Incidental Mutation 'IGL01878:Prpf40b'
ID |
178947 |
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 # |
IGL01878
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
99192968-99214899 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 99204413 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 220
(C220R)
|
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: C226R
PolyPhen 2
Score 0.169 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000023745 Gene: ENSMUSG00000023007 AA Change: C226R
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: ENSMUST00000118287
AA Change: C226R
PolyPhen 2
Score 0.362 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000113282 Gene: ENSMUSG00000023007 AA Change: C226R
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 |
possibly damaging
Transcript: ENSMUST00000136980
AA Change: C220R
PolyPhen 2
Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000122649 Gene: ENSMUSG00000023007 AA Change: C220R
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 |
noncoding transcript
Transcript: ENSMUST00000139330
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145482
AA Change: C226R
PolyPhen 2
Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000115869 Gene: ENSMUSG00000023007 AA Change: C226R
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: 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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alox8 |
G |
T |
11: 69,087,864 (GRCm39) |
Q147K |
probably benign |
Het |
Ankib1 |
T |
A |
5: 3,784,152 (GRCm39) |
M275L |
possibly damaging |
Het |
Asb2 |
G |
A |
12: 103,287,922 (GRCm39) |
P546S |
possibly damaging |
Het |
B9d1 |
T |
C |
11: 61,398,449 (GRCm39) |
|
probably benign |
Het |
Col12a1 |
T |
C |
9: 79,557,257 (GRCm39) |
D1957G |
possibly damaging |
Het |
Cryzl2 |
T |
C |
1: 157,299,970 (GRCm39) |
V44A |
possibly damaging |
Het |
Fbxw19 |
A |
C |
9: 109,312,347 (GRCm39) |
|
probably benign |
Het |
Gabrb3 |
T |
C |
7: 57,466,163 (GRCm39) |
F326L |
probably damaging |
Het |
Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm11168 |
T |
C |
9: 3,005,204 (GRCm39) |
C16R |
probably benign |
Het |
Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
Gm7808 |
T |
A |
9: 19,839,542 (GRCm39) |
|
probably benign |
Het |
Gpam |
T |
C |
19: 55,071,806 (GRCm39) |
I312V |
probably benign |
Het |
H2-M10.5 |
A |
G |
17: 37,084,708 (GRCm39) |
Y144C |
probably damaging |
Het |
Hivep3 |
T |
C |
4: 119,952,424 (GRCm39) |
S247P |
possibly damaging |
Het |
Hs3st4 |
T |
G |
7: 123,996,536 (GRCm39) |
C401G |
probably damaging |
Het |
Klhl2 |
A |
G |
8: 65,212,858 (GRCm39) |
V227A |
probably damaging |
Het |
Lct |
T |
C |
1: 128,222,003 (GRCm39) |
N1512S |
probably damaging |
Het |
Lipm |
T |
A |
19: 34,093,911 (GRCm39) |
L276Q |
possibly damaging |
Het |
Lmf2 |
T |
A |
15: 89,236,621 (GRCm39) |
H515L |
probably damaging |
Het |
Mccc1 |
G |
A |
3: 36,030,041 (GRCm39) |
S423L |
probably damaging |
Het |
Mettl21e |
G |
A |
1: 44,250,193 (GRCm39) |
S71L |
probably null |
Het |
Muc16 |
T |
A |
9: 18,406,839 (GRCm39) |
H251L |
possibly damaging |
Het |
Neb |
T |
C |
2: 52,059,852 (GRCm39) |
|
probably benign |
Het |
Ntf5 |
T |
C |
7: 45,065,450 (GRCm39) |
I194T |
probably damaging |
Het |
Or10ag58 |
T |
C |
2: 87,265,314 (GRCm39) |
I161T |
possibly damaging |
Het |
Or1o4 |
A |
G |
17: 37,590,891 (GRCm39) |
V140A |
possibly damaging |
Het |
Or2w6 |
T |
C |
13: 21,842,953 (GRCm39) |
D180G |
possibly damaging |
Het |
Or4x11 |
T |
C |
2: 89,867,478 (GRCm39) |
S72P |
probably damaging |
Het |
Or9m1 |
A |
T |
2: 87,733,675 (GRCm39) |
L115* |
probably null |
Het |
Pigv |
T |
C |
4: 133,392,428 (GRCm39) |
I247M |
probably benign |
Het |
Pik3r5 |
A |
G |
11: 68,383,356 (GRCm39) |
N392D |
probably benign |
Het |
Postn |
A |
G |
3: 54,290,901 (GRCm39) |
|
probably null |
Het |
Prl2c5 |
G |
A |
13: 13,360,402 (GRCm39) |
S23N |
probably benign |
Het |
Pzp |
A |
G |
6: 128,472,261 (GRCm39) |
S843P |
probably damaging |
Het |
Rpl23 |
C |
A |
11: 97,669,177 (GRCm39) |
R85L |
probably benign |
Het |
Shcbp1 |
A |
G |
8: 4,799,721 (GRCm39) |
S252P |
probably damaging |
Het |
Slc26a7 |
C |
T |
4: 14,519,388 (GRCm39) |
|
probably null |
Het |
Sptbn4 |
T |
C |
7: 27,063,571 (GRCm39) |
E2285G |
probably damaging |
Het |
Telo2 |
G |
T |
17: 25,320,332 (GRCm39) |
T784K |
probably benign |
Het |
Tnfrsf19 |
C |
T |
14: 61,234,093 (GRCm39) |
V136M |
probably damaging |
Het |
Trpm5 |
T |
A |
7: 142,628,234 (GRCm39) |
I22F |
probably damaging |
Het |
Trpv6 |
G |
T |
6: 41,603,801 (GRCm39) |
|
probably benign |
Het |
Vmn1r173 |
T |
G |
7: 23,401,877 (GRCm39) |
H37Q |
probably damaging |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Xpo6 |
T |
A |
7: 125,773,365 (GRCm39) |
H20L |
probably benign |
Het |
Zfp462 |
T |
C |
4: 55,010,613 (GRCm39) |
Y860H |
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 |
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 |
|
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 |