Incidental Mutation 'IGL02365:Rnpc3'
| ID |
290681 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rnpc3
|
| Ensembl Gene |
ENSMUSG00000027981 |
| Gene Name |
RNA-binding region (RNP1, RRM) containing 3 |
| Synonyms |
C030014B17Rik, 2810441O16Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02365
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
113398716-113423798 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 113402048 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 500
(S500P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102145
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092154]
[ENSMUST00000106535]
[ENSMUST00000106536]
[ENSMUST00000174147]
|
| AlphaFold |
Q3UZ01 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092154
AA Change: S501P
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000089792
Gene: ENSMUSG00000027981
AA Change: S501P
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
28 |
98 |
2.28e-9 |
SMART |
|
low complexity region
|
218 |
253 |
N/A |
INTRINSIC |
|
low complexity region
|
371 |
382 |
N/A |
INTRINSIC |
|
RRM
|
419 |
497 |
1.35e-11 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106535
AA Change: S500P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102145
Gene: ENSMUSG00000027981
AA Change: S500P
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
28 |
98 |
2.28e-9 |
SMART |
|
low complexity region
|
218 |
253 |
N/A |
INTRINSIC |
|
low complexity region
|
371 |
382 |
N/A |
INTRINSIC |
|
RRM
|
419 |
497 |
4.1e-11 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106536
AA Change: S501P
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102146
Gene: ENSMUSG00000027981
AA Change: S501P
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
28 |
98 |
2.28e-9 |
SMART |
|
low complexity region
|
218 |
253 |
N/A |
INTRINSIC |
|
low complexity region
|
371 |
382 |
N/A |
INTRINSIC |
|
RRM
|
419 |
497 |
1.35e-11 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132220
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000153853
AA Change: S449P
|
| SMART Domains |
Protein: ENSMUSP00000115492
Gene: ENSMUSG00000027981
AA Change: S449P
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RRM
|
2 |
47 |
8e-22 |
BLAST |
|
SCOP:d1urna_
|
3 |
53 |
4e-4 |
SMART |
|
low complexity region
|
167 |
202 |
N/A |
INTRINSIC |
|
low complexity region
|
320 |
331 |
N/A |
INTRINSIC |
|
RRM
|
368 |
446 |
1.35e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174147
|
| SMART Domains |
Protein: ENSMUSP00000133875
Gene: ENSMUSG00000074264
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Alpha-amylase
|
35 |
129 |
2e-10 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Two types of spliceosomes catalyze splicing of pre-mRNAs. The major U2-type spliceosome is found in all eukaryotes and removes U2-type introns, which represent more than 99% of pre-mRNA introns. The minor U12-type spliceosome is found in some eukaryotes and removes U12-type introns, which are rare and have distinct splice consensus signals. The U12-type spliceosome consists of several small nuclear RNAs and associated proteins. This gene encodes a 65K protein that is a component of the U12-type spliceosome. This protein contains two RNA recognition motifs (RRMs), suggesting that it may contact one of the small nuclear RNAs of the minor spliceosome. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acyp2 |
A |
T |
11: 30,599,318 (GRCm39) |
V21E |
probably damaging |
Het |
| Adgrl3 |
A |
G |
5: 81,660,428 (GRCm39) |
D331G |
probably damaging |
Het |
| Arfgef1 |
A |
T |
1: 10,270,108 (GRCm39) |
I347N |
probably benign |
Het |
| Bfsp1 |
T |
G |
2: 143,668,656 (GRCm39) |
E647A |
probably damaging |
Het |
| Bhmt |
A |
T |
13: 93,754,146 (GRCm39) |
N354K |
probably benign |
Het |
| Brinp3 |
A |
T |
1: 146,776,860 (GRCm39) |
T436S |
probably benign |
Het |
| Capza1b |
T |
C |
X: 168,559,526 (GRCm39) |
N272D |
probably benign |
Het |
| Cog7 |
C |
A |
7: 121,576,959 (GRCm39) |
M66I |
possibly damaging |
Het |
| Csf2rb2 |
A |
T |
15: 78,171,260 (GRCm39) |
M333K |
possibly damaging |
Het |
| Cyp2u1 |
A |
G |
3: 131,091,878 (GRCm39) |
V214A |
probably damaging |
Het |
| Dcaf5 |
A |
T |
12: 80,445,547 (GRCm39) |
H177Q |
probably benign |
Het |
| Dchs1 |
T |
C |
7: 105,404,395 (GRCm39) |
T2716A |
probably benign |
Het |
| Dsc1 |
T |
C |
18: 20,241,873 (GRCm39) |
Q156R |
probably damaging |
Het |
| Dspp |
G |
T |
5: 104,323,927 (GRCm39) |
G357W |
probably damaging |
Het |
| Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
| Fto |
T |
G |
8: 92,195,003 (GRCm39) |
S265R |
probably damaging |
Het |
| Gphb5 |
A |
G |
12: 75,462,591 (GRCm39) |
|
probably benign |
Het |
| Iars1 |
T |
C |
13: 49,844,975 (GRCm39) |
V162A |
probably benign |
Het |
| Klk13 |
A |
C |
7: 43,373,290 (GRCm39) |
K107T |
possibly damaging |
Het |
| Kpna7 |
T |
A |
5: 144,922,543 (GRCm39) |
D507V |
possibly damaging |
Het |
| Lamb1 |
A |
T |
12: 31,368,344 (GRCm39) |
E1158V |
probably damaging |
Het |
| Lonp2 |
A |
T |
8: 87,442,993 (GRCm39) |
D818V |
possibly damaging |
Het |
| Med15 |
A |
G |
16: 17,489,470 (GRCm39) |
|
probably benign |
Het |
| Or5p51 |
T |
A |
7: 107,444,119 (GRCm39) |
N274Y |
probably damaging |
Het |
| Or6c69b |
T |
C |
10: 129,627,404 (GRCm39) |
D18G |
possibly damaging |
Het |
| Or8g52 |
A |
T |
9: 39,630,970 (GRCm39) |
Y149F |
possibly damaging |
Het |
| Or8g52 |
G |
A |
9: 39,631,396 (GRCm39) |
S291N |
probably damaging |
Het |
| Plpbp |
A |
G |
8: 27,535,952 (GRCm39) |
I82V |
probably benign |
Het |
| Ptprcap |
A |
G |
19: 4,206,267 (GRCm39) |
I117V |
probably benign |
Het |
| Rhox12 |
T |
A |
X: 37,196,758 (GRCm39) |
D88V |
possibly damaging |
Het |
| Sdhd |
A |
T |
9: 50,510,125 (GRCm39) |
Y84N |
possibly damaging |
Het |
| Sema6d |
G |
A |
2: 124,498,788 (GRCm39) |
V233I |
probably benign |
Het |
| Vegfb |
A |
T |
19: 6,962,855 (GRCm39) |
I140N |
probably benign |
Het |
| Vldlr |
A |
G |
19: 27,223,025 (GRCm39) |
Y732C |
probably damaging |
Het |
| Vmn2r17 |
T |
A |
5: 109,601,175 (GRCm39) |
F824L |
probably damaging |
Het |
| Xdh |
A |
T |
17: 74,250,885 (GRCm39) |
N22K |
probably benign |
Het |
| Zc3h11a |
A |
C |
1: 133,565,151 (GRCm39) |
N249K |
probably benign |
Het |
| Zwilch |
T |
A |
9: 64,068,206 (GRCm39) |
D203V |
probably damaging |
Het |
|
| Other mutations in Rnpc3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02750:Rnpc3
|
APN |
3 |
113,415,588 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0316:Rnpc3
|
UTSW |
3 |
113,423,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0420:Rnpc3
|
UTSW |
3 |
113,415,518 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0601:Rnpc3
|
UTSW |
3 |
113,413,755 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1051:Rnpc3
|
UTSW |
3 |
113,423,595 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1386:Rnpc3
|
UTSW |
3 |
113,407,433 (GRCm39) |
nonsense |
probably null |
|
|
R1865:Rnpc3
|
UTSW |
3 |
113,415,559 (GRCm39) |
nonsense |
probably null |
|
|
R1870:Rnpc3
|
UTSW |
3 |
113,404,704 (GRCm39) |
unclassified |
probably benign |
|
|
R2045:Rnpc3
|
UTSW |
3 |
113,402,009 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4447:Rnpc3
|
UTSW |
3 |
113,404,786 (GRCm39) |
unclassified |
probably benign |
|
|
R4450:Rnpc3
|
UTSW |
3 |
113,404,786 (GRCm39) |
unclassified |
probably benign |
|
|
R4934:Rnpc3
|
UTSW |
3 |
113,418,628 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5436:Rnpc3
|
UTSW |
3 |
113,418,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5474:Rnpc3
|
UTSW |
3 |
113,409,158 (GRCm39) |
nonsense |
probably null |
|
|
R5498:Rnpc3
|
UTSW |
3 |
113,404,856 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5505:Rnpc3
|
UTSW |
3 |
113,409,102 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5868:Rnpc3
|
UTSW |
3 |
113,410,360 (GRCm39) |
splice site |
probably null |
|
|
R6123:Rnpc3
|
UTSW |
3 |
113,402,705 (GRCm39) |
splice site |
probably null |
|
|
R7220:Rnpc3
|
UTSW |
3 |
113,422,004 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7240:Rnpc3
|
UTSW |
3 |
113,410,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7507:Rnpc3
|
UTSW |
3 |
113,410,410 (GRCm39) |
missense |
probably benign |
|
|
R7537:Rnpc3
|
UTSW |
3 |
113,407,481 (GRCm39) |
missense |
probably benign |
|
|
R7818:Rnpc3
|
UTSW |
3 |
113,423,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7872:Rnpc3
|
UTSW |
3 |
113,416,096 (GRCm39) |
nonsense |
probably null |
|
|
R8738:Rnpc3
|
UTSW |
3 |
113,414,805 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9269:Rnpc3
|
UTSW |
3 |
113,404,895 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9375:Rnpc3
|
UTSW |
3 |
113,404,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF023:Rnpc3
|
UTSW |
3 |
113,413,723 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0012:Rnpc3
|
UTSW |
3 |
113,423,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation