Incidental Mutation 'R7802:Setx'
ID 600558
Institutional Source Beutler Lab
Gene Symbol Setx
Ensembl Gene ENSMUSG00000043535
Gene Name senataxin
Synonyms Als4, A930037J23Rik
MMRRC Submission 045857-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7802 (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 29037033 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1173 (T1173A)
Ref Sequence ENSEMBL: ENSMUSP00000051492 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061578]
AlphaFold A2AKX3
Predicted Effect probably benign
Transcript: ENSMUST00000061578
AA Change: T1173A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000051492
Gene: ENSMUSG00000043535
AA Change: T1173A

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: 99.6%
  • 20x: 98.7%
Validation Efficiency 97% (35/36)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl1 T C 2: 31,650,438 (GRCm39) V12A probably benign Het
Bahcc1 T C 11: 120,165,518 (GRCm39) F983S probably benign Het
Cecr2 T C 6: 120,720,808 (GRCm39) I312T probably benign Het
Col6a2 A T 10: 76,439,632 (GRCm39) W711R probably damaging Het
Epb41l4a A G 18: 33,961,227 (GRCm39) F436L probably benign Het
Epha1 C T 6: 42,338,875 (GRCm39) R641Q possibly damaging Het
Ercc6 C A 14: 32,239,260 (GRCm39) A116E probably damaging Het
Ermard A G 17: 15,281,423 (GRCm39) E611G probably benign Het
Galnt16 T G 12: 80,628,021 (GRCm39) I239S probably damaging Het
Gna15 T C 10: 81,350,175 (GRCm39) R76G probably benign Het
Herc2 A G 7: 55,813,838 (GRCm39) Y2657C probably damaging Het
Mapkapk2 T C 1: 130,984,639 (GRCm39) I238V possibly damaging Het
Med13l T C 5: 118,866,655 (GRCm39) S570P probably benign Het
Mrap C T 16: 90,546,247 (GRCm39) T112M probably benign Het
Nadsyn1 T C 7: 143,359,763 (GRCm39) Q403R probably benign Het
Nostrin T C 2: 69,019,356 (GRCm39) V467A probably benign Het
Palb2 A T 7: 121,710,119 (GRCm39) probably null Het
Parp16 A G 9: 65,137,179 (GRCm39) N135S probably benign Het
Pcnt A T 10: 76,211,137 (GRCm39) probably null Het
Pde8b T C 13: 95,237,446 (GRCm39) D116G probably damaging Het
Pierce1 TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC 2: 28,356,122 (GRCm39) probably benign Het
Psmc5 T C 11: 106,152,538 (GRCm39) probably null Het
Rsf1 G T 7: 97,310,979 (GRCm39) V570F Het
Rundc3a A G 11: 102,290,835 (GRCm39) E306G probably benign Het
Serpinb6b C T 13: 33,155,579 (GRCm39) Het
Slamf8 A G 1: 172,415,677 (GRCm39) S54P probably damaging Het
Slc5a2 A C 7: 127,870,970 (GRCm39) D570A possibly damaging Het
Slco5a1 T A 1: 13,060,700 (GRCm39) Q7L possibly damaging Het
Stt3b G T 9: 115,105,949 (GRCm39) S175R probably damaging Het
Taar6 T A 10: 23,861,151 (GRCm39) I132F probably benign Het
Tenm3 A G 8: 48,689,500 (GRCm39) V2029A probably damaging Het
Tgm4 A G 9: 122,880,401 (GRCm39) probably benign Het
Tmt1a A T 15: 100,203,182 (GRCm39) N152I possibly damaging Het
Togaram1 T A 12: 65,013,758 (GRCm39) C336* probably null Het
Ttn G A 2: 76,768,015 (GRCm39) T3028M unknown Het
Vmn2r25 A T 6: 123,828,791 (GRCm39) I161N possibly damaging Het
Vwf T C 6: 125,643,640 (GRCm39) C2394R 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
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'- ACAATAACTTGGGTTGTGGTGAC -3'
(R):5'- CGAAGCTTCTTTGGTGGCAC -3'

Sequencing Primer
(F):5'- GTGACTCTGTGTCTGAAGAGG -3'
(R):5'- AAGCTTCTTTGGTGGCACAATAGC -3'
Posted On 2019-11-26