Incidental Mutation 'IGL01025:Prpf39'
ID |
60254 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Prpf39
|
Ensembl Gene |
ENSMUSG00000035597 |
Gene Name |
pre-mRNA processing factor 39 |
Synonyms |
Srcs1 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.952)
|
Stock # |
IGL01025
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
65083107-65110160 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 65089255 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152756
(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
|
SMART Domains |
Protein: ENSMUSP00000112953 Gene: ENSMUSG00000035597
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: 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
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap3 |
G |
A |
4: 155,986,676 (GRCm39) |
V335M |
probably damaging |
Het |
Apex1 |
C |
T |
14: 51,163,711 (GRCm39) |
L113F |
possibly damaging |
Het |
Bltp1 |
T |
A |
3: 37,100,429 (GRCm39) |
H1218Q |
possibly damaging |
Het |
Cd33 |
C |
T |
7: 43,182,329 (GRCm39) |
V39M |
probably damaging |
Het |
Chek2 |
A |
G |
5: 110,996,536 (GRCm39) |
D166G |
probably damaging |
Het |
Col2a1 |
T |
C |
15: 97,874,054 (GRCm39) |
K1376R |
unknown |
Het |
Cpd |
C |
T |
11: 76,686,439 (GRCm39) |
R963H |
probably damaging |
Het |
Cracd |
A |
G |
5: 76,805,921 (GRCm39) |
|
probably benign |
Het |
Cyp2c67 |
A |
C |
19: 39,628,376 (GRCm39) |
Y189* |
probably null |
Het |
Dock6 |
T |
C |
9: 21,723,103 (GRCm39) |
E1606G |
possibly damaging |
Het |
Dusp4 |
A |
T |
8: 35,285,666 (GRCm39) |
E309V |
probably benign |
Het |
Dync2h1 |
A |
G |
9: 7,162,789 (GRCm39) |
I600T |
probably damaging |
Het |
Fer1l4 |
A |
G |
2: 155,894,105 (GRCm39) |
V66A |
probably benign |
Het |
Fktn |
T |
C |
4: 53,737,568 (GRCm39) |
L269P |
possibly damaging |
Het |
Ftsj3 |
A |
G |
11: 106,141,185 (GRCm39) |
I645T |
probably damaging |
Het |
Fxr2 |
A |
G |
11: 69,534,713 (GRCm39) |
H198R |
probably damaging |
Het |
Fzd7 |
T |
C |
1: 59,523,539 (GRCm39) |
V474A |
probably damaging |
Het |
Gm10295 |
T |
A |
7: 71,000,406 (GRCm39) |
D58V |
unknown |
Het |
Hdlbp |
T |
C |
1: 93,357,891 (GRCm39) |
I337V |
probably benign |
Het |
Hydin |
T |
C |
8: 111,053,033 (GRCm39) |
V235A |
probably benign |
Het |
Igfbp4 |
C |
T |
11: 98,939,069 (GRCm39) |
H30Y |
probably damaging |
Het |
Kcna4 |
T |
C |
2: 107,126,736 (GRCm39) |
V490A |
probably damaging |
Het |
Kcnj13 |
T |
G |
1: 87,314,700 (GRCm39) |
D174A |
probably benign |
Het |
Krt7 |
T |
A |
15: 101,321,302 (GRCm39) |
L373Q |
probably benign |
Het |
Lama3 |
G |
A |
18: 12,614,094 (GRCm39) |
V1288I |
probably benign |
Het |
Mroh9 |
T |
C |
1: 162,875,435 (GRCm39) |
D488G |
possibly damaging |
Het |
Myh7 |
T |
C |
14: 55,216,994 (GRCm39) |
E1121G |
probably damaging |
Het |
Myom1 |
A |
G |
17: 71,384,912 (GRCm39) |
N768D |
probably damaging |
Het |
Naa16 |
T |
C |
14: 79,622,196 (GRCm39) |
T48A |
probably damaging |
Het |
Naglu |
C |
T |
11: 100,964,773 (GRCm39) |
P287S |
probably benign |
Het |
Nipbl |
A |
G |
15: 8,379,939 (GRCm39) |
V951A |
possibly damaging |
Het |
Nlrp3 |
T |
A |
11: 59,442,713 (GRCm39) |
M755K |
probably benign |
Het |
Nlrp4e |
T |
C |
7: 23,052,586 (GRCm39) |
|
probably benign |
Het |
Nt5dc1 |
C |
T |
10: 34,283,553 (GRCm39) |
A79T |
possibly damaging |
Het |
Or10aa3 |
T |
C |
1: 173,878,251 (GRCm39) |
F104S |
probably damaging |
Het |
Or6c205 |
A |
T |
10: 129,086,609 (GRCm39) |
I69F |
possibly damaging |
Het |
Or8b47 |
A |
G |
9: 38,435,029 (GRCm39) |
|
probably benign |
Het |
Otof |
A |
G |
5: 30,541,597 (GRCm39) |
L774P |
possibly damaging |
Het |
Phf20l1 |
C |
T |
15: 66,484,981 (GRCm39) |
R322C |
probably damaging |
Het |
Pkhd1 |
C |
T |
1: 20,279,400 (GRCm39) |
G2973R |
probably benign |
Het |
Plekhg5 |
G |
T |
4: 152,192,983 (GRCm39) |
D613Y |
probably damaging |
Het |
Ppm1h |
T |
A |
10: 122,714,534 (GRCm39) |
|
probably null |
Het |
Pramel31 |
T |
A |
4: 144,089,947 (GRCm39) |
L329Q |
probably damaging |
Het |
Rtn3 |
A |
G |
19: 7,460,406 (GRCm39) |
S15P |
unknown |
Het |
Slc22a28 |
G |
T |
19: 8,094,272 (GRCm39) |
|
probably benign |
Het |
Slc4a5 |
T |
A |
6: 83,239,515 (GRCm39) |
L143Q |
probably damaging |
Het |
Sox17 |
T |
C |
1: 4,562,426 (GRCm39) |
D130G |
possibly damaging |
Het |
Stag1 |
A |
G |
9: 100,833,710 (GRCm39) |
T1108A |
possibly damaging |
Het |
Sugp2 |
G |
A |
8: 70,695,185 (GRCm39) |
D53N |
probably damaging |
Het |
Trim33 |
G |
A |
3: 103,261,234 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
G |
2: 76,629,568 (GRCm39) |
I14291T |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,619,869 (GRCm39) |
V15933A |
probably damaging |
Het |
Tulp3 |
A |
C |
6: 128,302,847 (GRCm39) |
I324S |
probably damaging |
Het |
Zfhx2 |
T |
C |
14: 55,301,717 (GRCm39) |
E2089G |
probably damaging |
Het |
Zhx1 |
T |
C |
15: 57,918,075 (GRCm39) |
D57G |
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 |
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 |
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 |
|
Posted On |
2013-07-11 |