Incidental Mutation 'R8023:Slu7'
ID |
617543 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slu7
|
Ensembl Gene |
ENSMUSG00000020409 |
Gene Name |
SLU7 splicing factor homolog (S. cerevisiae) |
Synonyms |
D3Bwg0878e, D11Ertd730e |
MMRRC Submission |
067462-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8023 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
43324571-43338808 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 43336975 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 572
(R572Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020681
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020681]
[ENSMUST00000151880]
[ENSMUST00000178622]
|
AlphaFold |
Q8BHJ9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020681
AA Change: R572Q
PolyPhen 2
Score 0.234 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000020681 Gene: ENSMUSG00000020409 AA Change: R572Q
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: 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
AA Change: R572Q
PolyPhen 2
Score 0.234 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000137281 Gene: ENSMUSG00000020409 AA Change: R572Q
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: 99.3%
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsbg2 |
A |
G |
17: 57,152,448 (GRCm39) |
Y665H |
probably damaging |
Het |
Acte1 |
T |
C |
7: 143,445,528 (GRCm39) |
S192P |
probably damaging |
Het |
Agbl4 |
T |
A |
4: 111,474,345 (GRCm39) |
V378E |
probably benign |
Het |
Card9 |
T |
C |
2: 26,247,327 (GRCm39) |
D274G |
probably benign |
Het |
Ccnc |
T |
C |
4: 21,747,578 (GRCm39) |
|
probably null |
Het |
Col1a2 |
T |
G |
6: 4,533,847 (GRCm39) |
S843A |
unknown |
Het |
Cux1 |
T |
A |
5: 136,402,251 (GRCm39) |
I111F |
probably damaging |
Het |
Fam24b |
A |
C |
7: 130,927,869 (GRCm39) |
S107A |
probably benign |
Het |
Fndc7 |
C |
T |
3: 108,774,461 (GRCm39) |
C599Y |
probably damaging |
Het |
Gm3604 |
G |
A |
13: 62,517,683 (GRCm39) |
A225V |
probably damaging |
Het |
Grhl3 |
A |
G |
4: 135,277,640 (GRCm39) |
V475A |
probably benign |
Het |
H2ac20 |
A |
G |
3: 96,128,106 (GRCm39) |
S19P |
unknown |
Het |
Heg1 |
T |
A |
16: 33,550,895 (GRCm39) |
V958E |
possibly damaging |
Het |
Hibch |
T |
C |
1: 52,899,197 (GRCm39) |
M30T |
probably benign |
Het |
Hk2 |
T |
A |
6: 82,705,790 (GRCm39) |
M838L |
probably benign |
Het |
Hpd |
A |
G |
5: 123,314,297 (GRCm39) |
F206S |
probably damaging |
Het |
Il34 |
C |
T |
8: 111,469,284 (GRCm39) |
C177Y |
probably damaging |
Het |
Il6ra |
A |
G |
3: 89,820,260 (GRCm39) |
|
probably null |
Het |
Itpr2 |
A |
G |
6: 146,088,988 (GRCm39) |
I2240T |
probably damaging |
Het |
Med24 |
A |
G |
11: 98,609,321 (GRCm39) |
|
probably null |
Het |
Mpz |
A |
G |
1: 170,987,602 (GRCm39) |
D246G |
probably damaging |
Het |
Ncam1 |
C |
A |
9: 49,421,057 (GRCm39) |
A753S |
probably benign |
Het |
Ndufs2 |
A |
T |
1: 171,064,263 (GRCm39) |
M375K |
probably damaging |
Het |
Obox2 |
A |
G |
7: 15,131,145 (GRCm39) |
K84E |
possibly damaging |
Het |
Or4c31 |
A |
G |
2: 88,292,022 (GRCm39) |
I132V |
probably benign |
Het |
Or51k1 |
A |
G |
7: 103,661,006 (GRCm39) |
I301T |
probably damaging |
Het |
Or7e178 |
C |
T |
9: 20,225,545 (GRCm39) |
V224I |
probably benign |
Het |
Pds5a |
A |
T |
5: 65,795,241 (GRCm39) |
L665Q |
probably damaging |
Het |
Prr29 |
A |
G |
11: 106,267,099 (GRCm39) |
E38G |
probably benign |
Het |
Ptpn3 |
G |
C |
4: 57,248,688 (GRCm39) |
D215E |
probably benign |
Het |
Ptprq |
G |
A |
10: 107,488,477 (GRCm39) |
Q987* |
probably null |
Het |
Ranbp6 |
T |
C |
19: 29,789,222 (GRCm39) |
S377G |
possibly damaging |
Het |
Rps6ka1 |
A |
T |
4: 133,594,506 (GRCm39) |
L168Q |
probably damaging |
Het |
Sall1 |
A |
G |
8: 89,759,171 (GRCm39) |
I311T |
probably damaging |
Het |
Satb2 |
T |
C |
1: 56,930,390 (GRCm39) |
Y211C |
probably damaging |
Het |
Sis |
T |
A |
3: 72,859,813 (GRCm39) |
Y314F |
probably damaging |
Het |
Slc1a7 |
G |
A |
4: 107,869,473 (GRCm39) |
V513M |
probably benign |
Het |
Slc6a20a |
T |
C |
9: 123,489,657 (GRCm39) |
N129D |
probably damaging |
Het |
Tbx6 |
C |
T |
7: 126,382,031 (GRCm39) |
A123V |
possibly damaging |
Het |
Tcn2 |
A |
T |
11: 3,877,579 (GRCm39) |
I23K |
possibly damaging |
Het |
Tiparp |
A |
G |
3: 65,439,224 (GRCm39) |
D180G |
probably benign |
Het |
Tln2 |
A |
G |
9: 67,131,346 (GRCm39) |
L1400P |
probably damaging |
Het |
Ttf2 |
T |
C |
3: 100,863,571 (GRCm39) |
T588A |
probably benign |
Het |
Ttn |
A |
G |
2: 76,769,564 (GRCm39) |
V2741A |
unknown |
Het |
Txlna |
A |
T |
4: 129,533,278 (GRCm39) |
S83R |
probably damaging |
Het |
Vmn2r16 |
C |
T |
5: 109,488,272 (GRCm39) |
Q382* |
probably null |
Het |
Vmn2r76 |
A |
G |
7: 85,879,028 (GRCm39) |
V424A |
probably benign |
Het |
Zfc3h1 |
T |
A |
10: 115,256,553 (GRCm39) |
L1508I |
probably damaging |
Het |
Zfp189 |
G |
A |
4: 49,530,312 (GRCm39) |
G472R |
probably damaging |
Het |
Zfp462 |
G |
A |
4: 55,073,106 (GRCm39) |
|
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 |
|
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 |
|
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'- GGGGCTGACTCCATTCTTTC -3'
(R):5'- GTTGAGAAGACTTTGAGACTTCAG -3'
Sequencing Primer
(F):5'- GATAGAACACTCTATTCCATGGGGC -3'
(R):5'- GCTGGAAAGAACATGCTG -3'
|
Posted On |
2020-01-23 |