Incidental Mutation 'R5208:Setx'
ID 402127
Institutional Source Beutler Lab
Gene Symbol Setx
Ensembl Gene ENSMUSG00000043535
Gene Name senataxin
Synonyms Als4, A930037J23Rik
MMRRC Submission 042783-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5208 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 29014193-29072483 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 29056379 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 2192 (I2192F)
Ref Sequence ENSEMBL: ENSMUSP00000051492 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061578]
AlphaFold A2AKX3
Predicted Effect possibly damaging
Transcript: ENSMUST00000061578
AA Change: I2192F

PolyPhen 2 Score 0.631 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000051492
Gene: ENSMUSG00000043535
AA Change: I2192F

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 noncoding transcript
Transcript: ENSMUST00000135992
Predicted Effect unknown
Transcript: ENSMUST00000145422
AA Change: I65F
SMART Domains Protein: ENSMUSP00000119176
Gene: ENSMUSG00000043535
AA Change: I65F

DomainStartEndE-ValueType
Pfam:AAA_11 1 68 5.8e-26 PFAM
Pfam:AAA_12 75 331 4.5e-54 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 A T 4: 144,344,398 (GRCm39) N58I probably benign Het
Adgra3 T C 5: 50,168,857 (GRCm39) D163G probably damaging Het
Alcam C A 16: 52,115,411 (GRCm39) E236* probably null Het
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Aplf G T 6: 87,619,008 (GRCm39) probably null Het
Arl4a A T 12: 40,086,744 (GRCm39) M1K probably null Het
Asic4 A G 1: 75,427,870 (GRCm39) D132G probably damaging Het
Bbs12 T C 3: 37,374,422 (GRCm39) I290T probably benign Het
BC024139 A G 15: 76,008,865 (GRCm39) S290P probably benign Het
Bmp6 G A 13: 38,653,673 (GRCm39) A247T probably benign Het
Cadps A G 14: 12,457,711 (GRCm38) S1057P possibly damaging Het
Caprin1 A C 2: 103,599,778 (GRCm39) probably null Het
Cdc42bpg G A 19: 6,371,750 (GRCm39) R1343K probably benign Het
Cdk18 A T 1: 132,045,218 (GRCm39) probably null Het
Cenpf A T 1: 189,403,243 (GRCm39) probably null Het
Cfhr1 A T 1: 139,484,068 (GRCm39) probably null Het
Chn2 A T 6: 54,272,786 (GRCm39) I201F probably damaging Het
Chrdl2 A G 7: 99,673,129 (GRCm39) D175G probably damaging Het
Disp2 G T 2: 118,622,286 (GRCm39) R1006L probably damaging Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Dnah3 C G 7: 119,631,861 (GRCm39) D1365H probably damaging Het
Efcab8 T A 2: 153,644,343 (GRCm39) Y372* probably null Het
Eftud2 G A 11: 102,732,011 (GRCm39) P768S probably damaging Het
Ehmt1 A C 2: 24,691,545 (GRCm39) S1170A probably benign Het
Gdpd4 A C 7: 97,664,118 (GRCm39) K572Q probably benign Het
Gm7356 T C 17: 14,221,456 (GRCm39) E191G probably damaging Het
Gm8674 A T 13: 50,055,957 (GRCm39) noncoding transcript Het
Gulp1 T G 1: 44,820,199 (GRCm39) H235Q probably benign Het
Hormad1 T C 3: 95,485,418 (GRCm39) V202A possibly damaging Het
Inpp5b G A 4: 124,645,110 (GRCm39) D179N possibly damaging Het
Kcnk4 T A 19: 6,905,069 (GRCm39) Y194F possibly damaging Het
Lars1 A C 18: 42,350,622 (GRCm39) S896A probably benign Het
Lonp1 A G 17: 56,924,793 (GRCm39) V538A probably damaging Het
Map3k14 A T 11: 103,129,972 (GRCm39) L315Q probably damaging Het
Met T A 6: 17,526,422 (GRCm39) Y500* probably null Het
Mga T G 2: 119,778,462 (GRCm39) I2093M possibly damaging Het
Mpl T G 4: 118,313,078 (GRCm39) I152L probably benign Het
Mthfsd G A 8: 121,835,058 (GRCm39) probably benign Het
Mup4 A G 4: 59,958,119 (GRCm39) F150L probably damaging Het
Mybph T A 1: 134,121,273 (GRCm39) V11D probably benign Het
Or4f54 A T 2: 111,122,946 (GRCm39) E111V probably damaging Het
Or52n2c A G 7: 104,574,933 (GRCm39) F13L probably benign Het
Or5ak20 T A 2: 85,184,142 (GRCm39) I43F probably benign Het
Pde4a T C 9: 21,114,854 (GRCm39) probably null Het
Pex2 C T 3: 5,626,428 (GRCm39) R127H probably benign Het
Pgap3 A G 11: 98,288,874 (GRCm39) W94R probably damaging Het
Prl4a1 T C 13: 28,202,467 (GRCm39) V14A probably benign Het
Psg25 A T 7: 18,260,460 (GRCm39) I146N probably benign Het
Ptprn2 A G 12: 116,822,548 (GRCm39) Y209C probably damaging Het
Scart2 C A 7: 139,877,949 (GRCm39) A977D probably benign Het
Sema4c T A 1: 36,589,407 (GRCm39) D573V probably damaging Het
Skic3 G A 13: 76,295,886 (GRCm39) E1050K possibly damaging Het
Sp4 A G 12: 118,263,281 (GRCm39) L255P probably damaging Het
Spaca7 A G 8: 12,636,456 (GRCm39) Y94C probably damaging Het
Stt3a T G 9: 36,657,891 (GRCm39) I390L possibly damaging Het
Tars2 A G 3: 95,654,905 (GRCm39) W128R probably damaging Het
Tll1 G A 8: 64,504,527 (GRCm39) T623M probably damaging Het
Tmem129 A T 5: 33,812,850 (GRCm39) V166E probably damaging Het
Tmem200a T A 10: 25,870,051 (GRCm39) I73F probably benign Het
Tnks1bp1 T C 2: 84,900,976 (GRCm39) M1561T probably damaging Het
Zfat A T 15: 68,052,570 (GRCm39) I401N probably damaging Het
Zfp142 A T 1: 74,610,027 (GRCm39) V1153E probably benign Het
Zwilch T C 9: 64,060,205 (GRCm39) I354V 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
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'- CCACAGCAATAACAGTAAAGGTTTAGC -3'
(R):5'- TTGCCCATACACTCAGAAGC -3'

Sequencing Primer
(F):5'- CTGGGCAGTCTTGTGAA -3'
(R):5'- ACAAGGTCGCACTGTGTATC -3'
Posted On 2016-07-22