Mutagenetix > Incidental Mutation

Incidental Mutation 'R8482:Ahctf1'

668191

Institutional Source

Beutler Lab

Gene Symbol

Ahctf1

Ensembl Gene

ENSMUSG00000026491

Gene Name

AT hook containing transcription factor 1

Synonyms

Elys, 6230412P20Rik

MMRRC Submission

067926-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8482 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

179572459-179631245 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 179591107 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115795 (fasta)

Gene Model

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

AlphaFold

Q8CJF7

Predicted Effect

silent
Transcript: ENSMUST00000027768

SMART Domains

Protein: ENSMUSP00000027768
Gene: ENSMUSG00000026491

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

unknown
Transcript: ENSMUST00000127250
AA Change: S31P

Predicted Effect

probably benign
Transcript: ENSMUST00000145968

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (49/49)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	G	A	7: 78,746,492 (GRCm39)	V711I	probably benign	Het
Adprh	A	T	16: 38,267,871 (GRCm39)	M138K	probably damaging	Het
Atg9a	G	A	1: 75,162,870 (GRCm39)	T410M	probably damaging	Het
Atxn1	A	T	13: 45,721,426 (GRCm39)	S156R	possibly damaging	Het
Bptf	T	C	11: 106,934,524 (GRCm39)	T2850A	probably benign	Het
Cc2d2a	A	T	5: 43,852,581 (GRCm39)	Y386F	probably damaging	Het
Ccdc97	T	C	7: 25,414,427 (GRCm39)	D109G	probably damaging	Het
Chd5	C	T	4: 152,441,147 (GRCm39)	R196*	probably null	Het
Clec4a2	T	C	6: 123,100,630 (GRCm39)		probably null	Het
Col13a1	A	G	10: 61,720,477 (GRCm39)	I317T	probably damaging	Het
D630003M21Rik	G	T	2: 158,058,852 (GRCm39)	S349R	probably benign	Het
Eml5	C	A	12: 98,842,560 (GRCm39)	L179F	probably damaging	Het
Entrep1	T	A	19: 23,965,866 (GRCm39)	N211I	probably damaging	Het
Ets2	A	T	16: 95,516,019 (GRCm39)	M200L	probably benign	Het
Fat3	T	C	9: 16,158,263 (GRCm39)	T1116A	probably benign	Het
Fhit	A	G	14: 10,751,616 (GRCm38)	V24A	probably benign	Het
Gm6685	T	C	11: 28,289,195 (GRCm39)	N207S	probably benign	Het
Hdc	G	A	2: 126,436,125 (GRCm39)	T582M	probably benign	Het
Hmgxb4	G	A	8: 75,756,222 (GRCm39)	C575Y	probably damaging	Het
Kidins220	T	A	12: 25,090,527 (GRCm39)	S1164T	probably benign	Het
Ldb1	C	A	19: 46,024,709 (GRCm39)	D5Y	probably null	Het
Lpcat1	G	A	13: 73,659,044 (GRCm39)	R320H	probably benign	Het
Lrfn4	T	C	19: 4,664,333 (GRCm39)	D67G	probably damaging	Het
Myo15b	C	T	11: 115,774,083 (GRCm39)	Q550*	probably null	Het
Myo18b	C	A	5: 113,019,489 (GRCm39)	E43*	probably null	Het
Neurl1a	T	C	19: 47,241,719 (GRCm39)	C271R	probably damaging	Het
Nfasc	T	C	1: 132,532,827 (GRCm39)	S690G	probably damaging	Het
Ngly1	T	C	14: 16,310,377 (GRCm38)	S501P	probably benign	Het
Nlrp1a	A	T	11: 70,999,901 (GRCm39)		probably null	Het
Npw	A	G	17: 24,876,396 (GRCm39)	W172R	probably benign	Het
Nudt8	T	C	19: 4,050,849 (GRCm39)		probably null	Het
Nyap2	A	T	1: 81,219,352 (GRCm39)	Y458F	probably damaging	Het
Or10ag56	G	A	2: 87,139,726 (GRCm39)	V198I	probably benign	Het
Osbpl5	T	A	7: 143,258,731 (GRCm39)	T280S	probably benign	Het
Pex1	A	T	5: 3,662,923 (GRCm39)	I505F	probably benign	Het
Pfkm	A	G	15: 98,029,864 (GRCm39)	E756G	probably benign	Het
Pkd2l2	A	G	18: 34,558,166 (GRCm39)	I282V	possibly damaging	Het
Pnpla8	T	C	12: 44,330,410 (GRCm39)	S321P	probably benign	Het
Prxl2a	C	T	14: 40,719,723 (GRCm39)	E164K	probably benign	Het
Qdpr	G	T	5: 45,596,688 (GRCm39)	Q159K	probably benign	Het
Rac2	T	C	15: 78,450,206 (GRCm39)	M45V	probably benign	Het
Rnaset2b	G	A	17: 7,263,908 (GRCm39)		probably null	Het
Rpl38	T	A	11: 114,563,114 (GRCm39)	*71R	probably null	Het
Sacs	G	T	14: 61,440,404 (GRCm39)	V817L	probably benign	Het
Selenot	T	C	3: 58,495,889 (GRCm39)	F133S	probably damaging	Het
Sgcg	G	A	14: 61,477,856 (GRCm39)	L78F	probably damaging	Het
Slc19a1	A	G	10: 76,885,497 (GRCm39)	R466G	probably benign	Het
Tpr	A	G	1: 150,309,451 (GRCm39)	T1736A	probably damaging	Het
Zfhx3	A	G	8: 109,674,511 (GRCm39)	I1854V	probably benign	Het
Zfp652	T	C	11: 95,643,719 (GRCm39)	S306P	probably damaging	Het
Zfp998	C	T	13: 66,579,797 (GRCm39)		probably benign	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
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'- AAATGGCACTCCACAGTCTTTC -3'
(R):5'- GATTACTGTCTGCACTTGTGTAAC -3'

Sequencing Primer
(F):5'- GCTTAGCTCAAATATAGGCTAAAGG -3'
(R):5'- GTCTTCTGGATTTGCCGA -3'

Posted On

2021-04-21