Incidental Mutation 'R5884:Slu7'
| ID |
502018 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slu7
|
| Ensembl Gene |
ENSMUSG00000020409 |
| Gene Name |
SLU7 splicing factor homolog (S. cerevisiae) |
| Synonyms |
D3Bwg0878e, D11Ertd730e |
| MMRRC Submission |
044087-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5884 (G1)
|
| Quality Score |
44 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
43324571-43338808 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43334245 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 424
(K424E)
|
| 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: K424E
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000020681
Gene: ENSMUSG00000020409
AA Change: K424E
| 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 |
noncoding transcript
Transcript: ENSMUST00000149402
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151880
AA Change: K424E
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000116609
Gene: ENSMUSG00000020409
AA Change: K424E
| 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: K424E
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000137281
Gene: ENSMUSG00000020409
AA Change: K424E
| 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 |
|
| Meta Mutation Damage Score |
0.0804 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 95.6%
- 20x: 82.8%
|
| Validation Efficiency |
96% (66/69) |
| 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 |
|---|
| Bmp5 |
T |
C |
9: 75,805,836 (GRCm39) |
M446T |
probably damaging |
Het |
| Cacna1g |
C |
T |
11: 94,328,693 (GRCm39) |
A1052T |
probably damaging |
Het |
| Cand1 |
C |
T |
10: 119,049,670 (GRCm39) |
A359T |
possibly damaging |
Het |
| Ccne2 |
A |
T |
4: 11,199,411 (GRCm39) |
T271S |
probably benign |
Het |
| Cep112 |
A |
G |
11: 108,461,142 (GRCm39) |
T546A |
probably damaging |
Het |
| Ces1g |
A |
G |
8: 94,033,558 (GRCm39) |
S455P |
probably benign |
Het |
| Dnah11 |
A |
T |
12: 118,141,269 (GRCm39) |
C496S |
probably benign |
Het |
| Dtx3l |
C |
G |
16: 35,752,603 (GRCm39) |
E668Q |
probably benign |
Het |
| Dysf |
T |
A |
6: 84,163,063 (GRCm39) |
F1579I |
probably damaging |
Het |
| Emx2 |
T |
G |
19: 59,452,461 (GRCm39) |
D248E |
probably damaging |
Het |
| Eri2 |
A |
C |
7: 119,371,552 (GRCm39) |
*275E |
probably null |
Het |
| F5 |
G |
A |
1: 164,023,215 (GRCm39) |
R1591H |
probably benign |
Het |
| Fabp3 |
A |
G |
4: 130,206,131 (GRCm39) |
T41A |
probably benign |
Het |
| Fam89a |
C |
T |
8: 125,478,508 (GRCm39) |
R14H |
probably damaging |
Het |
| Gbe1 |
T |
A |
16: 70,325,763 (GRCm39) |
|
probably null |
Het |
| Golga3 |
A |
G |
5: 110,364,761 (GRCm39) |
E1211G |
probably damaging |
Het |
| Gpa33 |
T |
C |
1: 165,980,329 (GRCm39) |
S131P |
probably damaging |
Het |
| Hyal6 |
T |
C |
6: 24,743,368 (GRCm39) |
Y355H |
probably damaging |
Het |
| Ide |
A |
T |
19: 37,249,552 (GRCm39) |
|
probably null |
Het |
| Ighv5-21 |
A |
T |
12: 114,283,806 (GRCm39) |
|
probably benign |
Het |
| Iglc1 |
A |
T |
16: 18,880,741 (GRCm39) |
|
probably benign |
Het |
| Impa1 |
A |
T |
3: 10,381,284 (GRCm39) |
N199K |
probably damaging |
Het |
| Irx5 |
A |
C |
8: 93,087,258 (GRCm39) |
T397P |
possibly damaging |
Het |
| Lonp2 |
A |
G |
8: 87,368,254 (GRCm39) |
Y356C |
probably damaging |
Het |
| Matn4 |
A |
T |
2: 164,246,528 (GRCm39) |
|
probably benign |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Nav2 |
T |
A |
7: 49,246,917 (GRCm39) |
Y2147* |
probably null |
Het |
| Nek5 |
C |
T |
8: 22,578,817 (GRCm39) |
|
probably null |
Het |
| Omt2b |
A |
G |
9: 78,235,839 (GRCm39) |
M55V |
probably benign |
Het |
| Or5d37 |
A |
G |
2: 87,924,140 (GRCm39) |
Y47H |
probably damaging |
Het |
| Or6z1 |
C |
A |
7: 6,504,842 (GRCm39) |
V128L |
probably benign |
Het |
| Or9g8 |
T |
A |
2: 85,607,399 (GRCm39) |
I157K |
probably damaging |
Het |
| Parp4 |
T |
A |
14: 56,852,207 (GRCm39) |
H796Q |
probably damaging |
Het |
| Pex2 |
T |
C |
3: 5,626,359 (GRCm39) |
E150G |
probably benign |
Het |
| Poglut2 |
T |
C |
1: 44,156,260 (GRCm39) |
N109S |
probably benign |
Het |
| Psmb2 |
T |
A |
4: 126,578,014 (GRCm39) |
V64E |
possibly damaging |
Het |
| Psmd6 |
C |
T |
14: 14,116,526 (GRCm38) |
R63H |
probably damaging |
Het |
| Ptprd |
A |
G |
4: 75,900,927 (GRCm39) |
Y1061H |
probably damaging |
Het |
| Rab23 |
A |
G |
1: 33,763,967 (GRCm39) |
|
probably benign |
Het |
| Rad51ap2 |
GAAAAGGAAACTATTTAAAA |
GAAAA |
12: 11,507,534 (GRCm39) |
|
probably benign |
Het |
| Reg1 |
C |
T |
6: 78,405,200 (GRCm39) |
S141L |
possibly damaging |
Het |
| Rock1 |
A |
T |
18: 10,099,361 (GRCm39) |
I680K |
probably benign |
Het |
| Sez6l2 |
A |
G |
7: 126,569,328 (GRCm39) |
|
probably benign |
Het |
| Slc34a2 |
A |
T |
5: 53,226,722 (GRCm39) |
Q615L |
possibly damaging |
Het |
| Tctn2 |
A |
T |
5: 124,741,895 (GRCm39) |
|
noncoding transcript |
Het |
| Tmem87a |
T |
A |
2: 120,234,605 (GRCm39) |
|
probably benign |
Het |
| Trappc4 |
A |
G |
9: 44,315,385 (GRCm39) |
F198L |
probably damaging |
Het |
| Usp33 |
C |
T |
3: 152,073,967 (GRCm39) |
T271I |
probably benign |
Het |
| Vmn1r15 |
T |
A |
6: 57,235,993 (GRCm39) |
I287K |
probably damaging |
Het |
| Vmn2r75 |
A |
C |
7: 85,814,578 (GRCm39) |
I305R |
probably benign |
Het |
| Wdr26 |
T |
C |
1: 181,015,106 (GRCm39) |
|
probably benign |
Het |
| Zzz3 |
T |
C |
3: 152,156,295 (GRCm39) |
S684P |
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 |
|
|
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 |
|
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'- GGAAACTTCTTATTTACCCGGAAAG -3'
(R):5'- TTCTGGGTAAGCATGCAGATG -3'
Sequencing Primer
(F):5'- TTAGCCCAGACAGAAGAC -3'
(R):5'- TAAGCTAAGCCGTCAGC -3'
|
| Posted On |
2018-02-19 |
Incidental Mutation