Incidental Mutation 'R9009:Ahctf1'
ID 685481
Institutional Source Beutler Lab
Gene Symbol Ahctf1
Ensembl Gene ENSMUSG00000026491
Gene Name AT hook containing transcription factor 1
Synonyms Elys, 6230412P20Rik
MMRRC Submission 068839-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9009 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 179572459-179631245 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 179581171 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 1677 (S1677N)
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: S1677N

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000027768
Gene: ENSMUSG00000026491
AA Change: S1677N

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: 99.7%
  • 20x: 99.0%
Validation Efficiency 94% (58/62)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430548M08Rik T A 8: 120,878,279 (GRCm39) probably benign Het
Ank2 T C 3: 126,728,025 (GRCm39) probably benign Het
Arid3c A T 4: 41,729,925 (GRCm39) I90N probably benign Het
Asb1 C A 1: 91,480,205 (GRCm39) D301E unknown Het
Asb1 T G 1: 91,480,206 (GRCm39) *302G probably null Het
Birc2 A T 9: 7,833,937 (GRCm39) F181L probably benign Het
Bnip1 T A 17: 27,001,590 (GRCm39) probably benign Het
Card6 TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG 15: 5,128,173 (GRCm39) probably benign Het
Cd2ap T C 17: 43,116,135 (GRCm39) D575G possibly damaging Het
Cdca7 T A 2: 72,314,273 (GRCm39) H248Q probably damaging Het
Chd2 T C 7: 73,143,192 (GRCm39) D567G probably benign Het
Chd2 T C 7: 73,140,402 (GRCm39) I609V probably benign Het
Cnmd T A 14: 79,894,085 (GRCm39) T101S probably damaging Het
Col6a4 T C 9: 105,954,404 (GRCm39) T312A probably benign Het
Cript C A 17: 87,338,475 (GRCm39) T41N probably damaging Het
Cts6 T C 13: 61,344,261 (GRCm39) I264V probably benign Het
Cyp4a32 C T 4: 115,467,802 (GRCm39) T262I probably null Het
D430041D05Rik T A 2: 104,240,521 (GRCm39) probably benign Het
Dctd C T 8: 48,564,712 (GRCm39) P5S probably benign Het
Det1 T C 7: 78,492,984 (GRCm39) N340S probably benign Het
Dnah7b A G 1: 46,262,232 (GRCm39) N2032D probably benign Het
Dscam T A 16: 96,840,116 (GRCm39) T164S probably benign Het
Emcn T C 3: 137,124,775 (GRCm39) V196A possibly damaging Het
Fbxo32 A G 15: 58,046,358 (GRCm39) I284T possibly damaging Het
Gimap3 C A 6: 48,742,094 (GRCm39) D279Y possibly damaging Het
Gm43302 C T 5: 105,427,974 (GRCm39) D196N probably benign Het
Gpc6 C A 14: 117,424,217 (GRCm39) H102N possibly damaging Het
Gpr158 A T 2: 21,581,760 (GRCm39) D413V probably damaging Het
Ifi207 T C 1: 173,555,382 (GRCm39) R767G probably damaging Het
Kcnip2 T C 19: 45,800,634 (GRCm39) probably benign Het
Kifap3 A C 1: 163,696,291 (GRCm39) D640A probably damaging Het
Lmbrd2 A T 15: 9,157,311 (GRCm39) Q183L possibly damaging Het
Malt1 A G 18: 65,577,911 (GRCm39) I135V probably benign Het
Mfhas1 T C 8: 36,057,109 (GRCm39) V528A probably damaging Het
Mllt10 T C 2: 18,167,163 (GRCm39) S363P probably damaging Het
Mrnip A G 11: 50,073,323 (GRCm39) Y44C probably damaging Het
Mstn C T 1: 53,103,131 (GRCm39) Q156* probably null Het
Mtmr7 T C 8: 41,008,904 (GRCm39) D469G possibly damaging Het
Muc6 A G 7: 141,217,018 (GRCm39) S2552P possibly damaging Het
Myo1f C A 17: 33,823,662 (GRCm39) N1063K probably benign Het
Or52k2 T A 7: 102,253,642 (GRCm39) I27N probably benign Het
Or5af1 A T 11: 58,722,280 (GRCm39) Y100F probably benign Het
Or6z5 G A 7: 6,477,399 (GRCm39) V97M probably benign Het
Orai2 A G 5: 136,179,430 (GRCm39) V201A possibly damaging Het
Pcdhga6 A T 18: 37,841,878 (GRCm39) T533S possibly damaging Het
Pkd1l1 T A 11: 8,881,552 (GRCm39) K907N Het
Plaat5 G T 19: 7,614,823 (GRCm39) M228I probably benign Het
Ppp1r15a A T 7: 45,174,049 (GRCm39) V253E probably benign Het
Ppp1r9b A G 11: 94,887,467 (GRCm39) E493G probably benign Het
Prdm1 T C 10: 44,322,997 (GRCm39) N151S probably benign Het
Prkcd C T 14: 30,329,297 (GRCm39) A163T probably damaging Het
Prl7a2 T A 13: 27,849,994 (GRCm39) E26V probably damaging Het
Ptprm A T 17: 66,996,354 (GRCm39) N1278K probably damaging Het
Ptprz1 T A 6: 23,001,653 (GRCm39) S1248T possibly damaging Het
Scn9a T C 2: 66,338,927 (GRCm39) I1186M probably damaging Het
Sv2a T C 3: 96,094,409 (GRCm39) F248S probably benign Het
Tas2r116 T A 6: 132,832,963 (GRCm39) I188K probably damaging Het
Tcf21 T C 10: 22,693,671 (GRCm39) T169A probably benign Het
Tecrl C A 5: 83,432,121 (GRCm39) C258F probably damaging Het
Tet2 T A 3: 133,193,360 (GRCm39) E358V possibly damaging Het
Thada A T 17: 84,759,203 (GRCm39) S219T possibly damaging Het
Tpgs2 T A 18: 25,301,777 (GRCm39) probably benign Het
Ttc6 A T 12: 57,744,219 (GRCm39) I1284F probably damaging Het
Vmn1r160 T C 7: 22,571,127 (GRCm39) V160A possibly damaging Het
Vmn1r44 T C 6: 89,870,671 (GRCm39) L139P probably 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
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
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'- CATGCTGCCTTCTTGTGAGAG -3'
(R):5'- TGCAGCACCTAATATGTTACCG -3'

Sequencing Primer
(F):5'- TGAGAGTTCTAGAAGAAACCATGTC -3'
(R):5'- GCACCTAATATGTTACCGAAAGCG -3'
Posted On 2021-10-11