Incidental Mutation 'R6123:Rnpc3'
| ID |
485817 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnpc3
|
| Ensembl Gene |
ENSMUSG00000027981 |
| Gene Name |
RNA-binding region (RNP1, RRM) containing 3 |
| Synonyms |
C030014B17Rik, 2810441O16Rik |
| MMRRC Submission |
044270-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6123 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
113398716-113423798 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 113402705 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133875
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092154]
[ENSMUST00000106535]
[ENSMUST00000106536]
[ENSMUST00000174147]
|
| AlphaFold |
Q3UZ01 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000092154
AA Change: F490L
PolyPhen 2
Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000089792
Gene: ENSMUSG00000027981
AA Change: F490L
| 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: F490L
PolyPhen 2
Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000102145
Gene: ENSMUSG00000027981
AA Change: F490L
| 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: F490L
PolyPhen 2
Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000102146
Gene: ENSMUSG00000027981
AA Change: F490L
| 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 damaging
Transcript: ENSMUST00000153853
AA Change: F438L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115492
Gene: ENSMUSG00000027981
AA Change: F438L
| 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: 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: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot7 |
A |
G |
4: 152,284,402 (GRCm39) |
E24G |
probably benign |
Het |
| Ankrd34b |
A |
G |
13: 92,575,584 (GRCm39) |
E272G |
probably damaging |
Het |
| Arhgef18 |
A |
T |
8: 3,487,091 (GRCm39) |
N270I |
probably damaging |
Het |
| AU040320 |
A |
G |
4: 126,763,179 (GRCm39) |
|
probably benign |
Het |
| Btnl10 |
C |
A |
11: 58,811,130 (GRCm39) |
S151Y |
probably damaging |
Het |
| Ccdc146 |
C |
A |
5: 21,510,595 (GRCm39) |
R504I |
possibly damaging |
Het |
| Ckmt1 |
C |
G |
2: 121,194,060 (GRCm39) |
R408G |
probably benign |
Het |
| Clba1 |
T |
C |
12: 112,774,530 (GRCm39) |
F153L |
probably damaging |
Het |
| Cyp2j6 |
A |
T |
4: 96,406,266 (GRCm39) |
*502R |
probably null |
Het |
| Dido1 |
A |
T |
2: 180,325,760 (GRCm39) |
V476E |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,409,185 (GRCm39) |
K398E |
probably benign |
Het |
| E130308A19Rik |
A |
G |
4: 59,737,565 (GRCm39) |
Y392C |
probably damaging |
Het |
| Esf1 |
T |
A |
2: 140,010,309 (GRCm39) |
D9V |
probably benign |
Het |
| Fam168a |
A |
G |
7: 100,473,357 (GRCm39) |
Q82R |
probably damaging |
Het |
| Fastkd3 |
C |
T |
13: 68,738,337 (GRCm39) |
Q32* |
probably null |
Het |
| Gm14496 |
T |
A |
2: 181,633,020 (GRCm39) |
M1K |
probably null |
Het |
| Gm6665 |
A |
G |
18: 31,952,937 (GRCm39) |
M79T |
probably benign |
Het |
| Gna15 |
A |
G |
10: 81,345,178 (GRCm39) |
L229P |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,404,532 (GRCm39) |
T4451A |
probably damaging |
Het |
| Igf2bp1 |
A |
G |
11: 95,866,122 (GRCm39) |
V122A |
probably damaging |
Het |
| Ighv5-4 |
A |
T |
12: 113,561,313 (GRCm39) |
S36T |
probably damaging |
Het |
| Ints3 |
A |
G |
3: 90,320,861 (GRCm39) |
V186A |
probably benign |
Het |
| Jrk |
A |
G |
15: 74,578,529 (GRCm39) |
I252T |
possibly damaging |
Het |
| Kcnh5 |
T |
C |
12: 75,134,365 (GRCm39) |
S395G |
probably benign |
Het |
| Kcnt2 |
C |
T |
1: 140,290,718 (GRCm39) |
P103S |
probably damaging |
Het |
| Klra10 |
T |
C |
6: 130,256,339 (GRCm39) |
K105R |
probably benign |
Het |
| P4ha1 |
A |
T |
10: 59,186,349 (GRCm39) |
K276I |
possibly damaging |
Het |
| Pcyox1 |
A |
G |
6: 86,365,910 (GRCm39) |
S435P |
possibly damaging |
Het |
| Potegl |
T |
C |
2: 23,120,134 (GRCm39) |
Y235H |
possibly damaging |
Het |
| Pramel26 |
A |
T |
4: 143,539,334 (GRCm39) |
M53K |
possibly damaging |
Het |
| R3hdm1 |
A |
T |
1: 128,096,773 (GRCm39) |
N103I |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,302,339 (GRCm39) |
V421A |
probably damaging |
Het |
| Scaf11 |
A |
G |
15: 96,318,335 (GRCm39) |
S410P |
probably benign |
Het |
| Slc16a1 |
A |
G |
3: 104,560,510 (GRCm39) |
T272A |
probably benign |
Het |
| Slco3a1 |
C |
T |
7: 73,968,254 (GRCm39) |
D489N |
probably benign |
Het |
| Slitrk3 |
T |
C |
3: 72,957,095 (GRCm39) |
D559G |
probably damaging |
Het |
| Sntb2 |
G |
A |
8: 107,707,857 (GRCm39) |
G207D |
probably damaging |
Het |
| Spata31f1e |
A |
G |
4: 42,793,065 (GRCm39) |
S356P |
possibly damaging |
Het |
| Spdye4a |
T |
C |
5: 143,211,473 (GRCm39) |
I30M |
possibly damaging |
Het |
| Thumpd1 |
A |
T |
7: 119,316,232 (GRCm39) |
V239E |
probably damaging |
Het |
| Tnfsf15 |
T |
C |
4: 63,663,162 (GRCm39) |
S54G |
probably benign |
Het |
| Tor1aip1 |
A |
G |
1: 155,882,951 (GRCm39) |
I299T |
probably damaging |
Het |
| Tpst2 |
C |
T |
5: 112,456,084 (GRCm39) |
R208C |
probably damaging |
Het |
| Tubgcp2 |
T |
C |
7: 139,587,510 (GRCm39) |
Y285C |
probably damaging |
Het |
| Vav3 |
C |
T |
3: 109,571,681 (GRCm39) |
T201M |
probably damaging |
Het |
| Washc5 |
A |
G |
15: 59,206,959 (GRCm39) |
S1105P |
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 |
|
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 |
|
|
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'- TGTCATCTGACTGAACTAAGGCATG -3'
(R):5'- AGTAGAACCGTAGATCATAGTACAACC -3'
Sequencing Primer
(F):5'- GACTGAACTAAGGCATGTTTAACTGC -3'
(R):5'- CGTAGATCATAGTACAACCACAAAG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation