Incidental Mutation 'R0840:Prpf39'
ID |
77129 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prpf39
|
Ensembl Gene |
ENSMUSG00000035597 |
Gene Name |
pre-mRNA processing factor 39 |
Synonyms |
Srcs1 |
MMRRC Submission |
039019-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.947)
|
Stock # |
R0840 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
65083107-65110160 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 65094980 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 219
(N219K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112953
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120580]
[ENSMUST00000129956]
[ENSMUST00000223315]
[ENSMUST00000223341]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000120580
AA Change: N219K
PolyPhen 2
Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000112953 Gene: ENSMUSG00000035597 AA Change: N219K
Domain | Start | End | E-Value | Type |
HAT
|
107 |
139 |
3.71e-2 |
SMART |
HAT
|
141 |
173 |
4.39e-4 |
SMART |
HAT
|
181 |
216 |
2.07e0 |
SMART |
HAT
|
218 |
251 |
1.36e2 |
SMART |
low complexity region
|
277 |
290 |
N/A |
INTRINSIC |
Blast:HAT
|
323 |
363 |
6e-18 |
BLAST |
HAT
|
365 |
397 |
3.2e-6 |
SMART |
HAT
|
398 |
431 |
3.21e1 |
SMART |
HAT
|
505 |
537 |
3.63e1 |
SMART |
low complexity region
|
645 |
664 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129956
|
SMART Domains |
Protein: ENSMUSP00000114713 Gene: ENSMUSG00000035597
Domain | Start | End | E-Value | Type |
Blast:HAT
|
107 |
139 |
7e-17 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220462
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220729
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220798
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221221
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223315
AA Change: N100K
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222154
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223341
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223105
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 94.1%
|
Validation Efficiency |
100% (51/51) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
C |
G |
12: 71,205,657 (GRCm39) |
Q434E |
probably benign |
Het |
A930011G23Rik |
T |
C |
5: 99,382,547 (GRCm39) |
T234A |
probably benign |
Het |
Acot5 |
G |
A |
12: 84,122,614 (GRCm39) |
W399* |
probably null |
Het |
Adra1a |
A |
G |
14: 66,965,159 (GRCm39) |
E383G |
possibly damaging |
Het |
Ahnak |
T |
A |
19: 8,982,427 (GRCm39) |
I1237N |
probably damaging |
Het |
Bsg |
A |
G |
10: 79,545,519 (GRCm39) |
T28A |
probably damaging |
Het |
Cacna1i |
A |
T |
15: 80,243,150 (GRCm39) |
I436F |
possibly damaging |
Het |
Cd109 |
T |
C |
9: 78,571,612 (GRCm39) |
I417T |
probably benign |
Het |
Cep295 |
A |
T |
9: 15,245,611 (GRCm39) |
D948E |
probably benign |
Het |
Cfap92 |
G |
T |
6: 87,657,260 (GRCm39) |
|
noncoding transcript |
Het |
Clcn3 |
C |
A |
8: 61,382,188 (GRCm39) |
V467F |
probably benign |
Het |
Cntnap3 |
T |
C |
13: 64,935,724 (GRCm39) |
S380G |
possibly damaging |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dll4 |
T |
A |
2: 119,156,966 (GRCm39) |
N79K |
probably benign |
Het |
Ep300 |
A |
T |
15: 81,529,134 (GRCm39) |
N1558I |
unknown |
Het |
Fblim1 |
A |
G |
4: 141,308,320 (GRCm39) |
F330L |
possibly damaging |
Het |
Fbxo46 |
T |
A |
7: 18,871,073 (GRCm39) |
M564K |
possibly damaging |
Het |
Fnip1 |
T |
A |
11: 54,384,007 (GRCm39) |
|
probably benign |
Het |
Foxl2 |
A |
T |
9: 98,837,984 (GRCm39) |
K91* |
probably null |
Het |
Gapvd1 |
C |
A |
2: 34,619,125 (GRCm39) |
V83F |
probably benign |
Het |
Guk1 |
G |
A |
11: 59,075,921 (GRCm39) |
R146C |
probably damaging |
Het |
Irf8 |
G |
A |
8: 121,480,220 (GRCm39) |
G153S |
probably benign |
Het |
Kcnu1 |
T |
A |
8: 26,403,712 (GRCm39) |
M1K |
probably null |
Het |
Krt32 |
G |
A |
11: 99,972,068 (GRCm39) |
P427S |
probably benign |
Het |
Lrp12 |
A |
G |
15: 39,739,554 (GRCm39) |
S529P |
probably damaging |
Het |
Mettl22 |
T |
C |
16: 8,300,021 (GRCm39) |
V134A |
probably damaging |
Het |
Morc2b |
G |
T |
17: 33,355,086 (GRCm39) |
H895Q |
probably benign |
Het |
Nrros |
T |
C |
16: 31,962,241 (GRCm39) |
D556G |
probably damaging |
Het |
Nrxn3 |
A |
G |
12: 90,298,567 (GRCm39) |
S1367G |
possibly damaging |
Het |
Or10al7 |
A |
G |
17: 38,366,463 (GRCm39) |
F7S |
probably benign |
Het |
Or56b1b |
A |
T |
7: 108,164,823 (GRCm39) |
S60T |
probably benign |
Het |
Pcnx3 |
T |
A |
19: 5,735,729 (GRCm39) |
|
probably null |
Het |
Pgap2 |
A |
T |
7: 101,886,655 (GRCm39) |
M226L |
probably damaging |
Het |
Pik3c2g |
A |
G |
6: 139,841,798 (GRCm39) |
I616M |
probably damaging |
Het |
Pisd |
A |
G |
5: 32,894,656 (GRCm39) |
I380T |
probably damaging |
Het |
Pkhd1 |
T |
C |
1: 20,420,745 (GRCm39) |
I2454V |
probably damaging |
Het |
Plpp2 |
A |
G |
10: 79,363,378 (GRCm39) |
I151T |
probably benign |
Het |
Polr3a |
G |
A |
14: 24,502,268 (GRCm39) |
T1295I |
possibly damaging |
Het |
Pot1a |
T |
C |
6: 25,748,283 (GRCm39) |
|
probably benign |
Het |
Rnf17 |
T |
A |
14: 56,712,904 (GRCm39) |
N790K |
probably damaging |
Het |
Slit3 |
C |
T |
11: 35,514,263 (GRCm39) |
|
probably benign |
Het |
Stx1a |
T |
A |
5: 135,070,088 (GRCm39) |
|
probably benign |
Het |
Tenm3 |
C |
A |
8: 48,788,777 (GRCm39) |
V690F |
probably damaging |
Het |
Tmcc3 |
A |
G |
10: 94,414,633 (GRCm39) |
I143V |
probably benign |
Het |
Tmem41b |
G |
A |
7: 109,580,256 (GRCm39) |
S36F |
probably damaging |
Het |
Trim5 |
A |
T |
7: 103,914,978 (GRCm39) |
W364R |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,617,155 (GRCm39) |
Y16403C |
probably damaging |
Het |
Vps8 |
T |
C |
16: 21,275,071 (GRCm39) |
S210P |
probably damaging |
Het |
Zbtb3 |
T |
A |
19: 8,780,821 (GRCm39) |
S145T |
possibly damaging |
Het |
Zfp882 |
T |
A |
8: 72,668,530 (GRCm39) |
C452* |
probably null |
Het |
|
Other mutations in Prpf39 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00834:Prpf39
|
APN |
12 |
65,090,037 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01025:Prpf39
|
APN |
12 |
65,089,255 (GRCm39) |
unclassified |
probably benign |
|
IGL01323:Prpf39
|
APN |
12 |
65,089,498 (GRCm39) |
missense |
possibly damaging |
0.70 |
IGL02346:Prpf39
|
APN |
12 |
65,104,510 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02966:Prpf39
|
APN |
12 |
65,089,553 (GRCm39) |
missense |
probably benign |
0.45 |
IGL03189:Prpf39
|
APN |
12 |
65,090,076 (GRCm39) |
nonsense |
probably null |
|
IGL03357:Prpf39
|
APN |
12 |
65,108,211 (GRCm39) |
unclassified |
probably benign |
|
R0103:Prpf39
|
UTSW |
12 |
65,102,057 (GRCm39) |
missense |
possibly damaging |
0.56 |
R0103:Prpf39
|
UTSW |
12 |
65,102,057 (GRCm39) |
missense |
possibly damaging |
0.56 |
R0328:Prpf39
|
UTSW |
12 |
65,090,145 (GRCm39) |
splice site |
probably benign |
|
R0549:Prpf39
|
UTSW |
12 |
65,103,030 (GRCm39) |
missense |
probably benign |
0.05 |
R1248:Prpf39
|
UTSW |
12 |
65,100,740 (GRCm39) |
splice site |
probably benign |
|
R1322:Prpf39
|
UTSW |
12 |
65,089,436 (GRCm39) |
missense |
possibly damaging |
0.48 |
R1481:Prpf39
|
UTSW |
12 |
65,100,088 (GRCm39) |
missense |
probably damaging |
1.00 |
R2209:Prpf39
|
UTSW |
12 |
65,104,689 (GRCm39) |
critical splice donor site |
probably null |
|
R2232:Prpf39
|
UTSW |
12 |
65,090,786 (GRCm39) |
nonsense |
probably null |
|
R2507:Prpf39
|
UTSW |
12 |
65,104,589 (GRCm39) |
missense |
probably benign |
0.36 |
R2508:Prpf39
|
UTSW |
12 |
65,104,589 (GRCm39) |
missense |
probably benign |
0.36 |
R2959:Prpf39
|
UTSW |
12 |
65,089,297 (GRCm39) |
missense |
probably damaging |
1.00 |
R3117:Prpf39
|
UTSW |
12 |
65,104,651 (GRCm39) |
missense |
possibly damaging |
0.79 |
R3118:Prpf39
|
UTSW |
12 |
65,104,651 (GRCm39) |
missense |
possibly damaging |
0.79 |
R3980:Prpf39
|
UTSW |
12 |
65,108,231 (GRCm39) |
unclassified |
probably benign |
|
R4407:Prpf39
|
UTSW |
12 |
65,103,040 (GRCm39) |
missense |
probably damaging |
1.00 |
R4620:Prpf39
|
UTSW |
12 |
65,089,337 (GRCm39) |
missense |
probably benign |
|
R4926:Prpf39
|
UTSW |
12 |
65,090,830 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5154:Prpf39
|
UTSW |
12 |
65,095,051 (GRCm39) |
missense |
probably benign |
0.29 |
R6248:Prpf39
|
UTSW |
12 |
65,089,528 (GRCm39) |
missense |
probably damaging |
1.00 |
R6334:Prpf39
|
UTSW |
12 |
65,089,587 (GRCm39) |
splice site |
probably null |
|
R6614:Prpf39
|
UTSW |
12 |
65,089,337 (GRCm39) |
missense |
probably benign |
|
R6749:Prpf39
|
UTSW |
12 |
65,103,048 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6944:Prpf39
|
UTSW |
12 |
65,089,454 (GRCm39) |
missense |
probably benign |
0.03 |
R7023:Prpf39
|
UTSW |
12 |
65,100,074 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7503:Prpf39
|
UTSW |
12 |
65,100,167 (GRCm39) |
missense |
probably benign |
0.04 |
R7532:Prpf39
|
UTSW |
12 |
65,100,145 (GRCm39) |
missense |
probably benign |
0.00 |
R7608:Prpf39
|
UTSW |
12 |
65,100,220 (GRCm39) |
missense |
probably benign |
0.41 |
R8286:Prpf39
|
UTSW |
12 |
65,103,132 (GRCm39) |
missense |
probably benign |
|
R8439:Prpf39
|
UTSW |
12 |
65,102,036 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8787:Prpf39
|
UTSW |
12 |
65,089,555 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9101:Prpf39
|
UTSW |
12 |
65,090,078 (GRCm39) |
missense |
probably damaging |
1.00 |
R9153:Prpf39
|
UTSW |
12 |
65,106,671 (GRCm39) |
missense |
probably damaging |
0.99 |
R9448:Prpf39
|
UTSW |
12 |
65,108,034 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GAAACTGCACTCGTCTTTACTACCCTT -3'
(R):5'- ACTGCAATCTTTGCTGTTCTGGGTAT -3'
Sequencing Primer
(F):5'- TGATCAATTCTGCTATGATTCCAC -3'
(R):5'- cagatcctgctatgctgagac -3'
|
Posted On |
2013-10-16 |