Incidental Mutation 'R3980:Prpf39'
ID |
311280 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prpf39
|
Ensembl Gene |
ENSMUSG00000035597 |
Gene Name |
pre-mRNA processing factor 39 |
Synonyms |
Srcs1 |
MMRRC Submission |
040843-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.947)
|
Stock # |
R3980 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
65083107-65110160 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 65108231 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152380
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021332]
[ENSMUST00000120580]
[ENSMUST00000129956]
[ENSMUST00000220730]
[ENSMUST00000221913]
[ENSMUST00000221166]
|
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 |
unknown
Transcript: ENSMUST00000120580
AA Change: Y659H
|
SMART Domains |
Protein: ENSMUSP00000112953 Gene: ENSMUSG00000035597 AA Change: Y659H
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 |
probably benign
Transcript: ENSMUST00000220730
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220798
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221710
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220983
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000221913
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220957
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222154
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000221608
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000221166
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222684
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223167
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb1 |
G |
A |
15: 74,454,792 (GRCm39) |
G268R |
probably damaging |
Het |
Amacr |
T |
A |
15: 10,989,015 (GRCm39) |
Y240* |
probably null |
Het |
Ankhd1 |
A |
T |
18: 36,780,666 (GRCm39) |
H1906L |
probably damaging |
Het |
Arhgef25 |
C |
A |
10: 127,023,089 (GRCm39) |
C106F |
probably damaging |
Het |
Bean1 |
A |
T |
8: 104,937,730 (GRCm39) |
Q103L |
possibly damaging |
Het |
Ccr9 |
A |
T |
9: 123,608,441 (GRCm39) |
N41I |
probably benign |
Het |
Ceacam16 |
A |
G |
7: 19,592,558 (GRCm39) |
F117L |
probably benign |
Het |
Col4a1 |
T |
C |
8: 11,289,155 (GRCm39) |
|
probably benign |
Het |
Csk |
A |
G |
9: 57,538,063 (GRCm39) |
Y48H |
probably damaging |
Het |
Csmd1 |
T |
A |
8: 15,956,056 (GRCm39) |
K3384* |
probably null |
Het |
Ctnnd2 |
T |
A |
15: 30,669,589 (GRCm39) |
H399Q |
probably benign |
Het |
Cutal |
T |
C |
2: 34,772,325 (GRCm39) |
Y30H |
possibly damaging |
Het |
Cybb |
T |
C |
X: 9,310,827 (GRCm39) |
Y425C |
probably damaging |
Het |
Dab2 |
A |
G |
15: 6,464,644 (GRCm39) |
|
probably null |
Het |
Defb30 |
C |
A |
14: 63,273,421 (GRCm39) |
C64F |
probably damaging |
Het |
Eif2a |
T |
C |
3: 58,446,960 (GRCm39) |
I45T |
probably benign |
Het |
Esyt1 |
T |
A |
10: 128,347,393 (GRCm39) |
D1044V |
probably damaging |
Het |
Gabpb2 |
A |
T |
3: 95,096,081 (GRCm39) |
V382E |
probably damaging |
Het |
Glb1 |
T |
A |
9: 114,246,132 (GRCm39) |
I61K |
probably damaging |
Het |
Insyn2b |
G |
A |
11: 34,352,678 (GRCm39) |
C240Y |
probably benign |
Het |
Kcnt1 |
T |
C |
2: 25,783,226 (GRCm39) |
V263A |
possibly damaging |
Het |
Kdm5b |
A |
G |
1: 134,547,408 (GRCm39) |
D1019G |
probably benign |
Het |
Klhl2 |
A |
T |
8: 65,196,109 (GRCm39) |
L545M |
probably damaging |
Het |
Klhl2 |
C |
A |
8: 65,196,115 (GRCm39) |
G543C |
probably damaging |
Het |
Krt31 |
G |
T |
11: 99,939,030 (GRCm39) |
Q264K |
probably damaging |
Het |
Lmnb1 |
A |
G |
18: 56,864,091 (GRCm39) |
D232G |
probably damaging |
Het |
Loxhd1 |
T |
C |
18: 77,501,855 (GRCm39) |
F859L |
probably damaging |
Het |
Map7 |
C |
A |
10: 20,143,099 (GRCm39) |
T416K |
unknown |
Het |
Med18 |
T |
A |
4: 132,190,251 (GRCm39) |
I45F |
probably benign |
Het |
Mn1 |
A |
T |
5: 111,569,636 (GRCm39) |
H1202L |
possibly damaging |
Het |
Mpp7 |
T |
C |
18: 7,444,062 (GRCm39) |
D120G |
probably benign |
Het |
Nlrp1b |
A |
T |
11: 71,072,437 (GRCm39) |
F469I |
possibly damaging |
Het |
Nos3 |
T |
A |
5: 24,582,929 (GRCm39) |
D685E |
probably damaging |
Het |
Nrap |
G |
A |
19: 56,369,984 (GRCm39) |
A206V |
probably benign |
Het |
Nuggc |
T |
C |
14: 65,856,542 (GRCm39) |
|
probably null |
Het |
Oasl1 |
C |
T |
5: 115,070,957 (GRCm39) |
T274I |
probably damaging |
Het |
Or10ak12 |
T |
A |
4: 118,666,500 (GRCm39) |
Y187F |
probably benign |
Het |
Or51a25 |
T |
C |
7: 102,372,959 (GRCm39) |
N246S |
probably damaging |
Het |
Parp3 |
T |
C |
9: 106,351,267 (GRCm39) |
D278G |
probably damaging |
Het |
Phc3 |
T |
A |
3: 30,991,080 (GRCm39) |
Q346L |
probably damaging |
Het |
Pigo |
A |
G |
4: 43,019,231 (GRCm39) |
L1029P |
probably damaging |
Het |
Plcb3 |
A |
G |
19: 6,943,803 (GRCm39) |
I66T |
probably damaging |
Het |
Plch2 |
T |
C |
4: 155,069,255 (GRCm39) |
S1019G |
probably benign |
Het |
Plekhg6 |
C |
A |
6: 125,350,146 (GRCm39) |
C264F |
probably damaging |
Het |
Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
Pou4f2 |
G |
T |
8: 79,162,067 (GRCm39) |
H179N |
possibly damaging |
Het |
Rapgef1 |
G |
A |
2: 29,609,662 (GRCm39) |
V700I |
probably benign |
Het |
Rdh14 |
A |
G |
12: 10,444,703 (GRCm39) |
I185V |
probably benign |
Het |
Rnf111 |
A |
T |
9: 70,349,607 (GRCm39) |
H785Q |
probably damaging |
Het |
Rttn |
C |
T |
18: 89,035,399 (GRCm39) |
R758W |
probably benign |
Het |
Sik3 |
G |
A |
9: 46,113,361 (GRCm39) |
V601M |
probably damaging |
Het |
Slc22a14 |
T |
C |
9: 119,007,552 (GRCm39) |
T286A |
probably benign |
Het |
Slc36a3 |
G |
A |
11: 55,026,209 (GRCm39) |
T203I |
probably benign |
Het |
Spata31 |
A |
T |
13: 65,070,468 (GRCm39) |
Q872L |
probably benign |
Het |
Spata31d1c |
A |
G |
13: 65,182,974 (GRCm39) |
D172G |
possibly damaging |
Het |
Sphkap |
A |
T |
1: 83,245,215 (GRCm39) |
|
probably null |
Het |
Stat6 |
T |
C |
10: 127,491,248 (GRCm39) |
V463A |
probably damaging |
Het |
Stx7 |
T |
C |
10: 24,060,947 (GRCm39) |
S225P |
probably damaging |
Het |
Sult2a7 |
A |
T |
7: 14,207,334 (GRCm39) |
|
probably benign |
Het |
Tada2a |
A |
T |
11: 83,993,946 (GRCm39) |
F179L |
probably benign |
Het |
Tas2r103 |
A |
G |
6: 133,013,280 (GRCm39) |
L262P |
probably benign |
Het |
Tfap2d |
A |
G |
1: 19,236,187 (GRCm39) |
I382V |
possibly damaging |
Het |
Tshr |
C |
A |
12: 91,504,517 (GRCm39) |
A485D |
probably damaging |
Het |
Vmn1r32 |
T |
A |
6: 66,530,698 (GRCm39) |
Y26F |
probably damaging |
Het |
Vmn1r5 |
A |
G |
6: 56,962,636 (GRCm39) |
T104A |
probably damaging |
Het |
Wbp1l |
T |
A |
19: 46,642,396 (GRCm39) |
|
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 |
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'- ACTTACTCTGTGCACTGGGG -3'
(R):5'- TGAGCTGCAAAAGAATTCTAGACC -3'
Sequencing Primer
(F):5'- TGCACTGGGGGCTCTATAC -3'
(R):5'- TGGTAGGAAAGTTTCTATGATA -3'
|
Posted On |
2015-04-29 |