Incidental Mutation 'R4407:Prpf39'
| ID |
327726 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prpf39
|
| Ensembl Gene |
ENSMUSG00000035597 |
| Gene Name |
pre-mRNA processing factor 39 |
| Synonyms |
Srcs1 |
| MMRRC Submission |
041689-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.947)
|
| Stock # |
R4407 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
65083107-65110160 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 65103040 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 438
(A438V)
|
| 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 damaging
Transcript: ENSMUST00000120580
AA Change: A438V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112953
Gene: ENSMUSG00000035597
AA Change: A438V
| 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 |
noncoding transcript
Transcript: ENSMUST00000222154
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223315
|
| Meta Mutation Damage Score |
0.6869 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
100% (61/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830035A12Rik |
T |
C |
11: 107,422,881 (GRCm39) |
|
noncoding transcript |
Het |
| Bbs10 |
A |
G |
10: 111,135,720 (GRCm39) |
T278A |
probably benign |
Het |
| Bcl6b |
A |
G |
11: 70,116,929 (GRCm39) |
L450P |
probably damaging |
Het |
| Braf |
T |
G |
6: 39,592,654 (GRCm39) |
K674Q |
probably damaging |
Het |
| Cep112 |
C |
T |
11: 108,410,027 (GRCm39) |
T481I |
possibly damaging |
Het |
| Cep135 |
T |
A |
5: 76,772,514 (GRCm39) |
M633K |
probably benign |
Het |
| Cpped1 |
T |
C |
16: 11,623,285 (GRCm39) |
Y278C |
probably damaging |
Het |
| Depdc5 |
T |
A |
5: 33,061,878 (GRCm39) |
|
probably null |
Het |
| Dolpp1 |
C |
T |
2: 30,286,464 (GRCm39) |
A128V |
possibly damaging |
Het |
| E2f5 |
T |
A |
3: 14,668,823 (GRCm39) |
D238E |
probably benign |
Het |
| Fat4 |
A |
T |
3: 39,012,689 (GRCm39) |
D2328V |
probably benign |
Het |
| Fbln1 |
T |
A |
15: 85,115,757 (GRCm39) |
|
probably null |
Het |
| Fkbp3 |
T |
C |
12: 65,116,778 (GRCm39) |
T53A |
probably damaging |
Het |
| Flg2 |
G |
T |
3: 93,122,176 (GRCm39) |
G1449C |
unknown |
Het |
| G530012D18Rik |
G |
C |
1: 85,504,923 (GRCm39) |
|
probably benign |
Het |
| Glyctk |
A |
T |
9: 106,034,307 (GRCm39) |
|
probably benign |
Het |
| Gm6430 |
T |
C |
1: 96,953,297 (GRCm39) |
|
noncoding transcript |
Het |
| Golga1 |
C |
A |
2: 38,909,653 (GRCm39) |
|
probably null |
Het |
| Gucy2g |
A |
T |
19: 55,226,269 (GRCm39) |
F216I |
probably benign |
Het |
| L3mbtl3 |
A |
G |
10: 26,189,782 (GRCm39) |
V494A |
unknown |
Het |
| Lama2 |
AATCAGACAGGAG |
A |
10: 27,088,124 (GRCm39) |
|
probably benign |
Het |
| Lemd3 |
A |
T |
10: 120,761,335 (GRCm39) |
L907Q |
possibly damaging |
Het |
| Lrp2 |
A |
T |
2: 69,332,861 (GRCm39) |
V1552D |
probably damaging |
Het |
| Map3k12 |
T |
C |
15: 102,413,837 (GRCm39) |
T45A |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,524,664 (GRCm39) |
D665E |
probably damaging |
Het |
| Myof |
A |
G |
19: 37,911,426 (GRCm39) |
S1502P |
probably damaging |
Het |
| Or4p7 |
A |
T |
2: 88,222,427 (GRCm39) |
M279L |
probably benign |
Het |
| Pcdhac2 |
G |
T |
18: 37,277,499 (GRCm39) |
V160L |
probably benign |
Het |
| Pcnt |
T |
C |
10: 76,210,704 (GRCm39) |
E2473G |
possibly damaging |
Het |
| Pitpnm2 |
T |
A |
5: 124,290,678 (GRCm39) |
I3L |
possibly damaging |
Het |
| Prkd3 |
C |
A |
17: 79,290,987 (GRCm39) |
W176L |
probably damaging |
Het |
| Rpgrip1 |
T |
A |
14: 52,384,856 (GRCm39) |
F655I |
probably damaging |
Het |
| Rrp12 |
T |
C |
19: 41,880,990 (GRCm39) |
Y147C |
probably damaging |
Het |
| Sec23b |
A |
T |
2: 144,416,638 (GRCm39) |
N429Y |
possibly damaging |
Het |
| Slc2a10 |
T |
A |
2: 165,356,684 (GRCm39) |
S115T |
probably damaging |
Het |
| Spg11 |
A |
C |
2: 121,905,813 (GRCm39) |
D1277E |
probably benign |
Het |
| Sspo |
A |
G |
6: 48,437,454 (GRCm39) |
D1279G |
probably damaging |
Het |
| St18 |
T |
C |
1: 6,898,061 (GRCm39) |
I621T |
probably benign |
Het |
| Tbc1d31 |
T |
A |
15: 57,783,438 (GRCm39) |
D112E |
possibly damaging |
Het |
| Tdpoz6 |
C |
A |
3: 93,599,419 (GRCm39) |
V317L |
probably benign |
Het |
| Tgm4 |
A |
T |
9: 122,885,595 (GRCm39) |
D379V |
probably damaging |
Het |
| Thyn1 |
A |
T |
9: 26,914,893 (GRCm39) |
D15V |
possibly damaging |
Het |
| Timd6 |
A |
G |
11: 46,468,207 (GRCm39) |
T94A |
probably damaging |
Het |
| Tm4sf19 |
T |
C |
16: 32,226,712 (GRCm39) |
V167A |
possibly damaging |
Het |
| Trim38 |
A |
C |
13: 23,975,474 (GRCm39) |
Q471P |
probably benign |
Het |
| Trmt1 |
T |
A |
8: 85,424,384 (GRCm39) |
|
probably benign |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Usp9y |
T |
C |
Y: 1,336,375 (GRCm39) |
I1500V |
probably benign |
Het |
| Vgll4 |
C |
T |
6: 114,867,573 (GRCm39) |
|
probably null |
Het |
| Vmn1r173 |
T |
A |
7: 23,402,441 (GRCm39) |
N225K |
probably damaging |
Het |
| Vmn2r22 |
C |
T |
6: 123,614,913 (GRCm39) |
G226R |
probably damaging |
Het |
| Wnk3 |
C |
A |
X: 150,016,209 (GRCm39) |
P555Q |
probably benign |
Het |
| Yes1 |
T |
G |
5: 32,797,929 (GRCm39) |
Y83D |
possibly damaging |
Het |
| Zdhhc15 |
G |
A |
X: 103,604,294 (GRCm39) |
R322* |
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 |
|
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 |
|
|
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'- CTAAGAGCAGCTGTAGACAGTAC -3'
(R):5'- TTCGATTGCTTCCAAAAGTACC -3'
Sequencing Primer
(F):5'- CAAAATAAGTAAGCATGGGTGTTTAC -3'
(R):5'- AAAGATGTCGGGCTAGTTTGATAGC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation