Incidental Mutation 'R0356:Prpf40b'
ID |
65392 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prpf40b
|
Ensembl Gene |
ENSMUSG00000023007 |
Gene Name |
pre-mRNA processing factor 40B |
Synonyms |
2610317D23Rik |
MMRRC Submission |
038562-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.167)
|
Stock # |
R0356 (G1)
|
Quality Score |
105 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
99192968-99214899 bp(+) (GRCm39) |
Type of Mutation |
splice site (6 bp from exon) |
DNA Base Change (assembly) |
T to C
at 99203080 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115869
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023745]
[ENSMUST00000023745]
[ENSMUST00000118287]
[ENSMUST00000128352]
[ENSMUST00000128352]
[ENSMUST00000136980]
[ENSMUST00000136980]
[ENSMUST00000145482]
[ENSMUST00000140806]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000023745
|
SMART Domains |
Protein: ENSMUSP00000023745 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 |
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 null
Transcript: ENSMUST00000023745
|
SMART Domains |
Protein: ENSMUSP00000023745 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 |
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 null
Transcript: ENSMUST00000118287
|
SMART Domains |
Protein: ENSMUSP00000113282 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 |
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 null
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 |
probably null
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 null
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 |
probably null
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: ENSMUST00000138036
|
Predicted Effect |
probably null
Transcript: ENSMUST00000145482
|
SMART Domains |
Protein: ENSMUSP00000115869 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 |
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: ENSMUST00000153692
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150641
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139330
|
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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.6%
- 10x: 94.4%
- 20x: 86.1%
|
Validation Efficiency |
100% (47/47) |
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9430097D07Rik |
T |
C |
2: 32,464,418 (GRCm39) |
|
probably benign |
Het |
Adgrg6 |
C |
T |
10: 14,302,642 (GRCm39) |
V924M |
possibly damaging |
Het |
Anxa9 |
A |
G |
3: 95,215,387 (GRCm39) |
|
probably benign |
Het |
Ap3d1 |
G |
T |
10: 80,563,812 (GRCm39) |
S122R |
probably damaging |
Het |
Arhgap5 |
T |
C |
12: 52,563,091 (GRCm39) |
S21P |
probably damaging |
Het |
Atp13a5 |
A |
G |
16: 29,167,573 (GRCm39) |
|
probably benign |
Het |
AU040320 |
A |
T |
4: 126,731,155 (GRCm39) |
D618V |
probably damaging |
Het |
Cbfa2t2 |
T |
A |
2: 154,373,269 (GRCm39) |
D475E |
probably benign |
Het |
Ccdc202 |
T |
A |
14: 96,119,801 (GRCm39) |
V186E |
possibly damaging |
Het |
Ccdc62 |
G |
A |
5: 124,092,811 (GRCm39) |
V599I |
probably benign |
Het |
Cenpj |
T |
C |
14: 56,786,953 (GRCm39) |
E917G |
probably damaging |
Het |
Cog5 |
T |
C |
12: 31,887,180 (GRCm39) |
|
probably benign |
Het |
Col9a1 |
T |
A |
1: 24,224,328 (GRCm39) |
L170* |
probably null |
Het |
Daxx |
T |
A |
17: 34,132,867 (GRCm39) |
V627D |
probably benign |
Het |
Dnah9 |
A |
G |
11: 66,021,388 (GRCm39) |
|
probably null |
Het |
Drg2 |
T |
A |
11: 60,352,407 (GRCm39) |
V203E |
probably damaging |
Het |
Fbxl17 |
G |
A |
17: 63,663,846 (GRCm39) |
R67C |
probably damaging |
Het |
Fer1l4 |
T |
C |
2: 155,865,930 (GRCm39) |
Y1586C |
probably damaging |
Het |
Gp6 |
A |
T |
7: 4,373,141 (GRCm39) |
|
probably benign |
Het |
Hhip |
T |
C |
8: 80,724,121 (GRCm39) |
I374V |
probably benign |
Het |
Hspa12b |
G |
T |
2: 130,986,719 (GRCm39) |
V547L |
possibly damaging |
Het |
Iars1 |
G |
A |
13: 49,856,709 (GRCm39) |
V321I |
probably benign |
Het |
Itga8 |
T |
C |
2: 12,187,532 (GRCm39) |
M716V |
possibly damaging |
Het |
Lcn5 |
T |
C |
2: 25,550,705 (GRCm39) |
I131T |
probably damaging |
Het |
Mki67 |
G |
A |
7: 135,306,135 (GRCm39) |
T614M |
probably benign |
Het |
Mmp3 |
G |
A |
9: 7,451,768 (GRCm39) |
E369K |
probably benign |
Het |
Myt1l |
A |
G |
12: 29,861,500 (GRCm39) |
D94G |
unknown |
Het |
Neil1 |
T |
C |
9: 57,054,180 (GRCm39) |
I47V |
possibly damaging |
Het |
Nr5a2 |
T |
C |
1: 136,773,430 (GRCm39) |
N424S |
possibly damaging |
Het |
Or1e21 |
A |
T |
11: 73,344,906 (GRCm39) |
I44N |
possibly damaging |
Het |
Or51f5 |
A |
T |
7: 102,424,286 (GRCm39) |
D185V |
probably damaging |
Het |
Or5b120 |
A |
G |
19: 13,480,441 (GRCm39) |
T245A |
possibly damaging |
Het |
Or7e166 |
G |
T |
9: 19,624,743 (GRCm39) |
G207C |
probably damaging |
Het |
Pakap |
C |
A |
4: 57,855,628 (GRCm39) |
T360K |
possibly damaging |
Het |
Pde8b |
G |
T |
13: 95,182,962 (GRCm39) |
N265K |
probably damaging |
Het |
Samd9l |
T |
C |
6: 3,375,107 (GRCm39) |
D718G |
possibly damaging |
Het |
Sirpb1c |
T |
C |
3: 15,887,309 (GRCm39) |
N175D |
possibly damaging |
Het |
Srgap1 |
A |
T |
10: 121,691,441 (GRCm39) |
|
probably null |
Het |
Tgm5 |
T |
A |
2: 120,884,055 (GRCm39) |
T313S |
probably damaging |
Het |
Tigar |
A |
G |
6: 127,068,145 (GRCm39) |
|
probably null |
Het |
Tmprss11b |
A |
G |
5: 86,808,326 (GRCm39) |
*417Q |
probably null |
Het |
Trim32 |
G |
A |
4: 65,531,491 (GRCm39) |
R16Q |
probably damaging |
Het |
Ttll11 |
T |
C |
2: 35,792,688 (GRCm39) |
D385G |
possibly damaging |
Het |
Zfp426 |
T |
C |
9: 20,382,541 (GRCm39) |
T135A |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGACTGTTAGTCGGCAGAGATCC -3'
(R):5'- TGTTCCAGCCACAGCAGCTAGAAG -3'
Sequencing Primer
(F):5'- GATCCCTGGGAACAGGACAC -3'
(R):5'- AGAAGCCTACTAAGCCCTTGTTC -3'
|
Posted On |
2013-08-08 |