Incidental Mutation 'R2941:Slu7'
| ID |
255181 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slu7
|
| Ensembl Gene |
ENSMUSG00000020409 |
| Gene Name |
SLU7 splicing factor homolog (S. cerevisiae) |
| Synonyms |
D3Bwg0878e, D11Ertd730e |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2941 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
43324571-43338808 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 43335584 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 440
(R440L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137281
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020681]
[ENSMUST00000151880]
[ENSMUST00000178622]
|
| AlphaFold |
Q8BHJ9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020681
AA Change: R440L
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000020681
Gene: ENSMUSG00000020409
AA Change: R440L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
45 |
N/A |
INTRINSIC |
|
ZnF_C2HC
|
119 |
135 |
4.08e-1 |
SMART |
|
Pfam:Slu7
|
160 |
434 |
1.3e-90 |
PFAM |
|
coiled coil region
|
484 |
543 |
N/A |
INTRINSIC |
|
low complexity region
|
555 |
570 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136541
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151880
AA Change: R440L
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000116609
Gene: ENSMUSG00000020409
AA Change: R440L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
45 |
N/A |
INTRINSIC |
|
ZnF_C2HC
|
119 |
135 |
4.08e-1 |
SMART |
|
Pfam:Slu7
|
160 |
434 |
2.4e-91 |
PFAM |
|
low complexity region
|
486 |
497 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178622
AA Change: R440L
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000137281
Gene: ENSMUSG00000020409
AA Change: R440L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
45 |
N/A |
INTRINSIC |
|
ZnF_C2HC
|
119 |
135 |
4.08e-1 |
SMART |
|
Pfam:Slu7
|
161 |
434 |
1.6e-112 |
PFAM |
|
coiled coil region
|
484 |
543 |
N/A |
INTRINSIC |
|
low complexity region
|
555 |
570 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: Pre-mRNA splicing occurs in two sequential transesterification steps. The protein encoded by this gene is a splicing factor that has been found to be essential during the second catalytic step in the pre-mRNA splicing process. It associates with the spliceosome and contains a zinc knuckle motif that is found in other splicing factors and is involved in protein-nucleic acid and protein-protein interactions. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg1l |
G |
T |
10: 42,354,291 (GRCm39) |
|
probably null |
Het |
| Ankrd60 |
A |
G |
2: 173,410,674 (GRCm39) |
L282P |
probably damaging |
Het |
| Avl9 |
T |
C |
6: 56,730,870 (GRCm39) |
V598A |
probably benign |
Het |
| Dgkb |
T |
A |
12: 38,654,122 (GRCm39) |
M747K |
possibly damaging |
Het |
| Elmo1 |
C |
G |
13: 20,784,382 (GRCm39) |
Y646* |
probably null |
Het |
| Fgr |
A |
C |
4: 132,725,734 (GRCm39) |
Y381S |
probably benign |
Het |
| Ggnbp2 |
T |
C |
11: 84,732,407 (GRCm39) |
I271V |
probably damaging |
Het |
| Itprid2 |
T |
A |
2: 79,466,000 (GRCm39) |
D39E |
probably benign |
Het |
| Ltbp1 |
A |
G |
17: 75,486,088 (GRCm39) |
T38A |
probably damaging |
Het |
| Or8b52 |
A |
G |
9: 38,576,322 (GRCm39) |
S273P |
probably damaging |
Het |
| Setbp1 |
C |
A |
18: 78,901,412 (GRCm39) |
V752L |
probably damaging |
Het |
| Slc8a3 |
C |
A |
12: 81,361,953 (GRCm39) |
G289W |
probably damaging |
Het |
| Tacr1 |
T |
A |
6: 82,380,715 (GRCm39) |
I42N |
probably damaging |
Het |
| Tspan32 |
G |
A |
7: 142,568,729 (GRCm39) |
V103M |
probably damaging |
Het |
| Tyk2 |
A |
G |
9: 21,022,415 (GRCm39) |
S805P |
probably benign |
Het |
|
| Other mutations in Slu7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01886:Slu7
|
APN |
11 |
43,330,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02212:Slu7
|
APN |
11 |
43,331,469 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02657:Slu7
|
APN |
11 |
43,332,849 (GRCm39) |
splice site |
probably null |
|
|
IGL02671:Slu7
|
APN |
11 |
43,336,302 (GRCm39) |
splice site |
probably null |
|
|
IGL02702:Slu7
|
APN |
11 |
43,329,719 (GRCm39) |
splice site |
probably benign |
|
|
IGL02720:Slu7
|
APN |
11 |
43,336,030 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02831:Slu7
|
APN |
11 |
43,333,480 (GRCm39) |
nonsense |
probably null |
|
|
IGL03104:Slu7
|
APN |
11 |
43,332,883 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL03106:Slu7
|
APN |
11 |
43,333,457 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0571:Slu7
|
UTSW |
11 |
43,332,405 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1498:Slu7
|
UTSW |
11 |
43,329,044 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1753:Slu7
|
UTSW |
11 |
43,330,095 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1789:Slu7
|
UTSW |
11 |
43,336,069 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2655:Slu7
|
UTSW |
11 |
43,331,475 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3916:Slu7
|
UTSW |
11 |
43,331,511 (GRCm39) |
splice site |
probably null |
|
|
R3917:Slu7
|
UTSW |
11 |
43,331,511 (GRCm39) |
splice site |
probably null |
|
|
R4084:Slu7
|
UTSW |
11 |
43,334,218 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4393:Slu7
|
UTSW |
11 |
43,330,096 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5656:Slu7
|
UTSW |
11 |
43,334,245 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5884:Slu7
|
UTSW |
11 |
43,334,245 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6320:Slu7
|
UTSW |
11 |
43,332,316 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6517:Slu7
|
UTSW |
11 |
43,328,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7763:Slu7
|
UTSW |
11 |
43,335,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7893:Slu7
|
UTSW |
11 |
43,335,663 (GRCm39) |
splice site |
probably null |
|
|
R8023:Slu7
|
UTSW |
11 |
43,336,975 (GRCm39) |
missense |
probably benign |
0.23 |
|
R8251:Slu7
|
UTSW |
11 |
43,330,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8481:Slu7
|
UTSW |
11 |
43,328,321 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8481:Slu7
|
UTSW |
11 |
43,328,320 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8733:Slu7
|
UTSW |
11 |
43,334,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8971:Slu7
|
UTSW |
11 |
43,333,480 (GRCm39) |
missense |
probably benign |
|
|
R9046:Slu7
|
UTSW |
11 |
43,335,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9069:Slu7
|
UTSW |
11 |
43,328,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9184:Slu7
|
UTSW |
11 |
43,334,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9499:Slu7
|
UTSW |
11 |
43,329,095 (GRCm39) |
missense |
probably benign |
0.45 |
|
R9552:Slu7
|
UTSW |
11 |
43,329,095 (GRCm39) |
missense |
probably benign |
0.45 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTTGAAGTTGACCCACCCTCTG -3'
(R):5'- CAGCCTGACTGTCTTACACC -3'
Sequencing Primer
(F):5'- TGTCTCTGTTTTACCCAACAATG -3'
(R):5'- GAGTCCTTGCCTAGCCTTCGAAG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation