Incidental Mutation 'R8871:Setx'
ID 676255
Institutional Source Beutler Lab
Gene Symbol Setx
Ensembl Gene ENSMUSG00000043535
Gene Name senataxin
Synonyms Als4, A930037J23Rik
MMRRC Submission 068685-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8871 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 29014193-29072483 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 29038114 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1533 (D1533G)
Ref Sequence ENSEMBL: ENSMUSP00000051492 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061578]
AlphaFold A2AKX3
Predicted Effect probably benign
Transcript: ENSMUST00000061578
AA Change: D1533G

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000051492
Gene: ENSMUSG00000043535
AA Change: D1533G

DomainStartEndE-ValueType
low complexity region 864 876 N/A INTRINSIC
low complexity region 1002 1020 N/A INTRINSIC
low complexity region 1058 1079 N/A INTRINSIC
low complexity region 1575 1594 N/A INTRINSIC
Pfam:AAA_11 1909 2194 1.9e-68 PFAM
Pfam:AAA_19 1924 2015 2.9e-11 PFAM
Pfam:AAA_12 2201 2402 1.1e-54 PFAM
low complexity region 2499 2516 N/A INTRINSIC
low complexity region 2576 2587 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.3%
Validation Efficiency 99% (76/77)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein named for its homology to the Sen1p protein of fungi which has RNA helicase activity encoded by a domain at the C-terminal end of the protein. The protein encoded by this gene contains a DNA/RNA helicase domain at its C-terminal end which suggests that it may be involved in both DNA and RNA processing. Mutations in this gene have been associated with ataxia-ocular apraxia-2 (AOA2) and an autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS4). [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility due to arrested male meiosis and reduced female fertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T G 11: 9,248,071 (GRCm39) M2606R probably benign Het
Abcg5 C T 17: 84,990,295 (GRCm39) E3K probably benign Het
Adam20 A C 8: 41,248,601 (GRCm39) H237P probably damaging Het
Alg3 T C 16: 20,424,684 (GRCm39) Y361C probably damaging Het
Ano8 A T 8: 71,931,944 (GRCm39) Y752N probably benign Het
AW551984 A T 9: 39,500,998 (GRCm39) L759* probably null Het
Bdp1 A C 13: 100,186,175 (GRCm39) V1759G probably damaging Het
Bicdl2 C A 17: 23,885,777 (GRCm39) Q273K probably damaging Het
Cc2d2a A T 5: 43,857,285 (GRCm39) T491S possibly damaging Het
Cdkl2 A G 5: 92,164,989 (GRCm39) S545P possibly damaging Het
Ceacam5 T A 7: 17,494,827 (GRCm39) I945K probably benign Het
Celf1 A G 2: 90,840,840 (GRCm39) Y369C probably damaging Het
Cmtm1 TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG 8: 105,036,334 (GRCm39) probably null Het
Col14a1 T G 15: 55,245,958 (GRCm39) D487E unknown Het
Crybg3 T C 16: 59,378,519 (GRCm39) N912D probably benign Het
Cstl1 A G 2: 148,596,554 (GRCm39) T86A probably damaging Het
Dixdc1 C T 9: 50,595,096 (GRCm39) V482M possibly damaging Het
Dmbt1 T C 7: 130,718,597 (GRCm39) Y1773H unknown Het
Dock4 T C 12: 40,795,730 (GRCm39) I849T probably benign Het
Fbln2 A T 6: 91,233,215 (GRCm39) probably null Het
Fbxo16 A G 14: 65,531,348 (GRCm39) E84G probably damaging Het
Fras1 T A 5: 96,855,257 (GRCm39) V1922D probably benign Het
G6pc3 A G 11: 102,082,896 (GRCm39) H85R probably damaging Het
Galc A T 12: 98,212,543 (GRCm39) N197K probably damaging Het
Galnt12 T G 4: 47,108,582 (GRCm39) probably null Het
Gm10220 T A 5: 26,322,863 (GRCm39) Q183L probably benign Het
Gxylt2 A G 6: 100,760,109 (GRCm39) T215A probably damaging Het
Hnrnpf T G 6: 117,900,811 (GRCm39) S32A probably benign Het
Hspa1l T C 17: 35,197,799 (GRCm39) Y613H probably benign Het
Il1r2 T A 1: 40,144,424 (GRCm39) V37D probably benign Het
Itga11 C A 9: 62,668,823 (GRCm39) Y693* probably null Het
Itgax T A 7: 127,735,223 (GRCm39) F459L probably damaging Het
Jph1 A G 1: 17,067,719 (GRCm39) V656A possibly damaging Het
Kcnn4 A T 7: 24,083,500 (GRCm39) I394F possibly damaging Het
Kdelr3 T A 15: 79,410,044 (GRCm39) Y176* probably null Het
Kif13a T C 13: 46,984,279 (GRCm39) D162G probably damaging Het
Klhdc8b G A 9: 108,326,871 (GRCm39) P164S probably damaging Het
Lmbrd1 A T 1: 24,783,435 (GRCm39) Q357L probably damaging Het
Lrrc37a T C 11: 103,347,375 (GRCm39) M3107V unknown Het
Mllt3 ACTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCT ACTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCT 4: 87,759,552 (GRCm39) probably benign Het
Muc16 C A 9: 18,567,344 (GRCm39) G1725V unknown Het
Myo5c T C 9: 75,185,585 (GRCm39) S983P probably benign Het
Naip1 G A 13: 100,580,146 (GRCm39) H217Y probably damaging Het
Nlrc3 T C 16: 3,781,968 (GRCm39) probably benign Het
Nrl A T 14: 55,758,184 (GRCm39) L181Q probably damaging Het
Olig1 T C 16: 91,067,545 (GRCm39) *261R probably null Het
Or12k5 T C 2: 36,895,060 (GRCm39) T189A probably benign Het
Or2l13b T C 16: 19,349,536 (GRCm39) I45V Het
Or8j3c T C 2: 86,253,697 (GRCm39) M108V probably benign Het
Oscp1 T A 4: 125,952,535 (GRCm39) L21Q probably damaging Het
Oxct1 G A 15: 4,064,763 (GRCm39) V34I probably benign Het
Pdzph1 A G 17: 59,195,033 (GRCm39) L1074P probably damaging Het
Pkd1l1 T A 11: 8,900,503 (GRCm39) S463C Het
Pnpla3 G A 15: 84,063,509 (GRCm39) E296K probably benign Het
Prss35 T G 9: 86,637,244 (GRCm39) L5V possibly damaging Het
Rbck1 T C 2: 152,164,096 (GRCm39) E336G possibly damaging Het
Rgl2 G A 17: 34,153,974 (GRCm39) R460Q probably damaging Het
Rmi1 T A 13: 58,557,156 (GRCm39) N468K probably benign Het
Rptor T A 11: 119,494,751 (GRCm39) I39N probably benign Het
S1pr1 A G 3: 115,505,628 (GRCm39) F322S probably damaging Het
Scgb1b10 T A 7: 31,800,544 (GRCm39) Y44* probably null Het
Sf3b1 A G 1: 55,029,508 (GRCm39) Y1165H probably damaging Het
Sgcz A T 8: 38,420,103 (GRCm39) Y50N probably damaging Het
Sh3gl2 C A 4: 85,305,817 (GRCm39) P227Q Het
She T C 3: 89,759,795 (GRCm39) probably null Het
Slc9a4 T C 1: 40,642,015 (GRCm39) I328T probably damaging Het
Sort1 G A 3: 108,262,887 (GRCm39) probably null Het
Srebf1 A G 11: 60,091,595 (GRCm39) S977P probably benign Het
Srsf9 T C 5: 115,468,712 (GRCm39) V116A probably damaging Het
Tex15 G A 8: 34,066,992 (GRCm39) V2141I possibly damaging Het
Tmprss13 A T 9: 45,249,704 (GRCm39) H347L probably damaging Het
Trpv4 A G 5: 114,768,511 (GRCm39) F519S probably benign Het
Trrap A G 5: 144,758,649 (GRCm39) T2159A probably benign Het
Vmn1r36 A T 6: 66,693,442 (GRCm39) Y144* probably null Het
Vmn2r10 A G 5: 109,146,899 (GRCm39) I463T possibly damaging Het
Vps13a T A 19: 16,641,186 (GRCm39) N2312I probably damaging Het
Wdr81 A T 11: 75,343,919 (GRCm39) Y449* probably null Het
Zfhx3 A G 8: 109,676,867 (GRCm39) D2639G possibly damaging Het
Zfp120 A G 2: 149,959,995 (GRCm39) V131A probably benign Het
Zfp574 G T 7: 24,780,562 (GRCm39) C528F probably damaging Het
Zfp947 A T 17: 22,364,695 (GRCm39) N326K probably benign Het
Other mutations in Setx
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00688:Setx APN 2 29,038,457 (GRCm39) missense possibly damaging 0.50
IGL00806:Setx APN 2 29,017,038 (GRCm39) missense probably damaging 1.00
IGL01346:Setx APN 2 29,034,821 (GRCm39) missense probably damaging 1.00
IGL01623:Setx APN 2 29,053,021 (GRCm39) missense possibly damaging 0.70
IGL02351:Setx APN 2 29,036,976 (GRCm39) missense probably benign 0.45
IGL02358:Setx APN 2 29,036,976 (GRCm39) missense probably benign 0.45
IGL02378:Setx APN 2 29,063,738 (GRCm39) splice site probably benign
IGL02388:Setx APN 2 29,063,665 (GRCm39) missense probably damaging 1.00
IGL02408:Setx APN 2 29,023,942 (GRCm39) missense probably damaging 1.00
IGL02425:Setx APN 2 29,038,420 (GRCm39) missense probably benign 0.00
IGL03023:Setx APN 2 29,035,914 (GRCm39) missense probably benign 0.02
IGL03351:Setx APN 2 29,051,811 (GRCm39) missense probably benign 0.25
Addison UTSW 2 29,048,917 (GRCm39) missense probably damaging 1.00
dallas UTSW 2 29,044,073 (GRCm39) frame shift probably null
Denton UTSW 2 29,035,072 (GRCm39) missense possibly damaging 0.81
doggie UTSW 2 29,054,562 (GRCm39) missense probably damaging 1.00
Irving UTSW 2 29,029,233 (GRCm39) missense probably damaging 0.99
G1Funyon:Setx UTSW 2 29,035,702 (GRCm39) missense possibly damaging 0.69
IGL03014:Setx UTSW 2 29,029,423 (GRCm39) missense probably damaging 1.00
PIT4403001:Setx UTSW 2 29,023,967 (GRCm39) missense probably damaging 1.00
R0027:Setx UTSW 2 29,029,233 (GRCm39) missense probably damaging 0.99
R0031:Setx UTSW 2 29,066,941 (GRCm39) missense probably benign 0.02
R0070:Setx UTSW 2 29,051,537 (GRCm39) missense probably benign 0.00
R0070:Setx UTSW 2 29,051,537 (GRCm39) missense probably benign 0.00
R0092:Setx UTSW 2 29,036,305 (GRCm39) missense probably benign 0.00
R0193:Setx UTSW 2 29,069,685 (GRCm39) missense probably benign 0.21
R0281:Setx UTSW 2 29,069,655 (GRCm39) missense probably benign 0.00
R0401:Setx UTSW 2 29,056,301 (GRCm39) nonsense probably null
R0413:Setx UTSW 2 29,029,290 (GRCm39) missense probably damaging 1.00
R0517:Setx UTSW 2 29,047,145 (GRCm39) missense probably benign 0.00
R0536:Setx UTSW 2 29,048,260 (GRCm39) missense possibly damaging 0.46
R0617:Setx UTSW 2 29,036,819 (GRCm39) missense possibly damaging 0.86
R1183:Setx UTSW 2 29,070,104 (GRCm39) missense probably benign
R1331:Setx UTSW 2 29,069,698 (GRCm39) missense probably benign
R1465:Setx UTSW 2 29,030,401 (GRCm39) critical splice donor site probably null
R1465:Setx UTSW 2 29,030,401 (GRCm39) critical splice donor site probably null
R1467:Setx UTSW 2 29,048,917 (GRCm39) missense probably damaging 1.00
R1467:Setx UTSW 2 29,048,917 (GRCm39) missense probably damaging 1.00
R1482:Setx UTSW 2 29,053,004 (GRCm39) missense probably damaging 0.99
R1599:Setx UTSW 2 29,030,385 (GRCm39) missense probably benign 0.04
R1663:Setx UTSW 2 29,016,917 (GRCm39) missense probably damaging 1.00
R1909:Setx UTSW 2 29,053,021 (GRCm39) missense possibly damaging 0.70
R2117:Setx UTSW 2 29,020,313 (GRCm39) missense probably benign 0.01
R2207:Setx UTSW 2 29,044,073 (GRCm39) frame shift probably null
R2221:Setx UTSW 2 29,044,073 (GRCm39) frame shift probably null
R2223:Setx UTSW 2 29,044,073 (GRCm39) frame shift probably null
R2223:Setx UTSW 2 29,038,549 (GRCm39) missense possibly damaging 0.89
R2273:Setx UTSW 2 29,044,073 (GRCm39) frame shift probably null
R2274:Setx UTSW 2 29,044,073 (GRCm39) frame shift probably null
R2275:Setx UTSW 2 29,044,073 (GRCm39) frame shift probably null
R2309:Setx UTSW 2 29,048,916 (GRCm39) missense probably damaging 1.00
R2328:Setx UTSW 2 29,044,073 (GRCm39) frame shift probably null
R2328:Setx UTSW 2 29,044,072 (GRCm39) frame shift probably null
R2329:Setx UTSW 2 29,044,073 (GRCm39) frame shift probably null
R2331:Setx UTSW 2 29,044,073 (GRCm39) frame shift probably null
R2332:Setx UTSW 2 29,044,073 (GRCm39) frame shift probably null
R2429:Setx UTSW 2 29,069,910 (GRCm39) missense probably benign 0.00
R2438:Setx UTSW 2 29,044,073 (GRCm39) frame shift probably null
R2439:Setx UTSW 2 29,044,073 (GRCm39) frame shift probably null
R2496:Setx UTSW 2 29,034,813 (GRCm39) missense probably benign 0.11
R2858:Setx UTSW 2 29,044,073 (GRCm39) frame shift probably null
R2859:Setx UTSW 2 29,044,073 (GRCm39) frame shift probably null
R2884:Setx UTSW 2 29,038,637 (GRCm39) missense probably damaging 0.98
R2885:Setx UTSW 2 29,038,637 (GRCm39) missense probably damaging 0.98
R2886:Setx UTSW 2 29,038,637 (GRCm39) missense probably damaging 0.98
R2915:Setx UTSW 2 29,062,336 (GRCm39) missense probably damaging 0.99
R2921:Setx UTSW 2 29,044,073 (GRCm39) frame shift probably null
R2921:Setx UTSW 2 29,044,072 (GRCm39) small deletion probably benign
R2923:Setx UTSW 2 29,044,073 (GRCm39) frame shift probably null
R3426:Setx UTSW 2 29,044,073 (GRCm39) frame shift probably null
R3609:Setx UTSW 2 29,044,073 (GRCm39) frame shift probably null
R3610:Setx UTSW 2 29,044,073 (GRCm39) frame shift probably null
R3731:Setx UTSW 2 29,044,073 (GRCm39) frame shift probably null
R3813:Setx UTSW 2 29,044,073 (GRCm39) frame shift probably null
R3835:Setx UTSW 2 29,035,072 (GRCm39) missense possibly damaging 0.81
R3871:Setx UTSW 2 29,035,753 (GRCm39) missense probably damaging 0.98
R4013:Setx UTSW 2 29,044,073 (GRCm39) frame shift probably null
R4014:Setx UTSW 2 29,044,073 (GRCm39) frame shift probably null
R4015:Setx UTSW 2 29,044,073 (GRCm39) frame shift probably null
R4017:Setx UTSW 2 29,044,073 (GRCm39) frame shift probably null
R4246:Setx UTSW 2 29,044,073 (GRCm39) frame shift probably null
R4248:Setx UTSW 2 29,044,073 (GRCm39) frame shift probably null
R4297:Setx UTSW 2 29,044,073 (GRCm39) frame shift probably null
R4298:Setx UTSW 2 29,044,073 (GRCm39) frame shift probably null
R4539:Setx UTSW 2 29,069,760 (GRCm39) missense probably benign 0.14
R4590:Setx UTSW 2 29,034,821 (GRCm39) missense probably damaging 1.00
R4632:Setx UTSW 2 29,038,627 (GRCm39) missense probably benign 0.23
R4782:Setx UTSW 2 29,034,058 (GRCm39) missense probably damaging 0.99
R4801:Setx UTSW 2 29,036,385 (GRCm39) missense probably benign 0.14
R4802:Setx UTSW 2 29,036,385 (GRCm39) missense probably benign 0.14
R4975:Setx UTSW 2 29,054,562 (GRCm39) missense probably damaging 1.00
R5040:Setx UTSW 2 29,029,350 (GRCm39) missense probably damaging 1.00
R5133:Setx UTSW 2 29,070,093 (GRCm39) missense probably benign 0.02
R5208:Setx UTSW 2 29,056,379 (GRCm39) missense possibly damaging 0.63
R5237:Setx UTSW 2 29,036,995 (GRCm39) missense probably benign 0.00
R5248:Setx UTSW 2 29,038,430 (GRCm39) missense probably benign 0.26
R5288:Setx UTSW 2 29,024,045 (GRCm39) critical splice donor site probably null
R5385:Setx UTSW 2 29,024,045 (GRCm39) critical splice donor site probably null
R5387:Setx UTSW 2 29,037,606 (GRCm39) missense probably benign 0.00
R5407:Setx UTSW 2 29,035,486 (GRCm39) missense probably benign 0.00
R5685:Setx UTSW 2 29,061,292 (GRCm39) missense probably damaging 1.00
R6110:Setx UTSW 2 29,030,302 (GRCm39) missense probably damaging 1.00
R6136:Setx UTSW 2 29,038,039 (GRCm39) missense probably benign 0.01
R6310:Setx UTSW 2 29,066,947 (GRCm39) missense possibly damaging 0.57
R6328:Setx UTSW 2 29,064,474 (GRCm39) intron probably benign
R6358:Setx UTSW 2 29,061,360 (GRCm39) missense possibly damaging 0.79
R6384:Setx UTSW 2 29,063,570 (GRCm39) missense probably damaging 1.00
R6400:Setx UTSW 2 29,020,286 (GRCm39) missense probably damaging 0.97
R6572:Setx UTSW 2 29,063,706 (GRCm39) missense possibly damaging 0.63
R6662:Setx UTSW 2 29,048,126 (GRCm39) missense probably damaging 0.97
R6898:Setx UTSW 2 29,038,120 (GRCm39) missense probably benign 0.00
R7188:Setx UTSW 2 29,038,184 (GRCm39) missense probably benign 0.02
R7332:Setx UTSW 2 29,036,638 (GRCm39) missense probably benign 0.00
R7357:Setx UTSW 2 29,020,313 (GRCm39) missense probably benign 0.01
R7556:Setx UTSW 2 29,036,505 (GRCm39) missense possibly damaging 0.88
R7646:Setx UTSW 2 29,067,561 (GRCm39) missense possibly damaging 0.94
R7802:Setx UTSW 2 29,037,033 (GRCm39) missense probably benign 0.02
R7810:Setx UTSW 2 29,038,663 (GRCm39) missense probably benign 0.43
R7831:Setx UTSW 2 29,069,866 (GRCm39) missense possibly damaging 0.75
R7831:Setx UTSW 2 29,047,120 (GRCm39) missense probably damaging 1.00
R7843:Setx UTSW 2 29,063,581 (GRCm39) missense probably damaging 1.00
R7850:Setx UTSW 2 29,037,430 (GRCm39) missense probably damaging 1.00
R7858:Setx UTSW 2 29,051,562 (GRCm39) missense probably damaging 1.00
R8121:Setx UTSW 2 29,035,046 (GRCm39) missense possibly damaging 0.93
R8284:Setx UTSW 2 29,035,348 (GRCm39) missense possibly damaging 0.46
R8301:Setx UTSW 2 29,035,702 (GRCm39) missense possibly damaging 0.69
R8752:Setx UTSW 2 29,048,992 (GRCm39) missense probably damaging 0.97
R8785:Setx UTSW 2 29,035,275 (GRCm39) missense probably damaging 1.00
R8927:Setx UTSW 2 29,016,971 (GRCm39) missense possibly damaging 0.59
R8928:Setx UTSW 2 29,016,971 (GRCm39) missense possibly damaging 0.59
R9182:Setx UTSW 2 29,061,299 (GRCm39) missense probably damaging 1.00
R9334:Setx UTSW 2 29,044,032 (GRCm39) nonsense probably null
R9335:Setx UTSW 2 29,035,963 (GRCm39) missense probably benign 0.00
R9491:Setx UTSW 2 29,037,835 (GRCm39) missense probably benign 0.03
R9551:Setx UTSW 2 29,020,244 (GRCm39) missense possibly damaging 0.80
R9627:Setx UTSW 2 29,034,661 (GRCm39) missense probably damaging 1.00
R9688:Setx UTSW 2 29,036,328 (GRCm39) missense probably damaging 1.00
R9689:Setx UTSW 2 29,051,555 (GRCm39) missense probably damaging 1.00
R9747:Setx UTSW 2 29,064,377 (GRCm39) nonsense probably null
R9780:Setx UTSW 2 29,016,999 (GRCm39) missense possibly damaging 0.88
X0066:Setx UTSW 2 29,037,891 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GCATCTGTGAAAGCTGCAGAG -3'
(R):5'- AGACTTGGAAAGATTGGCAGTTC -3'

Sequencing Primer
(F):5'- GCCAGCGTCTAGTAGTGATAC -3'
(R):5'- AGTTCGTGAAGCGCTGC -3'
Posted On 2021-07-15