Incidental Mutation 'IGL02440:Prpf40b'
ID |
293433 |
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 # |
IGL02440
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
99192968-99214899 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 99204747 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 263
(S263P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122649
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023745]
[ENSMUST00000118287]
[ENSMUST00000128352]
[ENSMUST00000136980]
[ENSMUST00000145482]
[ENSMUST00000140806]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023745
AA Change: S269P
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000023745 Gene: ENSMUSG00000023007 AA Change: S269P
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 |
possibly damaging
Transcript: ENSMUST00000118287
AA Change: S269P
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000113282 Gene: ENSMUSG00000023007 AA Change: S269P
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: ENSMUST00000128352
|
SMART Domains |
Protein: ENSMUSP00000119556 Gene: ENSMUSG00000023007
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130575
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000136980
AA Change: S263P
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000122649 Gene: ENSMUSG00000023007 AA Change: S263P
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: ENSMUST00000138036
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000145482
AA Change: S269P
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000115869 Gene: ENSMUSG00000023007 AA Change: S269P
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 |
noncoding transcript
Transcript: ENSMUST00000139330
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150641
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153692
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140806
|
SMART Domains |
Protein: ENSMUSP00000121260 Gene: ENSMUSG00000023007
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 |
73 |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp8a1 |
A |
G |
5: 67,824,777 (GRCm39) |
|
probably benign |
Het |
Bmt2 |
C |
T |
6: 13,628,609 (GRCm39) |
R358Q |
probably damaging |
Het |
C2cd6 |
A |
G |
1: 59,114,259 (GRCm39) |
I182T |
probably benign |
Het |
Calr3 |
T |
C |
8: 73,185,276 (GRCm39) |
T100A |
probably benign |
Het |
Cln3 |
T |
C |
7: 126,181,954 (GRCm39) |
K36R |
probably benign |
Het |
Ddx25 |
C |
T |
9: 35,468,974 (GRCm39) |
|
probably benign |
Het |
Dmxl2 |
A |
T |
9: 54,313,899 (GRCm39) |
V1677E |
probably damaging |
Het |
Dnah10 |
A |
G |
5: 124,850,883 (GRCm39) |
E1684G |
probably damaging |
Het |
Dnah9 |
A |
G |
11: 65,846,072 (GRCm39) |
S2989P |
probably damaging |
Het |
F5 |
A |
T |
1: 164,034,635 (GRCm39) |
T1845S |
possibly damaging |
Het |
Folh1 |
G |
T |
7: 86,383,312 (GRCm39) |
N478K |
probably benign |
Het |
Gpr22 |
T |
C |
12: 31,759,139 (GRCm39) |
I328V |
probably damaging |
Het |
Itln1 |
C |
T |
1: 171,359,097 (GRCm39) |
A128T |
probably benign |
Het |
Itprid1 |
A |
G |
6: 55,861,713 (GRCm39) |
T97A |
possibly damaging |
Het |
Kank1 |
A |
G |
19: 25,410,272 (GRCm39) |
K1322R |
probably damaging |
Het |
Klhdc2 |
A |
G |
12: 69,350,414 (GRCm39) |
Y153C |
probably damaging |
Het |
Lonp2 |
T |
A |
8: 87,350,813 (GRCm39) |
M1K |
probably null |
Het |
Mtor |
T |
A |
4: 148,630,886 (GRCm39) |
M2281K |
probably benign |
Het |
Mtor |
T |
A |
4: 148,576,104 (GRCm39) |
N1378K |
probably benign |
Het |
Myo1e |
G |
A |
9: 70,254,022 (GRCm39) |
R557H |
probably damaging |
Het |
Nedd4l |
T |
C |
18: 65,296,244 (GRCm39) |
|
probably null |
Het |
Or2r3 |
T |
C |
6: 42,449,100 (GRCm39) |
D4G |
probably benign |
Het |
Or2t46 |
A |
T |
11: 58,472,035 (GRCm39) |
M122L |
probably damaging |
Het |
Or2z9 |
T |
A |
8: 72,854,374 (GRCm39) |
F257I |
probably damaging |
Het |
Or9i16 |
A |
T |
19: 13,865,223 (GRCm39) |
M117K |
probably damaging |
Het |
Pcdh18 |
T |
C |
3: 49,699,052 (GRCm39) |
|
probably benign |
Het |
Phldb1 |
T |
C |
9: 44,626,700 (GRCm39) |
T582A |
probably damaging |
Het |
Plxna2 |
A |
T |
1: 194,428,458 (GRCm39) |
E509D |
probably benign |
Het |
Poln |
A |
T |
5: 34,286,474 (GRCm39) |
D231E |
probably damaging |
Het |
Prex2 |
G |
A |
1: 11,223,881 (GRCm39) |
R735Q |
possibly damaging |
Het |
Sfmbt2 |
C |
T |
2: 10,573,194 (GRCm39) |
A574V |
probably damaging |
Het |
Slc12a3 |
T |
C |
8: 95,058,310 (GRCm39) |
I152T |
probably damaging |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Svep1 |
T |
C |
4: 58,145,293 (GRCm39) |
I391V |
probably benign |
Het |
Tbx4 |
A |
G |
11: 85,781,720 (GRCm39) |
E80G |
probably damaging |
Het |
Vmn2r22 |
A |
G |
6: 123,614,364 (GRCm39) |
Y409H |
probably benign |
Het |
Zfp691 |
T |
G |
4: 119,027,493 (GRCm39) |
R246S |
probably damaging |
Het |
Zfp846 |
T |
C |
9: 20,499,796 (GRCm39) |
|
probably benign |
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 |
|
IGL02025:Prpf40b
|
APN |
15 |
99,212,469 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2015-04-16 |