Incidental Mutation 'R4735:Ahctf1'
ID 356420
Institutional Source Beutler Lab
Gene Symbol Ahctf1
Ensembl Gene ENSMUSG00000026491
Gene Name AT hook containing transcription factor 1
Synonyms Elys, 6230412P20Rik
MMRRC Submission 041962-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4735 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 179572459-179631245 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 179580964 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 1746 (N1746S)
Ref Sequence ENSEMBL: ENSMUSP00000027768 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027768] [ENSMUST00000125816]
AlphaFold Q8CJF7
PDB Structure Nucleoporin ELYS (aa1-494), Mus musculus [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000027768
AA Change: N1746S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000027768
Gene: ENSMUSG00000026491
AA Change: N1746S

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: ENSMUST00000125816
Predicted Effect probably benign
Transcript: ENSMUST00000140489
SMART Domains Protein: ENSMUSP00000115253
Gene: ENSMUSG00000026491

DomainStartEndE-ValueType
low complexity region 21 33 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151734
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency
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: 133 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,262,897 (GRCm39) I1410N possibly damaging Het
9230106D20Rik T C 10: 19,536,001 (GRCm39) noncoding transcript Het
Acsf3 T A 8: 123,508,218 (GRCm39) I238N probably damaging Het
Akap3 T C 6: 126,842,601 (GRCm39) S407P probably damaging Het
Ankfy1 T A 11: 72,621,437 (GRCm39) M241K probably benign Het
Ano7 C A 1: 93,328,216 (GRCm39) T622K probably benign Het
App T C 16: 84,900,202 (GRCm39) T83A probably damaging Het
Arhgef28 T A 13: 98,036,237 (GRCm39) E1674V probably damaging Het
Asb2 C A 12: 103,291,317 (GRCm39) V489L probably benign Het
Atrn T C 2: 130,862,910 (GRCm39) V1330A probably benign Het
Bltp1 T A 3: 37,059,116 (GRCm39) N3267K possibly damaging Het
Brca1 A G 11: 101,383,001 (GRCm39) probably null Het
Bspry G A 4: 62,404,762 (GRCm39) R186Q probably damaging Het
Ccdc168 A G 1: 44,100,861 (GRCm39) I79T probably benign Het
Cdkn2d C G 9: 21,202,185 (GRCm39) V21L probably benign Het
Celsr1 T A 15: 85,790,230 (GRCm39) probably null Het
Ckap4 A G 10: 84,369,384 (GRCm39) V116A possibly damaging Het
Crb3 A G 17: 57,372,207 (GRCm39) T85A probably damaging Het
Cyld T C 8: 89,456,278 (GRCm39) S443P probably damaging Het
Cyp27a1 T G 1: 74,776,366 (GRCm39) V434G possibly damaging Het
Cyp2b13 A G 7: 25,787,720 (GRCm39) T339A probably benign Het
Dars1 A T 1: 128,303,971 (GRCm39) L252* probably null Het
Dcaf10 G A 4: 45,372,769 (GRCm39) R394Q possibly damaging Het
Ddx55 T C 5: 124,704,539 (GRCm39) F382S probably damaging Het
Dmtf1l T A X: 125,722,217 (GRCm39) K296M probably damaging Het
Dnah7b G A 1: 46,106,115 (GRCm39) R33Q unknown Het
Dnm2 G T 9: 21,385,883 (GRCm39) S302I probably damaging Het
Dock4 T A 12: 40,681,525 (GRCm39) F75I probably benign Het
Dpp10 T C 1: 123,326,356 (GRCm39) N365S probably benign Het
Dpy19l3 G T 7: 35,422,146 (GRCm39) Q236K probably benign Het
Dsp T C 13: 38,380,016 (GRCm39) S1655P probably damaging Het
Ebpl A T 14: 61,579,567 (GRCm39) I117N probably damaging Het
Edc4 T A 8: 106,613,818 (GRCm39) V386E probably damaging Het
Eif2s2 T A 2: 154,720,467 (GRCm39) probably null Het
Elob A T 17: 24,046,562 (GRCm39) probably null Het
Enox2 T C X: 48,158,554 (GRCm39) I71V probably damaging Het
Fez1 A T 9: 36,772,141 (GRCm39) K149* probably null Het
Fhip2a A G 19: 57,359,661 (GRCm39) E67G probably damaging Het
Fign A G 2: 63,810,782 (GRCm39) Y163H probably damaging Het
Flnc G A 6: 29,455,812 (GRCm39) G2048S probably damaging Het
Fras1 A G 5: 96,736,022 (GRCm39) D539G probably benign Het
Frmd4b T C 6: 97,436,220 (GRCm39) probably benign Het
Gan C T 8: 117,920,970 (GRCm39) T402M probably damaging Het
Ganc T A 2: 120,267,104 (GRCm39) silent Het
Ggt6 C A 11: 72,327,425 (GRCm39) R103S probably benign Het
Gli2 T C 1: 118,768,052 (GRCm39) D725G probably damaging Het
Gm15446 T A 5: 110,090,818 (GRCm39) C357S probably damaging Het
Gm44501 A G 17: 40,889,810 (GRCm39) N108S probably benign Het
Gm6309 A T 5: 146,105,054 (GRCm39) D286E probably damaging Het
Gm6358 G A 16: 88,937,848 (GRCm39) G29E unknown Het
Grik5 A G 7: 24,757,713 (GRCm39) I422T probably damaging Het
Grin2c A G 11: 115,140,422 (GRCm39) I1232T possibly damaging Het
Gsg1 C T 6: 135,214,405 (GRCm39) R365H possibly damaging Het
H2-M2 A G 17: 37,794,135 (GRCm39) S30P possibly damaging Het
Hcfc2 A G 10: 82,547,914 (GRCm39) D302G probably damaging Het
Hk2 T C 6: 82,721,955 (GRCm39) D128G probably benign Het
Hmcn2 C A 2: 31,273,787 (GRCm39) Q1380K probably benign Het
Hsp90b1 G T 10: 86,529,819 (GRCm39) P617T probably damaging Het
Htr1d A G 4: 136,170,197 (GRCm39) E142G probably benign Het
Hydin G A 8: 111,282,264 (GRCm39) probably null Het
Il1r1 T A 1: 40,332,455 (GRCm39) N81K probably benign Het
Inpp5b T C 4: 124,677,760 (GRCm39) S407P probably damaging Het
Itpkb T C 1: 180,245,780 (GRCm39) Y766H probably damaging Het
Lyrm2 T A 4: 32,801,150 (GRCm39) I65N probably damaging Het
Mink1 T A 11: 70,500,086 (GRCm39) probably null Het
Mkrn3 C T 7: 62,069,452 (GRCm39) R113H probably damaging Het
Msx3 G A 7: 139,627,798 (GRCm39) A157V probably damaging Het
Nrxn2 T G 19: 6,548,484 (GRCm39) V59G possibly damaging Het
Nt5c3b T C 11: 100,331,732 (GRCm39) T12A probably benign Het
Nwd2 G A 5: 63,965,594 (GRCm39) R1726Q probably benign Het
Nynrin A G 14: 56,107,625 (GRCm39) T911A probably benign Het
Or11i1 T A 3: 106,728,996 (GRCm39) Y293F probably damaging Het
Or4p18 T C 2: 88,233,267 (GRCm39) T4A probably benign Het
Or51aa5 A G 7: 103,167,030 (GRCm39) I187T possibly damaging Het
Or51af1 C T 7: 103,141,267 (GRCm39) V273M possibly damaging Het
Or52n20 C T 7: 104,320,200 (GRCm39) T97I probably benign Het
Or5p66 A G 7: 107,885,520 (GRCm39) M271T probably benign Het
Or6c212 A G 10: 129,558,792 (GRCm39) I207T probably benign Het
Patl1 G T 19: 11,899,869 (GRCm39) M220I probably benign Het
Pcnx2 A T 8: 126,554,780 (GRCm39) probably null Het
Pigr A T 1: 130,774,291 (GRCm39) T424S probably damaging Het
Pik3c2b T A 1: 132,994,787 (GRCm39) D250E probably benign Het
Ppa2 G A 3: 133,076,186 (GRCm39) E272K probably benign Het
Pramel7 G A 2: 87,321,187 (GRCm39) Q283* probably null Het
Prelid3b A G 2: 174,307,683 (GRCm39) I81T probably benign Het
Prpf38a T C 4: 108,436,242 (GRCm39) I24V possibly damaging Het
Ptger2 A G 14: 45,239,295 (GRCm39) D311G possibly damaging Het
Rab4b A T 7: 26,872,191 (GRCm39) probably benign Het
Rad17 A C 13: 100,755,637 (GRCm39) D581E probably damaging Het
Samd11 T C 4: 156,333,230 (GRCm39) T333A probably benign Het
Scaf4 C T 16: 90,049,320 (GRCm39) D256N unknown Het
Serinc2 A G 4: 130,157,438 (GRCm39) F82L probably benign Het
Serpina3g T A 12: 104,205,372 (GRCm39) V37E probably damaging Het
Serpinb9c T A 13: 33,334,254 (GRCm39) M263L probably benign Het
Shbg A G 11: 69,508,326 (GRCm39) I67T possibly damaging Het
Slc25a48 G A 13: 56,596,887 (GRCm39) probably null Het
Slc25a54 T C 3: 109,005,923 (GRCm39) W144R probably damaging Het
Slc34a1 A T 13: 55,561,397 (GRCm39) T621S probably benign Het
Slc6a18 A T 13: 73,814,554 (GRCm39) C419S probably benign Het
Smc5 A T 19: 23,220,069 (GRCm39) D389E probably benign Het
Smco3 T A 6: 136,808,636 (GRCm39) E79D probably damaging Het
Sox5 A G 6: 143,906,561 (GRCm39) F298S probably damaging Het
Sphkap A G 1: 83,256,838 (GRCm39) S304P probably benign Het
Tcea2 C T 2: 181,328,514 (GRCm39) T211I probably damaging Het
Tcf4 G T 18: 69,697,226 (GRCm39) S34I possibly damaging Het
Tlr4 C T 4: 66,759,435 (GRCm39) R743C probably damaging Het
Tmem183a T C 1: 134,288,620 (GRCm39) E67G probably damaging Het
Tpr C T 1: 150,317,947 (GRCm39) R2152C possibly damaging Het
Trbv15 T C 6: 41,118,358 (GRCm39) I38T probably benign Het
Treh G A 9: 44,592,849 (GRCm39) A125T probably damaging Het
Trio A T 15: 27,752,875 (GRCm39) probably null Het
Ttn A G 2: 76,782,293 (GRCm39) V981A probably damaging Het
Uap1l1 A G 2: 25,252,732 (GRCm39) L436P probably damaging Het
Uba7 A T 9: 107,854,115 (GRCm39) I182F possibly damaging Het
Unc13c A T 9: 73,600,620 (GRCm39) S1375T probably benign Het
Usp48 C CT 4: 137,360,680 (GRCm39) probably null Het
Utp20 A C 10: 88,652,780 (GRCm39) V378G possibly damaging Het
Vmn1r69 A T 7: 10,314,926 (GRCm39) probably benign Het
Vmn1r86 A T 7: 12,836,221 (GRCm39) H218Q probably damaging Het
Vmn2r121 T A X: 123,038,335 (GRCm39) I562L probably benign Het
Vmn2r45 A T 7: 8,486,472 (GRCm39) I272N probably damaging Het
Wdr90 A G 17: 26,078,424 (GRCm39) V320A probably benign Het
Wfikkn1 A G 17: 26,097,367 (GRCm39) V319A possibly damaging Het
Whamm A G 7: 81,221,122 (GRCm39) D18G probably benign Het
Wrn T A 8: 33,775,250 (GRCm39) I605F probably damaging Het
Zdhhc18 A G 4: 133,341,178 (GRCm39) F232L probably damaging Het
Zfp41 T C 15: 75,490,609 (GRCm39) I187T probably benign Het
Zfp418 A G 7: 7,185,561 (GRCm39) Y508C probably damaging Het
Zfp560 T G 9: 20,260,347 (GRCm39) I172L probably benign Het
Zfp943 A T 17: 22,211,391 (GRCm39) D159V probably benign Het
Zfp955a T C 17: 33,460,696 (GRCm39) I479V probably benign Het
Zfpm1 T A 8: 123,062,219 (GRCm39) V426D probably benign Het
Zic1 C T 9: 91,246,558 (GRCm39) M171I possibly damaging 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
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
R7715:Ahctf1 UTSW 1 179,598,413 (GRCm39) missense probably benign 0.00
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'- AGTGTGCCTTGGCTAACGTC -3'
(R):5'- ACCGGTTAAAGTGGCAATTGC -3'

Sequencing Primer
(F):5'- GCCTTGGCTAACGTCCTTCTTC -3'
(R):5'- TAAGGAAGCAACTCCCGTGGC -3'
Posted On 2015-11-11