Incidental Mutation 'R8855:Ahctf1'
ID 675212
Institutional Source Beutler Lab
Gene Symbol Ahctf1
Ensembl Gene ENSMUSG00000026491
Gene Name AT hook containing transcription factor 1
Synonyms Elys, 6230412P20Rik
MMRRC Submission 068736-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8855 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 179572459-179631245 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 179614341 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 451 (H451Y)
Ref Sequence ENSEMBL: ENSMUSP00000027768 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027768]
AlphaFold Q8CJF7
PDB Structure Nucleoporin ELYS (aa1-494), Mus musculus [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000027768
AA Change: H451Y

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000027768
Gene: ENSMUSG00000026491
AA Change: H451Y

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 C T 3: 59,914,511 (GRCm39) T38I probably benign Het
Ace T A 11: 105,861,424 (GRCm39) L191* probably null Het
Amotl1 C A 9: 14,466,869 (GRCm39) probably null Het
Angptl6 T A 9: 20,786,940 (GRCm39) Y261F probably damaging Het
Arhgap1 G T 2: 91,499,744 (GRCm39) S293I probably benign Het
Atg9a A C 1: 75,161,867 (GRCm39) F560V probably damaging Het
B4galnt4 G A 7: 140,648,488 (GRCm39) G668D possibly damaging Het
Btaf1 T A 19: 36,935,901 (GRCm39) N230K probably benign Het
Ccne1 A C 7: 37,800,046 (GRCm39) H179Q probably benign Het
Cdk5rap2 A T 4: 70,218,887 (GRCm39) D623E probably damaging Het
Cenpf C A 1: 189,385,430 (GRCm39) K2283N probably benign Het
Clec16a A T 16: 10,462,731 (GRCm39) D683V probably damaging Het
Clvs2 T C 10: 33,404,400 (GRCm39) D272G probably benign Het
Cnksr1 A G 4: 133,959,494 (GRCm39) V380A probably damaging Het
Col20a1 C A 2: 180,655,684 (GRCm39) P42T Het
Ddx47 A G 6: 135,000,356 (GRCm39) K451E probably benign Het
Dennd4a G A 9: 64,819,672 (GRCm39) G1761D probably benign Het
Dnah11 T A 12: 118,156,107 (GRCm39) H181L probably benign Het
Dync1h1 T C 12: 110,602,333 (GRCm39) C2074R probably damaging Het
Ell2 A T 13: 75,917,793 (GRCm39) Q574H probably damaging Het
Enpp7 A G 11: 118,879,191 (GRCm39) N50S possibly damaging Het
Fbp2 T C 13: 62,989,709 (GRCm39) K199R probably benign Het
Fetub A T 16: 22,758,321 (GRCm39) E368V possibly damaging Het
Flt1 A T 5: 147,507,682 (GRCm39) D1209E probably benign Het
Flt1 A T 5: 147,618,460 (GRCm39) N260K probably damaging Het
Fras1 A G 5: 96,917,465 (GRCm39) H3495R Het
Fsip2 A G 2: 82,810,521 (GRCm39) Q2280R probably benign Het
Gja10 A T 4: 32,601,573 (GRCm39) C270* probably null Het
Gpld1 A G 13: 25,170,890 (GRCm39) T794A probably benign Het
Gsk3b A G 16: 38,004,900 (GRCm39) Y157C probably damaging Het
Gsta2 T C 9: 78,244,880 (GRCm39) K78R probably damaging Het
Gtf3a A G 5: 146,885,721 (GRCm39) D44G probably benign Het
Hap1 C A 11: 100,246,864 (GRCm39) G14W probably damaging Het
Hcn4 T A 9: 58,765,387 (GRCm39) I623N unknown Het
Kank1 T C 19: 25,388,702 (GRCm39) S792P possibly damaging Het
Klra5 A T 6: 129,880,533 (GRCm39) W212R probably damaging Het
Kmt2d A T 15: 98,754,237 (GRCm39) L1622Q unknown Het
Lipi T A 16: 75,355,481 (GRCm39) D343V probably damaging Het
Lrp6 A T 6: 134,445,785 (GRCm39) N1009K probably benign Het
Lrrc39 T A 3: 116,363,790 (GRCm39) I121N probably damaging Het
Mamstr A T 7: 45,294,403 (GRCm39) D419V probably benign Het
Map2k7 C T 8: 4,293,594 (GRCm39) T119I probably damaging Het
Mov10l1 A T 15: 88,896,169 (GRCm39) D671V probably benign Het
Mrps24 A T 11: 5,654,642 (GRCm39) L104Q probably damaging Het
Myh1 T A 11: 67,102,247 (GRCm39) L846H probably damaging Het
Ndufaf5 T A 2: 140,025,840 (GRCm39) I133N possibly damaging Het
Ndufs5 A G 4: 123,609,655 (GRCm39) probably null Het
Numa1 G C 7: 101,639,835 (GRCm39) D62H possibly damaging Het
Or10g3 A T 14: 52,610,196 (GRCm39) Y105N probably damaging Het
Or52e19 T A 7: 102,959,168 (GRCm39) I80N probably damaging Het
Or52p2 G T 7: 102,237,945 (GRCm39) Q2K probably benign Het
Or8b12c C G 9: 37,715,709 (GRCm39) F167L probably damaging Het
Pag1 T C 3: 9,764,529 (GRCm39) K208R probably benign Het
Pkd1 T C 17: 24,792,051 (GRCm39) V1246A probably damaging Het
Plekhg2 T C 7: 28,069,526 (GRCm39) T144A probably benign Het
Plekhm2 A T 4: 141,361,658 (GRCm39) S262T probably benign Het
Pramel14 A T 4: 143,720,905 (GRCm39) L12Q probably damaging Het
Prpf4 A G 4: 62,334,235 (GRCm39) D230G probably benign Het
Rbm15b C T 9: 106,763,595 (GRCm39) R191Q probably benign Het
Sec16a G A 2: 26,329,852 (GRCm39) T721I probably benign Het
Serpinb6c A T 13: 34,083,309 (GRCm39) I35N probably damaging Het
Sgk1 T G 10: 21,871,726 (GRCm39) S181A probably benign Het
Slc25a10 T C 11: 120,385,795 (GRCm39) S74P probably damaging Het
Slc30a3 C A 5: 31,245,325 (GRCm39) V332F possibly damaging Het
Smg1 A G 7: 117,806,122 (GRCm39) S240P unknown Het
Snapc4 G A 2: 26,264,545 (GRCm39) R265W probably damaging Het
Taar1 C T 10: 23,796,976 (GRCm39) R225C possibly damaging Het
Tmem74 A G 15: 43,730,231 (GRCm39) S271P probably damaging Het
Trank1 T C 9: 111,141,289 (GRCm39) V127A unknown Het
Trim66 G T 7: 109,081,188 (GRCm39) H244N probably damaging Het
Tshz2 T A 2: 169,728,425 (GRCm39) L1007H probably damaging Het
Ttc39c A T 18: 12,831,003 (GRCm39) S288C probably benign Het
Twnk C T 19: 45,000,272 (GRCm39) Q663* probably null Het
Ucn T A 5: 31,295,857 (GRCm39) Q3L probably benign Het
Usp9y C T Y: 1,395,758 (GRCm39) R492H probably damaging Het
Vars1 T C 17: 35,234,620 (GRCm39) S1150P probably benign Het
Zc3h7b G A 15: 81,656,681 (GRCm39) R166Q probably benign Het
Zfand1 T C 3: 10,405,811 (GRCm39) D264G probably benign Het
Zfp839 A G 12: 110,834,848 (GRCm39) E701G 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
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
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'- ATTCCTTTTGAGATAGTGACAAACTT -3'
(R):5'- GGTATGATTACTATGTTTTCTCACCC -3'

Sequencing Primer
(F):5'- GAAACATACAGCTGACATAC -3'
(R):5'- CCCTCTCCCTCAGATATTGTTATG -3'
Posted On 2021-07-15