Incidental Mutation 'R7715:Ahctf1'
ID 594828
Institutional Source Beutler Lab
Gene Symbol Ahctf1
Ensembl Gene ENSMUSG00000026491
Gene Name AT hook containing transcription factor 1
Synonyms Elys, 6230412P20Rik
MMRRC Submission 045773-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7715 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 179572459-179631245 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 179598413 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 919 (M919T)
Ref Sequence ENSEMBL: ENSMUSP00000027768 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027768] [ENSMUST00000127250] [ENSMUST00000145968]
AlphaFold Q8CJF7
PDB Structure Nucleoporin ELYS (aa1-494), Mus musculus [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000027768
AA Change: M919T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000027768
Gene: ENSMUSG00000026491
AA Change: M919T

DomainStartEndE-ValueType
Pfam:ELYS-bb 1 489 1.6e-307 PFAM
Pfam:ELYS 722 955 2.5e-58 PFAM
low complexity region 1138 1155 N/A INTRINSIC
low complexity region 1180 1192 N/A INTRINSIC
low complexity region 1352 1366 N/A INTRINSIC
low complexity region 1597 1610 N/A INTRINSIC
low complexity region 1684 1694 N/A INTRINSIC
low complexity region 1834 1841 N/A INTRINSIC
low complexity region 1918 1935 N/A INTRINSIC
AT_hook 1955 1967 3.35e-1 SMART
low complexity region 2060 2066 N/A INTRINSIC
low complexity region 2073 2084 N/A INTRINSIC
low complexity region 2096 2108 N/A INTRINSIC
Blast:KISc 2164 2217 2e-12 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000127250
Predicted Effect probably benign
Transcript: ENSMUST00000145968
AA Change: M24T

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 99% (67/68)
MGI Phenotype PHENOTYPE: Homozygous null mice die between E3.5 and E5.5. The inner cell mass cells exhibit impaired proliferation and apoptosis when grown in culture. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik A G 1: 53,221,659 (GRCm39) F57L probably benign Het
Agl C T 3: 116,551,905 (GRCm39) R563Q Het
Ano4 A T 10: 88,831,173 (GRCm39) N483K probably damaging Het
Armt1 A G 10: 4,400,751 (GRCm39) K166R probably benign Het
Asgr2 T C 11: 69,987,721 (GRCm39) V73A probably benign Het
Atp6v0a2 A C 5: 124,791,262 (GRCm39) T564P probably damaging Het
B3gntl1 T C 11: 121,530,622 (GRCm39) T150A possibly damaging Het
Bach1 A G 16: 87,516,859 (GRCm39) I467V possibly damaging Het
Bicd1 A G 6: 149,414,471 (GRCm39) K395E probably benign Het
Cadps G A 14: 12,457,762 (GRCm38) P1040S probably benign Het
Calcoco2 TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC 11: 95,990,862 (GRCm39) probably null Het
Canx A G 11: 50,201,631 (GRCm39) S80P probably benign Het
Ccdc149 T A 5: 52,561,533 (GRCm39) probably null Het
Cd34 A T 1: 194,631,624 (GRCm39) N87Y probably damaging Het
Cdh11 T A 8: 103,391,346 (GRCm39) I297F possibly damaging Het
Cfap251 A G 5: 123,400,197 (GRCm39) N439D probably damaging Het
Cip2a A T 16: 48,834,347 (GRCm39) Q643L probably damaging Het
Col14a1 A G 15: 55,351,379 (GRCm39) I1569V unknown Het
Cxcr4 C T 1: 128,517,479 (GRCm39) V61M probably damaging Het
Cyp20a1 G A 1: 60,411,764 (GRCm39) V271M probably benign Het
Cyp2b23 T C 7: 26,381,120 (GRCm39) Y79C probably benign Het
Daam1 A G 12: 72,035,675 (GRCm39) K957E probably benign Het
Dip2c A G 13: 9,664,427 (GRCm39) K947E probably damaging Het
Efcab12 T C 6: 115,800,504 (GRCm39) K173R possibly damaging Het
Emc1 C T 4: 139,098,934 (GRCm39) R806C probably damaging Het
Epg5 G A 18: 78,011,801 (GRCm39) R816Q probably damaging Het
Faf1 G T 4: 109,568,011 (GRCm39) D24Y probably damaging Het
Fchsd1 A T 18: 38,099,695 (GRCm39) probably null Het
Foxp1 T C 6: 98,922,621 (GRCm39) T404A unknown Het
Fra10ac1 T C 19: 38,178,286 (GRCm39) E299G probably damaging Het
Gon4l A G 3: 88,815,313 (GRCm39) T1959A probably benign Het
Gpam A C 19: 55,077,353 (GRCm39) V146G probably benign Het
Hephl1 T A 9: 14,972,081 (GRCm39) D953V probably benign Het
Kcnc2 G T 10: 112,107,845 (GRCm39) E79* probably null Het
Kcnj12 T A 11: 60,957,778 (GRCm39) probably null Het
Llgl2 A T 11: 115,740,554 (GRCm39) T417S probably benign Het
Lrrc17 A T 5: 21,766,078 (GRCm39) N187Y probably damaging Het
Macc1 C T 12: 119,409,991 (GRCm39) A253V possibly damaging Het
Mark1 A G 1: 184,639,431 (GRCm39) S529P probably damaging Het
Mfsd6l T C 11: 68,448,376 (GRCm39) L409P probably damaging Het
Nek1 A G 8: 61,459,794 (GRCm39) E34G probably damaging Het
Nlrp3 T A 11: 59,433,829 (GRCm39) probably null Het
Obsl1 A T 1: 75,478,680 (GRCm39) V686D probably damaging Het
Or2l5 C T 16: 19,333,480 (GRCm39) R302K probably benign Het
Or55b10 T A 7: 102,143,668 (GRCm39) M105L possibly damaging Het
Or7h8 G A 9: 20,123,731 (GRCm39) G29R probably damaging Het
Or7h8 G A 9: 20,123,732 (GRCm39) G29E probably benign Het
Or8c15 T A 9: 38,120,775 (GRCm39) M140K probably benign Het
Or8g18 A T 9: 39,149,174 (GRCm39) L182H probably damaging Het
Ostm1 G A 10: 42,559,183 (GRCm39) G148R probably benign Het
Oxsr1 A G 9: 119,071,822 (GRCm39) S470P probably damaging Het
Pacs1 C T 19: 5,191,709 (GRCm39) M709I probably benign Het
Pan2 A G 10: 128,153,592 (GRCm39) M963V probably benign Het
Pds5a A G 5: 65,795,904 (GRCm39) L662P possibly damaging Het
Rsf1 GGCGGCGGC GGCGGCGGCCGCGGCGGC 7: 97,229,119 (GRCm39) probably benign Het
Sh2b2 T C 5: 136,247,889 (GRCm39) N554S probably benign Het
Sh3gl2 T A 4: 85,317,077 (GRCm39) probably null Het
Slc24a4 A G 12: 102,185,219 (GRCm39) M93V possibly damaging Het
Sohlh1 A G 2: 25,734,640 (GRCm39) S218P possibly damaging Het
Spast T A 17: 74,675,921 (GRCm39) N321K probably benign Het
Srcap T G 7: 127,148,460 (GRCm39) I1936S probably damaging Het
Themis G A 10: 28,739,305 (GRCm39) V592I probably benign Het
Tnfrsf1a C T 6: 125,338,377 (GRCm39) T296I possibly damaging Het
Ttk A G 9: 83,747,206 (GRCm39) T682A probably benign Het
Virma C T 4: 11,549,682 (GRCm39) R1807W probably damaging Het
Virma A G 4: 11,513,016 (GRCm39) probably null Het
Vmn2r101 T A 17: 19,832,177 (GRCm39) D724E probably damaging Het
Vmn2r11 A G 5: 109,195,307 (GRCm39) V673A probably damaging Het
Wbp4 C T 14: 79,703,734 (GRCm39) S271N probably benign Het
Other mutations in Ahctf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00757:Ahctf1 APN 1 179,596,696 (GRCm39) missense probably damaging 1.00
IGL01714:Ahctf1 APN 1 179,623,442 (GRCm39) missense probably damaging 0.99
IGL01787:Ahctf1 APN 1 179,580,887 (GRCm39) missense probably benign
IGL01997:Ahctf1 APN 1 179,583,027 (GRCm39) missense probably damaging 0.99
IGL02035:Ahctf1 APN 1 179,593,579 (GRCm39) missense probably benign 0.00
IGL02158:Ahctf1 APN 1 179,607,217 (GRCm39) missense possibly damaging 0.64
IGL02182:Ahctf1 APN 1 179,580,643 (GRCm39) missense probably benign 0.00
IGL02298:Ahctf1 APN 1 179,580,044 (GRCm39) missense probably benign 0.00
IGL02325:Ahctf1 APN 1 179,603,580 (GRCm39) missense probably benign 0.14
IGL02619:Ahctf1 APN 1 179,620,016 (GRCm39) missense possibly damaging 0.90
IGL02858:Ahctf1 APN 1 179,596,599 (GRCm39) missense probably damaging 0.96
IGL02893:Ahctf1 APN 1 179,603,576 (GRCm39) nonsense probably null
IGL02895:Ahctf1 APN 1 179,621,376 (GRCm39) missense probably damaging 1.00
IGL03180:Ahctf1 APN 1 179,602,895 (GRCm39) critical splice donor site probably null
IGL03220:Ahctf1 APN 1 179,615,767 (GRCm39) missense probably benign 0.01
cerebro UTSW 1 179,596,979 (GRCm39) missense probably damaging 0.99
R0003:Ahctf1 UTSW 1 179,591,038 (GRCm39) missense probably benign 0.04
R0024:Ahctf1 UTSW 1 179,580,001 (GRCm39) missense probably damaging 0.98
R0030:Ahctf1 UTSW 1 179,580,001 (GRCm39) missense probably damaging 0.98
R0432:Ahctf1 UTSW 1 179,611,726 (GRCm39) missense probably damaging 0.98
R0481:Ahctf1 UTSW 1 179,587,836 (GRCm39) missense probably benign 0.00
R0600:Ahctf1 UTSW 1 179,591,033 (GRCm39) critical splice donor site probably null
R0613:Ahctf1 UTSW 1 179,596,979 (GRCm39) missense probably damaging 0.99
R0814:Ahctf1 UTSW 1 179,590,473 (GRCm39) missense probably benign 0.26
R1055:Ahctf1 UTSW 1 179,591,051 (GRCm39) missense possibly damaging 0.46
R1473:Ahctf1 UTSW 1 179,626,844 (GRCm39) missense probably damaging 0.99
R1473:Ahctf1 UTSW 1 179,603,673 (GRCm39) missense probably benign 0.30
R1689:Ahctf1 UTSW 1 179,595,948 (GRCm39) missense probably damaging 0.96
R1778:Ahctf1 UTSW 1 179,580,580 (GRCm39) missense possibly damaging 0.57
R1878:Ahctf1 UTSW 1 179,603,074 (GRCm39) missense possibly damaging 0.96
R1925:Ahctf1 UTSW 1 179,598,218 (GRCm39) missense probably damaging 0.98
R2118:Ahctf1 UTSW 1 179,597,017 (GRCm39) missense probably damaging 1.00
R2122:Ahctf1 UTSW 1 179,597,017 (GRCm39) missense probably damaging 1.00
R2124:Ahctf1 UTSW 1 179,597,017 (GRCm39) missense probably damaging 1.00
R2373:Ahctf1 UTSW 1 179,623,361 (GRCm39) missense probably damaging 1.00
R2509:Ahctf1 UTSW 1 179,598,258 (GRCm39) missense possibly damaging 0.51
R2697:Ahctf1 UTSW 1 179,580,097 (GRCm39) missense probably damaging 0.99
R3035:Ahctf1 UTSW 1 179,581,435 (GRCm39) missense probably damaging 1.00
R3155:Ahctf1 UTSW 1 179,583,148 (GRCm39) missense probably damaging 0.98
R3899:Ahctf1 UTSW 1 179,605,345 (GRCm39) missense possibly damaging 0.95
R4036:Ahctf1 UTSW 1 179,590,181 (GRCm39) missense possibly damaging 0.61
R4681:Ahctf1 UTSW 1 179,580,361 (GRCm39) missense probably benign 0.27
R4695:Ahctf1 UTSW 1 179,580,619 (GRCm39) missense possibly damaging 0.78
R4735:Ahctf1 UTSW 1 179,580,964 (GRCm39) missense probably benign 0.00
R4857:Ahctf1 UTSW 1 179,626,922 (GRCm39) unclassified probably benign
R4898:Ahctf1 UTSW 1 179,583,077 (GRCm39) missense probably benign 0.02
R4905:Ahctf1 UTSW 1 179,576,192 (GRCm39) missense probably damaging 1.00
R5011:Ahctf1 UTSW 1 179,611,675 (GRCm39) missense possibly damaging 0.92
R5013:Ahctf1 UTSW 1 179,611,675 (GRCm39) missense possibly damaging 0.92
R5053:Ahctf1 UTSW 1 179,614,349 (GRCm39) missense possibly damaging 0.82
R5207:Ahctf1 UTSW 1 179,621,159 (GRCm39) intron probably benign
R5319:Ahctf1 UTSW 1 179,596,615 (GRCm39) missense probably damaging 1.00
R5343:Ahctf1 UTSW 1 179,598,199 (GRCm39) nonsense probably null
R5546:Ahctf1 UTSW 1 179,581,633 (GRCm39) missense probably benign 0.01
R5718:Ahctf1 UTSW 1 179,596,904 (GRCm39) missense possibly damaging 0.54
R5862:Ahctf1 UTSW 1 179,615,895 (GRCm39) missense probably damaging 1.00
R5958:Ahctf1 UTSW 1 179,574,107 (GRCm39) unclassified probably benign
R6010:Ahctf1 UTSW 1 179,623,378 (GRCm39) missense possibly damaging 0.80
R6081:Ahctf1 UTSW 1 179,609,237 (GRCm39) missense probably benign 0.07
R6093:Ahctf1 UTSW 1 179,590,517 (GRCm39) missense probably benign 0.01
R6207:Ahctf1 UTSW 1 179,604,955 (GRCm39) splice site probably null
R6268:Ahctf1 UTSW 1 179,591,048 (GRCm39) missense probably benign 0.08
R6656:Ahctf1 UTSW 1 179,581,078 (GRCm39) missense probably benign 0.05
R6668:Ahctf1 UTSW 1 179,579,972 (GRCm39) missense probably benign 0.04
R6788:Ahctf1 UTSW 1 179,580,199 (GRCm39) missense probably benign 0.00
R6860:Ahctf1 UTSW 1 179,580,853 (GRCm39) missense probably benign 0.04
R6998:Ahctf1 UTSW 1 179,598,480 (GRCm39) nonsense probably null
R7082:Ahctf1 UTSW 1 179,602,898 (GRCm39) missense probably benign 0.15
R7385:Ahctf1 UTSW 1 179,580,946 (GRCm39) missense possibly damaging 0.66
R7414:Ahctf1 UTSW 1 179,611,670 (GRCm39) missense probably benign 0.00
R7663:Ahctf1 UTSW 1 179,617,879 (GRCm39) missense possibly damaging 0.66
R7673:Ahctf1 UTSW 1 179,590,411 (GRCm39) missense probably benign 0.02
R7819:Ahctf1 UTSW 1 179,595,880 (GRCm39) missense probably benign
R7846:Ahctf1 UTSW 1 179,614,638 (GRCm39) missense probably damaging 0.99
R7912:Ahctf1 UTSW 1 179,580,656 (GRCm39) missense probably benign 0.00
R7942:Ahctf1 UTSW 1 179,613,660 (GRCm39) missense possibly damaging 0.66
R8282:Ahctf1 UTSW 1 179,605,371 (GRCm39) missense possibly damaging 0.68
R8376:Ahctf1 UTSW 1 179,610,520 (GRCm39) missense probably damaging 0.99
R8439:Ahctf1 UTSW 1 179,590,175 (GRCm39) missense possibly damaging 0.89
R8482:Ahctf1 UTSW 1 179,591,107 (GRCm39) unclassified probably benign
R8683:Ahctf1 UTSW 1 179,623,321 (GRCm39) missense possibly damaging 0.70
R8734:Ahctf1 UTSW 1 179,608,430 (GRCm39) nonsense probably null
R8855:Ahctf1 UTSW 1 179,614,341 (GRCm39) missense probably damaging 0.99
R8928:Ahctf1 UTSW 1 179,596,626 (GRCm39) missense possibly damaging 0.49
R9009:Ahctf1 UTSW 1 179,581,171 (GRCm39) missense probably benign 0.11
R9106:Ahctf1 UTSW 1 179,614,601 (GRCm39) missense probably benign 0.04
R9228:Ahctf1 UTSW 1 179,611,685 (GRCm39) missense probably benign 0.28
R9408:Ahctf1 UTSW 1 179,603,638 (GRCm39) missense possibly damaging 0.46
R9800:Ahctf1 UTSW 1 179,581,433 (GRCm39) missense possibly damaging 0.77
X0067:Ahctf1 UTSW 1 179,605,269 (GRCm39) missense probably damaging 0.99
Z1177:Ahctf1 UTSW 1 179,621,295 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTCAACACTGGTACTGGACTG -3'
(R):5'- CTTAAAATTGAGGTTCCCAGATGC -3'

Sequencing Primer
(F):5'- CTGGTACTGGACTGTAAAAATTTCAC -3'
(R):5'- TCCGTAACAGCTAGAGTGGATTCC -3'
Posted On 2019-11-12