Incidental Mutation 'R1183:Setx'
ID 101675
Institutional Source Beutler Lab
Gene Symbol Setx
Ensembl Gene ENSMUSG00000043535
Gene Name senataxin
Synonyms Als4, A930037J23Rik
MMRRC Submission 039255-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1183 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 29014193-29072483 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 29070104 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 2636 (D2636E)
Ref Sequence ENSEMBL: ENSMUSP00000051492 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061578]
AlphaFold A2AKX3
Predicted Effect probably benign
Transcript: ENSMUST00000061578
AA Change: D2636E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000051492
Gene: ENSMUSG00000043535
AA Change: D2636E

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
Predicted Effect probably benign
Transcript: ENSMUST00000145422
SMART Domains Protein: ENSMUSP00000119176
Gene: ENSMUSG00000043535

DomainStartEndE-ValueType
Pfam:AAA_11 1 68 5.8e-26 PFAM
Pfam:AAA_12 75 331 4.5e-54 PFAM
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.0%
  • 20x: 88.8%
Validation Efficiency
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 T G 8: 111,768,206 (GRCm39) Y192* probably null Het
Abcc6 T C 7: 45,634,677 (GRCm39) Y1100C probably damaging Het
Adamtsl2 T C 2: 26,974,092 (GRCm39) W132R probably damaging Het
Adgra2 T A 8: 27,604,416 (GRCm39) V497E probably damaging Het
Adtrp T G 13: 41,981,813 (GRCm39) probably benign Het
Alg9 T A 9: 50,700,833 (GRCm39) L201Q possibly damaging Het
Ap4e1 T A 2: 126,856,121 (GRCm39) I84K probably damaging Het
Atrnl1 T C 19: 57,638,725 (GRCm39) S288P probably damaging Het
Bltp1 T A 3: 36,949,452 (GRCm39) L366Q possibly damaging Het
Cacna1a A G 8: 85,306,846 (GRCm39) D1367G probably damaging Het
Card19 C T 13: 49,358,727 (GRCm39) R82Q probably damaging Het
Cep128 T C 12: 91,292,372 (GRCm39) I226V possibly damaging Het
Ces1f A C 8: 93,994,633 (GRCm39) D259E probably benign Het
Ckap5 T A 2: 91,416,611 (GRCm39) M1072K probably benign Het
Dcpp2 T A 17: 24,119,468 (GRCm39) V94D probably benign Het
Dnah2 T C 11: 69,337,474 (GRCm39) D3209G possibly damaging Het
Dsg1c A G 18: 20,416,255 (GRCm39) T719A probably damaging Het
Dsp G A 13: 38,375,716 (GRCm39) W1167* probably null Het
Eml5 T C 12: 98,758,305 (GRCm39) I1874V probably benign Het
Epg5 A G 18: 78,003,926 (GRCm39) T645A probably damaging Het
F2rl2 T C 13: 95,837,621 (GRCm39) L222S probably damaging Het
Fam114a1 T A 5: 65,191,731 (GRCm39) C495S probably damaging Het
Fbn1 A T 2: 125,163,537 (GRCm39) D2106E probably benign Het
Fgf14 T A 14: 124,913,936 (GRCm39) N65I probably benign Het
Fip1l1 T C 5: 74,755,763 (GRCm39) Y497H probably damaging Het
Fn1 A C 1: 71,625,404 (GRCm39) D2376E probably damaging Het
Foxd2 T C 4: 114,764,662 (GRCm39) T453A possibly damaging Het
Galnt1 G T 18: 24,404,647 (GRCm39) W328L probably damaging Het
Gapt A G 13: 110,490,372 (GRCm39) V97A possibly damaging Het
Gatad1 A G 5: 3,693,707 (GRCm39) V154A possibly damaging Het
Gdf15 A G 8: 71,084,202 (GRCm39) F21L probably benign Het
Igdcc4 T C 9: 65,029,182 (GRCm39) F273S possibly damaging Het
Invs A T 4: 48,421,725 (GRCm39) R786W possibly damaging Het
Itfg1 T G 8: 86,507,152 (GRCm39) E236A probably benign Het
Jak3 A T 8: 72,137,194 (GRCm39) I752F probably damaging Het
Kcnip3 C A 2: 127,306,985 (GRCm39) G144W probably damaging Het
Kctd19 T C 8: 106,109,598 (GRCm39) H925R probably benign Het
Kdr C T 5: 76,107,511 (GRCm39) A1011T probably damaging Het
Kif13b C A 14: 65,019,826 (GRCm39) H1398Q probably benign Het
Lrp4 A T 2: 91,307,864 (GRCm39) probably null Het
Lrtm2 T C 6: 119,297,846 (GRCm39) D65G probably benign Het
Lyz1 A G 10: 117,128,715 (GRCm39) L10P probably damaging Het
Metap2 A T 10: 93,706,046 (GRCm39) N245K probably damaging Het
Mms19 T C 19: 41,943,270 (GRCm39) D297G possibly damaging Het
Mocs3 A G 2: 168,073,573 (GRCm39) D340G possibly damaging Het
Mtfr1l A G 4: 134,256,436 (GRCm39) L243P probably damaging Het
Mtss1 A G 15: 58,842,897 (GRCm39) I105T probably damaging Het
Myo18a T C 11: 77,748,571 (GRCm39) S1967P probably damaging Het
Ncor2 T C 5: 125,100,585 (GRCm39) N2248S possibly damaging Het
Nfatc2 T C 2: 168,432,008 (GRCm39) D35G possibly damaging Het
Nup210l T A 3: 90,067,252 (GRCm39) M764K probably benign Het
Or10a3n A G 7: 108,492,948 (GRCm39) L222P probably damaging Het
Otof T C 5: 30,529,256 (GRCm39) S1753G probably damaging Het
Otog G A 7: 45,939,179 (GRCm39) V2070I probably benign Het
Piezo2 A G 18: 63,219,824 (GRCm39) V961A probably damaging Het
Pofut1 C T 2: 153,103,158 (GRCm39) S169L probably benign Het
Ppp1r10 T A 17: 36,240,335 (GRCm39) S542T possibly damaging Het
Prpf8 T C 11: 75,381,156 (GRCm39) Y219H possibly damaging Het
Ptges3l T C 11: 101,312,731 (GRCm39) D113G possibly damaging Het
Pycr3 G A 15: 75,790,647 (GRCm39) L71F probably benign Het
Ramp3 A G 11: 6,624,867 (GRCm39) K54E possibly damaging Het
Rbpms C A 8: 34,294,100 (GRCm39) Q214H possibly damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Robo4 C A 9: 37,319,348 (GRCm39) D565E probably damaging Het
S100a1 C T 3: 90,418,641 (GRCm39) V58I probably benign Het
Sun2 A T 15: 79,612,669 (GRCm39) V417E probably damaging Het
Tbccd1 T C 16: 22,660,519 (GRCm39) N99S probably benign Het
Tex15 A G 8: 34,064,893 (GRCm39) D1441G probably benign Het
Tmc2 T A 2: 130,089,896 (GRCm39) M627K probably damaging Het
Trim32 A G 4: 65,532,628 (GRCm39) Y395C probably benign Het
Trpm2 A G 10: 77,759,398 (GRCm39) Y1129H probably damaging Het
Trpm8 A T 1: 88,275,813 (GRCm39) R470S probably damaging Het
Tsg101 G T 7: 46,539,372 (GRCm39) D389E probably benign Het
Ubn1 T C 16: 4,882,406 (GRCm39) L46P probably damaging Het
Ubr5 T C 15: 37,997,419 (GRCm39) I1745V possibly damaging Het
Usp20 T C 2: 30,901,797 (GRCm39) Y521H probably benign Het
Vmn1r159 A T 7: 22,543,019 (GRCm39) H4Q probably null Het
Vmn2r27 T A 6: 124,177,491 (GRCm39) E504D probably benign Het
Wdr72 A T 9: 74,086,867 (GRCm39) I612F probably benign Het
Zbtb8a T C 4: 129,251,520 (GRCm39) H317R possibly damaging Het
Zfp507 T C 7: 35,494,315 (GRCm39) S243G probably damaging Het
Zfp764 A G 7: 127,005,419 (GRCm39) W73R probably damaging Het
Zmym4 A T 4: 126,819,632 (GRCm39) D90E probably damaging 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
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
R8871:Setx UTSW 2 29,038,114 (GRCm39) missense probably benign 0.11
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'- ACTTCGAGATCCACGACTACTCAGG -3'
(R):5'- GGCTGAGGCAGGAAATGTGGTTTAC -3'

Sequencing Primer
(F):5'- GATCCACGACTACTCAGGAGATTG -3'
(R):5'- GTGGTTTACACTGTAAAAGGATCTGC -3'
Posted On 2014-01-15