Incidental Mutation 'R6776:Prpf40b'
| ID |
531320 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prpf40b
|
| Ensembl Gene |
ENSMUSG00000023007 |
| Gene Name |
pre-mRNA processing factor 40B |
| Synonyms |
2610317D23Rik |
| MMRRC Submission |
044892-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.167)
|
| Stock # |
R6776 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
99192968-99214899 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 99212784 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 627
(R627W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023745
(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: R627W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023745
Gene: ENSMUSG00000023007
AA Change: R627W
| 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 damaging
Transcript: ENSMUST00000118287
AA Change: R627W
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113282
Gene: ENSMUSG00000023007
AA Change: R627W
| 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: R627W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115869
Gene: ENSMUSG00000023007
AA Change: R627W
| 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 |
unknown
Transcript: ENSMUST00000134034
AA Change: R9W
|
| SMART Domains |
Protein: ENSMUSP00000120030
Gene: ENSMUSG00000023007
AA Change: R9W
| 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 damaging
Transcript: ENSMUST00000136980
AA Change: R614W
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000122649
Gene: ENSMUSG00000023007
AA Change: R614W
| 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: ENSMUST00000130575
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153692
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138036
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139330
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150641
|
| Meta Mutation Damage Score |
0.4298 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.4%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd13 |
A |
G |
8: 10,038,075 (GRCm39) |
H224R |
probably benign |
Het |
| Anapc10 |
T |
C |
8: 80,446,374 (GRCm39) |
F68S |
probably damaging |
Het |
| Arid2 |
A |
G |
15: 96,268,830 (GRCm39) |
N981S |
probably benign |
Het |
| Bmerb1 |
T |
A |
16: 13,804,670 (GRCm39) |
S6T |
possibly damaging |
Het |
| Cfap73 |
A |
G |
5: 120,772,276 (GRCm39) |
F9L |
probably damaging |
Het |
| Chd3 |
A |
C |
11: 69,245,296 (GRCm39) |
L1141V |
probably damaging |
Het |
| Daam1 |
C |
T |
12: 72,036,582 (GRCm39) |
L1052F |
possibly damaging |
Het |
| Dmxl1 |
C |
T |
18: 50,027,041 (GRCm39) |
R2050C |
probably damaging |
Het |
| Dpp10 |
G |
A |
1: 123,295,385 (GRCm39) |
Q552* |
probably null |
Het |
| Dysf |
A |
G |
6: 84,041,876 (GRCm39) |
D160G |
possibly damaging |
Het |
| Ecrg4 |
C |
A |
1: 43,781,551 (GRCm39) |
N144K |
probably damaging |
Het |
| Firrm |
T |
C |
1: 163,804,318 (GRCm39) |
I338M |
probably damaging |
Het |
| Foxp1 |
TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
6: 99,052,926 (GRCm39) |
|
probably benign |
Het |
| Ftcd |
T |
C |
10: 76,425,073 (GRCm39) |
I518T |
probably benign |
Het |
| Gapdh |
A |
G |
6: 125,139,236 (GRCm39) |
S248P |
probably damaging |
Het |
| Gm5592 |
C |
G |
7: 40,939,153 (GRCm39) |
P812A |
probably damaging |
Het |
| Grik2 |
G |
A |
10: 49,232,085 (GRCm39) |
L482F |
probably damaging |
Het |
| Gzmg |
C |
T |
14: 56,394,288 (GRCm39) |
G202D |
probably damaging |
Het |
| Hectd4 |
G |
A |
5: 121,491,574 (GRCm39) |
A3671T |
possibly damaging |
Het |
| Hexa |
G |
T |
9: 59,465,355 (GRCm39) |
W203C |
probably damaging |
Het |
| Igdcc4 |
A |
T |
9: 65,042,700 (GRCm39) |
T1217S |
probably benign |
Het |
| Ipo7 |
A |
G |
7: 109,646,272 (GRCm39) |
D557G |
probably damaging |
Het |
| Irx3 |
T |
A |
8: 92,526,463 (GRCm39) |
T414S |
probably benign |
Het |
| Jakmip1 |
G |
A |
5: 37,344,498 (GRCm39) |
E1313K |
probably damaging |
Het |
| Kbtbd12 |
T |
C |
6: 88,595,248 (GRCm39) |
D194G |
probably damaging |
Het |
| Klk6 |
T |
C |
7: 43,476,298 (GRCm39) |
L46P |
probably damaging |
Het |
| Krt86 |
T |
C |
15: 101,374,817 (GRCm39) |
I329T |
probably benign |
Het |
| Mroh5 |
A |
G |
15: 73,661,817 (GRCm39) |
|
probably null |
Het |
| Mtrf1 |
T |
C |
14: 79,650,521 (GRCm39) |
V323A |
probably damaging |
Het |
| Oas3 |
A |
T |
5: 120,896,939 (GRCm39) |
I894N |
probably damaging |
Het |
| Oplah |
C |
T |
15: 76,185,053 (GRCm39) |
V887I |
possibly damaging |
Het |
| Pag1 |
T |
C |
3: 9,764,848 (GRCm39) |
T102A |
probably benign |
Het |
| Pcnx1 |
C |
T |
12: 82,009,496 (GRCm39) |
A1181V |
possibly damaging |
Het |
| Pkdrej |
G |
T |
15: 85,701,510 (GRCm39) |
Y1475* |
probably null |
Het |
| Pla2g5 |
A |
G |
4: 138,527,964 (GRCm39) |
S101P |
probably benign |
Het |
| Plekha4 |
C |
A |
7: 45,184,241 (GRCm39) |
A76E |
probably damaging |
Het |
| Plk2 |
T |
C |
13: 110,536,325 (GRCm39) |
I592T |
probably benign |
Het |
| Ppp2r3c |
T |
A |
12: 55,345,252 (GRCm39) |
R79* |
probably null |
Het |
| Ppp2r3d |
A |
T |
9: 101,090,061 (GRCm39) |
H87Q |
probably benign |
Het |
| Prrt4 |
G |
T |
6: 29,176,551 (GRCm39) |
T258K |
possibly damaging |
Het |
| Rhpn2 |
T |
A |
7: 35,083,194 (GRCm39) |
|
probably null |
Het |
| Slc11a1 |
T |
A |
1: 74,423,244 (GRCm39) |
I365N |
probably damaging |
Het |
| Slc7a7 |
C |
T |
14: 54,612,108 (GRCm39) |
G265D |
possibly damaging |
Het |
| Thsd7a |
T |
A |
6: 12,555,636 (GRCm39) |
T83S |
possibly damaging |
Het |
| Tln2 |
A |
G |
9: 67,170,187 (GRCm39) |
S1989P |
probably damaging |
Het |
| Tnfaip3 |
T |
G |
10: 18,881,324 (GRCm39) |
T321P |
probably benign |
Het |
| Tnrc6b |
C |
T |
15: 80,808,320 (GRCm39) |
P1623L |
possibly damaging |
Het |
| Trpa1 |
T |
C |
1: 14,982,601 (GRCm39) |
N85S |
probably benign |
Het |
| Trrap |
C |
T |
5: 144,788,066 (GRCm39) |
R3544* |
probably null |
Het |
| Ttf2 |
A |
T |
3: 100,859,869 (GRCm39) |
V695E |
probably benign |
Het |
| Ttll4 |
A |
G |
1: 74,720,512 (GRCm39) |
E509G |
probably damaging |
Het |
| Vdr |
T |
C |
15: 97,767,709 (GRCm39) |
I94V |
probably damaging |
Het |
| Wdfy3 |
G |
T |
5: 102,031,911 (GRCm39) |
Q2304K |
possibly damaging |
Het |
| Zfp663 |
T |
C |
2: 165,200,935 (GRCm39) |
Y33C |
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 |
|
|
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 |
|
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'- TGGGTGGTCCTCTCACTTAC -3'
(R):5'- AGAGCACTGCTGATCAGACC -3'
Sequencing Primer
(F):5'- GTGGTCCTCTCACTTACCCCAATG -3'
(R):5'- ACTGCTGATCAGACCAGGCC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation