Incidental Mutation 'R6207:Ahctf1'
ID 503167
Institutional Source Beutler Lab
Gene Symbol Ahctf1
Ensembl Gene ENSMUSG00000026491
Gene Name AT hook containing transcription factor 1
Synonyms Elys, 6230412P20Rik
MMRRC Submission 044341-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6207 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 179572459-179631245 bp(-) (GRCm39)
Type of Mutation splice site (113 bp from exon)
DNA Base Change (assembly) A to T at 179604955 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 null
Transcript: ENSMUST00000027768
SMART Domains Protein: ENSMUSP00000027768
Gene: ENSMUSG00000026491

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: 99.5%
  • 20x: 98.5%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930451I11Rik G A 7: 126,430,065 (GRCm39) P69S probably damaging Het
Abca15 A G 7: 119,973,017 (GRCm39) R864G probably benign Het
Acbd5 T C 2: 22,959,490 (GRCm39) C15R possibly damaging Het
Ak3 T A 19: 29,000,340 (GRCm39) K190N probably damaging Het
B4galnt3 A T 6: 120,183,575 (GRCm39) probably null Het
Calcrl T C 2: 84,163,874 (GRCm39) H439R probably benign Het
Casp7 T A 19: 56,429,452 (GRCm39) D279E possibly damaging Het
Cckar A G 5: 53,857,186 (GRCm39) V337A probably benign Het
Cep85l T C 10: 53,157,651 (GRCm39) Y684C probably benign Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Homo
Commd7 T C 2: 153,474,530 (GRCm39) N23S possibly damaging Het
Cpne9 A T 6: 113,271,734 (GRCm39) I365F possibly damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dot1l C T 10: 80,622,277 (GRCm39) A831V probably benign Het
Entrep1 T C 19: 23,950,802 (GRCm39) E593G probably damaging Het
Epcam C A 17: 87,947,864 (GRCm39) N111K probably damaging Het
Etnk1 A G 6: 143,126,524 (GRCm39) Q123R probably damaging Het
Fam170a A T 18: 50,415,017 (GRCm39) E221V probably damaging Het
Fbl T C 7: 27,874,278 (GRCm39) S88P possibly damaging Het
Fbxo36 T A 1: 84,874,251 (GRCm39) Y82* probably null Het
Fer1l5 A G 1: 36,424,241 (GRCm39) K285R probably damaging Het
Foxn3 G T 12: 99,162,569 (GRCm39) T444K probably damaging Het
Gak C T 5: 108,772,895 (GRCm39) probably null Het
Gprc6a T C 10: 51,502,931 (GRCm39) I311V probably benign Het
Hrg T C 16: 22,773,288 (GRCm39) probably null Het
Htatip2 G A 7: 49,420,567 (GRCm39) V138I probably benign Het
Ighv1-4 A T 12: 114,451,142 (GRCm39) probably benign Het
Kcnq2 T C 2: 180,755,026 (GRCm39) M174V possibly damaging Het
Krt39 G T 11: 99,412,041 (GRCm39) P15Q probably damaging Het
L1td1 G A 4: 98,625,655 (GRCm39) D617N possibly damaging Het
Lgalsl T A 11: 20,779,382 (GRCm39) K88* probably null Het
Lims1 A T 10: 58,230,386 (GRCm39) K49M possibly damaging Het
Man2a1 T C 17: 65,020,600 (GRCm39) V792A probably benign Het
Mcm2 G T 6: 88,862,844 (GRCm39) D749E probably benign Het
Mdga1 G A 17: 30,057,491 (GRCm39) T775M probably damaging Het
Myb A G 10: 21,021,221 (GRCm39) S403P probably benign Het
Nek6 T C 2: 38,447,846 (GRCm39) S37P possibly damaging Het
Or10d1b T C 9: 39,613,606 (GRCm39) H153R probably benign Het
Or14c46 A C 7: 85,918,968 (GRCm39) F10V probably damaging Het
Or52a33 A G 7: 103,289,209 (GRCm39) V46A probably benign Het
Or56b2j G A 7: 104,352,818 (GRCm39) V15M probably damaging Het
Peg10 GAT GATCAT 6: 4,756,449 (GRCm39) probably benign Het
Prpf40a T C 2: 53,047,927 (GRCm39) M197V probably benign Het
Prune2 T A 19: 17,095,480 (GRCm39) I328N probably damaging Het
Psap T A 10: 60,136,317 (GRCm39) C484S probably damaging Het
Pus1 T C 5: 110,925,580 (GRCm39) D80G probably benign Het
Rasa3 T C 8: 13,648,251 (GRCm39) T138A possibly damaging Het
Scaf1 G T 7: 44,657,047 (GRCm39) probably benign Het
Skap1 T A 11: 96,594,959 (GRCm39) Y143* probably null Het
Slc22a20 A G 19: 6,035,969 (GRCm39) L67P probably damaging Het
Slc25a17 T C 15: 81,213,265 (GRCm39) Y146C probably damaging Het
Slfn4 C T 11: 83,079,951 (GRCm39) T154I possibly damaging Het
Snai1 T A 2: 167,380,229 (GRCm39) V7D probably damaging Het
Snrnp200 T A 2: 127,052,655 (GRCm39) M84K probably benign Het
Spop G T 11: 95,362,063 (GRCm39) K31N possibly damaging Het
Surf1 T C 2: 26,804,819 (GRCm39) T145A probably benign Het
Tbkbp1 T C 11: 97,037,165 (GRCm39) E278G probably damaging Het
Thumpd2 G A 17: 81,363,266 (GRCm39) A67V probably damaging Het
Timd4 A T 11: 46,706,353 (GRCm39) M52L probably damaging Het
Trav16 A T 14: 53,981,045 (GRCm39) N78I probably damaging Het
Tspan12 T C 6: 21,799,907 (GRCm39) T147A probably damaging Het
Tulp1 A T 17: 28,577,651 (GRCm39) probably benign Het
Ubqlnl A T 7: 103,797,915 (GRCm39) N527K possibly damaging Het
Ubr4 G A 4: 139,148,559 (GRCm39) C1681Y probably damaging Het
Unc13c T C 9: 73,665,910 (GRCm39) K1037E possibly damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r4 G A 3: 64,313,926 (GRCm39) H352Y probably damaging Het
Vmn2r61 A T 7: 41,909,616 (GRCm39) H47L probably benign Het
Vwa5a A G 9: 38,633,968 (GRCm39) E57G probably damaging Het
Zfp180 A T 7: 23,804,510 (GRCm39) R310* probably null Het
Zfp672 T C 11: 58,208,349 (GRCm39) 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
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'- ATCAAACCTGAGACCTGGGC -3'
(R):5'- TACTGGACATAGGCTAGGGAAC -3'

Sequencing Primer
(F):5'- GGCCACCACTCATGCACTG -3'
(R):5'- GATGCATTGATGGTTTTATCTTCTCC -3'
Posted On 2018-02-27