Mutagenetix > Incidental Mutation

Incidental Mutation 'R5343:Ahctf1'

422424

Institutional Source

Beutler Lab

Gene Symbol

Ahctf1

Ensembl Gene

ENSMUSG00000026491

Gene Name

AT hook containing transcription factor 1

Synonyms

Elys, 6230412P20Rik

MMRRC Submission

042922-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5343 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

179572459-179631245 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 179598199 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 964 (Y964*)

Ref Sequence

ENSEMBL: ENSMUSP00000027768 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027768] [ENSMUST00000127250] [ENSMUST00000145968]

AlphaFold

Q8CJF7

PDB Structure

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

Predicted Effect

probably null
Transcript: ENSMUST00000027768
AA Change: Y964*

SMART Domains

Protein: ENSMUSP00000027768
Gene: ENSMUSG00000026491
AA Change: Y964*

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: ENSMUST00000127250

Predicted Effect

probably benign
Transcript: ENSMUST00000145968

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.4%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310039H08Rik	C	A	17: 47,083,962 (GRCm39)	A75E	probably damaging	Het
Adck5	G	A	15: 76,479,780 (GRCm39)	R560H	probably damaging	Het
Alg8	T	C	7: 97,036,126 (GRCm39)	I339T	possibly damaging	Het
Alox5	T	C	6: 116,390,468 (GRCm39)	D503G	possibly damaging	Het
Camk4	A	G	18: 33,211,122 (GRCm39)	T76A	probably damaging	Het
Cdh3	T	C	8: 107,279,568 (GRCm39)	V728A	probably benign	Het
Chd4	T	A	6: 125,097,326 (GRCm39)	N1326K	probably damaging	Het
Cnn1	A	T	9: 22,016,706 (GRCm39)	Y48F	probably benign	Het
Dnah6	T	A	6: 73,189,599 (GRCm39)	E16D	probably benign	Het
Ezh2	A	G	6: 47,553,549 (GRCm39)	L56S	probably damaging	Het
F13b	T	C	1: 139,438,282 (GRCm39)	V299A	possibly damaging	Het
Hydin	T	C	8: 111,212,051 (GRCm39)	S1279P	probably benign	Het
Ift172	T	C	5: 31,421,156 (GRCm39)	M981V	probably benign	Het
Inava	G	T	1: 136,153,180 (GRCm39)	H237Q	probably benign	Het
Lpl	T	A	8: 69,348,389 (GRCm39)	V206E	probably damaging	Het
Mre11a	A	G	9: 14,723,130 (GRCm39)	D368G	probably damaging	Het
Mreg	G	A	1: 72,200,117 (GRCm39)	P191L	probably damaging	Het
Mtif2	G	T	11: 29,486,964 (GRCm39)	A134S	probably damaging	Het
Mxd4	T	C	5: 34,335,074 (GRCm39)	S114G	probably benign	Het
Myo1b	T	C	1: 51,817,696 (GRCm39)	Q522R	probably benign	Het
Ncapd3	GGCTGCTGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTGCTGCTG	9: 26,999,349 (GRCm39)		probably benign	Het
Ninl	T	C	2: 150,813,110 (GRCm39)	E182G	probably benign	Het
Notch3	T	C	17: 32,362,257 (GRCm39)	N1456S	probably benign	Het
Npr1	G	T	3: 90,365,515 (GRCm39)	N648K	possibly damaging	Het
Oas3	A	G	5: 120,894,303 (GRCm39)	S1016P	possibly damaging	Het
Or10a3	C	T	7: 108,480,205 (GRCm39)	V203M	possibly damaging	Het
Or9i14	T	C	19: 13,792,324 (GRCm39)	N210S	probably damaging	Het
Palld	A	G	8: 62,002,849 (GRCm39)		probably benign	Het
Patj	T	G	4: 98,564,430 (GRCm39)	I1021S	probably damaging	Het
Pfpl	T	A	19: 12,406,052 (GRCm39)	L101Q	probably damaging	Het
Pilrb2	T	A	5: 137,869,228 (GRCm39)	E124V	possibly damaging	Het
Pomk	A	G	8: 26,473,044 (GRCm39)	F303S	probably benign	Het
Rap1gap2	A	T	11: 74,332,611 (GRCm39)	S65T	probably damaging	Het
Sema3a	G	A	5: 13,523,373 (GRCm39)	C114Y	probably damaging	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,103,384 (GRCm39)		probably benign	Het
Spry4	A	T	18: 38,723,028 (GRCm39)	V245E	probably damaging	Het
Srrt	T	C	5: 137,295,427 (GRCm39)	Y271C	probably damaging	Het
Tas2r136	A	G	6: 132,755,043 (GRCm39)	V28A	probably benign	Het
Tenm2	A	G	11: 35,960,330 (GRCm39)	V998A	probably benign	Het
Trim37	A	G	11: 87,028,429 (GRCm39)	E46G	probably damaging	Het
Ubiad1	A	G	4: 148,520,892 (GRCm39)	V244A	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
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
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'- AATGCAGATCCTTCAAGTTCAGG -3'
(R):5'- AAGTTTGTCAGGAGATGGGC -3'

Sequencing Primer
(F):5'- GCAGATCCTTCAAGTTCAGGACAATG -3'
(R):5'- TAATGGAGGATTTACTGAAGCTGCC -3'

Posted On

2016-08-04