Mutagenetix > Incidental Mutation

Incidental Mutation 'R8734:Ahctf1'

662896

Institutional Source

Beutler Lab

Gene Symbol

Ahctf1

Ensembl Gene

ENSMUSG00000026491

Gene Name

AT hook containing transcription factor 1

Synonyms

Elys, 6230412P20Rik

MMRRC Submission

068582-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8734 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

179572459-179631245 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 179608430 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 681 (E681*)

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 null
Transcript: ENSMUST00000027768
AA Change: E681*

SMART Domains

Protein: ENSMUSP00000027768
Gene: ENSMUSG00000026491
AA Change: E681*

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

Meta Mutation Damage Score

0.9718

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (61/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	T	A	19: 43,770,855 (GRCm39)	C5S	probably damaging	Het
Actl6a	G	A	3: 32,774,104 (GRCm39)	D275N	probably benign	Het
Ankub1	G	A	3: 57,599,706 (GRCm39)	S21L	probably benign	Het
Apmap	T	A	2: 150,430,824 (GRCm39)	K178N	probably benign	Het
Arhgap15	T	A	2: 44,133,130 (GRCm39)	N345K	probably damaging	Het
Armc8	A	G	9: 99,402,538 (GRCm39)	V379A	probably benign	Het
Atmin	G	A	8: 117,681,525 (GRCm39)	D175N	possibly damaging	Het
Atp5pd	T	C	11: 115,307,689 (GRCm39)	E94G	possibly damaging	Het
B3gnt3	G	A	8: 72,146,145 (GRCm39)	T128M	probably damaging	Het
Ccdc88c	T	A	12: 100,906,394 (GRCm39)	T1040S	probably damaging	Het
Crot	C	T	5: 9,028,208 (GRCm39)	R247Q	probably benign	Het
Cyp2b9	A	G	7: 25,898,035 (GRCm39)		probably benign	Het
Dcaf8	T	C	1: 172,021,427 (GRCm39)	W540R	probably benign	Het
Galnt11	T	C	5: 25,455,222 (GRCm39)	I186T	possibly damaging	Het
Gne	T	A	4: 44,072,911 (GRCm39)		probably benign	Het
Gpr37	A	T	6: 25,688,201 (GRCm39)	F299I	probably benign	Het
Gpr37l1	C	T	1: 135,095,167 (GRCm39)	A26T	probably benign	Het
Grm4	A	G	17: 27,657,765 (GRCm39)	Y414H	probably damaging	Het
Kcnh1	T	C	1: 192,188,320 (GRCm39)	I954T	possibly damaging	Het
Lias	T	C	5: 65,561,552 (GRCm39)	Y308H	probably damaging	Het
Lrrc27	T	A	7: 138,796,515 (GRCm39)		probably benign	Het
Lrrc8a	C	T	2: 30,146,619 (GRCm39)	H478Y	probably benign	Het
Mdh2	T	A	5: 135,812,983 (GRCm39)		probably benign	Het
Mug1	T	A	6: 121,848,340 (GRCm39)	I688K	probably benign	Het
Nrp1	A	G	8: 129,207,420 (GRCm39)	D605G	probably benign	Het
Nt5dc3	A	G	10: 86,669,863 (GRCm39)	Y486C	possibly damaging	Het
Or5m13	T	A	2: 85,748,993 (GRCm39)	C241*	probably null	Het
Or8s16	A	T	15: 98,210,954 (GRCm39)	L159H	probably damaging	Het
Or9s23	T	A	1: 92,501,121 (GRCm39)	V76D	possibly damaging	Het
Pam	A	T	1: 97,762,127 (GRCm39)		probably benign	Het
Pcolce	A	G	5: 137,609,550 (GRCm39)	L14P	probably damaging	Het
Pcsk6	T	C	7: 65,581,481 (GRCm39)	I254T	probably benign	Het
Pdzrn3	A	T	6: 101,128,567 (GRCm39)	C700S	probably damaging	Het
Pglyrp2	A	G	17: 32,634,976 (GRCm39)	F462S	probably damaging	Het
Plaat3	T	A	19: 7,552,347 (GRCm39)	Y21N	possibly damaging	Het
Plekhm1	A	T	11: 103,285,778 (GRCm39)	L219Q	probably damaging	Het
Prkch	T	A	12: 73,632,018 (GRCm39)	S28T	possibly damaging	Het
Prrc2c	A	T	1: 162,507,081 (GRCm39)	S2529R	possibly damaging	Het
Prss3	G	T	6: 41,350,827 (GRCm39)	A221D	probably damaging	Het
Rbm33	T	A	5: 28,557,874 (GRCm39)		probably benign	Het
Retreg1	T	C	15: 25,968,493 (GRCm39)	L83S	probably damaging	Het
Robo2	C	T	16: 73,764,651 (GRCm39)		probably benign	Het
Slc25a47	T	A	12: 108,820,247 (GRCm39)	F84I	probably benign	Het
Sntb2	A	G	8: 107,728,320 (GRCm39)	I423V	probably benign	Het
Spart	A	T	3: 55,032,300 (GRCm39)	D378V	possibly damaging	Het
Spint2	A	T	7: 28,958,835 (GRCm39)	F127Y	probably damaging	Het
Stag3	A	G	5: 138,310,050 (GRCm39)	T1233A	probably benign	Het
Tenm3	A	G	8: 48,802,391 (GRCm39)	I390T	probably benign	Het
Tigd2	A	G	6: 59,187,184 (GRCm39)	D17G	probably damaging	Het
Tln2	C	A	9: 67,179,936 (GRCm39)	A812S	probably benign	Het
Tmem234	A	G	4: 129,501,317 (GRCm39)	T133A	probably benign	Het
Trnp1	A	G	4: 133,225,380 (GRCm39)	F130S	possibly damaging	Het
Tsr1	A	G	11: 74,794,652 (GRCm39)	S436G	probably benign	Het
Ttn	T	C	2: 76,541,032 (GRCm39)	I33985V	probably benign	Het
Usp34	A	C	11: 23,394,184 (GRCm39)	D2278A		Het
Vav3	T	A	3: 109,565,285 (GRCm39)	F727Y	probably benign	Het
Vcl	T	C	14: 21,060,236 (GRCm39)		probably null	Het
Vps13c	T	A	9: 67,880,685 (GRCm39)	D3507E	probably damaging	Het
Vtn	A	G	11: 78,391,090 (GRCm39)		probably benign	Het
Zfp319	A	G	8: 96,054,938 (GRCm39)	S422P	possibly damaging	Het

Other mutations in Ahctf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- CCACAGTTTCATGATCTAAGTTATAGG -3'
(R):5'- GCTTAACCTCACTTTGGTTCAGTG -3'

Sequencing Primer
(F):5'- GGTAGTGACATTTTTAGAAGCCATG -3'
(R):5'- AACCTCACTTTGGTTCAGTGTATAC -3'

Posted On

2021-03-08