Incidental Mutation 'IGL02175:Prpf3'
| ID |
283055 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Prpf3
|
| Ensembl Gene |
ENSMUSG00000015748 |
| Gene Name |
pre-mRNA processing factor 3 |
| Synonyms |
3632413F13Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02175
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
95737436-95763197 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 95741419 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 579
(V579A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124950
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015892]
[ENSMUST00000159901]
[ENSMUST00000161476]
|
| AlphaFold |
Q922U1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000015892
AA Change: V579A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000015892
Gene: ENSMUSG00000015748
AA Change: V579A
| Domain | Start | End | E-Value | Type |
|---|
|
PWI
|
3 |
76 |
5.99e-29 |
SMART |
|
low complexity region
|
112 |
135 |
N/A |
INTRINSIC |
|
Pfam:PRP3
|
308 |
521 |
1.3e-82 |
PFAM |
|
low complexity region
|
526 |
534 |
N/A |
INTRINSIC |
|
Pfam:DUF1115
|
544 |
673 |
1.1e-51 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159901
|
| SMART Domains |
Protein: ENSMUSP00000124444
Gene: ENSMUSG00000015748
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1115
|
1 |
105 |
3.3e-16 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160155
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161476
AA Change: V579A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124950
Gene: ENSMUSG00000015748
AA Change: V579A
| Domain | Start | End | E-Value | Type |
|---|
|
PWI
|
3 |
76 |
5.99e-29 |
SMART |
|
low complexity region
|
112 |
135 |
N/A |
INTRINSIC |
|
Pfam:PRP3
|
307 |
522 |
5.4e-74 |
PFAM |
|
low complexity region
|
526 |
534 |
N/A |
INTRINSIC |
|
Pfam:DUF1115
|
543 |
674 |
3.2e-45 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161482
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163059
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The removal of introns from nuclear pre-mRNAs occurs on complexes called spliceosomes, which are made up of 4 small nuclear ribonucleoprotein (snRNP) particles and an undefined number of transiently associated splicing factors. This gene product is one of several proteins that associate with U4 and U6 snRNPs. Mutations in this gene are associated with retinitis pigmentosa-18. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
A |
T |
8: 87,261,642 (GRCm39) |
|
probably null |
Het |
| Adgrf5 |
A |
G |
17: 43,761,901 (GRCm39) |
I1199V |
probably damaging |
Het |
| Atm |
T |
A |
9: 53,391,965 (GRCm39) |
H1808L |
probably damaging |
Het |
| Cadps |
C |
T |
14: 12,467,092 (GRCm38) |
V942M |
probably damaging |
Het |
| Capns1 |
T |
C |
7: 29,889,957 (GRCm39) |
D116G |
probably benign |
Het |
| Ccdc110 |
T |
G |
8: 46,393,660 (GRCm39) |
M124R |
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,167,087 (GRCm39) |
N1855S |
possibly damaging |
Het |
| Dstyk |
T |
A |
1: 132,377,129 (GRCm39) |
L245* |
probably null |
Het |
| Dync2h1 |
A |
G |
9: 7,111,548 (GRCm39) |
Y289H |
possibly damaging |
Het |
| Efcab6 |
G |
A |
15: 83,780,301 (GRCm39) |
A1044V |
probably damaging |
Het |
| Egr1 |
T |
C |
18: 34,996,108 (GRCm39) |
S297P |
probably benign |
Het |
| Ercc6l2 |
T |
C |
13: 64,017,004 (GRCm39) |
|
probably benign |
Het |
| Frem2 |
C |
T |
3: 53,563,020 (GRCm39) |
A496T |
possibly damaging |
Het |
| Hook2 |
T |
A |
8: 85,718,031 (GRCm39) |
W53R |
probably damaging |
Het |
| Med19 |
T |
A |
2: 84,509,007 (GRCm39) |
|
probably null |
Het |
| Mgrn1 |
A |
G |
16: 4,738,232 (GRCm39) |
N262S |
probably benign |
Het |
| Nbas |
T |
G |
12: 13,616,260 (GRCm39) |
|
probably null |
Het |
| Ndc80 |
A |
C |
17: 71,818,414 (GRCm39) |
M314R |
probably benign |
Het |
| Nelfcd |
A |
T |
2: 174,262,175 (GRCm39) |
T89S |
probably benign |
Het |
| Nlrp4a |
A |
T |
7: 26,174,522 (GRCm39) |
E969D |
probably damaging |
Het |
| Ntrk3 |
A |
G |
7: 77,896,976 (GRCm39) |
V687A |
probably damaging |
Het |
| Oc90 |
A |
C |
15: 65,755,674 (GRCm39) |
S224R |
possibly damaging |
Het |
| Or4a69 |
T |
C |
2: 89,312,626 (GRCm39) |
I284M |
possibly damaging |
Het |
| Plxnb1 |
C |
T |
9: 108,929,914 (GRCm39) |
H257Y |
possibly damaging |
Het |
| Rarres1 |
T |
C |
3: 67,403,089 (GRCm39) |
N104S |
probably benign |
Het |
| Serpina1d |
T |
C |
12: 103,731,955 (GRCm39) |
|
probably null |
Het |
| Sik2 |
G |
A |
9: 50,806,909 (GRCm39) |
Q834* |
probably null |
Het |
| Slc39a10 |
G |
A |
1: 46,857,288 (GRCm39) |
A696V |
probably damaging |
Het |
| Snx13 |
T |
A |
12: 35,182,061 (GRCm39) |
N703K |
possibly damaging |
Het |
| Spaca9 |
T |
C |
2: 28,585,936 (GRCm39) |
I43V |
probably benign |
Het |
| Tor1aip2 |
T |
C |
1: 155,940,752 (GRCm39) |
S353P |
probably damaging |
Het |
| Trmt1l |
T |
C |
1: 151,324,235 (GRCm39) |
S361P |
probably benign |
Het |
| Trpm2 |
T |
C |
10: 77,773,741 (GRCm39) |
H558R |
probably benign |
Het |
| Vmn1r75 |
T |
C |
7: 11,614,774 (GRCm39) |
C127R |
probably damaging |
Het |
| Zfp879 |
A |
T |
11: 50,728,743 (GRCm39) |
Y84N |
probably benign |
Het |
|
| Other mutations in Prpf3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02825:Prpf3
|
APN |
3 |
95,760,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0940:Prpf3
|
UTSW |
3 |
95,751,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1542:Prpf3
|
UTSW |
3 |
95,743,782 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1545:Prpf3
|
UTSW |
3 |
95,755,115 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2063:Prpf3
|
UTSW |
3 |
95,751,551 (GRCm39) |
missense |
probably benign |
|
|
R2084:Prpf3
|
UTSW |
3 |
95,756,301 (GRCm39) |
missense |
probably benign |
0.44 |
|
R2160:Prpf3
|
UTSW |
3 |
95,752,542 (GRCm39) |
missense |
probably benign |
0.19 |
|
R3110:Prpf3
|
UTSW |
3 |
95,757,112 (GRCm39) |
intron |
probably benign |
|
|
R3112:Prpf3
|
UTSW |
3 |
95,757,112 (GRCm39) |
intron |
probably benign |
|
|
R4636:Prpf3
|
UTSW |
3 |
95,741,482 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4671:Prpf3
|
UTSW |
3 |
95,758,976 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4689:Prpf3
|
UTSW |
3 |
95,743,801 (GRCm39) |
nonsense |
probably null |
|
|
R4702:Prpf3
|
UTSW |
3 |
95,741,404 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5080:Prpf3
|
UTSW |
3 |
95,741,109 (GRCm39) |
missense |
probably benign |
0.45 |
|
R5177:Prpf3
|
UTSW |
3 |
95,757,036 (GRCm39) |
intron |
probably benign |
|
|
R5290:Prpf3
|
UTSW |
3 |
95,760,857 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5397:Prpf3
|
UTSW |
3 |
95,760,891 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6329:Prpf3
|
UTSW |
3 |
95,739,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7133:Prpf3
|
UTSW |
3 |
95,741,052 (GRCm39) |
splice site |
probably null |
|
|
R8433:Prpf3
|
UTSW |
3 |
95,758,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8725:Prpf3
|
UTSW |
3 |
95,748,021 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9566:Prpf3
|
UTSW |
3 |
95,760,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9611:Prpf3
|
UTSW |
3 |
95,758,931 (GRCm39) |
nonsense |
probably null |
|
|
R9613:Prpf3
|
UTSW |
3 |
95,758,931 (GRCm39) |
nonsense |
probably null |
|
|
R9733:Prpf3
|
UTSW |
3 |
95,741,512 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
X0063:Prpf3
|
UTSW |
3 |
95,748,027 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation