Incidental Mutation 'IGL03106:Slu7'
| ID |
418984 |
| 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 # |
IGL03106
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
43324571-43338808 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 43333457 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 359
(V359D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137281
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020681]
[ENSMUST00000126128]
[ENSMUST00000151880]
[ENSMUST00000178622]
|
| AlphaFold |
Q8BHJ9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020681
AA Change: V359D
PolyPhen 2
Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000020681
Gene: ENSMUSG00000020409
AA Change: V359D
| 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
AA Change: V359D
PolyPhen 2
Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000116609
Gene: ENSMUSG00000020409
AA Change: V359D
| 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 |
possibly damaging
Transcript: ENSMUST00000178622
AA Change: V359D
PolyPhen 2
Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000137281
Gene: ENSMUSG00000020409
AA Change: V359D
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam3 |
G |
T |
8: 25,205,135 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,621,018 (GRCm39) |
N3911S |
probably benign |
Het |
| Alox12b |
C |
T |
11: 69,059,702 (GRCm39) |
Q585* |
probably null |
Het |
| Amtn |
A |
G |
5: 88,525,944 (GRCm39) |
Q36R |
probably benign |
Het |
| Arg2 |
G |
A |
12: 79,196,665 (GRCm39) |
G129S |
probably damaging |
Het |
| Arhgef28 |
A |
C |
13: 98,094,301 (GRCm39) |
Y948D |
probably damaging |
Het |
| Atp10b |
T |
C |
11: 43,138,304 (GRCm39) |
V1195A |
probably benign |
Het |
| Bet1l |
G |
T |
7: 140,434,523 (GRCm39) |
T42K |
probably benign |
Het |
| Cabin1 |
G |
A |
10: 75,569,462 (GRCm39) |
T875I |
probably benign |
Het |
| Ccdc17 |
A |
G |
4: 116,454,033 (GRCm39) |
|
probably null |
Het |
| Crebrf |
A |
G |
17: 26,990,293 (GRCm39) |
E612G |
probably damaging |
Het |
| Cyp2c67 |
A |
T |
19: 39,632,119 (GRCm39) |
M83K |
probably benign |
Het |
| Dgkz |
A |
G |
2: 91,771,204 (GRCm39) |
S414P |
probably damaging |
Het |
| Dock10 |
G |
T |
1: 80,546,551 (GRCm39) |
H411N |
probably damaging |
Het |
| Dpyd |
A |
T |
3: 118,988,783 (GRCm39) |
T749S |
probably benign |
Het |
| Dsc1 |
C |
T |
18: 20,219,701 (GRCm39) |
|
probably null |
Het |
| Echdc1 |
A |
T |
10: 29,198,276 (GRCm39) |
M74L |
probably damaging |
Het |
| Edn1 |
C |
A |
13: 42,458,499 (GRCm39) |
T104K |
possibly damaging |
Het |
| Fat2 |
T |
A |
11: 55,202,727 (GRCm39) |
T116S |
probably benign |
Het |
| Fcrl5 |
A |
T |
3: 87,343,190 (GRCm39) |
|
probably null |
Het |
| Fpgt |
C |
T |
3: 154,792,759 (GRCm39) |
G423R |
probably damaging |
Het |
| Gprc5b |
A |
T |
7: 118,583,416 (GRCm39) |
V151E |
probably damaging |
Het |
| Grm5 |
A |
G |
7: 87,685,278 (GRCm39) |
Y465C |
probably damaging |
Het |
| Idh3b |
T |
A |
2: 130,126,321 (GRCm39) |
N6I |
probably benign |
Het |
| Ighmbp2 |
T |
C |
19: 3,323,022 (GRCm39) |
K308R |
possibly damaging |
Het |
| Lrch1 |
A |
T |
14: 75,073,202 (GRCm39) |
S146T |
possibly damaging |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Mterf3 |
T |
C |
13: 67,078,221 (GRCm39) |
K16R |
probably damaging |
Het |
| Ncapg |
T |
A |
5: 45,853,010 (GRCm39) |
H825Q |
probably damaging |
Het |
| Or2t1 |
G |
A |
14: 14,328,851 (GRCm38) |
V247I |
probably damaging |
Het |
| Or2y1f |
T |
A |
11: 49,184,988 (GRCm39) |
I280N |
probably damaging |
Het |
| Or4d5 |
A |
G |
9: 40,012,030 (GRCm39) |
V252A |
probably damaging |
Het |
| Or5b95 |
G |
A |
19: 12,658,287 (GRCm39) |
V272M |
possibly damaging |
Het |
| Or5t15 |
A |
C |
2: 86,681,958 (GRCm39) |
L28R |
possibly damaging |
Het |
| Or5w15 |
A |
T |
2: 87,568,462 (GRCm39) |
S69T |
probably benign |
Het |
| Pald1 |
A |
T |
10: 61,182,884 (GRCm39) |
M355K |
probably benign |
Het |
| Phc1 |
A |
G |
6: 122,300,428 (GRCm39) |
|
probably benign |
Het |
| Phkb |
T |
A |
8: 86,745,095 (GRCm39) |
|
probably benign |
Het |
| Pkn3 |
G |
T |
2: 29,975,257 (GRCm39) |
R506L |
probably damaging |
Het |
| Plod2 |
T |
C |
9: 92,455,620 (GRCm39) |
Y100H |
probably damaging |
Het |
| Prl7b1 |
G |
T |
13: 27,790,918 (GRCm39) |
Q56K |
probably benign |
Het |
| Rhot1 |
T |
A |
11: 80,133,407 (GRCm39) |
C229* |
probably null |
Het |
| Sema3a |
G |
A |
5: 13,649,456 (GRCm39) |
R735Q |
probably damaging |
Het |
| Slc18b1 |
A |
G |
10: 23,702,557 (GRCm39) |
*460W |
probably null |
Het |
| Slco6c1 |
T |
A |
1: 96,993,748 (GRCm39) |
|
probably benign |
Het |
| Suco |
T |
C |
1: 161,662,049 (GRCm39) |
Y794C |
possibly damaging |
Het |
| Sult3a2 |
T |
C |
10: 33,655,769 (GRCm39) |
N70S |
probably benign |
Het |
| Taar2 |
A |
T |
10: 23,817,195 (GRCm39) |
D245V |
probably damaging |
Het |
| Taf1d |
A |
G |
9: 15,221,237 (GRCm39) |
H181R |
possibly damaging |
Het |
| Tmem33 |
T |
C |
5: 67,421,139 (GRCm39) |
S38P |
probably damaging |
Het |
| Traf3ip1 |
T |
C |
1: 91,450,609 (GRCm39) |
S519P |
probably benign |
Het |
| Ttc12 |
T |
C |
9: 49,369,362 (GRCm39) |
K253E |
possibly 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 |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation