Incidental Mutation 'R1051:Rnpc3'
ID |
93928 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rnpc3
|
Ensembl Gene |
ENSMUSG00000027981 |
Gene Name |
RNA-binding region (RNP1, RRM) containing 3 |
Synonyms |
C030014B17Rik, 2810441O16Rik |
MMRRC Submission |
039141-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1051 (G1)
|
Quality Score |
181 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
113398716-113423798 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 113423595 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 37
(E37K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102146
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092154]
[ENSMUST00000106535]
[ENSMUST00000106536]
|
AlphaFold |
Q3UZ01 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000092154
AA Change: E37K
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000089792 Gene: ENSMUSG00000027981 AA Change: E37K
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 |
possibly damaging
Transcript: ENSMUST00000106535
AA Change: E37K
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000102145 Gene: ENSMUSG00000027981 AA Change: E37K
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 |
possibly damaging
Transcript: ENSMUST00000106536
AA Change: E37K
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000102146 Gene: ENSMUSG00000027981 AA Change: E37K
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: ENSMUST00000127068
|
Predicted Effect |
probably benign
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 |
noncoding transcript
Transcript: ENSMUST00000195893
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.8%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad10 |
A |
G |
5: 121,764,143 (GRCm39) |
S929P |
probably damaging |
Het |
Acot1 |
T |
C |
12: 84,056,378 (GRCm39) |
V32A |
probably damaging |
Het |
Ank1 |
G |
A |
8: 23,583,956 (GRCm39) |
G353D |
probably damaging |
Het |
Baiap2l1 |
T |
A |
5: 144,222,943 (GRCm39) |
H97L |
probably damaging |
Het |
Casp8ap2 |
C |
A |
4: 32,640,790 (GRCm39) |
P615T |
probably benign |
Het |
Chrng |
A |
T |
1: 87,136,785 (GRCm39) |
D218V |
possibly damaging |
Het |
Col5a3 |
C |
A |
9: 20,686,531 (GRCm39) |
V1365L |
unknown |
Het |
Ddx49 |
A |
G |
8: 70,747,335 (GRCm39) |
|
probably null |
Het |
Dnaaf2 |
T |
C |
12: 69,244,569 (GRCm39) |
D164G |
probably damaging |
Het |
Eefsec |
A |
T |
6: 88,274,829 (GRCm39) |
D378E |
probably benign |
Het |
Farsb |
T |
C |
1: 78,420,287 (GRCm39) |
I535V |
possibly damaging |
Het |
Fat1 |
T |
G |
8: 45,497,543 (GRCm39) |
S4343A |
probably damaging |
Het |
Fbn2 |
T |
C |
18: 58,145,425 (GRCm39) |
Y2737C |
probably damaging |
Het |
Gtf3c1 |
T |
C |
7: 125,306,821 (GRCm39) |
E10G |
probably damaging |
Het |
Has1 |
T |
C |
17: 18,068,541 (GRCm39) |
D271G |
probably damaging |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Il12rb2 |
A |
G |
6: 67,333,719 (GRCm39) |
F187L |
probably benign |
Het |
Kdsr |
G |
A |
1: 106,675,310 (GRCm39) |
Q109* |
probably null |
Het |
Klb |
G |
A |
5: 65,536,670 (GRCm39) |
A667T |
probably damaging |
Het |
Krba1 |
C |
T |
6: 48,390,332 (GRCm39) |
R704C |
possibly damaging |
Het |
Lenep |
A |
T |
3: 89,309,780 (GRCm39) |
I56N |
possibly damaging |
Het |
Lipc |
T |
C |
9: 70,709,398 (GRCm39) |
I450V |
probably benign |
Het |
Myh6 |
T |
C |
14: 55,186,984 (GRCm39) |
N1329S |
probably benign |
Het |
Myo5c |
T |
A |
9: 75,198,165 (GRCm39) |
M1330K |
probably benign |
Het |
Myo9b |
A |
G |
8: 71,808,466 (GRCm39) |
E1691G |
probably damaging |
Het |
Ninl |
C |
G |
2: 150,812,046 (GRCm39) |
E240Q |
probably damaging |
Het |
Nlgn1 |
T |
C |
3: 25,966,869 (GRCm39) |
S195G |
probably damaging |
Het |
Nlrp4c |
A |
G |
7: 6,068,942 (GRCm39) |
E281G |
probably benign |
Het |
Olfm2 |
T |
C |
9: 20,579,759 (GRCm39) |
T331A |
probably damaging |
Het |
Or1o1 |
A |
T |
17: 37,717,341 (GRCm39) |
I301F |
possibly damaging |
Het |
Or2d2 |
T |
A |
7: 106,728,123 (GRCm39) |
D159V |
possibly damaging |
Het |
Or8b9 |
T |
C |
9: 37,766,657 (GRCm39) |
I181T |
probably damaging |
Het |
Plekhh2 |
T |
C |
17: 84,829,255 (GRCm39) |
|
probably null |
Het |
Pramel4 |
A |
G |
4: 143,795,068 (GRCm39) |
E485G |
possibly damaging |
Het |
Prss12 |
A |
G |
3: 123,279,174 (GRCm39) |
D417G |
probably null |
Het |
Rhpn1 |
A |
T |
15: 75,584,241 (GRCm39) |
Y456F |
probably damaging |
Het |
Rp1l1 |
T |
G |
14: 64,269,984 (GRCm39) |
L1857V |
probably damaging |
Het |
Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
Sepsecs |
C |
T |
5: 52,822,698 (GRCm39) |
A18T |
probably damaging |
Het |
Sgms1 |
T |
A |
19: 32,137,439 (GRCm39) |
L42F |
probably damaging |
Het |
Sipa1l1 |
A |
T |
12: 82,496,119 (GRCm39) |
D1720V |
possibly damaging |
Het |
Slc13a3 |
A |
T |
2: 165,250,740 (GRCm39) |
|
probably null |
Het |
Slc25a40 |
A |
T |
5: 8,480,450 (GRCm39) |
M67L |
probably benign |
Het |
Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
Spesp1 |
T |
C |
9: 62,179,924 (GRCm39) |
D328G |
possibly damaging |
Het |
Sspo |
T |
A |
6: 48,468,389 (GRCm39) |
C4363* |
probably null |
Het |
Tbc1d8 |
C |
T |
1: 39,420,534 (GRCm39) |
W666* |
probably null |
Het |
Tubgcp2 |
T |
C |
7: 139,578,809 (GRCm39) |
D721G |
probably benign |
Het |
Vps54 |
CTTAAT |
CT |
11: 21,228,001 (GRCm39) |
|
probably null |
Het |
Wsb1 |
T |
C |
11: 79,137,059 (GRCm39) |
S113G |
probably damaging |
Het |
Zfp382 |
T |
C |
7: 29,833,435 (GRCm39) |
F362S |
probably damaging |
Het |
Zfp553 |
G |
T |
7: 126,835,977 (GRCm39) |
G511* |
probably null |
Het |
Zfp568 |
C |
T |
7: 29,721,954 (GRCm39) |
Q299* |
probably null |
Het |
Zfp688 |
G |
A |
7: 127,018,397 (GRCm39) |
P243S |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGCTCAAGGTTCAATTCCATGCTC -3'
(R):5'- GAAACTATCTTCCGCTCAGCCTCG -3'
Sequencing Primer
(F):5'- CTCTCTGGTAGGCAAGCTG -3'
(R):5'- TCAGCCTCGGTGACTGC -3'
|
Posted On |
2014-01-05 |