (GRCm39) |
R119Q |
probably damaging |
Het |
| Pcdhga11 |
A |
T |
18: 37,889,564 (GRCm39) |
N191Y |
probably benign |
Het |
| Pcsk6 |
A |
T |
7: 65,683,641 (GRCm39) |
Q752L |
probably benign |
Het |
| Pfas |
T |
C |
11: 68,890,871 (GRCm39) |
T347A |
probably damaging |
Het |
| Pkd1 |
A |
T |
17: 24,792,872 (GRCm39) |
R1520W |
probably damaging |
Het |
| Pphln1-ps1 |
C |
T |
16: 13,495,623 (GRCm39) |
R241C |
probably damaging |
Het |
| Ptcd1 |
C |
A |
5: 145,088,174 (GRCm39) |
R612S |
probably benign |
Het |
| Ptch2 |
T |
A |
4: 116,965,492 (GRCm39) |
F359Y |
probably benign |
Het |
| Ptprr |
A |
C |
10: 116,073,200 (GRCm39) |
D474A |
probably damaging |
Het |
| Pum1 |
C |
A |
4: 130,490,274 (GRCm39) |
Q846K |
probably benign |
Het |
| Slc22a14 |
C |
T |
9: 118,999,677 (GRCm39) |
A505T |
possibly damaging |
Het |
| Smpdl3a |
A |
G |
10: 57,678,650 (GRCm39) |
Y151C |
probably damaging |
Het |
| Snrnp200 |
A |
G |
2: 127,071,022 (GRCm39) |
N1101S |
probably benign |
Het |
| Sprr2b |
CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC |
CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC |
3: 92,224,826 (GRCm39) |
|
probably benign |
Het |
| Sptlc1 |
A |
G |
13: 53,487,993 (GRCm39) |
V450A |
probably benign |
Het |
| Sqle |
A |
G |
15: 59,187,821 (GRCm39) |
Y43C |
probably benign |
Het |
| Srgap3 |
T |
C |
6: 112,743,858 (GRCm39) |
H460R |
probably benign |
Het |
| Syt15 |
A |
T |
14: 33,945,024 (GRCm39) |
E190D |
possibly damaging |
Het |
| Tbc1d10b |
T |
C |
7: 126,797,993 (GRCm39) |
K716R |
probably benign |
Het |
| Tbx20 |
T |
C |
9: 24,681,993 (GRCm39) |
I120M |
probably damaging |
Het |
| Tgm1 |
T |
G |
14: 55,947,978 (GRCm39) |
I274L |
probably benign |
Het |
| Tmem156 |
C |
T |
5: 65,232,905 (GRCm39) |
|
probably null |
Het |
| Tnk2 |
A |
G |
16: 32,488,952 (GRCm39) |
D264G |
possibly damaging |
Het |
| Tsc22d4 |
A |
G |
5: 137,756,956 (GRCm39) |
S306G |
possibly damaging |
Het |
| Tut1 |
T |
A |
19: 8,936,626 (GRCm39) |
V150D |
probably benign |
Het |
| Uchl5 |
T |
C |
1: 143,670,275 (GRCm39) |
F143L |
|
Het |
| Vmn1r23 |
T |
C |
6: 57,903,319 (GRCm39) |
K153R |
probably benign |
Het |
| Zfp236 |
A |
T |
18: 82,698,798 (GRCm39) |
D94E |
probably benign |
Het |
| Zfp759 |
T |
C |
13: 67,287,690 (GRCm39) |
Y414H |
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 |
|
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'- TCATCACGTGCAGGTTGGTG -3'
(R):5'- TCGAACACCTAATGGGAGGG -3'
Sequencing Primer
(F):5'- CCTCTTGGGTGGAAATATTATAGAGC -3'
(R):5'- CATCAGAAGTTAATAAGGTTCTGCC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation