Incidental Mutation 'IGL01944:Prpf38b'
| ID |
181194 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Prpf38b
|
| Ensembl Gene |
ENSMUSG00000027881 |
| Gene Name |
PRP38 pre-mRNA processing factor 38 (yeast) domain containing B |
| Synonyms |
1110021E09Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01944
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
108810121-108819043 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 108811991 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 291
(S291R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029480
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029480]
[ENSMUST00000129273]
[ENSMUST00000199735]
|
| AlphaFold |
Q80SY5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029480
AA Change: S291R
PolyPhen 2
Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000029480
Gene: ENSMUSG00000027881
AA Change: S291R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
35 |
N/A |
INTRINSIC |
|
Pfam:PRP38
|
48 |
232 |
5.4e-59 |
PFAM |
|
low complexity region
|
240 |
253 |
N/A |
INTRINSIC |
|
low complexity region
|
257 |
291 |
N/A |
INTRINSIC |
|
coiled coil region
|
293 |
322 |
N/A |
INTRINSIC |
|
low complexity region
|
400 |
439 |
N/A |
INTRINSIC |
|
low complexity region
|
443 |
457 |
N/A |
INTRINSIC |
|
low complexity region
|
467 |
478 |
N/A |
INTRINSIC |
|
low complexity region
|
480 |
506 |
N/A |
INTRINSIC |
|
low complexity region
|
510 |
534 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125208
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127478
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129273
|
| SMART Domains |
Protein: ENSMUSP00000143724
Gene: ENSMUSG00000027881
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
35 |
N/A |
INTRINSIC |
|
Pfam:PRP38
|
48 |
93 |
2.7e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145720
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156808
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197805
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199735
|
| SMART Domains |
Protein: ENSMUSP00000142929
Gene: ENSMUSG00000027881
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
35 |
N/A |
INTRINSIC |
|
Pfam:PRP38
|
43 |
150 |
2e-16 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd11 |
T |
A |
5: 135,040,230 (GRCm39) |
V202D |
probably damaging |
Het |
| Afdn |
A |
G |
17: 14,030,743 (GRCm39) |
N218S |
probably damaging |
Het |
| Arhgef1 |
G |
A |
7: 24,625,208 (GRCm39) |
|
probably null |
Het |
| Atp1a2 |
G |
T |
1: 172,103,754 (GRCm39) |
T959K |
probably damaging |
Het |
| Atp6v0a2 |
A |
G |
5: 124,774,043 (GRCm39) |
E96G |
probably benign |
Het |
| B9d1 |
A |
T |
11: 61,403,205 (GRCm39) |
M52L |
probably benign |
Het |
| Col6a6 |
T |
A |
9: 105,661,108 (GRCm39) |
I334F |
probably damaging |
Het |
| Drd3 |
T |
C |
16: 43,638,671 (GRCm39) |
F259L |
probably benign |
Het |
| Drosha |
T |
G |
15: 12,889,805 (GRCm39) |
L891R |
probably damaging |
Het |
| Ecpas |
G |
T |
4: 58,861,544 (GRCm39) |
T345K |
probably benign |
Het |
| Garin5b |
T |
C |
7: 4,773,694 (GRCm39) |
N67S |
possibly damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Greb1l |
T |
C |
18: 10,557,280 (GRCm39) |
V1760A |
possibly damaging |
Het |
| Il36b |
T |
A |
2: 24,045,291 (GRCm39) |
W48R |
probably damaging |
Het |
| Ipo9 |
C |
A |
1: 135,333,624 (GRCm39) |
V353F |
probably damaging |
Het |
| Kmt2a |
A |
T |
9: 44,761,064 (GRCm39) |
F126I |
probably damaging |
Het |
| Mmrn1 |
T |
C |
6: 60,948,167 (GRCm39) |
|
probably null |
Het |
| Nup214 |
T |
A |
2: 31,924,971 (GRCm39) |
C328* |
probably null |
Het |
| Or9g19 |
A |
G |
2: 85,600,384 (GRCm39) |
I80V |
probably damaging |
Het |
| Pcdh17 |
G |
T |
14: 84,684,960 (GRCm39) |
V476L |
probably benign |
Het |
| Pcdh17 |
T |
A |
14: 84,684,961 (GRCm39) |
V476E |
probably damaging |
Het |
| Rap1gap |
T |
C |
4: 137,452,931 (GRCm39) |
S601P |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,307,283 (GRCm39) |
Y648H |
probably benign |
Het |
| Slfn3 |
A |
G |
11: 83,103,974 (GRCm39) |
T282A |
possibly damaging |
Het |
| Ttll3 |
C |
T |
6: 113,391,076 (GRCm39) |
T887I |
probably benign |
Het |
| Vmn1r197 |
A |
G |
13: 22,512,508 (GRCm39) |
N143S |
possibly damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Xpo4 |
T |
C |
14: 57,841,855 (GRCm39) |
I487V |
probably benign |
Het |
|
| Other mutations in Prpf38b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03145:Prpf38b
|
APN |
3 |
108,811,261 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL03269:Prpf38b
|
APN |
3 |
108,812,557 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0482:Prpf38b
|
UTSW |
3 |
108,812,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0765:Prpf38b
|
UTSW |
3 |
108,818,734 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R3724:Prpf38b
|
UTSW |
3 |
108,811,656 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R3934:Prpf38b
|
UTSW |
3 |
108,811,741 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4367:Prpf38b
|
UTSW |
3 |
108,818,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4649:Prpf38b
|
UTSW |
3 |
108,811,408 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4651:Prpf38b
|
UTSW |
3 |
108,811,408 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4653:Prpf38b
|
UTSW |
3 |
108,811,408 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5073:Prpf38b
|
UTSW |
3 |
108,818,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6795:Prpf38b
|
UTSW |
3 |
108,811,980 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6979:Prpf38b
|
UTSW |
3 |
108,818,640 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7500:Prpf38b
|
UTSW |
3 |
108,812,446 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8045:Prpf38b
|
UTSW |
3 |
108,811,350 (GRCm39) |
missense |
unknown |
|
|
R8210:Prpf38b
|
UTSW |
3 |
108,815,148 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9087:Prpf38b
|
UTSW |
3 |
108,811,657 (GRCm39) |
missense |
unknown |
|
|
R9514:Prpf38b
|
UTSW |
3 |
108,818,619 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9667:Prpf38b
|
UTSW |
3 |
108,818,859 (GRCm39) |
unclassified |
probably benign |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation