Incidental Mutation 'R0549:Prpf39'
ID |
45037 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prpf39
|
Ensembl Gene |
ENSMUSG00000035597 |
Gene Name |
pre-mRNA processing factor 39 |
Synonyms |
Srcs1 |
MMRRC Submission |
038741-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.947)
|
Stock # |
R0549 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
65083107-65110160 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 65103030 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 435
(I435F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112953
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120580]
[ENSMUST00000129956]
[ENSMUST00000223315]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000120580
AA Change: I435F
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000112953 Gene: ENSMUSG00000035597 AA Change: I435F
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: ENSMUST00000157165
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220462
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220729
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220798
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223315
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222154
|
Meta Mutation Damage Score |
0.0845 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.3%
|
Validation Efficiency |
96% (48/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc10 |
A |
G |
17: 46,633,216 (GRCm39) |
F498L |
probably damaging |
Het |
Adamts6 |
A |
T |
13: 104,433,763 (GRCm39) |
D64V |
possibly damaging |
Het |
Agbl2 |
T |
C |
2: 90,620,187 (GRCm39) |
|
probably benign |
Het |
Angptl3 |
A |
G |
4: 98,919,692 (GRCm39) |
S151G |
probably benign |
Het |
Arhgap39 |
C |
T |
15: 76,619,086 (GRCm39) |
D833N |
probably damaging |
Het |
C4b |
G |
T |
17: 34,954,389 (GRCm39) |
L927I |
probably damaging |
Het |
Ccl3 |
T |
C |
11: 83,539,162 (GRCm39) |
T66A |
probably damaging |
Het |
Cdh20 |
T |
C |
1: 110,036,674 (GRCm39) |
L618P |
probably damaging |
Het |
Cfap65 |
T |
C |
1: 74,957,603 (GRCm39) |
T989A |
probably benign |
Het |
Cfhr4 |
A |
T |
1: 139,667,226 (GRCm39) |
D377E |
probably damaging |
Het |
Cnpy4 |
T |
C |
5: 138,185,899 (GRCm39) |
F18S |
possibly damaging |
Het |
Col6a5 |
A |
G |
9: 105,781,778 (GRCm39) |
|
probably benign |
Het |
Dppa2 |
G |
A |
16: 48,139,034 (GRCm39) |
R289H |
probably benign |
Het |
Evx2 |
T |
C |
2: 74,489,478 (GRCm39) |
T96A |
probably benign |
Het |
Frmd4a |
A |
G |
2: 4,608,778 (GRCm39) |
E577G |
possibly damaging |
Het |
Gcgr |
G |
A |
11: 120,427,387 (GRCm39) |
G166S |
probably benign |
Het |
Gm5316 |
T |
C |
6: 122,877,150 (GRCm39) |
|
noncoding transcript |
Het |
Gria1 |
G |
A |
11: 57,119,799 (GRCm39) |
R292Q |
probably damaging |
Het |
Hars2 |
T |
A |
18: 36,919,261 (GRCm39) |
|
probably null |
Het |
Hkdc1 |
T |
A |
10: 62,236,019 (GRCm39) |
T508S |
probably benign |
Het |
Kif2b |
A |
T |
11: 91,467,410 (GRCm39) |
I291N |
probably damaging |
Het |
Lmbrd1 |
A |
T |
1: 24,784,001 (GRCm39) |
T377S |
probably benign |
Het |
Lrrc28 |
A |
G |
7: 67,278,090 (GRCm39) |
|
probably benign |
Het |
Mmp3 |
A |
T |
9: 7,455,638 (GRCm39) |
N463I |
probably benign |
Het |
Myh6 |
A |
G |
14: 55,196,065 (GRCm39) |
F578S |
probably damaging |
Het |
Ncbp1 |
T |
A |
4: 46,168,476 (GRCm39) |
M608K |
possibly damaging |
Het |
Nf1 |
T |
C |
11: 79,359,597 (GRCm39) |
F1412L |
probably damaging |
Het |
Nlrp5 |
T |
A |
7: 23,141,227 (GRCm39) |
W1083R |
probably damaging |
Het |
Nrsn1 |
T |
C |
13: 25,446,241 (GRCm39) |
Y45C |
probably benign |
Het |
Or3a1b |
T |
G |
11: 74,012,301 (GRCm39) |
M62R |
probably damaging |
Het |
Osbpl7 |
G |
T |
11: 96,958,368 (GRCm39) |
R881L |
probably damaging |
Het |
Papss1 |
A |
G |
3: 131,324,974 (GRCm39) |
E456G |
possibly damaging |
Het |
Pbxip1 |
T |
A |
3: 89,350,899 (GRCm39) |
|
probably benign |
Het |
Pcca |
A |
G |
14: 122,875,789 (GRCm39) |
|
probably benign |
Het |
Pde1a |
T |
A |
2: 79,695,414 (GRCm39) |
N511I |
probably damaging |
Het |
Rnf213 |
C |
T |
11: 119,355,908 (GRCm39) |
T4117M |
probably damaging |
Het |
Sel1l2 |
A |
T |
2: 140,107,802 (GRCm39) |
M216K |
probably damaging |
Het |
Sidt2 |
A |
G |
9: 45,864,417 (GRCm39) |
|
probably null |
Het |
Sirt3 |
A |
T |
7: 140,449,400 (GRCm39) |
|
probably null |
Het |
Smpd4 |
T |
C |
16: 17,457,176 (GRCm39) |
V378A |
probably benign |
Het |
Svil |
T |
A |
18: 5,064,566 (GRCm39) |
S642T |
possibly damaging |
Het |
Tcp10a |
A |
G |
17: 7,593,950 (GRCm39) |
K92E |
probably benign |
Het |
Tmem144 |
T |
C |
3: 79,730,051 (GRCm39) |
D233G |
probably damaging |
Het |
Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
Tnik |
T |
C |
3: 28,625,069 (GRCm39) |
S335P |
possibly damaging |
Het |
Ush2a |
T |
C |
1: 188,679,150 (GRCm39) |
L4786P |
probably damaging |
Het |
Utp11 |
A |
T |
4: 124,579,872 (GRCm39) |
|
probably benign |
Het |
Vmn1r67 |
A |
G |
7: 10,181,641 (GRCm39) |
N241D |
probably damaging |
Het |
Vmn2r11 |
A |
T |
5: 109,199,963 (GRCm39) |
C497S |
possibly damaging |
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 |
|
R0840:Prpf39
|
UTSW |
12 |
65,094,980 (GRCm39) |
missense |
probably benign |
0.21 |
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'- TTTAGCACAGGGTGGAGTTACAGGA -3'
(R):5'- AGACCAAATCTTTCATCACAGTTGCCA -3'
Sequencing Primer
(F):5'- ATTGTTTCCTTGCCATATCCTAAGAG -3'
(R):5'- CTTTCATCACAGTTGCCAAAGGG -3'
|
Posted On |
2013-06-11 |