Incidental Mutation 'R8669:Prpf40b'
| ID |
661073 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prpf40b
|
| Ensembl Gene |
ENSMUSG00000023007 |
| Gene Name |
pre-mRNA processing factor 40B |
| Synonyms |
2610317D23Rik |
| MMRRC Submission |
068524-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.167)
|
| Stock # |
R8669 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
99192968-99214899 bp(+) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
T to A
at 99201228 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115869
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023745]
[ENSMUST00000118287]
[ENSMUST00000128352]
[ENSMUST00000136980]
[ENSMUST00000140806]
[ENSMUST00000145482]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000023745
AA Change: M1K
|
| SMART Domains |
Protein: ENSMUSP00000023745
Gene: ENSMUSG00000023007
AA Change: M1K
| 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
AA Change: M1K
|
| SMART Domains |
Protein: ENSMUSP00000113282
Gene: ENSMUSG00000023007
AA Change: M1K
| 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
AA Change: M1K
|
| SMART Domains |
Protein: ENSMUSP00000119556
Gene: ENSMUSG00000023007
AA Change: M1K
| 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 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 |
probably null
Transcript: ENSMUST00000140806
AA Change: M1K
|
| SMART Domains |
Protein: ENSMUSP00000121260
Gene: ENSMUSG00000023007
AA Change: M1K
| 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 |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000145482
AA Change: M1K
|
| SMART Domains |
Protein: ENSMUSP00000115869
Gene: ENSMUSG00000023007
AA Change: M1K
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
98% (53/54) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
A |
T |
12: 72,949,234 (GRCm39) |
S305T |
probably benign |
Het |
| Ankrd42 |
A |
G |
7: 92,268,881 (GRCm39) |
V154A |
possibly damaging |
Het |
| Apc2 |
C |
T |
10: 80,149,491 (GRCm39) |
T1515I |
probably damaging |
Het |
| Blzf1 |
T |
A |
1: 164,130,113 (GRCm39) |
N80Y |
possibly damaging |
Het |
| Cacna2d1 |
T |
C |
5: 16,140,013 (GRCm39) |
M1T |
probably null |
Het |
| Ccdc125 |
T |
C |
13: 100,832,683 (GRCm39) |
L420P |
probably damaging |
Het |
| Ccdc162 |
T |
C |
10: 41,428,352 (GRCm39) |
T1976A |
probably benign |
Het |
| Cdc20b |
C |
T |
13: 113,208,460 (GRCm39) |
P219S |
possibly damaging |
Het |
| Cep89 |
A |
G |
7: 35,128,602 (GRCm39) |
D585G |
probably benign |
Het |
| Crnn |
A |
T |
3: 93,056,296 (GRCm39) |
R361* |
probably null |
Het |
| Defb5 |
A |
G |
8: 19,300,761 (GRCm39) |
I38V |
probably benign |
Het |
| Defb8 |
A |
G |
8: 19,495,973 (GRCm39) |
V29A |
probably benign |
Het |
| Dgkh |
A |
G |
14: 78,962,459 (GRCm39) |
V24A |
probably benign |
Het |
| Dhrs13 |
G |
C |
11: 77,923,492 (GRCm39) |
R70P |
possibly damaging |
Het |
| Dnah12 |
A |
T |
14: 26,552,582 (GRCm39) |
|
probably benign |
Het |
| Dsg2 |
A |
G |
18: 20,723,132 (GRCm39) |
N386S |
probably damaging |
Het |
| Dyrk1a |
G |
T |
16: 94,464,650 (GRCm39) |
R77L |
probably damaging |
Het |
| Fbxw19 |
G |
T |
9: 109,313,482 (GRCm39) |
L239I |
probably benign |
Het |
| Gal3st2b |
A |
T |
1: 93,868,764 (GRCm39) |
I332L |
possibly damaging |
Het |
| Gcnt1 |
T |
G |
19: 17,307,143 (GRCm39) |
K194T |
probably benign |
Het |
| Gm7298 |
T |
C |
6: 121,742,002 (GRCm39) |
W475R |
probably benign |
Het |
| Gpatch1 |
C |
A |
7: 34,991,204 (GRCm39) |
W613C |
probably damaging |
Het |
| Gulp1 |
T |
A |
1: 44,805,270 (GRCm39) |
S120T |
probably benign |
Het |
| Ift122 |
C |
A |
6: 115,900,252 (GRCm39) |
Q946K |
probably damaging |
Het |
| Itpr1 |
T |
A |
6: 108,370,928 (GRCm39) |
L1065H |
probably damaging |
Het |
| Kcnq5 |
T |
C |
1: 21,476,050 (GRCm39) |
D579G |
probably damaging |
Het |
| Klhl40 |
T |
A |
9: 121,607,088 (GRCm39) |
S83T |
probably benign |
Het |
| Krt19 |
T |
C |
11: 100,031,993 (GRCm39) |
K320E |
probably damaging |
Het |
| Krt87 |
C |
A |
15: 101,385,777 (GRCm39) |
V273L |
probably benign |
Het |
| Lgals4 |
C |
T |
7: 28,540,921 (GRCm39) |
R282C |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 41,172,047 (GRCm39) |
|
probably null |
Het |
| Lrrk1 |
G |
A |
7: 65,912,344 (GRCm39) |
L1739F |
probably benign |
Het |
| Mthfr |
A |
G |
4: 148,135,934 (GRCm39) |
N336D |
probably benign |
Het |
| Myo6 |
T |
G |
9: 80,173,531 (GRCm39) |
L557R |
unknown |
Het |
| Naip2 |
T |
C |
13: 100,325,477 (GRCm39) |
S144G |
probably benign |
Het |
| Nfatc1 |
T |
C |
18: 80,725,406 (GRCm39) |
K453E |
probably damaging |
Het |
| Or52ab7 |
A |
T |
7: 102,978,281 (GRCm39) |
D196V |
probably benign |
Het |
| Osm |
A |
T |
11: 4,189,665 (GRCm39) |
I150L |
probably benign |
Het |
| Phtf1 |
T |
A |
3: 103,910,792 (GRCm39) |
N639K |
probably benign |
Het |
| Rhbdl3 |
G |
A |
11: 80,244,339 (GRCm39) |
V349M |
probably damaging |
Het |
| Senp7 |
T |
C |
16: 55,986,315 (GRCm39) |
S582P |
probably damaging |
Het |
| Slc16a14 |
A |
G |
1: 84,900,605 (GRCm39) |
S127P |
probably benign |
Het |
| Slc22a21 |
C |
T |
11: 53,870,643 (GRCm39) |
W14* |
probably null |
Het |
| Slc6a18 |
T |
A |
13: 73,812,430 (GRCm39) |
E553D |
probably benign |
Het |
| Speer4a1 |
T |
G |
5: 26,243,236 (GRCm39) |
N83T |
probably damaging |
Het |
| Svep1 |
T |
A |
4: 58,070,119 (GRCm39) |
S2556C |
possibly damaging |
Het |
| Tc2n |
T |
C |
12: 101,660,851 (GRCm39) |
N127S |
probably damaging |
Het |
| Tcstv7b |
C |
A |
13: 120,702,338 (GRCm39) |
P45T |
probably benign |
Het |
| Tenm4 |
C |
T |
7: 96,555,148 (GRCm39) |
P2618S |
probably benign |
Het |
| Thra |
T |
C |
11: 98,654,476 (GRCm39) |
V282A |
possibly damaging |
Het |
| Tmem161b |
A |
T |
13: 84,420,288 (GRCm39) |
|
probably null |
Het |
| Tmem218 |
C |
T |
9: 37,133,815 (GRCm39) |
A85V |
probably benign |
Het |
| Txnip |
T |
C |
3: 96,466,252 (GRCm39) |
Y100H |
probably damaging |
Het |
| Unc5c |
A |
G |
3: 141,509,704 (GRCm39) |
D728G |
possibly damaging |
Het |
| Zfp462 |
T |
A |
4: 55,051,313 (GRCm39) |
I2262K |
probably damaging |
Het |
| Zfp804a |
A |
T |
2: 82,088,106 (GRCm39) |
D645V |
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 |
|
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 |
|
|
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'- AATGGGGCTTGGAAACTCCC -3'
(R):5'- GGCAGAGGCTTTTATAAGGAGC -3'
Sequencing Primer
(F):5'- GGAAACTCCCTCCTCAACTTGTG -3'
(R):5'- AGGCCTTGCTCTGCTGAAGTC -3'
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| Posted On |
2021-03-08 |
Incidental Mutation