Incidental Mutation 'R8354:Setbp1'
ID |
660637 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Setbp1
|
Ensembl Gene |
ENSMUSG00000024548 |
Gene Name |
SET binding protein 1 |
Synonyms |
Seb |
MMRRC Submission |
067806-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.625)
|
Stock # |
R8354 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
78793595-79152606 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 78900598 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 1023
(V1023E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025430
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025430]
|
AlphaFold |
Q9Z180 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025430
AA Change: V1023E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000025430 Gene: ENSMUSG00000024548 AA Change: V1023E
Domain | Start | End | E-Value | Type |
low complexity region
|
155 |
165 |
N/A |
INTRINSIC |
low complexity region
|
221 |
251 |
N/A |
INTRINSIC |
low complexity region
|
278 |
286 |
N/A |
INTRINSIC |
AT_hook
|
528 |
540 |
4.64e-1 |
SMART |
low complexity region
|
565 |
571 |
N/A |
INTRINSIC |
low complexity region
|
594 |
617 |
N/A |
INTRINSIC |
low complexity region
|
878 |
887 |
N/A |
INTRINSIC |
AT_hook
|
960 |
972 |
1.89e-1 |
SMART |
low complexity region
|
1086 |
1103 |
N/A |
INTRINSIC |
low complexity region
|
1316 |
1337 |
N/A |
INTRINSIC |
AT_hook
|
1393 |
1405 |
7.27e-1 |
SMART |
low complexity region
|
1462 |
1486 |
N/A |
INTRINSIC |
low complexity region
|
1498 |
1514 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
99% (70/71) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which contains a several motifs including a ski homology region and a SET-binding region in addition to three nuclear localization signals. The encoded protein has been shown to bind the SET nuclear oncogene which is involved in DNA replication. Mutations in this gene are associated with Schinzel-Giedion midface retraction syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd12 |
A |
T |
2: 150,676,297 (GRCm39) |
S353R |
probably damaging |
Het |
Ap1ar |
T |
C |
3: 127,606,428 (GRCm39) |
|
probably null |
Het |
Asxl1 |
C |
A |
2: 153,235,345 (GRCm39) |
N213K |
probably benign |
Het |
Cacna1e |
A |
G |
1: 154,274,314 (GRCm39) |
V2197A |
probably damaging |
Het |
Cacna2d2 |
G |
A |
9: 107,401,334 (GRCm39) |
E706K |
possibly damaging |
Het |
Cfap46 |
C |
T |
7: 139,233,414 (GRCm39) |
V296I |
probably benign |
Het |
Cldn5 |
A |
G |
16: 18,596,043 (GRCm39) |
T100A |
probably benign |
Het |
Ctnna1 |
C |
A |
18: 35,385,776 (GRCm39) |
N802K |
possibly damaging |
Het |
Dennd2b |
G |
A |
7: 109,124,755 (GRCm39) |
R675* |
probably null |
Het |
Dip2c |
A |
G |
13: 9,671,918 (GRCm39) |
T968A |
probably benign |
Het |
Dnaaf5 |
ACCCAGCACCTGGAGATCGTCC |
ACC |
5: 139,147,614 (GRCm39) |
|
probably null |
Het |
Dnah8 |
A |
T |
17: 30,862,234 (GRCm39) |
D203V |
probably benign |
Het |
Dnajc13 |
A |
G |
9: 104,094,927 (GRCm39) |
M585T |
probably damaging |
Het |
Donson |
G |
T |
16: 91,480,685 (GRCm39) |
T262K |
possibly damaging |
Het |
E2f3 |
T |
A |
13: 30,169,787 (GRCm39) |
|
probably benign |
Het |
Fam110c |
A |
G |
12: 31,125,178 (GRCm39) |
E380G |
possibly damaging |
Het |
Gbp9 |
T |
G |
5: 105,242,027 (GRCm39) |
T177P |
probably damaging |
Het |
Gins3 |
C |
T |
8: 96,364,646 (GRCm39) |
A132V |
probably benign |
Het |
Glra3 |
T |
A |
8: 56,578,345 (GRCm39) |
Y467* |
probably null |
Het |
Gm7138 |
A |
G |
10: 77,612,444 (GRCm39) |
|
probably benign |
Het |
Golim4 |
T |
C |
3: 75,802,308 (GRCm39) |
E328G |
probably damaging |
Het |
Habp2 |
T |
A |
19: 56,301,388 (GRCm39) |
C270* |
probably null |
Het |
Hecw2 |
A |
G |
1: 53,964,467 (GRCm39) |
|
probably null |
Het |
Hmcn1 |
A |
T |
1: 150,634,142 (GRCm39) |
Y815N |
possibly damaging |
Het |
Igfn1 |
A |
T |
1: 135,887,619 (GRCm39) |
C2482S |
possibly damaging |
Het |
Igkv4-71 |
A |
G |
6: 69,220,260 (GRCm39) |
V57A |
probably damaging |
Het |
Itpkb |
G |
A |
1: 180,160,908 (GRCm39) |
E345K |
possibly damaging |
Het |
Itpr3 |
G |
A |
17: 27,334,893 (GRCm39) |
V2136M |
possibly damaging |
Het |
Kcnh3 |
A |
G |
15: 99,127,211 (GRCm39) |
T336A |
probably damaging |
Het |
Kdm4d |
T |
C |
9: 14,375,235 (GRCm39) |
T208A |
possibly damaging |
Het |
Kntc1 |
T |
C |
5: 123,916,330 (GRCm39) |
F721S |
probably damaging |
Het |
Krt10 |
A |
G |
11: 99,280,086 (GRCm39) |
|
probably benign |
Het |
Lgals3bp |
T |
A |
11: 118,289,367 (GRCm39) |
N28I |
probably damaging |
Het |
Matn2 |
T |
C |
15: 34,378,843 (GRCm39) |
L293P |
probably damaging |
Het |
Mical3 |
T |
C |
6: 120,950,381 (GRCm39) |
E1010G |
probably damaging |
Het |
Mpp4 |
C |
A |
1: 59,169,224 (GRCm39) |
R380L |
probably damaging |
Het |
Msh5 |
A |
G |
17: 35,250,742 (GRCm39) |
F469L |
possibly damaging |
Het |
Ncam2 |
A |
G |
16: 81,309,847 (GRCm39) |
T446A |
probably benign |
Het |
Neurl4 |
A |
G |
11: 69,800,062 (GRCm39) |
D1050G |
probably damaging |
Het |
Olfml2b |
T |
C |
1: 170,509,793 (GRCm39) |
Y714H |
possibly damaging |
Het |
Or5d43 |
T |
C |
2: 88,105,036 (GRCm39) |
D119G |
probably damaging |
Het |
Or8c17 |
T |
C |
9: 38,180,513 (GRCm39) |
S235P |
probably benign |
Het |
Pcnx2 |
T |
C |
8: 126,488,357 (GRCm39) |
E1729G |
probably damaging |
Het |
Peg10 |
GCACATCAGGATCC |
GCACATCAGGATCCCCATCAGGATCCTCCACATCAGGATCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
Pex1 |
T |
A |
5: 3,681,707 (GRCm39) |
L1051Q |
probably damaging |
Het |
Prkag2 |
T |
A |
5: 25,074,137 (GRCm39) |
R283* |
probably null |
Het |
Prrc1 |
T |
A |
18: 57,504,503 (GRCm39) |
M238K |
probably damaging |
Het |
Ptprj |
T |
C |
2: 90,300,061 (GRCm39) |
T247A |
probably benign |
Het |
Ptprz1 |
A |
G |
6: 22,999,614 (GRCm39) |
Y568C |
probably damaging |
Het |
Rab36 |
G |
A |
10: 74,884,291 (GRCm39) |
A114T |
probably damaging |
Het |
Rfx7 |
T |
C |
9: 72,526,731 (GRCm39) |
V1307A |
probably benign |
Het |
Scaf1 |
A |
C |
7: 44,657,251 (GRCm39) |
|
probably benign |
Het |
Sema4g |
A |
T |
19: 44,986,866 (GRCm39) |
T440S |
probably benign |
Het |
Slc46a2 |
T |
C |
4: 59,913,931 (GRCm39) |
I331V |
possibly damaging |
Het |
Slc4a7 |
C |
T |
14: 14,786,313 (GRCm38) |
R1000C |
probably damaging |
Het |
Sorcs2 |
T |
C |
5: 36,222,753 (GRCm39) |
H162R |
probably benign |
Het |
Spata31f1e |
T |
A |
4: 42,793,223 (GRCm39) |
H303L |
probably benign |
Het |
Strip2 |
G |
A |
6: 29,920,531 (GRCm39) |
|
probably null |
Het |
Stx2 |
T |
A |
5: 129,071,932 (GRCm39) |
I42L |
probably benign |
Het |
Tas2r124 |
A |
T |
6: 132,732,410 (GRCm39) |
T240S |
probably benign |
Het |
Tgfbrap1 |
A |
T |
1: 43,115,070 (GRCm39) |
V10D |
probably damaging |
Het |
Tmem41a |
T |
A |
16: 21,766,181 (GRCm39) |
Y19F |
probably benign |
Het |
Tmprss5 |
A |
G |
9: 49,018,439 (GRCm39) |
T74A |
possibly damaging |
Het |
Trim16 |
G |
T |
11: 62,727,587 (GRCm39) |
R216L |
probably benign |
Het |
Trmt10c |
T |
C |
16: 55,854,870 (GRCm39) |
K255R |
probably benign |
Het |
Trpm2 |
A |
T |
10: 77,769,483 (GRCm39) |
V747E |
probably damaging |
Het |
Ube2v2 |
T |
C |
16: 15,399,005 (GRCm39) |
D28G |
possibly damaging |
Het |
Uty |
G |
A |
Y: 1,157,928 (GRCm39) |
T705I |
possibly damaging |
Het |
Vmn2r80 |
A |
T |
10: 78,984,710 (GRCm39) |
I21F |
probably benign |
Het |
Wdr11 |
T |
C |
7: 129,204,723 (GRCm39) |
L176S |
probably damaging |
Het |
Zfp992 |
A |
G |
4: 146,551,319 (GRCm39) |
T347A |
probably benign |
Het |
|
Other mutations in Setbp1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00582:Setbp1
|
APN |
18 |
78,798,894 (GRCm39) |
nonsense |
probably null |
0.00 |
IGL00668:Setbp1
|
APN |
18 |
78,900,985 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01628:Setbp1
|
APN |
18 |
78,899,992 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02084:Setbp1
|
APN |
18 |
78,900,625 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02405:Setbp1
|
APN |
18 |
78,900,514 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02427:Setbp1
|
APN |
18 |
78,900,688 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02612:Setbp1
|
APN |
18 |
78,798,925 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02725:Setbp1
|
APN |
18 |
78,900,589 (GRCm39) |
nonsense |
probably null |
|
IGL03005:Setbp1
|
APN |
18 |
78,902,340 (GRCm39) |
missense |
possibly damaging |
0.75 |
IGL03123:Setbp1
|
APN |
18 |
78,900,224 (GRCm39) |
missense |
probably damaging |
1.00 |
R1083:Setbp1
|
UTSW |
18 |
78,900,841 (GRCm39) |
missense |
probably damaging |
1.00 |
R1110:Setbp1
|
UTSW |
18 |
78,901,075 (GRCm39) |
missense |
probably damaging |
1.00 |
R1167:Setbp1
|
UTSW |
18 |
78,900,451 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1221:Setbp1
|
UTSW |
18 |
78,899,798 (GRCm39) |
missense |
probably damaging |
1.00 |
R1225:Setbp1
|
UTSW |
18 |
78,901,423 (GRCm39) |
missense |
probably damaging |
0.99 |
R1327:Setbp1
|
UTSW |
18 |
78,826,573 (GRCm39) |
missense |
probably benign |
0.00 |
R1481:Setbp1
|
UTSW |
18 |
78,826,516 (GRCm39) |
missense |
probably benign |
0.01 |
R1482:Setbp1
|
UTSW |
18 |
79,130,050 (GRCm39) |
missense |
probably damaging |
1.00 |
R1496:Setbp1
|
UTSW |
18 |
78,903,127 (GRCm39) |
missense |
probably damaging |
1.00 |
R1550:Setbp1
|
UTSW |
18 |
78,901,807 (GRCm39) |
missense |
probably damaging |
1.00 |
R1708:Setbp1
|
UTSW |
18 |
78,901,682 (GRCm39) |
missense |
probably damaging |
0.99 |
R1751:Setbp1
|
UTSW |
18 |
78,900,613 (GRCm39) |
missense |
probably damaging |
1.00 |
R1922:Setbp1
|
UTSW |
18 |
78,901,577 (GRCm39) |
missense |
possibly damaging |
0.75 |
R1986:Setbp1
|
UTSW |
18 |
78,901,759 (GRCm39) |
missense |
probably damaging |
0.99 |
R2090:Setbp1
|
UTSW |
18 |
78,899,935 (GRCm39) |
missense |
probably benign |
0.00 |
R2851:Setbp1
|
UTSW |
18 |
78,967,211 (GRCm39) |
missense |
probably benign |
0.11 |
R2853:Setbp1
|
UTSW |
18 |
78,967,211 (GRCm39) |
missense |
probably benign |
0.11 |
R2941:Setbp1
|
UTSW |
18 |
78,901,412 (GRCm39) |
missense |
probably damaging |
1.00 |
R3151:Setbp1
|
UTSW |
18 |
78,900,650 (GRCm39) |
missense |
probably damaging |
1.00 |
R3156:Setbp1
|
UTSW |
18 |
78,902,518 (GRCm39) |
missense |
probably benign |
0.00 |
R3807:Setbp1
|
UTSW |
18 |
78,826,537 (GRCm39) |
missense |
probably benign |
0.01 |
R4133:Setbp1
|
UTSW |
18 |
78,900,206 (GRCm39) |
missense |
probably benign |
0.05 |
R4287:Setbp1
|
UTSW |
18 |
78,902,276 (GRCm39) |
missense |
probably benign |
0.03 |
R4345:Setbp1
|
UTSW |
18 |
79,129,794 (GRCm39) |
missense |
probably damaging |
0.99 |
R4374:Setbp1
|
UTSW |
18 |
78,903,137 (GRCm39) |
missense |
probably damaging |
0.97 |
R4377:Setbp1
|
UTSW |
18 |
78,903,137 (GRCm39) |
missense |
probably damaging |
0.97 |
R4378:Setbp1
|
UTSW |
18 |
78,899,833 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4379:Setbp1
|
UTSW |
18 |
79,129,896 (GRCm39) |
missense |
probably damaging |
1.00 |
R4585:Setbp1
|
UTSW |
18 |
79,130,164 (GRCm39) |
missense |
probably benign |
0.00 |
R4595:Setbp1
|
UTSW |
18 |
78,900,731 (GRCm39) |
missense |
probably benign |
0.00 |
R4817:Setbp1
|
UTSW |
18 |
78,902,015 (GRCm39) |
missense |
probably damaging |
1.00 |
R4971:Setbp1
|
UTSW |
18 |
78,901,382 (GRCm39) |
missense |
probably benign |
0.07 |
R4976:Setbp1
|
UTSW |
18 |
79,129,927 (GRCm39) |
missense |
probably damaging |
1.00 |
R5017:Setbp1
|
UTSW |
18 |
78,899,809 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5066:Setbp1
|
UTSW |
18 |
78,900,514 (GRCm39) |
missense |
probably damaging |
1.00 |
R5133:Setbp1
|
UTSW |
18 |
78,900,697 (GRCm39) |
missense |
probably damaging |
1.00 |
R5151:Setbp1
|
UTSW |
18 |
78,901,214 (GRCm39) |
missense |
probably damaging |
1.00 |
R5237:Setbp1
|
UTSW |
18 |
78,900,190 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5480:Setbp1
|
UTSW |
18 |
78,901,278 (GRCm39) |
missense |
probably damaging |
0.99 |
R5507:Setbp1
|
UTSW |
18 |
79,129,927 (GRCm39) |
missense |
probably damaging |
1.00 |
R5529:Setbp1
|
UTSW |
18 |
79,129,867 (GRCm39) |
missense |
probably damaging |
0.99 |
R5622:Setbp1
|
UTSW |
18 |
78,900,700 (GRCm39) |
missense |
probably damaging |
1.00 |
R5722:Setbp1
|
UTSW |
18 |
78,899,860 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5806:Setbp1
|
UTSW |
18 |
78,899,697 (GRCm39) |
splice site |
probably null |
|
R5940:Setbp1
|
UTSW |
18 |
78,798,703 (GRCm39) |
missense |
probably damaging |
1.00 |
R6025:Setbp1
|
UTSW |
18 |
78,902,455 (GRCm39) |
missense |
probably damaging |
0.98 |
R6030:Setbp1
|
UTSW |
18 |
78,900,926 (GRCm39) |
missense |
probably benign |
0.02 |
R6030:Setbp1
|
UTSW |
18 |
78,900,926 (GRCm39) |
missense |
probably benign |
0.02 |
R6250:Setbp1
|
UTSW |
18 |
78,901,217 (GRCm39) |
missense |
probably benign |
0.00 |
R6256:Setbp1
|
UTSW |
18 |
78,900,472 (GRCm39) |
missense |
probably damaging |
1.00 |
R6332:Setbp1
|
UTSW |
18 |
78,826,584 (GRCm39) |
missense |
probably benign |
0.21 |
R6522:Setbp1
|
UTSW |
18 |
78,900,605 (GRCm39) |
missense |
probably damaging |
0.98 |
R6873:Setbp1
|
UTSW |
18 |
78,902,774 (GRCm39) |
missense |
probably benign |
0.00 |
R6886:Setbp1
|
UTSW |
18 |
78,900,715 (GRCm39) |
missense |
probably damaging |
1.00 |
R6986:Setbp1
|
UTSW |
18 |
78,901,054 (GRCm39) |
missense |
probably damaging |
1.00 |
R7042:Setbp1
|
UTSW |
18 |
79,130,070 (GRCm39) |
missense |
probably damaging |
1.00 |
R7131:Setbp1
|
UTSW |
18 |
79,130,175 (GRCm39) |
missense |
probably benign |
0.08 |
R7134:Setbp1
|
UTSW |
18 |
78,902,734 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7215:Setbp1
|
UTSW |
18 |
78,900,052 (GRCm39) |
missense |
probably damaging |
0.97 |
R7219:Setbp1
|
UTSW |
18 |
78,798,960 (GRCm39) |
missense |
probably damaging |
1.00 |
R7378:Setbp1
|
UTSW |
18 |
78,900,701 (GRCm39) |
missense |
probably damaging |
1.00 |
R7461:Setbp1
|
UTSW |
18 |
78,899,707 (GRCm39) |
missense |
probably benign |
0.06 |
R7589:Setbp1
|
UTSW |
18 |
78,899,707 (GRCm39) |
missense |
probably benign |
0.01 |
R7840:Setbp1
|
UTSW |
18 |
78,826,639 (GRCm39) |
missense |
probably benign |
0.03 |
R7849:Setbp1
|
UTSW |
18 |
78,900,068 (GRCm39) |
missense |
probably benign |
0.00 |
R8147:Setbp1
|
UTSW |
18 |
78,900,015 (GRCm39) |
missense |
probably damaging |
1.00 |
R8446:Setbp1
|
UTSW |
18 |
78,900,971 (GRCm39) |
missense |
probably damaging |
1.00 |
R8524:Setbp1
|
UTSW |
18 |
78,901,969 (GRCm39) |
missense |
probably damaging |
1.00 |
R8534:Setbp1
|
UTSW |
18 |
78,826,542 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8694:Setbp1
|
UTSW |
18 |
78,901,516 (GRCm39) |
missense |
probably damaging |
1.00 |
R8931:Setbp1
|
UTSW |
18 |
78,899,723 (GRCm39) |
missense |
probably benign |
0.00 |
R8983:Setbp1
|
UTSW |
18 |
78,902,459 (GRCm39) |
missense |
probably benign |
0.37 |
R9062:Setbp1
|
UTSW |
18 |
78,900,266 (GRCm39) |
missense |
probably benign |
0.01 |
R9113:Setbp1
|
UTSW |
18 |
78,900,948 (GRCm39) |
missense |
probably damaging |
0.99 |
R9364:Setbp1
|
UTSW |
18 |
78,826,599 (GRCm39) |
missense |
probably benign |
0.00 |
R9513:Setbp1
|
UTSW |
18 |
78,899,781 (GRCm39) |
missense |
probably damaging |
1.00 |
R9517:Setbp1
|
UTSW |
18 |
78,901,322 (GRCm39) |
missense |
probably damaging |
0.99 |
R9549:Setbp1
|
UTSW |
18 |
78,902,629 (GRCm39) |
missense |
probably benign |
0.07 |
R9554:Setbp1
|
UTSW |
18 |
78,826,599 (GRCm39) |
missense |
probably benign |
0.00 |
R9680:Setbp1
|
UTSW |
18 |
78,902,498 (GRCm39) |
missense |
probably benign |
|
R9711:Setbp1
|
UTSW |
18 |
78,900,142 (GRCm39) |
missense |
probably benign |
0.30 |
Z1088:Setbp1
|
UTSW |
18 |
78,902,809 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
PCR Primer
(F):5'- CACTGTCGGCCTCATGAAAG -3'
(R):5'- GCTGGAAGAACTCATCACCAAG -3'
Sequencing Primer
(F):5'- CTCATGAAAGGGGATGCTGCTC -3'
(R):5'- CGGGGCTACACTTTCTACCATGAG -3'
|
Posted On |
2021-01-18 |