Incidental Mutation 'R3117:Prpf39'
| ID |
263104 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prpf39
|
| Ensembl Gene |
ENSMUSG00000035597 |
| Gene Name |
pre-mRNA processing factor 39 |
| Synonyms |
Srcs1 |
| MMRRC Submission |
040590-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.947)
|
| Stock # |
R3117 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
65083107-65110160 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65104651 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 572
(V572A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112953
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021332]
[ENSMUST00000120580]
[ENSMUST00000129956]
[ENSMUST00000220730]
[ENSMUST00000221166]
[ENSMUST00000221913]
[ENSMUST00000223315]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021332
|
| SMART Domains |
Protein: ENSMUSP00000021332
Gene: ENSMUSG00000020949
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2KFV|A
|
1 |
73 |
2e-45 |
PDB |
|
low complexity region
|
91 |
100 |
N/A |
INTRINSIC |
|
Pfam:FKBP_C
|
121 |
221 |
3.9e-33 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000120580
AA Change: V572A
PolyPhen 2
Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000112953
Gene: ENSMUSG00000035597
AA Change: V572A
| 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 |
probably benign
Transcript: ENSMUST00000220730
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220798
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220983
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222154
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220957
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221608
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221166
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221913
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222684
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223315
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223167
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AW551984 |
T |
C |
9: 39,504,656 (GRCm39) |
T532A |
probably benign |
Het |
| Dglucy |
A |
G |
12: 100,804,937 (GRCm39) |
S143G |
probably benign |
Het |
| Dlec1 |
G |
A |
9: 118,972,971 (GRCm39) |
|
probably null |
Het |
| Fcho2 |
A |
C |
13: 98,913,946 (GRCm39) |
I217S |
probably damaging |
Het |
| Filip1l |
T |
C |
16: 57,327,095 (GRCm39) |
S42P |
probably benign |
Het |
| Fras1 |
G |
A |
5: 96,919,571 (GRCm39) |
A3595T |
probably damaging |
Het |
| Hacd3 |
G |
T |
9: 64,905,591 (GRCm39) |
D182E |
probably damaging |
Het |
| Hsfy2 |
C |
G |
1: 56,676,265 (GRCm39) |
D91H |
probably damaging |
Het |
| Man1a |
T |
A |
10: 53,906,890 (GRCm39) |
M295L |
probably damaging |
Het |
| Mkrn3 |
CGGCATTGGCACTGGCATTGGCACTGGCATTGGCA |
CGGCATTGGCACTGGCATTGGCA |
7: 62,068,962 (GRCm39) |
|
probably benign |
Het |
| Mlc1 |
T |
C |
15: 88,860,731 (GRCm39) |
D93G |
probably damaging |
Het |
| Myo5c |
G |
A |
9: 75,173,476 (GRCm39) |
|
probably null |
Het |
| Nlrc4 |
T |
C |
17: 74,743,063 (GRCm39) |
I852V |
probably benign |
Het |
| Notch3 |
C |
T |
17: 32,377,089 (GRCm39) |
C272Y |
probably damaging |
Het |
| Or7g35 |
A |
T |
9: 19,496,237 (GRCm39) |
I135F |
probably damaging |
Het |
| Ovgp1 |
T |
C |
3: 105,893,768 (GRCm39) |
|
probably benign |
Het |
| Pbld2 |
A |
G |
10: 62,890,215 (GRCm39) |
T208A |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Ttc3 |
G |
A |
16: 94,243,422 (GRCm39) |
R1142Q |
possibly damaging |
Het |
| Ttc41 |
T |
C |
10: 86,560,184 (GRCm39) |
M369T |
possibly damaging |
Het |
| Vwa3b |
G |
A |
1: 37,148,158 (GRCm39) |
V437I |
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 |
|
|
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 |
|
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'- CGCTATGTATGCACACTGACAAC -3'
(R):5'- TGAATTACCTCCACATGTTTAGTACAC -3'
Sequencing Primer
(F):5'- TGTATGCACACTGACAACATACACG -3'
(R):5'- ACATGAGTAAGCCTGGTTACCTGC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation