Incidental Mutation 'R9228:Ahctf1'
ID 699976
Institutional Source Beutler Lab
Gene Symbol Ahctf1
Ensembl Gene ENSMUSG00000026491
Gene Name AT hook containing transcription factor 1
Synonyms Elys, 6230412P20Rik
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9228 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 179572459-179631245 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 179611685 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 562 (T562A)
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 benign
Transcript: ENSMUST00000027768
AA Change: T562A

PolyPhen 2 Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000027768
Gene: ENSMUSG00000026491
AA Change: T562A

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: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (87/87)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810037I17Rik G A 3: 122,718,274 (GRCm39) A56T probably benign Het
4930438A08Rik A T 11: 58,178,296 (GRCm39) I119F Het
Abca12 A T 1: 71,332,599 (GRCm39) I1254N probably damaging Het
Abcb11 G T 2: 69,138,809 (GRCm39) Y157* probably null Het
Adcy7 G A 8: 89,044,675 (GRCm39) probably null Het
Adnp A G 2: 168,026,798 (GRCm39) Y166H probably damaging Het
Adprhl1 A G 8: 13,275,279 (GRCm39) V493A probably benign Het
Amotl1 T A 9: 14,504,320 (GRCm39) N296I possibly damaging Het
Ankar A G 1: 72,713,210 (GRCm39) V693A probably benign Het
Ankrd16 T C 2: 11,786,318 (GRCm39) V189A probably benign Het
Bmp1 A G 14: 70,757,338 (GRCm39) L47P probably benign Het
Cacna2d4 A G 6: 119,248,476 (GRCm39) D429G probably benign Het
Cadps2 T A 6: 23,688,927 (GRCm39) E127D probably benign Het
Cd109 A T 9: 78,577,042 (GRCm39) I580F possibly damaging Het
Cdrt4 T A 11: 62,842,124 (GRCm39) I2N unknown Het
Cep250 C T 2: 155,812,042 (GRCm39) A446V unknown Het
Chuk A T 19: 44,095,789 (GRCm39) W15R probably damaging Het
Cpvl C T 6: 53,951,779 (GRCm39) M1I probably null Het
Cyfip1 A G 7: 55,549,758 (GRCm39) M642V probably damaging Het
Dhh T A 15: 98,795,757 (GRCm39) R133* probably null Het
Dnmt3b G A 2: 153,507,980 (GRCm39) V212M probably benign Het
Dync2li1 A G 17: 84,957,137 (GRCm39) S301G probably benign Het
Epas1 A C 17: 87,133,990 (GRCm39) I500L possibly damaging Het
Ephb4 A T 5: 137,352,824 (GRCm39) I136F possibly damaging Het
Foxg1 T C 12: 49,431,320 (GRCm39) F18L unknown Het
Frem1 T C 4: 82,920,057 (GRCm39) E432G probably damaging Het
Gpld1 A T 13: 25,136,900 (GRCm39) S73C probably damaging Het
Hddc3 A G 7: 79,993,328 (GRCm39) I52V probably benign Het
Hmgcll1 A T 9: 75,991,732 (GRCm39) T252S probably damaging Het
Igsf10 G A 3: 59,243,843 (GRCm39) R164W probably damaging Het
Jph2 A G 2: 163,180,606 (GRCm39) V675A probably benign Het
Kifap3 T C 1: 163,689,666 (GRCm39) F550S probably benign Het
Klk15 C T 7: 43,587,790 (GRCm39) H73Y possibly damaging Het
Kplce C T 3: 92,775,951 (GRCm39) G244D probably benign Het
L1td1 T C 4: 98,625,932 (GRCm39) V643A possibly damaging Het
L3mbtl3 C T 10: 26,212,155 (GRCm39) M255I unknown Het
Layn T A 9: 50,968,837 (GRCm39) D302V probably damaging Het
Lpcat4 A G 2: 112,072,418 (GRCm39) I136V possibly damaging Het
Lrp1 T A 10: 127,382,807 (GRCm39) D3658V probably damaging Het
Metap1d T C 2: 71,352,900 (GRCm39) L243S possibly damaging Het
Midn T A 10: 79,990,275 (GRCm39) H315Q probably damaging Het
Mtrex A T 13: 113,050,888 (GRCm39) probably null Het
Myb C T 10: 21,030,612 (GRCm39) D62N probably benign Het
Myh2 T C 11: 67,077,522 (GRCm39) S886P probably benign Het
Nemf T C 12: 69,388,093 (GRCm39) I396V probably damaging Het
Nemp1 T G 10: 127,525,227 (GRCm39) V127G possibly damaging Het
Nkx3-1 C T 14: 69,428,227 (GRCm39) T25M possibly damaging Het
Nmral1 A C 16: 4,531,631 (GRCm39) L208R probably damaging Het
Nol6 A T 4: 41,116,422 (GRCm39) I989N probably benign Het
Or12e7 T A 2: 87,287,907 (GRCm39) C133S possibly damaging Het
Palld A T 8: 62,173,571 (GRCm39) S363T probably damaging Het
Pcdha11 A G 18: 37,144,512 (GRCm39) D201G probably damaging Het
Per2 A G 1: 91,366,081 (GRCm39) C339R probably damaging Het
Phactr4 T C 4: 132,097,874 (GRCm39) T455A possibly damaging Het
Phc2 T C 4: 128,617,062 (GRCm39) I445T probably damaging Het
Pmepa1 T C 2: 173,117,962 (GRCm39) T6A probably benign Het
Polr1a T C 6: 71,931,755 (GRCm39) F945L probably damaging Het
Ppp2r5e T A 12: 75,640,063 (GRCm39) K13* probably null Het
Ptafr T C 4: 132,306,613 (GRCm39) M1T probably null Het
Rbms1 G A 2: 60,610,087 (GRCm39) P208S probably benign Het
Scg3 T A 9: 75,558,955 (GRCm39) I419F probably damaging Het
Scn1a T C 2: 66,130,099 (GRCm39) T219A probably benign Het
Sec14l4 A G 11: 3,989,977 (GRCm39) D92G probably damaging Het
Senp3 G T 11: 69,569,085 (GRCm39) Q359K probably damaging Het
Sirt1 T C 10: 63,172,857 (GRCm39) D142G probably damaging Het
Skint2 T C 4: 112,483,039 (GRCm39) M148T possibly damaging Het
Slc30a10 T A 1: 185,187,391 (GRCm39) M44K probably damaging Het
Snai2 T A 16: 14,524,792 (GRCm39) D99E probably damaging Het
Spg7 A G 8: 123,807,408 (GRCm39) K395E possibly damaging Het
Sphk2 G A 7: 45,360,337 (GRCm39) H556Y possibly damaging Het
Supt6 A C 11: 78,116,612 (GRCm39) F637L probably benign Het
Tcam1 A G 11: 106,177,292 (GRCm39) N428S probably damaging Het
Tctn3 C T 19: 40,596,692 (GRCm39) R276K probably benign Het
Timm29 G A 9: 21,504,656 (GRCm39) R108H probably damaging Het
Tlr9 A T 9: 106,102,752 (GRCm39) E681V possibly damaging Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Tns3 T C 11: 8,400,094 (GRCm39) K1169E probably damaging Het
Trim72 A C 7: 127,608,315 (GRCm39) D271A possibly damaging Het
Trpv4 A T 5: 114,772,622 (GRCm39) D369E probably benign Het
Ttn A G 2: 76,583,192 (GRCm39) L22567P probably damaging Het
Uimc1 G A 13: 55,223,652 (GRCm39) P207S probably damaging Het
Unc5d A T 8: 29,165,448 (GRCm39) V781E probably damaging Het
Upk3bl C T 5: 136,086,076 (GRCm39) P4L unknown Het
Vmn1r201 A G 13: 22,659,670 (GRCm39) N295D probably benign Het
Vmn2r69 A G 7: 85,064,697 (GRCm39) I63T probably benign Het
Zfyve28 T C 5: 34,374,788 (GRCm39) T409A 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
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
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'- TGGTACAGAGCATCACAGATTCAC -3'
(R):5'- GTTGTCTCTCTGGCTACAGC -3'

Sequencing Primer
(F):5'- CAGAGCATCACAGATTCACTTTTTAC -3'
(R):5'- CTGCCTCTGATTTCAGAG -3'
Posted On 2022-02-07