Incidental Mutation 'IGL00949:Prpf40b'
| ID |
29079 |
| 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 # |
IGL00949
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
99192968-99214899 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 99204419 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 228
(V228L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113282
(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: V228L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000023745
Gene: ENSMUSG00000023007
AA Change: V228L
| 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: V228L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000113282
Gene: ENSMUSG00000023007
AA Change: V228L
| 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 benign
Transcript: ENSMUST00000136980
AA Change: V222L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000122649
Gene: ENSMUSG00000023007
AA Change: V222L
| 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: V228L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000115869
Gene: ENSMUSG00000023007
AA Change: V228L
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl4 |
A |
G |
X: 141,126,325 (GRCm39) |
C303R |
probably damaging |
Het |
| Als2 |
C |
T |
1: 59,254,731 (GRCm39) |
G209S |
probably damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,635,467 (GRCm39) |
T56A |
possibly damaging |
Het |
| Arnt |
T |
A |
3: 95,394,579 (GRCm39) |
I381N |
probably damaging |
Het |
| Atp13a1 |
T |
C |
8: 70,252,653 (GRCm39) |
|
probably benign |
Het |
| Cd180 |
A |
T |
13: 102,830,268 (GRCm39) |
T21S |
possibly damaging |
Het |
| Cdc27 |
T |
C |
11: 104,420,229 (GRCm39) |
Y138C |
probably damaging |
Het |
| Dhx16 |
A |
G |
17: 36,198,826 (GRCm39) |
T753A |
probably benign |
Het |
| Dnah1 |
A |
G |
14: 31,029,047 (GRCm39) |
M561T |
probably benign |
Het |
| Dsc3 |
C |
A |
18: 20,118,688 (GRCm39) |
G259C |
probably null |
Het |
| Enox2 |
A |
T |
X: 48,129,484 (GRCm39) |
D346E |
probably benign |
Het |
| Exoc3l |
T |
C |
8: 106,017,130 (GRCm39) |
E619G |
probably benign |
Het |
| Exosc9 |
T |
C |
3: 36,617,415 (GRCm39) |
|
probably benign |
Het |
| Gmpr2 |
C |
T |
14: 55,914,207 (GRCm39) |
|
probably benign |
Het |
| Golga1 |
T |
C |
2: 38,931,267 (GRCm39) |
E289G |
probably damaging |
Het |
| H3c1 |
G |
A |
13: 23,946,014 (GRCm39) |
T108I |
probably damaging |
Het |
| Jmy |
A |
G |
13: 93,590,510 (GRCm39) |
V531A |
probably damaging |
Het |
| Lamp2 |
T |
C |
X: 37,524,350 (GRCm39) |
N156S |
probably benign |
Het |
| Lrrn1 |
C |
A |
6: 107,546,261 (GRCm39) |
N686K |
probably benign |
Het |
| Lyst |
T |
C |
13: 13,810,070 (GRCm39) |
V580A |
possibly damaging |
Het |
| Ms4a8a |
C |
A |
19: 11,056,808 (GRCm39) |
L91F |
probably benign |
Het |
| Naip2 |
A |
G |
13: 100,298,099 (GRCm39) |
F646L |
probably damaging |
Het |
| Npat |
T |
C |
9: 53,474,662 (GRCm39) |
V818A |
probably benign |
Het |
| Or2w4 |
A |
T |
13: 21,795,521 (GRCm39) |
I206N |
probably damaging |
Het |
| Padi3 |
C |
A |
4: 140,516,254 (GRCm39) |
R542L |
possibly damaging |
Het |
| Pid1 |
A |
G |
1: 84,016,227 (GRCm39) |
V46A |
probably damaging |
Het |
| Pld5 |
A |
T |
1: 175,803,039 (GRCm39) |
C409S |
probably damaging |
Het |
| Plet1 |
A |
G |
9: 50,410,523 (GRCm39) |
T105A |
possibly damaging |
Het |
| Polrmt |
T |
C |
10: 79,573,431 (GRCm39) |
|
probably null |
Het |
| Pp2d1 |
T |
C |
17: 53,822,667 (GRCm39) |
N133S |
probably benign |
Het |
| Ptgfrn |
A |
T |
3: 100,980,161 (GRCm39) |
M393K |
probably benign |
Het |
| Slc9a1 |
C |
T |
4: 133,143,762 (GRCm39) |
T416I |
probably benign |
Het |
| Slc9c1 |
T |
C |
16: 45,413,721 (GRCm39) |
S950P |
probably benign |
Het |
| Slitrk1 |
A |
T |
14: 109,149,241 (GRCm39) |
V490D |
probably damaging |
Het |
| Th |
T |
C |
7: 142,450,763 (GRCm39) |
Y131C |
probably benign |
Het |
| Tlr6 |
A |
G |
5: 65,110,855 (GRCm39) |
L684P |
probably damaging |
Het |
| Tpm3 |
A |
G |
3: 89,997,165 (GRCm39) |
E234G |
probably damaging |
Het |
| Tti1 |
A |
G |
2: 157,824,319 (GRCm39) |
Y1045H |
probably benign |
Het |
| Txnl4b |
T |
A |
8: 110,295,707 (GRCm39) |
V37D |
probably benign |
Het |
| Ufl1 |
A |
T |
4: 25,275,822 (GRCm39) |
F194I |
probably damaging |
Het |
| Usp13 |
G |
A |
3: 32,940,726 (GRCm39) |
E412K |
possibly damaging |
Het |
| Usp46 |
A |
T |
5: 74,163,903 (GRCm39) |
L251Q |
possibly 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 |
|
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 |
|
|
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 |
2013-04-17 |
Incidental Mutation