Incidental Mutation 'R8286:Prpf39'
| ID |
638474 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prpf39
|
| Ensembl Gene |
ENSMUSG00000035597 |
| Gene Name |
pre-mRNA processing factor 39 |
| Synonyms |
Srcs1 |
| MMRRC Submission |
067708-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.947)
|
| Stock # |
R8286 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
65083107-65110160 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65103132 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 469
(M469V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112953
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120580]
[ENSMUST00000129956]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120580
AA Change: M469V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112953
Gene: ENSMUSG00000035597
AA Change: M469V
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (42/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
A |
T |
5: 8,914,119 (GRCm39) |
Y1163F |
probably damaging |
Het |
| Abcd4 |
A |
G |
12: 84,649,920 (GRCm39) |
V589A |
probably benign |
Het |
| Adam26b |
T |
A |
8: 43,972,998 (GRCm39) |
N668I |
probably benign |
Het |
| Atp2b2 |
T |
C |
6: 113,819,275 (GRCm39) |
N6S |
possibly damaging |
Het |
| Cacna2d2 |
A |
G |
9: 107,392,063 (GRCm39) |
Y468C |
probably damaging |
Het |
| Cngb1 |
A |
T |
8: 96,002,252 (GRCm39) |
V52D |
|
Het |
| Cped1 |
A |
T |
6: 22,254,601 (GRCm39) |
Y998F |
probably benign |
Het |
| Csmd1 |
A |
G |
8: 16,039,188 (GRCm39) |
V2390A |
probably benign |
Het |
| Ctsj |
A |
T |
13: 61,148,330 (GRCm39) |
C321* |
probably null |
Het |
| Dip2a |
A |
C |
10: 76,122,297 (GRCm39) |
I139S |
probably benign |
Het |
| Dnaaf9 |
T |
C |
2: 130,559,248 (GRCm39) |
I937V |
probably damaging |
Het |
| Eif1 |
A |
G |
11: 100,210,795 (GRCm39) |
|
probably benign |
Het |
| Exoc1 |
T |
C |
5: 76,711,087 (GRCm39) |
I662T |
probably benign |
Het |
| Flt4 |
A |
G |
11: 49,528,089 (GRCm39) |
R971G |
probably benign |
Het |
| Hecw2 |
T |
C |
1: 53,879,928 (GRCm39) |
T1294A |
probably damaging |
Het |
| Herc2 |
T |
G |
7: 55,879,410 (GRCm39) |
V4676G |
possibly damaging |
Het |
| Hif1a |
A |
G |
12: 73,992,022 (GRCm39) |
|
probably benign |
Het |
| Icam5 |
C |
A |
9: 20,946,822 (GRCm39) |
A450E |
possibly damaging |
Het |
| Map3k21 |
T |
A |
8: 126,637,498 (GRCm39) |
M28K |
probably benign |
Het |
| Mars1 |
C |
A |
10: 127,141,348 (GRCm39) |
R347L |
probably benign |
Het |
| Mctp1 |
A |
T |
13: 76,905,174 (GRCm39) |
I426F |
probably benign |
Het |
| Mdn1 |
T |
C |
4: 32,731,960 (GRCm39) |
S3007P |
possibly damaging |
Het |
| Mical3 |
T |
C |
6: 120,998,149 (GRCm39) |
R65G |
possibly damaging |
Het |
| Ncald |
G |
T |
15: 37,397,505 (GRCm39) |
Y58* |
probably null |
Het |
| Neil2 |
A |
T |
14: 63,426,154 (GRCm39) |
I72K |
probably benign |
Het |
| Or8b35 |
C |
A |
9: 37,904,401 (GRCm39) |
Y204* |
probably null |
Het |
| Or8k23 |
A |
G |
2: 86,186,691 (GRCm39) |
F12L |
probably damaging |
Het |
| Pan2 |
A |
G |
10: 128,154,189 (GRCm39) |
D1086G |
probably damaging |
Het |
| Plxnb1 |
A |
G |
9: 108,935,870 (GRCm39) |
T1087A |
probably damaging |
Het |
| Ptprk |
A |
T |
10: 28,444,323 (GRCm39) |
S905C |
probably damaging |
Het |
| Rassf5 |
T |
C |
1: 131,140,067 (GRCm39) |
D164G |
possibly damaging |
Het |
| Setd1a |
T |
C |
7: 127,385,356 (GRCm39) |
W688R |
possibly damaging |
Het |
| Sfswap |
C |
T |
5: 129,616,783 (GRCm39) |
T409I |
probably damaging |
Het |
| Slc50a1 |
G |
A |
3: 89,177,710 (GRCm39) |
|
probably null |
Het |
| Slfn9 |
G |
C |
11: 82,872,095 (GRCm39) |
N880K |
probably damaging |
Het |
| Sprr1b |
T |
C |
3: 92,344,720 (GRCm39) |
K52R |
probably benign |
Het |
| Tfb2m |
T |
C |
1: 179,356,770 (GRCm39) |
D388G |
probably damaging |
Het |
| Tmem234 |
T |
C |
4: 129,500,881 (GRCm39) |
|
probably benign |
Het |
| Traj43 |
A |
G |
14: 54,412,201 (GRCm39) |
N1D |
|
Het |
| Trmt1l |
T |
A |
1: 151,333,543 (GRCm39) |
I682N |
probably damaging |
Het |
| Trp53rka |
T |
C |
2: 165,333,445 (GRCm39) |
D148G |
probably damaging |
Het |
| Vmn2r86 |
A |
G |
10: 130,285,855 (GRCm39) |
V440A |
probably benign |
Het |
| Vxn |
C |
T |
1: 9,683,613 (GRCm39) |
T67I |
probably benign |
Het |
| Wdfy3 |
C |
T |
5: 102,085,287 (GRCm39) |
V736I |
probably benign |
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 |
|
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 |
|
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'- AGATCTAGACTGCAGGCTAATG -3'
(R):5'- TCATCACAGTTGCCAAAGGG -3'
Sequencing Primer
(F):5'- CTAGACTGCAGGCTAATGTTTTTC -3'
(R):5'- TCACAGTTGCCAAAGGGAAAAAGTAC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation