Incidental Mutation 'R9413:Snrnp27'
ID |
711897 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Snrnp27
|
Ensembl Gene |
ENSMUSG00000001158 |
Gene Name |
small nuclear ribonucleoprotein 27 (U4/U6.U5) |
Synonyms |
2610209M04Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9413 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
86652151-86661473 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 86653255 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 121
(D121G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109313
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001186]
[ENSMUST00000113683]
|
AlphaFold |
Q8K194 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000001186
AA Change: D121G
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000001186 Gene: ENSMUSG00000001158 AA Change: D121G
Domain | Start | End | E-Value | Type |
Pfam:DUF1777
|
1 |
151 |
1.8e-39 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113683
AA Change: D121G
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000109313 Gene: ENSMUSG00000001158 AA Change: D121G
Domain | Start | End | E-Value | Type |
Pfam:DUF1777
|
1 |
139 |
1.9e-24 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
97% (35/36) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine/arginine-rich (SR) protein. SR proteins play important roles in pre-mRNA splicing by facilitating the recognition and selection of splice sites. The encoded protein associates with the 25S U4/U6.U5 tri-snRNP, a major component of the U2-type spiceosome. The expression of this gene may be altered in cells infected with the human T-cell lymphotropic virus type 1 (HTLV-1) retrovirus. A pseudogene of this gene is located on the long arm of chromosome 5. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
A |
T |
7: 120,126,422 (GRCm39) |
T1194S |
probably benign |
Het |
Akr7a5 |
A |
T |
4: 139,038,059 (GRCm39) |
|
probably benign |
Het |
Ap3b2 |
G |
T |
7: 81,127,757 (GRCm39) |
P140T |
possibly damaging |
Het |
Ap3s1 |
T |
C |
18: 46,887,531 (GRCm39) |
|
probably null |
Het |
Arrdc2 |
C |
T |
8: 71,288,892 (GRCm39) |
R381H |
probably damaging |
Het |
Atg13 |
T |
C |
2: 91,511,970 (GRCm39) |
D286G |
probably benign |
Het |
C1qtnf4 |
T |
C |
2: 90,720,648 (GRCm39) |
F307S |
probably damaging |
Het |
Cdk5rap1 |
A |
T |
2: 154,207,880 (GRCm39) |
|
probably null |
Het |
Chsy3 |
C |
T |
18: 59,309,170 (GRCm39) |
A141V |
possibly damaging |
Het |
Creb3l1 |
C |
T |
2: 91,822,231 (GRCm39) |
|
probably null |
Het |
D5Ertd579e |
A |
G |
5: 36,772,278 (GRCm39) |
S706P |
probably damaging |
Het |
Ell2 |
A |
G |
13: 75,917,705 (GRCm39) |
D545G |
|
Het |
Ephb6 |
T |
C |
6: 41,591,509 (GRCm39) |
L222P |
|
Het |
Flnc |
G |
A |
6: 29,441,484 (GRCm39) |
R422Q |
probably benign |
Het |
Gm6619 |
A |
T |
6: 131,468,370 (GRCm39) |
D167V |
unknown |
Het |
Gucy2c |
T |
C |
6: 136,700,771 (GRCm39) |
D581G |
possibly damaging |
Het |
Hectd1 |
G |
A |
12: 51,792,880 (GRCm39) |
R2471* |
probably null |
Het |
Kif1a |
A |
T |
1: 92,949,019 (GRCm39) |
M1501K |
probably benign |
Het |
Mycbpap |
A |
G |
11: 94,392,321 (GRCm39) |
V390A |
probably damaging |
Het |
Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
Pex3 |
A |
G |
10: 13,410,454 (GRCm39) |
Y236H |
probably damaging |
Het |
Pglyrp3 |
G |
T |
3: 91,930,106 (GRCm39) |
A91S |
probably damaging |
Het |
Ppp1ca |
T |
C |
19: 4,244,897 (GRCm39) |
S292P |
probably damaging |
Het |
Prkci |
T |
C |
3: 31,097,915 (GRCm39) |
V455A |
probably damaging |
Het |
Prrx1 |
A |
G |
1: 163,140,182 (GRCm39) |
V8A |
probably benign |
Het |
Psd4 |
C |
T |
2: 24,287,472 (GRCm39) |
T468I |
probably benign |
Het |
Rnf213 |
A |
G |
11: 119,357,059 (GRCm39) |
E4203G |
|
Het |
Spag6 |
A |
T |
2: 18,739,029 (GRCm39) |
M320L |
probably benign |
Het |
Spata16 |
T |
A |
3: 26,978,486 (GRCm39) |
M484K |
possibly damaging |
Het |
Trim69 |
G |
A |
2: 122,009,083 (GRCm39) |
W381* |
probably null |
Het |
Tubgcp3 |
A |
C |
8: 12,674,885 (GRCm39) |
I745S |
probably damaging |
Het |
Ubxn2b |
A |
G |
4: 6,204,607 (GRCm39) |
D156G |
probably damaging |
Het |
Vmn2r103 |
A |
G |
17: 20,032,158 (GRCm39) |
N644S |
possibly damaging |
Het |
|
Other mutations in Snrnp27 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02028:Snrnp27
|
APN |
6 |
86,659,955 (GRCm39) |
missense |
unknown |
|
IGL03198:Snrnp27
|
APN |
6 |
86,659,968 (GRCm39) |
splice site |
probably null |
|
PIT4131001:Snrnp27
|
UTSW |
6 |
86,659,893 (GRCm39) |
missense |
unknown |
|
R0136:Snrnp27
|
UTSW |
6 |
86,653,187 (GRCm39) |
missense |
probably benign |
0.07 |
R0242:Snrnp27
|
UTSW |
6 |
86,652,575 (GRCm39) |
unclassified |
probably benign |
|
R0375:Snrnp27
|
UTSW |
6 |
86,657,935 (GRCm39) |
missense |
possibly damaging |
0.83 |
R2164:Snrnp27
|
UTSW |
6 |
86,653,196 (GRCm39) |
missense |
probably benign |
0.03 |
R5245:Snrnp27
|
UTSW |
6 |
86,659,941 (GRCm39) |
missense |
unknown |
|
R6042:Snrnp27
|
UTSW |
6 |
86,659,902 (GRCm39) |
missense |
unknown |
|
R7667:Snrnp27
|
UTSW |
6 |
86,657,935 (GRCm39) |
missense |
possibly damaging |
0.83 |
R8812:Snrnp27
|
UTSW |
6 |
86,653,196 (GRCm39) |
missense |
probably benign |
0.03 |
R8946:Snrnp27
|
UTSW |
6 |
86,653,226 (GRCm39) |
missense |
probably damaging |
1.00 |
R9330:Snrnp27
|
UTSW |
6 |
86,653,184 (GRCm39) |
missense |
probably benign |
0.03 |
|
Predicted Primers |
PCR Primer
(F):5'- CGGGCAGAGCTAGTTGTTAC -3'
(R):5'- CCCCAAATGACTGCTTATTTGTAC -3'
Sequencing Primer
(F):5'- GTGGCAGATGCTTGTAATCCCAAC -3'
(R):5'- TGACTGCTTATTTGTACACTGTATTG -3'
|
Posted On |
2022-05-16 |