Incidental Mutation 'IGL03198:Snrnp27'
| ID |
412915 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Snrnp27
|
| Ensembl Gene |
ENSMUSG00000001158 |
| Gene Name |
small nuclear ribonucleoprotein 27 (U4/U6.U5) |
| Synonyms |
2610209M04Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03198
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
86652151-86661473 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 86659968 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109313
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001186]
[ENSMUST00000001186]
[ENSMUST00000113683]
[ENSMUST00000113683]
|
| AlphaFold |
Q8K194 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000001186
|
| SMART Domains |
Protein: ENSMUSP00000001186
Gene: ENSMUSG00000001158
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1777
|
1 |
151 |
1.8e-39 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000001186
|
| SMART Domains |
Protein: ENSMUSP00000001186
Gene: ENSMUSG00000001158
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1777
|
1 |
151 |
1.8e-39 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000113683
|
| SMART Domains |
Protein: ENSMUSP00000109313
Gene: ENSMUSG00000001158
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1777
|
1 |
139 |
1.9e-24 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000113683
|
| SMART Domains |
Protein: ENSMUSP00000109313
Gene: ENSMUSG00000001158
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1777
|
1 |
139 |
1.9e-24 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131674
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133404
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204153
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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 |
|---|
| Adhfe1 |
A |
T |
1: 9,620,177 (GRCm39) |
|
probably benign |
Het |
| Atp6v0a2 |
T |
C |
5: 124,789,425 (GRCm39) |
|
probably null |
Het |
| Brca1 |
G |
T |
11: 101,403,537 (GRCm39) |
|
probably benign |
Het |
| Cd55 |
A |
T |
1: 130,368,108 (GRCm39) |
C372S |
probably benign |
Het |
| Clip2 |
A |
T |
5: 134,526,936 (GRCm39) |
|
probably benign |
Het |
| Dgkb |
A |
G |
12: 38,186,615 (GRCm39) |
N262D |
probably damaging |
Het |
| Fam227b |
C |
T |
2: 125,966,499 (GRCm39) |
|
probably null |
Het |
| Foxj2 |
G |
A |
6: 122,809,966 (GRCm39) |
|
probably null |
Het |
| Gm4297 |
T |
A |
X: 24,418,810 (GRCm39) |
|
probably benign |
Het |
| Grik3 |
A |
G |
4: 125,553,555 (GRCm39) |
D429G |
probably benign |
Het |
| Hcfc1 |
T |
C |
X: 72,994,935 (GRCm39) |
I924V |
possibly damaging |
Het |
| Lrrk1 |
A |
G |
7: 65,956,642 (GRCm39) |
V411A |
probably damaging |
Het |
| Mdh1 |
A |
T |
11: 21,514,168 (GRCm39) |
V83E |
probably damaging |
Het |
| Pa2g4 |
A |
G |
10: 128,401,647 (GRCm39) |
V17A |
probably damaging |
Het |
| Podnl1 |
G |
A |
8: 84,858,818 (GRCm39) |
V548I |
probably benign |
Het |
| Polg |
A |
G |
7: 79,101,470 (GRCm39) |
V1079A |
probably damaging |
Het |
| Polr2a |
G |
T |
11: 69,638,107 (GRCm39) |
|
probably null |
Het |
| Ptk2 |
C |
T |
15: 73,108,065 (GRCm39) |
S722N |
probably damaging |
Het |
| Rock2 |
A |
G |
12: 17,025,508 (GRCm39) |
D1243G |
probably benign |
Het |
| Sirt4 |
T |
C |
5: 115,621,061 (GRCm39) |
D37G |
probably benign |
Het |
| Slc35d1 |
T |
C |
4: 103,042,085 (GRCm39) |
Y249C |
probably damaging |
Het |
| Srek1 |
T |
C |
13: 103,881,443 (GRCm39) |
|
probably null |
Het |
| Sspo |
A |
T |
6: 48,454,516 (GRCm39) |
I2951F |
probably benign |
Het |
| Stxbp3 |
A |
G |
3: 108,734,405 (GRCm39) |
F40L |
probably damaging |
Het |
| Sympk |
T |
C |
7: 18,778,921 (GRCm39) |
V604A |
possibly damaging |
Het |
| Tbc1d2b |
T |
C |
9: 90,104,510 (GRCm39) |
Y544C |
probably damaging |
Het |
| Tnpo2 |
C |
T |
8: 85,778,347 (GRCm39) |
T592I |
possibly damaging |
Het |
| Txndc16 |
T |
C |
14: 45,388,941 (GRCm39) |
|
probably benign |
Het |
| Ubr5 |
A |
T |
15: 38,045,964 (GRCm39) |
L120Q |
probably damaging |
Het |
| Wdfy4 |
A |
T |
14: 32,847,844 (GRCm39) |
M836K |
probably damaging |
Het |
| Wdr48 |
A |
G |
9: 119,741,479 (GRCm39) |
N141S |
probably benign |
Het |
| Zc3h7a |
A |
T |
16: 10,980,528 (GRCm39) |
Y28* |
probably null |
Het |
| Zfp423 |
T |
C |
8: 88,508,304 (GRCm39) |
D659G |
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 |
|
|
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 |
|
R9413:Snrnp27
|
UTSW |
6 |
86,653,255 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Posted On |
2016-08-02 |
Incidental Mutation