Incidental Mutation 'IGL02671:Slu7'
ID |
302941 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL02671
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
43324571-43338808 bp(+) (GRCm39) |
Type of Mutation |
splice site (3 bp from exon) |
DNA Base Change (assembly) |
A to G
at 43336302 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137281
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020681]
[ENSMUST00000151880]
[ENSMUST00000178622]
|
AlphaFold |
Q8BHJ9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000020681
|
SMART Domains |
Protein: ENSMUSP00000020681 Gene: ENSMUSG00000020409
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
|
SMART Domains |
Protein: ENSMUSP00000116609 Gene: ENSMUSG00000020409
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 null
Transcript: ENSMUST00000178622
|
SMART Domains |
Protein: ENSMUSP00000137281 Gene: ENSMUSG00000020409
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 |
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9030612E09Rik |
T |
A |
10: 43,050,887 (GRCm39) |
H60Q |
probably benign |
Het |
Agrn |
C |
T |
4: 156,259,018 (GRCm39) |
|
probably benign |
Het |
Angpt1 |
C |
T |
15: 42,539,790 (GRCm39) |
R23H |
possibly damaging |
Het |
Cadps |
T |
A |
14: 12,491,824 (GRCm38) |
E775D |
probably damaging |
Het |
Cdc42bpa |
T |
A |
1: 179,889,387 (GRCm39) |
M211K |
probably benign |
Het |
Cfap410 |
A |
T |
10: 77,816,384 (GRCm39) |
|
probably benign |
Het |
Clec16a |
A |
G |
16: 10,445,245 (GRCm39) |
M77V |
probably benign |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Cyp27b1 |
G |
T |
10: 126,886,912 (GRCm39) |
|
probably null |
Het |
Eef1d |
A |
G |
15: 75,767,654 (GRCm39) |
I240T |
probably damaging |
Het |
Fras1 |
T |
A |
5: 96,876,475 (GRCm39) |
F2403I |
possibly damaging |
Het |
Ighv1-47 |
C |
T |
12: 114,955,018 (GRCm39) |
V21I |
possibly damaging |
Het |
Kank1 |
T |
C |
19: 25,405,459 (GRCm39) |
L1159P |
probably damaging |
Het |
Kif12 |
T |
C |
4: 63,088,694 (GRCm39) |
E202G |
probably benign |
Het |
Kif17 |
A |
G |
4: 138,015,372 (GRCm39) |
D315G |
possibly damaging |
Het |
Mcam |
T |
C |
9: 44,048,331 (GRCm39) |
|
probably benign |
Het |
Mpdz |
A |
T |
4: 81,208,510 (GRCm39) |
D1778E |
probably damaging |
Het |
Numbl |
C |
T |
7: 26,964,327 (GRCm39) |
R46W |
probably damaging |
Het |
Or1af1 |
A |
T |
2: 37,110,257 (GRCm39) |
Y252F |
probably damaging |
Het |
Or6d13 |
C |
T |
6: 116,518,104 (GRCm39) |
T230I |
possibly damaging |
Het |
Pde3b |
T |
C |
7: 114,122,580 (GRCm39) |
V716A |
possibly damaging |
Het |
Plcg1 |
T |
A |
2: 160,597,672 (GRCm39) |
Y771* |
probably null |
Het |
Pramel5 |
A |
G |
4: 143,999,682 (GRCm39) |
V135A |
probably benign |
Het |
Taf2 |
C |
T |
15: 54,897,572 (GRCm39) |
V919I |
probably benign |
Het |
Tcf12 |
G |
A |
9: 72,016,999 (GRCm39) |
T36M |
probably damaging |
Het |
Tlr11 |
A |
T |
14: 50,598,149 (GRCm39) |
D45V |
probably damaging |
Het |
Tmem132b |
A |
G |
5: 125,855,791 (GRCm39) |
T508A |
probably damaging |
Het |
Trf |
C |
T |
9: 103,089,181 (GRCm39) |
E569K |
probably benign |
Het |
Trim24 |
T |
C |
6: 37,937,719 (GRCm39) |
C875R |
probably damaging |
Het |
Usf3 |
A |
G |
16: 44,042,144 (GRCm39) |
N2208S |
probably damaging |
Het |
Usp14 |
A |
G |
18: 9,997,196 (GRCm39) |
V436A |
probably damaging |
Het |
Vwa5b1 |
G |
A |
4: 138,296,437 (GRCm39) |
R1197* |
probably null |
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 |
|
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 |
R2941:Slu7
|
UTSW |
11 |
43,335,584 (GRCm39) |
missense |
probably benign |
0.06 |
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 |
|
Posted On |
2015-04-16 |