Incidental Mutation 'R2224:Prpf40b'
| ID |
241571 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prpf40b
|
| Ensembl Gene |
ENSMUSG00000023007 |
| Gene Name |
pre-mRNA processing factor 40B |
| Synonyms |
2610317D23Rik |
| MMRRC Submission |
040225-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.167)
|
| Stock # |
R2224 (G1)
|
| Quality Score |
214 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
99192968-99214899 bp(+) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
C to T
at 99201172 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115869
(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
|
| 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 benign
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 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
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000139330
|
| Predicted Effect |
probably benign
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: ENSMUST00000150641
|
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
T |
G |
16: 14,289,932 (GRCm39) |
L1416R |
probably damaging |
Het |
| Aen |
C |
A |
7: 78,552,199 (GRCm39) |
T15K |
probably benign |
Het |
| Ahnak |
G |
A |
19: 8,990,355 (GRCm39) |
|
probably benign |
Het |
| Ar |
T |
A |
X: 97,194,937 (GRCm39) |
M517K |
probably benign |
Het |
| Arsb |
T |
A |
13: 93,930,679 (GRCm39) |
F216I |
probably damaging |
Het |
| Atg9b |
A |
G |
5: 24,591,393 (GRCm39) |
V735A |
possibly damaging |
Het |
| Brinp3 |
C |
T |
1: 146,777,658 (GRCm39) |
Q702* |
probably null |
Het |
| Btbd9 |
C |
A |
17: 30,746,320 (GRCm39) |
A169S |
probably damaging |
Het |
| Cacna1h |
T |
C |
17: 25,604,917 (GRCm39) |
N1132S |
probably benign |
Het |
| Ccdc33 |
A |
G |
9: 57,989,305 (GRCm39) |
S123P |
probably damaging |
Het |
| Cep250 |
A |
C |
2: 155,833,737 (GRCm39) |
E1886D |
possibly damaging |
Het |
| Chd9 |
A |
C |
8: 91,737,913 (GRCm39) |
H1515P |
probably benign |
Het |
| Cyp2c68 |
A |
G |
19: 39,724,026 (GRCm39) |
C213R |
probably benign |
Het |
| Ddx41 |
G |
A |
13: 55,679,214 (GRCm39) |
T544I |
probably damaging |
Het |
| Dgkk |
T |
A |
X: 6,741,487 (GRCm39) |
D102E |
probably damaging |
Het |
| Eea1 |
T |
A |
10: 95,855,874 (GRCm39) |
V637D |
probably damaging |
Het |
| Emcn |
T |
C |
3: 137,109,778 (GRCm39) |
I140T |
possibly damaging |
Het |
| Exo1 |
A |
G |
1: 175,714,254 (GRCm39) |
|
probably null |
Het |
| Fbxo21 |
T |
G |
5: 118,146,188 (GRCm39) |
Y597D |
probably damaging |
Het |
| Fbxw20 |
G |
C |
9: 109,062,650 (GRCm39) |
Q59E |
possibly damaging |
Het |
| Fpr3 |
T |
A |
17: 18,191,455 (GRCm39) |
V242D |
probably damaging |
Het |
| Fyb1 |
A |
G |
15: 6,681,864 (GRCm39) |
Y737C |
probably damaging |
Het |
| Gm17661 |
GG |
GGG |
2: 90,748,052 (GRCm39) |
|
noncoding transcript |
Het |
| Hdac9 |
C |
T |
12: 34,457,801 (GRCm39) |
V251I |
probably benign |
Het |
| Hoxa10 |
T |
C |
6: 52,209,616 (GRCm39) |
E52G |
probably damaging |
Het |
| Il17f |
A |
G |
1: 20,849,599 (GRCm39) |
V55A |
probably damaging |
Het |
| Inpp1 |
T |
A |
1: 52,829,290 (GRCm39) |
E243V |
probably benign |
Het |
| Leap2 |
A |
G |
11: 53,313,634 (GRCm39) |
L46P |
probably damaging |
Het |
| Map4k3 |
A |
T |
17: 80,937,883 (GRCm39) |
D339E |
probably benign |
Het |
| Met |
A |
G |
6: 17,563,721 (GRCm39) |
|
probably null |
Het |
| Mgam |
G |
T |
6: 40,741,208 (GRCm39) |
|
probably null |
Het |
| Mrgpra1 |
A |
G |
7: 46,984,854 (GRCm39) |
V275A |
possibly damaging |
Het |
| Mrgprx2 |
T |
A |
7: 48,132,608 (GRCm39) |
Q70L |
probably benign |
Het |
| Mtus1 |
C |
T |
8: 41,535,812 (GRCm39) |
V635M |
probably damaging |
Het |
| Mup18 |
G |
T |
4: 61,590,128 (GRCm39) |
F133L |
possibly damaging |
Het |
| Naalad2 |
A |
T |
9: 18,287,829 (GRCm39) |
V267E |
possibly damaging |
Het |
| Nin |
A |
T |
12: 70,108,004 (GRCm39) |
I196N |
probably damaging |
Het |
| Nkpd1 |
A |
T |
7: 19,253,745 (GRCm39) |
Y37F |
probably benign |
Het |
| Odc1 |
A |
G |
12: 17,597,336 (GRCm39) |
I13V |
probably benign |
Het |
| Or1ad1 |
T |
C |
11: 50,876,059 (GRCm39) |
F177S |
probably damaging |
Het |
| Or4a67 |
A |
T |
2: 88,597,930 (GRCm39) |
M243K |
possibly damaging |
Het |
| Or5m12 |
T |
A |
2: 85,735,099 (GRCm39) |
I100F |
probably benign |
Het |
| Pard3 |
A |
G |
8: 128,086,257 (GRCm39) |
I286V |
probably damaging |
Het |
| Pcx |
T |
C |
19: 4,668,026 (GRCm39) |
I516T |
possibly damaging |
Het |
| Ppp1r9a |
G |
T |
6: 5,154,074 (GRCm39) |
R1081L |
probably benign |
Het |
| Rnmt |
C |
T |
18: 68,438,854 (GRCm39) |
|
probably benign |
Het |
| Saxo5 |
A |
G |
8: 3,529,249 (GRCm39) |
T245A |
probably benign |
Het |
| Sfxn1 |
A |
G |
13: 54,239,536 (GRCm39) |
T20A |
possibly damaging |
Het |
| Sirt2 |
A |
G |
7: 28,471,637 (GRCm39) |
|
probably null |
Het |
| Spata31d1a |
T |
A |
13: 59,851,529 (GRCm39) |
I200L |
probably benign |
Het |
| Spin2g |
A |
T |
X: 33,656,599 (GRCm39) |
I171N |
possibly damaging |
Het |
| Tesl2 |
T |
A |
X: 23,825,173 (GRCm39) |
M1L |
probably null |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tsbp1 |
C |
A |
17: 34,667,737 (GRCm39) |
|
probably null |
Het |
| Uqcrc2 |
T |
A |
7: 120,240,937 (GRCm39) |
V73E |
probably damaging |
Het |
| Vmn2r100 |
A |
G |
17: 19,742,634 (GRCm39) |
K336R |
probably benign |
Het |
| Vmn2r108 |
A |
T |
17: 20,701,295 (GRCm39) |
Y68* |
probably null |
Het |
| Zbtb4 |
C |
T |
11: 69,667,184 (GRCm39) |
T163I |
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 |
|
|
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 |
|
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'- ATCATCTGGCTTTCTGGGCTAG -3'
(R):5'- CATCTTCCAATGGCAGCAAAG -3'
Sequencing Primer
(F):5'- CTTTCTGGGCTAGCACTAGAG -3'
(R):5'- CAAAGGCTGTGTAACAGGTCGTTC -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation