Incidental Mutation 'R5498:Rnpc3'
| ID |
432461 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnpc3
|
| Ensembl Gene |
ENSMUSG00000027981 |
| Gene Name |
RNA-binding region (RNP1, RRM) containing 3 |
| Synonyms |
C030014B17Rik, 2810441O16Rik |
| MMRRC Submission |
043059-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5498 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
113398716-113423798 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 113404856 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092154]
[ENSMUST00000092154]
[ENSMUST00000106535]
[ENSMUST00000106535]
[ENSMUST00000106536]
[ENSMUST00000106536]
[ENSMUST00000174147]
|
| AlphaFold |
Q3UZ01 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000092154
|
| SMART Domains |
Protein: ENSMUSP00000089792
Gene: ENSMUSG00000027981
| 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: ENSMUST00000092154
|
| SMART Domains |
Protein: ENSMUSP00000089792
Gene: ENSMUSG00000027981
| 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
|
| SMART Domains |
Protein: ENSMUSP00000102145
Gene: ENSMUSG00000027981
| 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: ENSMUST00000106535
|
| SMART Domains |
Protein: ENSMUSP00000102145
Gene: ENSMUSG00000027981
| 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
|
| SMART Domains |
Protein: ENSMUSP00000102146
Gene: ENSMUSG00000027981
| 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: ENSMUST00000106536
|
| SMART Domains |
Protein: ENSMUSP00000102146
Gene: ENSMUSG00000027981
| 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 |
probably null
Transcript: ENSMUST00000153853
|
| SMART Domains |
Protein: ENSMUSP00000115492
Gene: ENSMUSG00000027981
| 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 null
Transcript: ENSMUST00000153853
|
| SMART Domains |
Protein: ENSMUSP00000115492
Gene: ENSMUSG00000027981
| 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 |
- 1x: 98.2%
- 3x: 97.2%
- 10x: 94.8%
- 20x: 89.2%
|
| 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 |
|---|
| 4930522L14Rik |
T |
A |
5: 109,885,413 (GRCm39) |
K148N |
probably benign |
Het |
| Abca6 |
T |
A |
11: 110,099,670 (GRCm39) |
D959V |
possibly damaging |
Het |
| Acot12 |
T |
C |
13: 91,929,352 (GRCm39) |
V393A |
probably damaging |
Het |
| Ano3 |
C |
A |
2: 110,527,448 (GRCm39) |
V587F |
possibly damaging |
Het |
| Bub1 |
T |
C |
2: 127,656,629 (GRCm39) |
D471G |
possibly damaging |
Het |
| Cdh15 |
G |
T |
8: 123,591,917 (GRCm39) |
V601F |
possibly damaging |
Het |
| Cdt1 |
C |
T |
8: 123,297,239 (GRCm39) |
R311W |
probably damaging |
Het |
| Cnot1 |
A |
T |
8: 96,483,983 (GRCm39) |
I706N |
possibly damaging |
Het |
| Fbn1 |
A |
G |
2: 125,202,096 (GRCm39) |
I1259T |
probably damaging |
Het |
| Furin |
A |
T |
7: 80,041,542 (GRCm39) |
W539R |
probably damaging |
Het |
| Hivep1 |
A |
T |
13: 42,276,634 (GRCm39) |
|
probably null |
Het |
| Igkv3-9 |
A |
G |
6: 70,565,727 (GRCm39) |
M109V |
probably benign |
Het |
| Klf10 |
G |
A |
15: 38,296,283 (GRCm39) |
R421W |
probably damaging |
Het |
| Mtor |
A |
T |
4: 148,624,821 (GRCm39) |
Y2144F |
possibly damaging |
Het |
| Mybpc2 |
T |
C |
7: 44,165,689 (GRCm39) |
Y297C |
probably damaging |
Het |
| Myom2 |
G |
A |
8: 15,179,142 (GRCm39) |
E1325K |
probably benign |
Het |
| Nsd1 |
A |
T |
13: 55,361,115 (GRCm39) |
K28* |
probably null |
Het |
| Or2r11 |
C |
T |
6: 42,437,228 (GRCm39) |
A242T |
probably benign |
Het |
| Or51b4 |
T |
G |
7: 103,530,839 (GRCm39) |
T204P |
probably damaging |
Het |
| Phc2 |
C |
A |
4: 128,602,787 (GRCm39) |
N120K |
probably benign |
Het |
| Pias3 |
A |
G |
3: 96,609,504 (GRCm39) |
T274A |
possibly damaging |
Het |
| Plcb4 |
T |
A |
2: 135,818,092 (GRCm39) |
I786N |
probably damaging |
Het |
| Plec |
G |
A |
15: 76,061,654 (GRCm39) |
S2626L |
probably damaging |
Het |
| Polg |
A |
G |
7: 79,104,418 (GRCm39) |
L819P |
probably damaging |
Het |
| Ppp2r3d |
T |
C |
9: 124,439,123 (GRCm38) |
|
probably benign |
Het |
| Resf1 |
A |
G |
6: 149,229,738 (GRCm39) |
D928G |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Sarnp |
T |
A |
10: 128,689,063 (GRCm39) |
D65E |
probably benign |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Slc16a10 |
C |
T |
10: 39,913,323 (GRCm39) |
V462M |
probably damaging |
Het |
| Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
| Slfn5 |
A |
T |
11: 82,847,973 (GRCm39) |
H286L |
possibly damaging |
Het |
| Spag17 |
G |
A |
3: 100,010,661 (GRCm39) |
A2052T |
possibly damaging |
Het |
| Sptbn5 |
A |
T |
2: 119,907,119 (GRCm39) |
|
probably benign |
Het |
| Tlr3 |
C |
T |
8: 45,851,851 (GRCm39) |
D349N |
possibly damaging |
Het |
| Trim45 |
T |
C |
3: 100,832,457 (GRCm39) |
V230A |
possibly damaging |
Het |
| Ube3b |
T |
C |
5: 114,556,635 (GRCm39) |
F989L |
probably damaging |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
| Wdr24 |
A |
G |
17: 26,043,535 (GRCm39) |
H119R |
probably damaging |
Het |
| Yars2 |
T |
A |
16: 16,124,387 (GRCm39) |
H331Q |
possibly damaging |
Het |
| Zscan21 |
T |
C |
5: 138,131,522 (GRCm39) |
S349P |
probably benign |
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 |
|
R5474:Rnpc3
|
UTSW |
3 |
113,409,158 (GRCm39) |
nonsense |
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'- TGTCAAAAGCTTAGGCACAAAACAG -3'
(R):5'- TGCTACTGTTGTCTGCTGTAAAC -3'
Sequencing Primer
(F):5'- GCAGCTTTCATAGTAGGAAAAACAC -3'
(R):5'- GCCTTTTTAGCATTTACAATGGAGTG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation