Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02895:Ahctf1'

363377

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ahctf1

Ensembl Gene

ENSMUSG00000026491

Gene Name

AT hook containing transcription factor 1

Synonyms

6230412P20Rik, Elys

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02895

Quality Score

Status

Chromosome

Chromosomal Location

179744894-179803680 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 179793811 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 130 (E130K)

Ref Sequence

ENSEMBL: ENSMUSP00000027768 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027768]

PDB Structure

Nucleoporin ELYS (aa1-494), Mus musculus [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000027768
AA Change: E130K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000027768
Gene: ENSMUSG00000026491
AA Change: E130K

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

noncoding transcript
Transcript: ENSMUST00000192645

Coding Region Coverage

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	A	G	15: 8,232,107		probably benign	Het
Atf7ip	C	A	6: 136,560,688	S306R	probably damaging	Het
Cpd	A	G	11: 76,785,203	V1208A	probably benign	Het
Ctsl	C	T	13: 64,366,512	A195T	probably damaging	Het
Dennd2c	T	C	3: 103,137,203	Y367H	possibly damaging	Het
Endod1	T	A	9: 14,356,870	T440S	probably benign	Het
Gm12695	T	C	4: 96,723,949	R526G	probably damaging	Het
Ighv1-39	T	C	12: 114,914,682	T90A	probably damaging	Het
Kdm2a	G	A	19: 4,362,902	R19C	probably damaging	Het
Klra1	C	T	6: 130,375,240	E180K	possibly damaging	Het
Odam	A	G	5: 87,885,864	Q21R	probably benign	Het
Olfr1205	A	G	2: 88,831,642	Y175C	probably damaging	Het
Olfr145	G	A	9: 37,897,982	V193I	probably benign	Het
Plk1	A	G	7: 122,169,166	E504G	possibly damaging	Het
Rtl3	T	C	X: 106,839,544	I37M	possibly damaging	Het
Srebf2	A	G	15: 82,147,467	E22G	possibly damaging	Het
Tmem74b	A	G	2: 151,706,391	S13G	probably benign	Het
Utp14b	T	C	1: 78,664,607	V74A	possibly damaging	Het
Znrf3	T	C	11: 5,289,085	M93V	probably damaging	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
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
R0024:Ahctf1	UTSW	1	179752436	missense	probably damaging	0.98
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	intron	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
R7929:Ahctf1	UTSW	1	179787073	missense	probably damaging	0.99
R7993:Ahctf1	UTSW	1	179753091	missense	probably benign	0.00
X0067:Ahctf1	UTSW	1	179777704	missense	probably damaging	0.99
Z1177:Ahctf1	UTSW	1	179793730	missense	probably damaging	1.00

Posted On

2015-12-18