Incidental Mutation 'IGL00834:Prpf39'
ID |
13181 |
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 # |
IGL00834
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
65083107-65110160 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 65090037 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 117
(D117G)
|
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 damaging
Transcript: ENSMUST00000120580
AA Change: D117G
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000112953 Gene: ENSMUSG00000035597 AA Change: D117G
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 damaging
Transcript: ENSMUST00000129956
AA Change: D117G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000114713 Gene: ENSMUSG00000035597 AA Change: D117G
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1c20 |
A |
G |
13: 4,562,664 (GRCm39) |
|
probably null |
Het |
Alg5 |
T |
C |
3: 54,652,140 (GRCm39) |
|
probably benign |
Het |
App |
A |
T |
16: 84,762,599 (GRCm39) |
F675I |
probably damaging |
Het |
Atad1 |
C |
A |
19: 32,675,968 (GRCm39) |
C152F |
probably benign |
Het |
Atp2a3 |
A |
C |
11: 72,873,613 (GRCm39) |
I829L |
probably damaging |
Het |
B3galt1 |
C |
T |
2: 67,949,050 (GRCm39) |
S255L |
probably damaging |
Het |
Bptf |
A |
G |
11: 106,964,754 (GRCm39) |
V1417A |
possibly damaging |
Het |
Cast |
T |
A |
13: 74,885,093 (GRCm39) |
T219S |
probably damaging |
Het |
Cep95 |
A |
T |
11: 106,709,043 (GRCm39) |
I705F |
probably damaging |
Het |
Cnot3 |
C |
T |
7: 3,653,854 (GRCm39) |
A2V |
probably damaging |
Het |
Col1a1 |
A |
G |
11: 94,840,204 (GRCm39) |
D1084G |
unknown |
Het |
Col5a3 |
G |
A |
9: 20,697,685 (GRCm39) |
Q873* |
probably null |
Het |
Cubn |
C |
T |
2: 13,386,738 (GRCm39) |
G1509D |
probably damaging |
Het |
Defb10 |
T |
A |
8: 22,351,952 (GRCm39) |
C66S |
possibly damaging |
Het |
Dennd4b |
T |
C |
3: 90,186,993 (GRCm39) |
|
probably null |
Het |
Dido1 |
G |
A |
2: 180,331,319 (GRCm39) |
T43M |
possibly damaging |
Het |
Hmcn1 |
C |
T |
1: 150,506,091 (GRCm39) |
V3812I |
probably benign |
Het |
Islr2 |
T |
C |
9: 58,107,069 (GRCm39) |
T64A |
probably benign |
Het |
Kif2b |
A |
T |
11: 91,467,206 (GRCm39) |
I359N |
probably damaging |
Het |
Kit |
A |
C |
5: 75,806,619 (GRCm39) |
N704T |
probably damaging |
Het |
Ksr1 |
A |
G |
11: 78,918,343 (GRCm39) |
F604L |
probably damaging |
Het |
Lrp5 |
A |
T |
19: 3,699,404 (GRCm39) |
F294I |
probably benign |
Het |
Lrrn1 |
A |
G |
6: 107,545,269 (GRCm39) |
T356A |
probably benign |
Het |
Mrps17 |
G |
A |
5: 129,793,829 (GRCm39) |
V8I |
probably benign |
Het |
Nop56 |
T |
A |
2: 130,117,915 (GRCm39) |
H130Q |
possibly damaging |
Het |
Plg |
T |
A |
17: 12,630,380 (GRCm39) |
L639Q |
probably damaging |
Het |
Ppcdc |
A |
G |
9: 57,322,423 (GRCm39) |
F159L |
probably benign |
Het |
Ppp1ca |
A |
G |
19: 4,244,519 (GRCm39) |
T193A |
probably benign |
Het |
Ranbp2 |
C |
A |
10: 58,289,145 (GRCm39) |
T51K |
possibly damaging |
Het |
Sytl2 |
A |
G |
7: 90,031,844 (GRCm39) |
|
probably benign |
Het |
Tenm2 |
T |
A |
11: 35,915,085 (GRCm39) |
I2150F |
probably damaging |
Het |
Wdr11 |
T |
G |
7: 129,194,817 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Prpf39 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
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 |
2012-12-06 |