Mutagenetix > Incidental Mutation

Incidental Mutation 'R1055:Ahctf1'

94244

Institutional Source

Beutler Lab

Gene Symbol

Ahctf1

Ensembl Gene

ENSMUSG00000026491

Gene Name

AT hook containing transcription factor 1

Synonyms

Elys, 6230412P20Rik

MMRRC Submission

039145-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1055 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

179572459-179631245 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 179591051 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 1243 (T1243I)

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

possibly damaging
Transcript: ENSMUST00000027768
AA Change: T1243I

PolyPhen 2 Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000027768
Gene: ENSMUSG00000026491
AA Change: T1243I

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.4%
3x: 98.3%
10x: 95.3%
20x: 87.5%

Validation Efficiency

100% (58/58)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	A	G	14: 64,210,724 (GRCm39)	V168A	possibly damaging	Het
A1cf	C	A	19: 31,909,919 (GRCm39)	T237N	probably benign	Het
Actl10	A	T	2: 154,394,588 (GRCm39)	Q180L	probably benign	Het
Adcy1	T	C	11: 7,059,075 (GRCm39)	L327P	probably damaging	Het
Adcy7	T	C	8: 89,044,685 (GRCm39)		probably benign	Het
Akap6	C	T	12: 52,927,455 (GRCm39)	Q122*	probably null	Het
Apob	G	A	12: 8,044,963 (GRCm39)	G861D	probably damaging	Het
Arhgef11	A	C	3: 87,624,425 (GRCm39)	T539P	probably benign	Het
Cd244a	T	A	1: 171,404,844 (GRCm39)	V232E	probably damaging	Het
Chia1	A	C	3: 106,038,199 (GRCm39)	D365A	probably damaging	Het
Clpsl2	C	T	17: 28,768,500 (GRCm39)	Q5*	probably null	Het
Clrn1	T	A	3: 58,772,531 (GRCm39)	I117F	probably benign	Het
Csmd3	A	G	15: 47,744,933 (GRCm39)	L1354P	probably damaging	Het
Csn2	G	A	5: 87,842,596 (GRCm39)	P144S	possibly damaging	Het
Dcdc2a	T	A	13: 25,286,593 (GRCm39)	M172K	probably damaging	Het
Dnah9	A	T	11: 66,050,837 (GRCm39)	W152R	probably damaging	Het
Dnmt3a	T	A	12: 3,922,864 (GRCm39)	S82T	probably benign	Het
Ebf1	A	G	11: 44,523,602 (GRCm39)	K146E	probably damaging	Het
Gfpt2	A	C	11: 49,718,038 (GRCm39)	R504S	probably damaging	Het
Gpank1	T	A	17: 35,343,284 (GRCm39)	S255T	probably damaging	Het
Greb1	T	C	12: 16,732,252 (GRCm39)	M1570V	probably damaging	Het
Gtf2i	A	T	5: 134,292,478 (GRCm39)	I403K	probably damaging	Het
Hoxc11	T	A	15: 102,863,270 (GRCm39)	C104S	probably damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ilrun	T	C	17: 27,986,910 (GRCm39)	N272S	probably damaging	Het
Khdrbs2	A	T	1: 32,683,238 (GRCm39)		probably benign	Het
Lix1l	G	T	3: 96,528,626 (GRCm39)	G200V	probably damaging	Het
Lrrc23	T	C	6: 124,755,114 (GRCm39)	N141S	probably damaging	Het
Marchf11	A	T	15: 26,309,748 (GRCm39)	D134V	probably damaging	Het
Myo9a	A	T	9: 59,762,653 (GRCm39)	T795S	probably benign	Het
Nhsl1	T	A	10: 18,401,223 (GRCm39)	D782E	probably benign	Het
Nptxr	T	C	15: 79,674,456 (GRCm39)		probably benign	Het
Nrp1	A	G	8: 129,195,079 (GRCm39)	M512V	possibly damaging	Het
Ofcc1	C	T	13: 40,362,305 (GRCm39)	G206R	probably benign	Het
Or12e7	ATTGCTACTC	A	2: 87,287,781 (GRCm39)		probably benign	Het
Or5b3	G	A	19: 13,388,754 (GRCm39)	A274T	probably benign	Het
Pard3	T	C	8: 128,104,761 (GRCm39)	F267S	probably benign	Het
Pomt2	G	A	12: 87,194,254 (GRCm39)	T50M	possibly damaging	Het
Qsox2	A	G	2: 26,104,137 (GRCm39)	Y298H	probably damaging	Het
Rabgap1	A	G	2: 37,382,080 (GRCm39)	K450E	possibly damaging	Het
Rpa1	A	T	11: 75,193,558 (GRCm39)	V591D	probably damaging	Het
Sall3	A	C	18: 81,013,007 (GRCm39)	M1143R	probably benign	Het
Scgb1b19	G	T	7: 32,986,768 (GRCm39)	A13S	unknown	Het
Scn1a	T	C	2: 66,168,340 (GRCm39)	T89A	probably benign	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Sdr42e1	T	G	8: 118,390,323 (GRCm39)	N106T	probably damaging	Het
Shpk	A	T	11: 73,105,945 (GRCm39)	M266L	probably benign	Het
Slc34a1	G	T	13: 55,550,846 (GRCm39)	R139L	probably benign	Het
Smbd1	C	A	16: 32,627,088 (GRCm39)	D67Y	probably damaging	Het
Srd5a3	A	G	5: 76,301,485 (GRCm39)	N238S	probably benign	Het
Tmprss2	T	C	16: 97,377,462 (GRCm39)	N212D	probably damaging	Het
Uap1	G	T	1: 169,984,480 (GRCm39)		probably benign	Het
Ugt1a6a	A	G	1: 88,066,736 (GRCm39)	M181V	probably benign	Het
Vmn2r32	C	T	7: 7,477,326 (GRCm39)	W355*	probably null	Het
Vmn2r86	T	A	10: 130,282,226 (GRCm39)	S797C	probably damaging	Het
Wiz	A	G	17: 32,606,616 (GRCm39)	S40P	probably damaging	Het
Zfand6	A	G	7: 84,265,181 (GRCm39)		probably benign	Het
Zfp280d	G	A	9: 72,236,449 (GRCm39)		probably null	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
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
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'- CACTCAGTTTCTGCTGGAAGTCCAC -3'
(R):5'- ATCTTTGGCTCTGTCAGCCACG -3'

Sequencing Primer
(F):5'- TAAAATGGCACTCCACAGTCTTTC -3'
(R):5'- ACGTCTTCTGGATTTGCCGAG -3'

Posted On

2014-01-05