Incidental Mutation 'R6860:Ahctf1'
ID 535403
Institutional Source Beutler Lab
Gene Symbol Ahctf1
Ensembl Gene ENSMUSG00000026491
Gene Name AT hook containing transcription factor 1
Synonyms Elys, 6230412P20Rik
MMRRC Submission 045025-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6860 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 179572459-179631245 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 179580853 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 1783 (A1783E)
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: A1783E

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000027768
Gene: ENSMUSG00000026491
AA Change: A1783E

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 100% (86/86)
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik T C 11: 72,080,412 (GRCm39) E418G probably damaging Het
9930012K11Rik C A 14: 70,395,071 (GRCm39) V28L possibly damaging Het
Abtb2 C T 2: 103,539,770 (GRCm39) R712* probably null Het
Acvr1c C T 2: 58,177,717 (GRCm39) G171S probably damaging Het
Anapc4 A T 5: 53,006,170 (GRCm39) Q149L probably damaging Het
Ankrd27 T C 7: 35,327,952 (GRCm39) V824A possibly damaging Het
Ankrd31 G C 13: 96,968,094 (GRCm39) C577S probably benign Het
Apol7c T C 15: 77,410,274 (GRCm39) N224S probably benign Het
Arl14 A T 3: 69,130,029 (GRCm39) T59S probably benign Het
Astn1 T A 1: 158,440,042 (GRCm39) I870K probably damaging Het
B4galt1 A T 4: 40,807,796 (GRCm39) V335E probably benign Het
C2cd3 C T 7: 100,039,448 (GRCm39) P216S probably benign Het
Cchcr1 C A 17: 35,840,015 (GRCm39) N711K possibly damaging Het
Chd2 A G 7: 73,147,558 (GRCm39) F467L possibly damaging Het
Cntn6 A T 6: 104,838,907 (GRCm39) E987V possibly damaging Het
Col11a2 T A 17: 34,272,572 (GRCm39) L286H probably damaging Het
Cwc22 C T 2: 77,759,792 (GRCm39) R85Q possibly damaging Het
Cyp7a1 A C 4: 6,272,587 (GRCm39) F209V probably damaging Het
Dmtn T C 14: 70,852,322 (GRCm39) T189A possibly damaging Het
Dnhd1 C G 7: 105,327,473 (GRCm39) N777K probably benign Het
Dusp16 A T 6: 134,702,842 (GRCm39) C216* probably null Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fbn1 T C 2: 125,170,078 (GRCm39) N1993S probably damaging Het
Fbxw22 A G 9: 109,213,030 (GRCm39) S306P probably benign Het
Ferd3l T C 12: 33,978,651 (GRCm39) S55P probably benign Het
Fpr-rs3 A G 17: 20,844,560 (GRCm39) S194P possibly damaging Het
Gm19965 G A 1: 116,748,609 (GRCm39) D97N probably benign Het
Gtpbp2 A G 17: 46,478,914 (GRCm39) probably benign Het
H3c7 G T 13: 23,728,760 (GRCm39) V36L probably benign Het
Hcn3 A C 3: 89,067,152 (GRCm39) I72S possibly damaging Het
Hk3 T A 13: 55,162,278 (GRCm39) N109Y probably damaging Het
Iqub T C 6: 24,505,737 (GRCm39) E57G possibly damaging Het
Kcnk3 T A 5: 30,779,397 (GRCm39) M149K possibly damaging Het
Kcp C T 6: 29,505,719 (GRCm39) G51D probably benign Het
Kif26a C A 12: 112,113,263 (GRCm39) A53D probably damaging Het
Lifr T A 15: 7,202,418 (GRCm39) I353K probably benign Het
Llph A T 10: 120,067,189 (GRCm39) N102I probably damaging Het
Lmo3 C A 6: 138,393,566 (GRCm39) R18L possibly damaging Het
Lrrc46 T C 11: 96,926,371 (GRCm39) E175G probably benign Het
Ltk A T 2: 119,585,075 (GRCm39) C128* probably null Het
Map1b T C 13: 99,571,275 (GRCm39) E482G probably damaging Het
Mapk8ip2 T C 15: 89,344,655 (GRCm39) V740A probably damaging Het
Miga2 T C 2: 30,261,175 (GRCm39) W157R probably benign Het
Mlip A G 9: 77,009,675 (GRCm39) *837Q probably null Het
Mroh2a G T 1: 88,182,657 (GRCm39) R1195L possibly damaging Het
Myl1 T C 1: 66,984,217 (GRCm39) probably benign Het
Or1l4 T C 2: 37,092,189 (GRCm39) L312P possibly damaging Het
Or2a5 T C 6: 42,873,750 (GRCm39) Y122H probably benign Het
Or51ab3 A G 7: 103,201,075 (GRCm39) I28V probably benign Het
P3h3 A T 6: 124,834,331 (GRCm39) V107D probably benign Het
Papolb A T 5: 142,514,651 (GRCm39) S331T possibly damaging Het
Pars2 T G 4: 106,511,700 (GRCm39) V494G probably benign Het
Pcdhb3 C A 18: 37,434,763 (GRCm39) T243K probably benign Het
Pde9a T A 17: 31,689,698 (GRCm39) M415K probably damaging Het
Ppp1r9b G A 11: 94,882,974 (GRCm39) A201T probably benign Het
Prl A G 13: 27,248,942 (GRCm39) N197S possibly damaging Het
Prl2c1 T A 13: 28,035,724 (GRCm39) M32K probably benign Het
Prrt4 T C 6: 29,170,737 (GRCm39) S572G possibly damaging Het
Psd T A 19: 46,310,858 (GRCm39) D397V probably damaging Het
Psme2b A T 11: 48,836,307 (GRCm39) Y213* probably null Het
Ptcd3 T A 6: 71,874,094 (GRCm39) probably null Het
Ptprk T G 10: 28,210,480 (GRCm39) F167L probably damaging Het
Rfx7 T C 9: 72,524,226 (GRCm39) V472A probably damaging Het
Sanbr A G 11: 23,575,100 (GRCm39) L58P probably damaging Het
Scnn1g T C 7: 121,339,576 (GRCm39) L125S probably damaging Het
Sec16a T C 2: 26,320,124 (GRCm39) Y1438C probably damaging Het
Serinc3 C T 2: 163,476,366 (GRCm39) S155N probably benign Het
Slc3a2 A T 19: 8,690,996 (GRCm39) V78E probably damaging Het
Slc44a4 T A 17: 35,140,044 (GRCm39) L23Q probably damaging Het
Slco5a1 C T 1: 12,951,420 (GRCm39) probably benign Het
Slit1 A G 19: 41,605,154 (GRCm39) M899T probably benign Het
Sorl1 A G 9: 41,933,688 (GRCm39) I1094T probably benign Het
Spag9 T A 11: 93,972,196 (GRCm39) L258Q probably benign Het
Strip1 T C 3: 107,526,252 (GRCm39) E488G possibly damaging Het
Stx18 G A 5: 38,262,235 (GRCm39) D30N possibly damaging Het
Sync T C 4: 129,181,583 (GRCm39) probably null Het
Syncrip A G 9: 88,358,849 (GRCm39) V220A probably damaging Het
Tagln2 T C 1: 172,333,476 (GRCm39) I110T probably benign Het
Taok1 T C 11: 77,432,627 (GRCm39) T729A probably benign Het
Tgfbrap1 C T 1: 43,106,759 (GRCm39) V75I possibly damaging Het
Tnfrsf21 A G 17: 43,327,957 (GRCm39) T24A probably benign Het
Tnxb T A 17: 34,932,131 (GRCm39) D2221E probably damaging Het
Triml1 A G 8: 43,583,603 (GRCm39) S333P probably damaging Het
Trp53bp1 C A 2: 121,029,594 (GRCm39) R1862L probably damaging Het
Tsc22d1 T G 14: 76,655,732 (GRCm39) I737S possibly damaging Het
U2af2 A T 7: 5,082,273 (GRCm39) K462N possibly damaging Het
Ubap2 A C 4: 41,233,631 (GRCm39) N86K probably damaging Het
Uso1 A G 5: 92,343,207 (GRCm39) K764E probably benign Het
Vmn1r192 T A 13: 22,372,122 (GRCm39) M33L 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
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'- GAAGGAGTTTCTTCAGCTGCTG -3'
(R):5'- CGAAGACTGTTAAGGAACCACATG -3'

Sequencing Primer
(F):5'- CAGTGTGCCTTGGCTAA -3'
(R):5'- CTGTAAATACCAGCCAGAATGATG -3'
Posted On 2018-09-12