Incidental Mutation 'IGL02025:Prpf40b'
| ID |
184126 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Prpf40b
|
| Ensembl Gene |
ENSMUSG00000023007 |
| Gene Name |
pre-mRNA processing factor 40B |
| Synonyms |
2610317D23Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.167)
|
| Stock # |
IGL02025
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
99192968-99214899 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 99212469 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 571
(F571S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115869
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023745]
[ENSMUST00000081224]
[ENSMUST00000088233]
[ENSMUST00000118287]
[ENSMUST00000120633]
[ENSMUST00000126955]
[ENSMUST00000145482]
[ENSMUST00000136980]
[ENSMUST00000150636]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023745
AA Change: F571S
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000023745
Gene: ENSMUSG00000023007
AA Change: F571S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
28 |
52 |
N/A |
INTRINSIC |
|
low complexity region
|
56 |
87 |
N/A |
INTRINSIC |
|
WW
|
93 |
125 |
7.6e-9 |
SMART |
|
WW
|
134 |
166 |
1.75e-8 |
SMART |
|
low complexity region
|
182 |
212 |
N/A |
INTRINSIC |
|
low complexity region
|
255 |
267 |
N/A |
INTRINSIC |
|
FF
|
276 |
330 |
2.36e-14 |
SMART |
|
FF
|
410 |
470 |
6.94e-3 |
SMART |
|
FF
|
490 |
550 |
1.41e0 |
SMART |
|
low complexity region
|
557 |
568 |
N/A |
INTRINSIC |
|
FF
|
626 |
682 |
3.41e-11 |
SMART |
|
low complexity region
|
693 |
776 |
N/A |
INTRINSIC |
|
low complexity region
|
777 |
796 |
N/A |
INTRINSIC |
|
low complexity region
|
809 |
825 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081224
|
| SMART Domains |
Protein: ENSMUSP00000079984
Gene: ENSMUSG00000023008
| Domain | Start | End | E-Value | Type |
|---|
|
Drf_GBD
|
26 |
227 |
2.99e-88 |
SMART |
|
Drf_FH3
|
230 |
421 |
6.1e-71 |
SMART |
|
low complexity region
|
448 |
497 |
N/A |
INTRINSIC |
|
FH2
|
510 |
944 |
9.85e-141 |
SMART |
|
low complexity region
|
960 |
975 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088233
|
| SMART Domains |
Protein: ENSMUSP00000085566
Gene: ENSMUSG00000023008
| Domain | Start | End | E-Value | Type |
|---|
|
Drf_GBD
|
26 |
278 |
3.91e-92 |
SMART |
|
Drf_FH3
|
281 |
472 |
6.1e-71 |
SMART |
|
low complexity region
|
499 |
548 |
N/A |
INTRINSIC |
|
FH2
|
561 |
995 |
9.85e-141 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118287
AA Change: F571S
PolyPhen 2
Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000113282
Gene: ENSMUSG00000023007
AA Change: F571S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
28 |
52 |
N/A |
INTRINSIC |
|
low complexity region
|
56 |
87 |
N/A |
INTRINSIC |
|
WW
|
93 |
125 |
7.6e-9 |
SMART |
|
WW
|
134 |
166 |
1.75e-8 |
SMART |
|
low complexity region
|
182 |
212 |
N/A |
INTRINSIC |
|
low complexity region
|
255 |
267 |
N/A |
INTRINSIC |
|
FF
|
276 |
330 |
2.36e-14 |
SMART |
|
FF
|
410 |
470 |
6.94e-3 |
SMART |
|
FF
|
490 |
550 |
1.41e0 |
SMART |
|
low complexity region
|
557 |
568 |
N/A |
INTRINSIC |
|
FF
|
626 |
682 |
3.41e-11 |
SMART |
|
low complexity region
|
694 |
777 |
N/A |
INTRINSIC |
|
low complexity region
|
778 |
797 |
N/A |
INTRINSIC |
|
low complexity region
|
810 |
826 |
N/A |
INTRINSIC |
|
low complexity region
|
845 |
866 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120633
|
| SMART Domains |
Protein: ENSMUSP00000113094
Gene: ENSMUSG00000023008
| Domain | Start | End | E-Value | Type |
|---|
|
Drf_GBD
|
26 |
278 |
3.91e-92 |
SMART |
|
Drf_FH3
|
281 |
472 |
6.1e-71 |
SMART |
|
low complexity region
|
499 |
548 |
N/A |
INTRINSIC |
|
FH2
|
561 |
995 |
9.85e-141 |
SMART |
|
low complexity region
|
1011 |
1026 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124275
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126955
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000145482
AA Change: F571S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115869
Gene: ENSMUSG00000023007
AA Change: F571S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
28 |
52 |
N/A |
INTRINSIC |
|
low complexity region
|
56 |
87 |
N/A |
INTRINSIC |
|
WW
|
93 |
125 |
7.6e-9 |
SMART |
|
WW
|
134 |
166 |
1.75e-8 |
SMART |
|
low complexity region
|
182 |
212 |
N/A |
INTRINSIC |
|
low complexity region
|
255 |
267 |
N/A |
INTRINSIC |
|
FF
|
276 |
330 |
2.36e-14 |
SMART |
|
FF
|
410 |
470 |
6.94e-3 |
SMART |
|
FF
|
490 |
550 |
1.41e0 |
SMART |
|
low complexity region
|
557 |
568 |
N/A |
INTRINSIC |
|
FF
|
626 |
682 |
3.41e-11 |
SMART |
|
low complexity region
|
693 |
708 |
N/A |
INTRINSIC |
|
low complexity region
|
719 |
780 |
N/A |
INTRINSIC |
|
low complexity region
|
781 |
800 |
N/A |
INTRINSIC |
|
low complexity region
|
813 |
829 |
N/A |
INTRINSIC |
|
low complexity region
|
848 |
869 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136980
|
| SMART Domains |
Protein: ENSMUSP00000122649
Gene: ENSMUSG00000023007
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
22 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
50 |
81 |
N/A |
INTRINSIC |
|
WW
|
87 |
119 |
7.6e-9 |
SMART |
|
WW
|
128 |
160 |
1.75e-8 |
SMART |
|
low complexity region
|
176 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
249 |
261 |
N/A |
INTRINSIC |
|
FF
|
270 |
324 |
2.36e-14 |
SMART |
|
FF
|
404 |
464 |
6.94e-3 |
SMART |
|
FF
|
484 |
544 |
1.41e0 |
SMART |
|
FF
|
613 |
669 |
3.41e-11 |
SMART |
|
low complexity region
|
681 |
764 |
N/A |
INTRINSIC |
|
low complexity region
|
765 |
784 |
N/A |
INTRINSIC |
|
low complexity region
|
797 |
813 |
N/A |
INTRINSIC |
|
low complexity region
|
832 |
853 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139330
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138036
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150641
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130575
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153692
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134034
|
| SMART Domains |
Protein: ENSMUSP00000120030
Gene: ENSMUSG00000023007
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FF
|
11 |
62 |
2.2e-7 |
PFAM |
|
low complexity region
|
77 |
92 |
N/A |
INTRINSIC |
|
low complexity region
|
103 |
164 |
N/A |
INTRINSIC |
|
low complexity region
|
165 |
184 |
N/A |
INTRINSIC |
|
low complexity region
|
197 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
232 |
253 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150636
|
| SMART Domains |
Protein: ENSMUSP00000119295
Gene: ENSMUSG00000023007
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FF
|
1 |
52 |
1.2e-7 |
PFAM |
|
low complexity region
|
67 |
82 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a WW-domain containing protein similar to yeast splicing factor PRP40. This protein has been shown to interact with Huntingtin and methyl CpG binding protein 2 (MeCP2). Alternative splicing results in different transcript variants. [provided by RefSeq, Aug 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afap1l1 |
T |
C |
18: 61,866,770 (GRCm39) |
|
probably benign |
Het |
| Akap6 |
A |
G |
12: 53,187,118 (GRCm39) |
T1511A |
probably benign |
Het |
| Casp8 |
A |
C |
1: 58,863,306 (GRCm39) |
I69L |
possibly damaging |
Het |
| Cdh23 |
T |
C |
10: 60,220,922 (GRCm39) |
E1274G |
probably damaging |
Het |
| Cfap47 |
A |
T |
X: 78,554,036 (GRCm39) |
S230R |
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Depdc5 |
A |
G |
5: 33,103,976 (GRCm39) |
|
probably null |
Het |
| Dock5 |
A |
G |
14: 68,000,736 (GRCm39) |
S1656P |
probably damaging |
Het |
| Dock6 |
A |
G |
9: 21,720,885 (GRCm39) |
S1707P |
probably damaging |
Het |
| Eddm3b |
T |
A |
14: 51,354,228 (GRCm39) |
V72D |
probably damaging |
Het |
| Etl4 |
A |
G |
2: 20,811,337 (GRCm39) |
D1508G |
probably damaging |
Het |
| Gm20489 |
A |
C |
X: 100,307,290 (GRCm39) |
V21G |
probably damaging |
Het |
| Il16 |
T |
C |
7: 83,302,056 (GRCm39) |
N22S |
probably damaging |
Het |
| Ksr1 |
T |
C |
11: 78,912,276 (GRCm39) |
|
probably null |
Het |
| Lrrc32 |
C |
T |
7: 98,148,767 (GRCm39) |
R516C |
probably benign |
Het |
| Naa25 |
T |
C |
5: 121,577,928 (GRCm39) |
V945A |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,197,751 (GRCm39) |
T501A |
probably benign |
Het |
| Npnt |
A |
C |
3: 132,596,523 (GRCm39) |
|
probably null |
Het |
| Nr1h5 |
G |
A |
3: 102,856,942 (GRCm39) |
|
probably benign |
Het |
| Opalin |
T |
C |
19: 41,060,674 (GRCm39) |
|
probably benign |
Het |
| Or10ak9 |
G |
A |
4: 118,726,362 (GRCm39) |
C127Y |
probably damaging |
Het |
| Or2w6 |
A |
G |
13: 21,843,433 (GRCm39) |
V20A |
possibly damaging |
Het |
| Or9s13 |
A |
G |
1: 92,548,269 (GRCm39) |
I214V |
probably benign |
Het |
| Pls3 |
A |
T |
X: 74,840,101 (GRCm39) |
L341H |
probably damaging |
Het |
| Pnp2 |
T |
A |
14: 51,197,010 (GRCm39) |
L32H |
probably damaging |
Het |
| Prss16 |
A |
G |
13: 22,187,191 (GRCm39) |
S460P |
probably damaging |
Het |
| Sh3bp4 |
T |
C |
1: 89,073,008 (GRCm39) |
S619P |
probably benign |
Het |
| Sirpb1b |
C |
T |
3: 15,613,863 (GRCm39) |
R73Q |
probably damaging |
Het |
| Slc22a8 |
G |
A |
19: 8,571,539 (GRCm39) |
G90E |
possibly damaging |
Het |
| Tbc1d2 |
G |
A |
4: 46,620,713 (GRCm39) |
R366W |
probably damaging |
Het |
| Tns2 |
T |
A |
15: 102,020,484 (GRCm39) |
Y783* |
probably null |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
| Zfp7 |
C |
T |
15: 76,772,464 (GRCm39) |
S55F |
probably damaging |
Het |
|
| Other mutations in Prpf40b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00688:Prpf40b
|
APN |
15 |
99,214,012 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL00821:Prpf40b
|
APN |
15 |
99,214,382 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL00949:Prpf40b
|
APN |
15 |
99,204,419 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01621:Prpf40b
|
APN |
15 |
99,207,926 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01816:Prpf40b
|
APN |
15 |
99,213,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01878:Prpf40b
|
APN |
15 |
99,204,413 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL01886:Prpf40b
|
APN |
15 |
99,202,328 (GRCm39) |
missense |
unknown |
|
|
IGL02440:Prpf40b
|
APN |
15 |
99,204,747 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0101:Prpf40b
|
UTSW |
15 |
99,204,681 (GRCm39) |
splice site |
probably benign |
|
|
R0284:Prpf40b
|
UTSW |
15 |
99,214,274 (GRCm39) |
splice site |
probably benign |
|
|
R0356:Prpf40b
|
UTSW |
15 |
99,203,080 (GRCm39) |
splice site |
probably null |
|
|
R0602:Prpf40b
|
UTSW |
15 |
99,202,352 (GRCm39) |
missense |
unknown |
|
|
R0632:Prpf40b
|
UTSW |
15 |
99,214,170 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1220:Prpf40b
|
UTSW |
15 |
99,214,229 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1660:Prpf40b
|
UTSW |
15 |
99,203,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2224:Prpf40b
|
UTSW |
15 |
99,201,172 (GRCm39) |
start gained |
probably benign |
|
|
R2245:Prpf40b
|
UTSW |
15 |
99,203,047 (GRCm39) |
intron |
probably benign |
|
|
R2342:Prpf40b
|
UTSW |
15 |
99,204,049 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4019:Prpf40b
|
UTSW |
15 |
99,214,357 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4449:Prpf40b
|
UTSW |
15 |
99,212,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4622:Prpf40b
|
UTSW |
15 |
99,214,197 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4869:Prpf40b
|
UTSW |
15 |
99,207,726 (GRCm39) |
intron |
probably benign |
|
|
R5960:Prpf40b
|
UTSW |
15 |
99,212,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6734:Prpf40b
|
UTSW |
15 |
99,212,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6735:Prpf40b
|
UTSW |
15 |
99,212,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6776:Prpf40b
|
UTSW |
15 |
99,212,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6783:Prpf40b
|
UTSW |
15 |
99,212,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7025:Prpf40b
|
UTSW |
15 |
99,204,281 (GRCm39) |
nonsense |
probably null |
|
|
R7544:Prpf40b
|
UTSW |
15 |
99,203,899 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7733:Prpf40b
|
UTSW |
15 |
99,206,224 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8133:Prpf40b
|
UTSW |
15 |
99,202,319 (GRCm39) |
missense |
unknown |
|
|
R8193:Prpf40b
|
UTSW |
15 |
99,201,949 (GRCm39) |
missense |
unknown |
|
|
R8248:Prpf40b
|
UTSW |
15 |
99,214,166 (GRCm39) |
missense |
unknown |
|
|
R8669:Prpf40b
|
UTSW |
15 |
99,201,228 (GRCm39) |
start codon destroyed |
probably null |
|
|
R8670:Prpf40b
|
UTSW |
15 |
99,207,621 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9191:Prpf40b
|
UTSW |
15 |
99,202,064 (GRCm39) |
missense |
probably null |
|
|
X0019:Prpf40b
|
UTSW |
15 |
99,205,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation