Mutagenetix > Incidental Mutation

Incidental Mutation 'R0024:Ahctf1'

18698

Institutional Source

Beutler Lab

Gene Symbol

Ahctf1

Ensembl Gene

ENSMUSG00000026491

Gene Name

AT hook containing transcription factor 1

Synonyms

6230412P20Rik, Elys

MMRRC Submission

038319-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0024 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

179744894-179803680 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 179752436 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 2067 (T2067M)

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 damaging
Transcript: ENSMUST00000027768
AA Change: T2067M

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000027768
Gene: ENSMUSG00000026491
AA Change: T2067M

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
low complexity region	21	33	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151734

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 79.2%
3x: 69.7%
10x: 44.0%
20x: 23.5%

Validation Efficiency

95% (75/79)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre5	T	C	8: 83,728,284	T260A	probably damaging	Het
Akip1	T	C	7: 109,704,138	S63P	probably benign	Het
Ankrd34c	G	A	9: 89,729,527	P254S	possibly damaging	Het
Aqp8	T	C	7: 123,467,440	I256T	probably benign	Het
Arnt2	A	G	7: 84,284,126	V308A	probably benign	Het
Astn1	G	A	1: 158,684,215	S1209N	probably damaging	Het
Atf7ip	T	C	6: 136,599,820		probably benign	Het
Bbx	T	A	16: 50,224,918	M427L	probably benign	Het
Cadm4	T	C	7: 24,502,744	L336P	probably benign	Het
Camk2d	A	G	3: 126,797,723	M281V	probably benign	Het
Dll3	A	G	7: 28,300,161		probably benign	Het
Dscam	G	A	16: 96,593,385	R1906*	probably null	Het
Dst	C	T	1: 34,189,119	P1606L	probably damaging	Het
Eif2ak3	A	G	6: 70,892,356	T676A	probably benign	Het
Entpd5	T	C	12: 84,373,733	M428T	probably benign	Het
Fry	T	G	5: 150,380,803	S553A	probably benign	Het
Gls2	G	A	10: 128,199,256	R86H	probably damaging	Het
Gm14340	T	A	2: 180,824,250		noncoding transcript	Het
Gm9457	A	C	8: 4,813,131		noncoding transcript	Het
Hfm1	T	C	5: 106,856,924	K1179E	probably benign	Het
Iqgap1	T	C	7: 80,751,939	T473A	probably benign	Het
Krt34	A	T	11: 100,041,037	C119S	probably benign	Het
Krt6a	A	G	15: 101,690,715		probably benign	Het
Lysmd4	A	G	7: 67,226,080	T164A	probably benign	Het
Mroh2b	T	A	15: 4,925,627	Y701N	probably damaging	Het
Pi4ka	T	C	16: 17,315,535		probably benign	Het
Plcb1	A	G	2: 135,362,425	S900G	probably benign	Het
Plxna2	T	A	1: 194,643,995	I79N	possibly damaging	Het
Prpf31	C	A	7: 3,636,659		probably null	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rsc1a1	T	C	4: 141,685,272	K110E	probably benign	Het
Sin3a	T	A	9: 57,118,253		probably benign	Het
Slc24a2	T	C	4: 87,028,240		probably benign	Het
Slc6a3	A	T	13: 73,540,837		probably benign	Het
St5	T	C	7: 109,524,659	H1131R	probably damaging	Het
Sugct	G	A	13: 16,857,869	H433Y	probably benign	Het
Sycp2l	A	G	13: 41,141,788	I310M	probably damaging	Het
Tpm3	C	A	3: 90,087,449		probably null	Het
Ttc27	T	C	17: 74,770,264	F385L	possibly damaging	Het
Utrn	A	G	10: 12,406,011	V3301A	probably benign	Het

Other mutations in Ahctf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00757:Ahctf1	APN	1	179769131	missense	probably damaging	1.00
IGL01714:Ahctf1	APN	1	179795877	missense	probably damaging	0.99
IGL01787:Ahctf1	APN	1	179753322	missense	probably benign
IGL01997:Ahctf1	APN	1	179755462	missense	probably damaging	0.99
IGL02035:Ahctf1	APN	1	179766014	missense	probably benign	0.00
IGL02158:Ahctf1	APN	1	179779652	missense	possibly damaging	0.64
IGL02182:Ahctf1	APN	1	179753078	missense	probably benign	0.00
IGL02298:Ahctf1	APN	1	179752479	missense	probably benign	0.00
IGL02325:Ahctf1	APN	1	179776015	missense	probably benign	0.14
IGL02619:Ahctf1	APN	1	179792451	missense	possibly damaging	0.90
IGL02858:Ahctf1	APN	1	179769034	missense	probably damaging	0.96
IGL02893:Ahctf1	APN	1	179776011	nonsense	probably null
IGL02895:Ahctf1	APN	1	179793811	missense	probably damaging	1.00
IGL03180:Ahctf1	APN	1	179775330	critical splice donor site	probably null
IGL03220:Ahctf1	APN	1	179788202	missense	probably benign	0.01
cerebro	UTSW	1	179769414	missense	probably damaging	0.99
R0003:Ahctf1	UTSW	1	179763473	missense	probably benign	0.04
R0030:Ahctf1	UTSW	1	179752436	missense	probably damaging	0.98
R0432:Ahctf1	UTSW	1	179784161	missense	probably damaging	0.98
R0481:Ahctf1	UTSW	1	179760271	missense	probably benign	0.00
R0600:Ahctf1	UTSW	1	179763468	critical splice donor site	probably null
R0613:Ahctf1	UTSW	1	179769414	missense	probably damaging	0.99
R0814:Ahctf1	UTSW	1	179762908	missense	probably benign	0.26
R1055:Ahctf1	UTSW	1	179763486	missense	possibly damaging	0.46
R1473:Ahctf1	UTSW	1	179776108	missense	probably benign	0.30
R1473:Ahctf1	UTSW	1	179799279	missense	probably damaging	0.99
R1689:Ahctf1	UTSW	1	179768383	missense	probably damaging	0.96
R1778:Ahctf1	UTSW	1	179753015	missense	possibly damaging	0.57
R1878:Ahctf1	UTSW	1	179775509	missense	possibly damaging	0.96
R1925:Ahctf1	UTSW	1	179770653	missense	probably damaging	0.98
R2118:Ahctf1	UTSW	1	179769452	missense	probably damaging	1.00
R2122:Ahctf1	UTSW	1	179769452	missense	probably damaging	1.00
R2124:Ahctf1	UTSW	1	179769452	missense	probably damaging	1.00
R2373:Ahctf1	UTSW	1	179795796	missense	probably damaging	1.00
R2509:Ahctf1	UTSW	1	179770693	missense	possibly damaging	0.51
R2697:Ahctf1	UTSW	1	179752532	missense	probably damaging	0.99
R3035:Ahctf1	UTSW	1	179753870	missense	probably damaging	1.00
R3155:Ahctf1	UTSW	1	179755583	missense	probably damaging	0.98
R3899:Ahctf1	UTSW	1	179777780	missense	possibly damaging	0.95
R4036:Ahctf1	UTSW	1	179762616	missense	possibly damaging	0.61
R4681:Ahctf1	UTSW	1	179752796	missense	probably benign	0.27
R4695:Ahctf1	UTSW	1	179753054	missense	possibly damaging	0.78
R4735:Ahctf1	UTSW	1	179753399	missense	probably benign	0.00
R4857:Ahctf1	UTSW	1	179799357	unclassified	probably benign
R4898:Ahctf1	UTSW	1	179755512	missense	probably benign	0.02
R4905:Ahctf1	UTSW	1	179748627	missense	probably damaging	1.00
R5011:Ahctf1	UTSW	1	179784110	missense	possibly damaging	0.92
R5013:Ahctf1	UTSW	1	179784110	missense	possibly damaging	0.92
R5053:Ahctf1	UTSW	1	179786784	missense	possibly damaging	0.82
R5207:Ahctf1	UTSW	1	179793594	intron	probably benign
R5319:Ahctf1	UTSW	1	179769050	missense	probably damaging	1.00
R5343:Ahctf1	UTSW	1	179770634	nonsense	probably null
R5546:Ahctf1	UTSW	1	179754068	missense	probably benign	0.01
R5718:Ahctf1	UTSW	1	179769339	missense	possibly damaging	0.54
R5862:Ahctf1	UTSW	1	179788330	missense	probably damaging	1.00
R5958:Ahctf1	UTSW	1	179746542	unclassified	probably benign
R6010:Ahctf1	UTSW	1	179795813	missense	possibly damaging	0.80
R6081:Ahctf1	UTSW	1	179781672	missense	probably benign	0.07
R6093:Ahctf1	UTSW	1	179762952	missense	probably benign	0.01
R6207:Ahctf1	UTSW	1	179777390	splice site	probably null
R6268:Ahctf1	UTSW	1	179763483	missense	probably benign	0.08
R6656:Ahctf1	UTSW	1	179753513	missense	probably benign	0.05
R6668:Ahctf1	UTSW	1	179752407	missense	probably benign	0.04
R6788:Ahctf1	UTSW	1	179752634	missense	probably benign	0.00
R6860:Ahctf1	UTSW	1	179753288	missense	probably benign	0.04
R6998:Ahctf1	UTSW	1	179770915	nonsense	probably null
R7082:Ahctf1	UTSW	1	179775333	missense	probably benign	0.15
R7385:Ahctf1	UTSW	1	179753381	missense	possibly damaging	0.66
R7414:Ahctf1	UTSW	1	179784105	missense	probably benign	0.00
R7663:Ahctf1	UTSW	1	179790314	missense	possibly damaging	0.66
R7673:Ahctf1	UTSW	1	179762846	missense	probably benign	0.02
R7715:Ahctf1	UTSW	1	179770848	missense	probably benign	0.00
R7819:Ahctf1	UTSW	1	179768315	missense	probably benign
R7846:Ahctf1	UTSW	1	179787073	missense	probably damaging	0.99
R7912:Ahctf1	UTSW	1	179753091	missense	probably benign	0.00
R7942:Ahctf1	UTSW	1	179786095	missense	possibly damaging	0.66
R8282:Ahctf1	UTSW	1	179777806	missense	possibly damaging	0.68
R8376:Ahctf1	UTSW	1	179782955	missense	probably damaging	0.99
R8439:Ahctf1	UTSW	1	179762610	missense	possibly damaging	0.89
R8482:Ahctf1	UTSW	1	179763542	unclassified	probably benign
R8683:Ahctf1	UTSW	1	179795756	missense	possibly damaging	0.70
R8734:Ahctf1	UTSW	1	179780865	nonsense	probably null
R8855:Ahctf1	UTSW	1	179786776	missense	probably damaging	0.99
R8928:Ahctf1	UTSW	1	179769061	missense	possibly damaging	0.49
R9009:Ahctf1	UTSW	1	179753606	missense	probably benign	0.11
R9106:Ahctf1	UTSW	1	179787036	missense	probably benign	0.04
R9228:Ahctf1	UTSW	1	179784120	missense	probably benign	0.28
R9408:Ahctf1	UTSW	1	179776073	missense	possibly damaging	0.46
R9800:Ahctf1	UTSW	1	179753868	missense	possibly damaging	0.77
X0067:Ahctf1	UTSW	1	179777704	missense	probably damaging	0.99
Z1177:Ahctf1	UTSW	1	179793730	missense	probably damaging	1.00

Posted On

2013-03-25