Incidental Mutation 'IGL02702:Slu7'
| ID |
304186 |
| 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 # |
IGL02702
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
43324571-43338808 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 43329719 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137281
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020681]
[ENSMUST00000126128]
[ENSMUST00000151880]
[ENSMUST00000178622]
|
| AlphaFold |
Q8BHJ9 |
| Predicted Effect |
probably benign
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 |
probably benign
Transcript: ENSMUST00000126128
|
| SMART Domains |
Protein: ENSMUSP00000122142
Gene: ENSMUSG00000020409
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
45 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136541
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149402
|
| 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 benign
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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb1 |
C |
T |
6: 88,815,120 (GRCm39) |
V337I |
probably benign |
Het |
| Adam11 |
G |
A |
11: 102,667,864 (GRCm39) |
V750I |
probably benign |
Het |
| Alms1 |
T |
C |
6: 85,576,831 (GRCm39) |
V129A |
probably benign |
Het |
| Cacna1d |
T |
A |
14: 29,845,490 (GRCm39) |
K560* |
probably null |
Het |
| Cntn1 |
A |
G |
15: 92,189,482 (GRCm39) |
|
probably benign |
Het |
| Cpne2 |
T |
C |
8: 95,296,651 (GRCm39) |
V530A |
probably benign |
Het |
| Fbxo21 |
T |
C |
5: 118,138,575 (GRCm39) |
L507P |
probably damaging |
Het |
| Fndc4 |
T |
C |
5: 31,451,079 (GRCm39) |
K204R |
probably damaging |
Het |
| Gnrhr |
G |
T |
5: 86,330,128 (GRCm39) |
N297K |
possibly damaging |
Het |
| Grin2b |
A |
G |
6: 135,716,130 (GRCm39) |
F729S |
probably damaging |
Het |
| Hdac3 |
C |
A |
18: 38,074,147 (GRCm39) |
R359L |
probably benign |
Het |
| Met |
T |
C |
6: 17,534,142 (GRCm39) |
S662P |
possibly damaging |
Het |
| Mphosph9 |
T |
A |
5: 124,398,052 (GRCm39) |
E1081D |
probably damaging |
Het |
| Mycbp2 |
T |
G |
14: 103,457,560 (GRCm39) |
T1546P |
probably benign |
Het |
| Nlrp9a |
T |
A |
7: 26,264,381 (GRCm39) |
M767K |
possibly damaging |
Het |
| Olfm5 |
A |
G |
7: 103,803,564 (GRCm39) |
Y300H |
probably damaging |
Het |
| Or8b47 |
T |
A |
9: 38,435,856 (GRCm39) |
V276D |
probably damaging |
Het |
| Pcf11 |
A |
T |
7: 92,310,826 (GRCm39) |
N178K |
possibly damaging |
Het |
| Polr3a |
T |
C |
14: 24,520,945 (GRCm39) |
I571M |
probably benign |
Het |
| Ppef2 |
T |
A |
5: 92,379,678 (GRCm39) |
R557W |
probably benign |
Het |
| Prelid3a |
T |
A |
18: 67,606,864 (GRCm39) |
D85E |
probably damaging |
Het |
| Rb1cc1 |
A |
G |
1: 6,310,247 (GRCm39) |
E215G |
probably damaging |
Het |
| Rbm12 |
C |
T |
2: 155,937,480 (GRCm39) |
|
probably benign |
Het |
| Recql4 |
C |
T |
15: 76,591,485 (GRCm39) |
G501R |
probably damaging |
Het |
| Sema3e |
T |
C |
5: 14,283,740 (GRCm39) |
|
probably benign |
Het |
| Shisa6 |
A |
C |
11: 66,110,788 (GRCm39) |
L318V |
probably damaging |
Het |
| Spink12 |
T |
C |
18: 44,237,836 (GRCm39) |
V38A |
probably benign |
Het |
| Syne2 |
A |
G |
12: 76,144,698 (GRCm39) |
D1549G |
probably damaging |
Het |
| Tet1 |
A |
G |
10: 62,715,531 (GRCm39) |
V88A |
possibly damaging |
Het |
| Tmem200a |
C |
T |
10: 25,869,501 (GRCm39) |
G256D |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,714,835 (GRCm39) |
|
probably benign |
Het |
| Ugt2b34 |
T |
C |
5: 87,040,750 (GRCm39) |
I391V |
probably benign |
Het |
| Zfp292 |
A |
T |
4: 34,809,415 (GRCm39) |
L1215I |
probably benign |
Het |
| Zfp410 |
C |
A |
12: 84,372,550 (GRCm39) |
N125K |
probably damaging |
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 |
|
|
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 |
Incidental Mutation