Incidental Mutation 'R3118:Prpf39'
ID |
263132 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prpf39
|
Ensembl Gene |
ENSMUSG00000035597 |
Gene Name |
pre-mRNA processing factor 39 |
Synonyms |
Srcs1 |
MMRRC Submission |
040591-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.947)
|
Stock # |
R3118 (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: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts6 |
T |
G |
13: 104,450,787 (GRCm39) |
D323E |
possibly damaging |
Het |
Ccdc125 |
T |
C |
13: 100,826,827 (GRCm39) |
V228A |
possibly damaging |
Het |
Chrna2 |
A |
G |
14: 66,388,442 (GRCm39) |
I486V |
probably damaging |
Het |
Cpxm1 |
T |
C |
2: 130,235,493 (GRCm39) |
T500A |
possibly damaging |
Het |
Crebbp |
G |
A |
16: 3,927,062 (GRCm39) |
R628C |
probably damaging |
Het |
Cxcl1 |
T |
A |
5: 91,039,454 (GRCm39) |
|
probably null |
Het |
Dab1 |
G |
A |
4: 104,537,266 (GRCm39) |
|
probably null |
Het |
Ddx11 |
T |
A |
17: 66,456,272 (GRCm39) |
M751K |
probably damaging |
Het |
Ece1 |
A |
G |
4: 137,675,855 (GRCm39) |
T410A |
probably benign |
Het |
Eml5 |
C |
T |
12: 98,831,753 (GRCm39) |
V402I |
probably damaging |
Het |
Fam241b |
A |
T |
10: 61,944,635 (GRCm39) |
*121R |
probably null |
Het |
Fras1 |
G |
A |
5: 96,919,571 (GRCm39) |
A3595T |
probably damaging |
Het |
Gpr149 |
A |
G |
3: 62,502,443 (GRCm39) |
V471A |
probably benign |
Het |
Lemd3 |
A |
G |
10: 120,783,156 (GRCm39) |
S557P |
probably benign |
Het |
Mkrn3 |
CGGCATTGGCACTGGCATTGGCACTGGCATTGGCA |
CGGCATTGGCACTGGCATTGGCA |
7: 62,068,962 (GRCm39) |
|
probably benign |
Het |
Mmp7 |
T |
C |
9: 7,697,693 (GRCm39) |
Y243H |
probably benign |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Pak6 |
T |
C |
2: 118,520,222 (GRCm39) |
V71A |
probably damaging |
Het |
Pira2 |
T |
A |
7: 3,844,676 (GRCm39) |
R452* |
probably null |
Het |
Plxna1 |
A |
G |
6: 89,333,958 (GRCm39) |
S224P |
possibly damaging |
Het |
Prss12 |
A |
T |
3: 123,298,976 (GRCm39) |
T583S |
possibly damaging |
Het |
Rgs10 |
T |
C |
7: 128,004,955 (GRCm39) |
E65G |
probably damaging |
Het |
Rnf19a |
T |
A |
15: 36,242,045 (GRCm39) |
K665* |
probably null |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Tbx15 |
T |
C |
3: 99,259,470 (GRCm39) |
I447T |
probably damaging |
Het |
Tmem135 |
A |
G |
7: 88,797,005 (GRCm39) |
S364P |
probably benign |
Het |
Ugt1a9 |
T |
C |
1: 87,998,562 (GRCm39) |
V4A |
probably benign |
Het |
Zfp595 |
T |
C |
13: 67,468,963 (GRCm39) |
I95M |
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 |
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'- TCGCTATGTATGCACACTGACAAC -3'
(R):5'- AATTACCTCCACATGTTTAGTACAC -3'
Sequencing Primer
(F):5'- TGTATGCACACTGACAACATACACG -3'
(R):5'- ACATGAGTAAGCCTGGTTACCTGC -3'
|
Posted On |
2015-02-05 |