Incidental Mutation 'R6614:Prpf39'
| ID |
523858 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prpf39
|
| Ensembl Gene |
ENSMUSG00000035597 |
| Gene Name |
pre-mRNA processing factor 39 |
| Synonyms |
Srcs1 |
| MMRRC Submission |
044737-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.952)
|
| Stock # |
R6614 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
65083107-65110160 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 65089337 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 25
(V25G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114713
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120580]
[ENSMUST00000129956]
[ENSMUST00000223315]
[ENSMUST00000223341]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120580
AA Change: V25G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112953
Gene: ENSMUSG00000035597
AA Change: V25G
| 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
AA Change: V25G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000114713
Gene: ENSMUSG00000035597
AA Change: V25G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:HAT
|
107 |
139 |
7e-17 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220462
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220798
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222154
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223105
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223315
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223341
|
| Meta Mutation Damage Score |
0.0713 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.3%
|
| Validation Efficiency |
98% (46/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810004N23Rik |
T |
A |
8: 125,587,986 (GRCm39) |
|
probably null |
Het |
| Abca13 |
A |
T |
11: 9,244,371 (GRCm39) |
N2078I |
probably benign |
Het |
| Abcc2 |
A |
G |
19: 43,807,800 (GRCm39) |
I814V |
probably benign |
Het |
| Adamts4 |
A |
G |
1: 171,084,193 (GRCm39) |
R557G |
probably benign |
Het |
| Bltp3a |
T |
A |
17: 28,095,899 (GRCm39) |
I70N |
probably benign |
Het |
| Bysl |
A |
T |
17: 47,912,767 (GRCm39) |
L341Q |
probably damaging |
Het |
| Csmd1 |
C |
T |
8: 17,266,803 (GRCm39) |
G41D |
probably damaging |
Het |
| Dnah11 |
T |
C |
12: 117,850,411 (GRCm39) |
D4221G |
possibly damaging |
Het |
| Dnah7c |
C |
A |
1: 46,688,500 (GRCm39) |
T1890K |
probably benign |
Het |
| Dnah7c |
A |
G |
1: 46,688,511 (GRCm39) |
S1894G |
probably benign |
Het |
| Dnajc21 |
A |
G |
15: 10,470,349 (GRCm39) |
|
probably null |
Het |
| Elavl1 |
C |
A |
8: 4,339,818 (GRCm39) |
A255S |
probably damaging |
Het |
| Filip1 |
C |
T |
9: 79,723,121 (GRCm39) |
G1166D |
probably damaging |
Het |
| Gnptg |
T |
C |
17: 25,454,235 (GRCm39) |
Y184C |
probably damaging |
Het |
| Ifit3b |
A |
T |
19: 34,588,919 (GRCm39) |
S32C |
probably benign |
Het |
| Kcnh7 |
T |
G |
2: 62,607,940 (GRCm39) |
Y547S |
probably damaging |
Het |
| Lima1 |
G |
A |
15: 99,681,461 (GRCm39) |
A243V |
probably damaging |
Het |
| Mast3 |
T |
A |
8: 71,234,610 (GRCm39) |
I67F |
possibly damaging |
Het |
| Ncor1 |
A |
C |
11: 62,221,645 (GRCm39) |
M1283R |
probably benign |
Het |
| Ndufv1 |
G |
A |
19: 4,058,749 (GRCm39) |
T253I |
probably benign |
Het |
| Neurog1 |
G |
T |
13: 56,399,637 (GRCm39) |
Q37K |
probably benign |
Het |
| Nol4 |
T |
G |
18: 23,053,913 (GRCm39) |
K200Q |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,903,627 (GRCm39) |
H7599R |
probably benign |
Het |
| Oog4 |
A |
G |
4: 143,164,445 (GRCm39) |
V362A |
possibly damaging |
Het |
| Oosp1 |
T |
A |
19: 11,668,314 (GRCm39) |
D23V |
probably damaging |
Het |
| Or11a4 |
T |
C |
17: 37,536,790 (GRCm39) |
V258A |
probably benign |
Het |
| Or11g24 |
C |
T |
14: 50,662,546 (GRCm39) |
T190I |
probably benign |
Het |
| Or4k1 |
T |
A |
14: 50,377,821 (GRCm39) |
I92F |
probably damaging |
Het |
| Or4n4b |
T |
A |
14: 50,536,494 (GRCm39) |
I91L |
probably benign |
Het |
| Or7a41 |
C |
A |
10: 78,870,925 (GRCm39) |
C98* |
probably null |
Het |
| P2rx3 |
A |
G |
2: 84,865,543 (GRCm39) |
I34T |
probably damaging |
Het |
| Pate7 |
A |
G |
9: 35,688,421 (GRCm39) |
W55R |
probably damaging |
Het |
| Pla2g4a |
A |
T |
1: 149,717,986 (GRCm39) |
V621E |
probably benign |
Het |
| Psd |
T |
C |
19: 46,301,851 (GRCm39) |
K913E |
probably benign |
Het |
| Ptx4 |
A |
T |
17: 25,341,676 (GRCm39) |
R50S |
possibly damaging |
Het |
| Rex2 |
A |
T |
4: 147,137,018 (GRCm39) |
M16L |
probably benign |
Het |
| Serac1 |
A |
T |
17: 6,095,937 (GRCm39) |
V604E |
probably damaging |
Het |
| Sp140l2 |
A |
C |
1: 85,179,781 (GRCm39) |
|
probably null |
Het |
| Spata31h1 |
T |
A |
10: 82,127,482 (GRCm39) |
N1843Y |
probably benign |
Het |
| Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
| Stxbp6 |
T |
A |
12: 44,908,058 (GRCm39) |
T187S |
probably benign |
Het |
| Tg |
G |
A |
15: 66,607,108 (GRCm39) |
C215Y |
probably damaging |
Het |
| Top2b |
A |
T |
14: 16,407,142 (GRCm38) |
K671* |
probably null |
Het |
| Trmt1 |
G |
T |
8: 85,415,962 (GRCm39) |
V7L |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,615,174 (GRCm39) |
R15102H |
probably benign |
Het |
| Unc79 |
A |
T |
12: 102,957,689 (GRCm39) |
I35F |
probably 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 |
|
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 |
|
|
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'- GGTCATGACAAATAAGTTCACTAGC -3'
(R):5'- ATATACCCAGCCTGTAAAATCCTGAG -3'
Sequencing Primer
(F):5'- GTTCACTAGCATTTGGAAACCTTC -3'
(R):5'- TGAGGATTCATTTCTACTGTTTTCC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation