Incidental Mutation 'R8251:Slu7'
| ID |
640251 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slu7
|
| Ensembl Gene |
ENSMUSG00000020409 |
| Gene Name |
SLU7 splicing factor homolog (S. cerevisiae) |
| Synonyms |
D3Bwg0878e, D11Ertd730e |
| MMRRC Submission |
067677-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8251 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
43324571-43338808 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43330128 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 185
(Y185C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020681
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020681]
[ENSMUST00000126128]
[ENSMUST00000151880]
[ENSMUST00000178622]
|
| AlphaFold |
Q8BHJ9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020681
AA Change: Y185C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000020681
Gene: ENSMUSG00000020409
AA Change: Y185C
| 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 |
probably damaging
Transcript: ENSMUST00000151880
AA Change: Y185C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000116609
Gene: ENSMUSG00000020409
AA Change: Y185C
| 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 damaging
Transcript: ENSMUST00000178622
AA Change: Y185C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000137281
Gene: ENSMUSG00000020409
AA Change: Y185C
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (50/50) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad11 |
A |
T |
9: 103,968,906 (GRCm39) |
D463V |
possibly damaging |
Het |
| Adamtsl4 |
C |
T |
3: 95,591,884 (GRCm39) |
R68Q |
probably damaging |
Het |
| Ankrd12 |
A |
T |
17: 66,291,554 (GRCm39) |
M1293K |
possibly damaging |
Het |
| Arhgap21 |
T |
C |
2: 20,854,221 (GRCm39) |
T1724A |
probably benign |
Het |
| C1qtnf12 |
T |
C |
4: 156,050,916 (GRCm39) |
I295T |
probably damaging |
Het |
| Cacna1s |
G |
T |
1: 136,014,461 (GRCm39) |
G623W |
probably damaging |
Het |
| Cemip2 |
T |
C |
19: 21,784,765 (GRCm39) |
V416A |
possibly damaging |
Het |
| Cenpe |
T |
A |
3: 134,957,445 (GRCm39) |
|
probably null |
Het |
| Cep85l |
A |
T |
10: 53,157,450 (GRCm39) |
I751N |
probably damaging |
Het |
| Corin |
T |
A |
5: 72,514,269 (GRCm39) |
D468V |
probably damaging |
Het |
| Ctsr |
A |
G |
13: 61,310,592 (GRCm39) |
V51A |
probably damaging |
Het |
| Dnah14 |
A |
C |
1: 181,492,430 (GRCm39) |
E1630A |
probably damaging |
Het |
| Dsg4 |
C |
A |
18: 20,604,221 (GRCm39) |
A896E |
probably damaging |
Het |
| Ear2 |
T |
C |
14: 44,340,477 (GRCm39) |
L45P |
probably benign |
Het |
| Fshr |
T |
G |
17: 89,507,913 (GRCm39) |
D43A |
probably benign |
Het |
| Gata6 |
G |
A |
18: 11,054,670 (GRCm39) |
G200S |
probably benign |
Het |
| Gnaq |
T |
A |
19: 16,312,419 (GRCm39) |
M227K |
probably damaging |
Het |
| Ifit1bl1 |
T |
C |
19: 34,572,232 (GRCm39) |
Q75R |
possibly damaging |
Het |
| Impg2 |
A |
G |
16: 56,079,960 (GRCm39) |
E479G |
possibly damaging |
Het |
| Ints7 |
C |
T |
1: 191,353,545 (GRCm39) |
P957L |
unknown |
Het |
| Jmjd1c |
T |
C |
10: 67,075,068 (GRCm39) |
V73A |
noncoding transcript |
Het |
| Kansl1 |
A |
G |
11: 104,315,186 (GRCm39) |
I284T |
probably benign |
Het |
| Kcnj9 |
A |
G |
1: 172,154,089 (GRCm39) |
S12P |
probably benign |
Het |
| Krt16 |
A |
G |
11: 100,139,196 (GRCm39) |
|
probably null |
Het |
| Lrguk |
A |
T |
6: 34,093,374 (GRCm39) |
T632S |
probably benign |
Het |
| Man2b1 |
G |
A |
8: 85,821,758 (GRCm39) |
V687M |
probably damaging |
Het |
| Mroh5 |
T |
C |
15: 73,655,002 (GRCm39) |
E653G |
probably benign |
Het |
| Nabp1 |
A |
T |
1: 51,516,737 (GRCm39) |
S44T |
probably benign |
Het |
| Nt5dc3 |
C |
A |
10: 86,656,091 (GRCm39) |
H256Q |
probably damaging |
Het |
| Or1j15 |
A |
C |
2: 36,459,467 (GRCm39) |
N286H |
probably damaging |
Het |
| Or4a81 |
A |
T |
2: 89,619,567 (GRCm39) |
I43N |
probably damaging |
Het |
| Or5p50 |
A |
G |
7: 107,421,776 (GRCm39) |
I300T |
probably damaging |
Het |
| Pkd2 |
T |
C |
5: 104,646,353 (GRCm39) |
V720A |
probably benign |
Het |
| Pnpla6 |
T |
A |
8: 3,582,399 (GRCm39) |
N706K |
probably benign |
Het |
| Polr1b |
C |
A |
2: 128,965,086 (GRCm39) |
P724Q |
probably damaging |
Het |
| Rbpjl |
A |
G |
2: 164,255,854 (GRCm39) |
E366G |
probably damaging |
Het |
| Runx1t1 |
A |
G |
4: 13,846,947 (GRCm39) |
T244A |
possibly damaging |
Het |
| Slitrk3 |
C |
T |
3: 72,956,729 (GRCm39) |
R681H |
possibly damaging |
Het |
| Snupn |
T |
A |
9: 56,888,137 (GRCm39) |
F231L |
probably damaging |
Het |
| Srpk2 |
G |
A |
5: 23,729,266 (GRCm39) |
P458S |
probably benign |
Het |
| St3gal5 |
T |
A |
6: 72,126,144 (GRCm39) |
F330I |
probably benign |
Het |
| Taf3 |
T |
C |
2: 9,922,962 (GRCm39) |
D878G |
possibly damaging |
Het |
| Tex44 |
A |
G |
1: 86,354,936 (GRCm39) |
N282D |
probably benign |
Het |
| Tmem126a |
T |
C |
7: 90,100,094 (GRCm39) |
I150V |
probably benign |
Het |
| Trbv21 |
A |
G |
6: 41,179,540 (GRCm39) |
|
probably benign |
Het |
| Vmn2r70 |
A |
T |
7: 85,215,186 (GRCm39) |
L116* |
probably null |
Het |
| Vps36 |
A |
G |
8: 22,682,932 (GRCm39) |
T16A |
probably benign |
Het |
| Wdr17 |
C |
A |
8: 55,110,267 (GRCm39) |
G837W |
probably damaging |
Het |
| Zfp397 |
T |
C |
18: 24,093,361 (GRCm39) |
V282A |
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 |
|
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 |
|
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'- AAACGTTGCAGGGAGTCTTCTG -3'
(R):5'- ATACACTGCTGCCAAGTAGGG -3'
Sequencing Primer
(F):5'- CAAGTTCTTAGGGAGAGATCTGC -3'
(R):5'- AGTAGGGCCACCACACC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation