Mutagenetix > Incidental Mutation

Incidental Mutation 'R6656:Ahctf1'

526609

Institutional Source

Beutler Lab

Gene Symbol

Ahctf1

Ensembl Gene

ENSMUSG00000026491

Gene Name

AT hook containing transcription factor 1

Synonyms

Elys, 6230412P20Rik

MMRRC Submission

044777-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6656 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

179572459-179631245 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 179581078 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 1708 (N1708S)

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: N1708S

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000027768
Gene: ENSMUSG00000026491
AA Change: N1708S

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.8%

Validation Efficiency

97% (35/36)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak2	C	T	12: 112,748,991 (GRCm39)	M285I	probably benign	Het
Angptl1	A	T	1: 156,684,806 (GRCm39)	D325V	probably damaging	Het
Anln	A	T	9: 22,262,298 (GRCm39)	V931E	probably damaging	Het
Ascc3	C	T	10: 50,526,021 (GRCm39)	R578*	probably null	Het
B3galnt2	C	T	13: 14,150,161 (GRCm39)	A168V	probably benign	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
Cd22	T	C	7: 30,577,182 (GRCm39)	I42V	probably benign	Het
Cyp2b19	C	T	7: 26,466,280 (GRCm39)	T361I	probably benign	Het
D930048N14Rik	C	A	11: 51,544,576 (GRCm39)		probably benign	Het
Ehf	T	C	2: 103,113,928 (GRCm39)	N23S	probably damaging	Het
Eif2ak3	T	A	6: 70,860,699 (GRCm39)	I425N	probably damaging	Het
Fbxo4	C	T	15: 4,005,305 (GRCm39)	V192M	probably damaging	Het
Gm21190	T	C	5: 15,730,849 (GRCm39)	Q169R	possibly damaging	Het
Gngt1	A	G	6: 3,994,246 (GRCm39)	D8G	possibly damaging	Het
Ift140	T	C	17: 25,251,147 (GRCm39)	L31P	probably damaging	Het
Keg1	C	T	19: 12,686,994 (GRCm39)	Q8*	probably null	Het
Lama3	T	A	18: 12,682,283 (GRCm39)	M1083K	possibly damaging	Het
Lrp1b	A	T	2: 40,527,876 (GRCm39)	Y68*	probably null	Het
Lyz3	A	G	10: 117,071,534 (GRCm39)	V115A	probably benign	Het
Mctp1	A	T	13: 77,178,055 (GRCm39)	K947N	probably damaging	Het
Muc5ac	A	G	7: 141,357,065 (GRCm39)	Y1113C	probably damaging	Het
Myb	C	T	10: 21,028,844 (GRCm39)	V85M	probably damaging	Het
Npas2	T	G	1: 39,401,029 (GRCm39)	S798A	unknown	Het
Or13a21	G	T	7: 139,999,517 (GRCm39)	H56Q	probably damaging	Het
Orc2	A	G	1: 58,532,818 (GRCm39)		probably null	Het
Parpbp	T	C	10: 87,946,175 (GRCm39)	T415A	probably benign	Het
Pcdha3	T	C	18: 37,080,875 (GRCm39)	V539A	probably benign	Het
Piwil4	T	C	9: 14,621,230 (GRCm39)	E601G	probably damaging	Het
Pramel51	A	T	12: 88,142,763 (GRCm39)	L285Q	possibly damaging	Het
Ptpn3	T	A	4: 57,205,905 (GRCm39)	I696F	probably damaging	Het
Sec63	C	T	10: 42,692,379 (GRCm39)	Q617*	probably null	Het
Sgip1	C	A	4: 102,762,765 (GRCm39)		probably benign	Het
Sirpd	T	C	3: 15,385,558 (GRCm39)	T115A	probably damaging	Het
Tktl2	T	C	8: 66,965,381 (GRCm39)	V313A	probably benign	Het
Tmem63b	C	A	17: 45,978,634 (GRCm39)	R325L	probably benign	Het
Ttn	C	T	2: 76,539,700 (GRCm39)	G34429R	probably 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
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
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'- AGTTGGTTCTCAGGTGCTAC -3'
(R):5'- TTACCGTATGTGCCTGAACC -3'

Sequencing Primer
(F):5'- GCTACTTTTAGGTCAGAACAGGTCC -3'
(R):5'- CGTATGTGCCTGAACCGGTTAAAG -3'

Posted On

2018-07-23