Incidental Mutation 'R5474:Rnpc3'
| ID |
501097 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnpc3
|
| Ensembl Gene |
ENSMUSG00000027981 |
| Gene Name |
RNA-binding region (RNP1, RRM) containing 3 |
| Synonyms |
C030014B17Rik, 2810441O16Rik |
| MMRRC Submission |
043035-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5474 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
113398716-113423798 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 113409158 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 247
(L247*)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092154]
[ENSMUST00000106535]
[ENSMUST00000106536]
|
| AlphaFold |
Q3UZ01 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000092154
AA Change: L299*
|
| SMART Domains |
Protein: ENSMUSP00000089792
Gene: ENSMUSG00000027981
AA Change: L299*
| 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 null
Transcript: ENSMUST00000106535
AA Change: L299*
|
| SMART Domains |
Protein: ENSMUSP00000102145
Gene: ENSMUSG00000027981
AA Change: L299*
| 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 null
Transcript: ENSMUST00000106536
AA Change: L299*
|
| SMART Domains |
Protein: ENSMUSP00000102146
Gene: ENSMUSG00000027981
AA Change: L299*
| 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: ENSMUST00000123232
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132220
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135712
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000153853
AA Change: L247*
|
| SMART Domains |
Protein: ENSMUSP00000115492
Gene: ENSMUSG00000027981
AA Change: L247*
| 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 |
|
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.2%
- 10x: 95.0%
- 20x: 90.1%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
C |
T |
12: 118,904,425 (GRCm39) |
G122S |
probably null |
Het |
| Ankmy1 |
T |
C |
1: 92,812,926 (GRCm39) |
D461G |
possibly damaging |
Het |
| Ascc3 |
T |
C |
10: 50,725,634 (GRCm39) |
I2119T |
probably benign |
Het |
| Bud13 |
G |
C |
9: 46,199,251 (GRCm39) |
R204T |
probably damaging |
Het |
| Clec4a4 |
T |
C |
6: 122,989,706 (GRCm39) |
S116P |
probably damaging |
Het |
| Cnga1 |
T |
C |
5: 72,762,536 (GRCm39) |
Y326C |
probably damaging |
Het |
| Cngb1 |
A |
T |
8: 95,978,597 (GRCm39) |
I588N |
probably damaging |
Het |
| Cspg5 |
A |
T |
9: 110,080,076 (GRCm39) |
I334F |
probably damaging |
Het |
| Cyp2c29 |
G |
A |
19: 39,313,436 (GRCm39) |
A350T |
probably damaging |
Het |
| D5Ertd579e |
G |
T |
5: 36,772,601 (GRCm39) |
S598Y |
probably damaging |
Het |
| Dgkq |
A |
G |
5: 108,797,009 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Dock4 |
T |
C |
12: 40,795,730 (GRCm39) |
I849T |
probably benign |
Het |
| Drd4 |
T |
C |
7: 140,873,641 (GRCm39) |
W98R |
probably damaging |
Het |
| Duox1 |
A |
T |
2: 122,177,106 (GRCm39) |
Q1511L |
probably benign |
Het |
| Gtdc1 |
A |
T |
2: 44,646,379 (GRCm39) |
L83Q |
probably damaging |
Het |
| H2-T3 |
G |
A |
17: 36,500,999 (GRCm39) |
P6S |
probably damaging |
Het |
| H6pd |
A |
G |
4: 150,080,546 (GRCm39) |
C92R |
probably damaging |
Het |
| Ide |
A |
G |
19: 37,249,583 (GRCm39) |
V923A |
unknown |
Het |
| Kcnc4 |
A |
T |
3: 107,355,207 (GRCm39) |
S414T |
possibly damaging |
Het |
| Krt14 |
A |
T |
11: 100,095,571 (GRCm39) |
M278K |
probably damaging |
Het |
| Lrit1 |
T |
A |
14: 36,783,943 (GRCm39) |
S424T |
probably benign |
Het |
| Muc4 |
G |
A |
16: 32,581,635 (GRCm39) |
S2500N |
unknown |
Het |
| Ncs1 |
A |
T |
2: 31,170,796 (GRCm39) |
N70Y |
probably damaging |
Het |
| Nemf |
C |
A |
12: 69,363,109 (GRCm39) |
R923L |
probably benign |
Het |
| Nrros |
T |
C |
16: 31,963,170 (GRCm39) |
I246M |
probably benign |
Het |
| Or5w13 |
G |
A |
2: 87,523,401 (GRCm39) |
S275F |
probably damaging |
Het |
| Or6a2 |
T |
A |
7: 106,600,296 (GRCm39) |
Y257F |
probably damaging |
Het |
| Or8g51 |
T |
A |
9: 38,609,609 (GRCm39) |
T18S |
possibly damaging |
Het |
| Polb |
A |
G |
8: 23,120,386 (GRCm39) |
Y296H |
probably benign |
Het |
| Prrc2a |
A |
T |
17: 35,378,189 (GRCm39) |
F440L |
unknown |
Het |
| Prrc2c |
T |
C |
1: 162,537,213 (GRCm39) |
|
probably benign |
Het |
| Ptprk |
C |
T |
10: 28,372,926 (GRCm39) |
R726* |
probably null |
Het |
| Scfd2 |
C |
T |
5: 74,692,025 (GRCm39) |
V86I |
probably benign |
Het |
| Sec14l5 |
A |
G |
16: 4,996,382 (GRCm39) |
T443A |
possibly damaging |
Het |
| Slc22a29 |
A |
G |
19: 8,195,221 (GRCm39) |
V138A |
probably damaging |
Het |
| Usp15 |
T |
C |
10: 122,963,950 (GRCm39) |
D524G |
probably damaging |
Het |
| Vav3 |
A |
G |
3: 109,571,737 (GRCm39) |
T220A |
probably benign |
Het |
| Vmn2r17 |
G |
A |
5: 109,582,150 (GRCm39) |
S513N |
probably damaging |
Het |
| Zfp84 |
C |
T |
7: 29,476,514 (GRCm39) |
S402L |
probably damaging |
Het |
| Zfta |
A |
T |
19: 7,397,524 (GRCm39) |
R24W |
probably damaging |
Het |
|
| Other mutations in Rnpc3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02365:Rnpc3
|
APN |
3 |
113,402,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGAGGACTGCTTGTGTTTAAGAG -3'
(R):5'- AACTGGTGAGCTTTATTGGCCTAC -3'
Sequencing Primer
(F):5'- AATGTACCTGAACTTCCGAGTC -3'
(R):5'- GAGCTTTATTGGCCTACTAAGTCTAG -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation