Mutagenetix > Incidental Mutation

Incidental Mutation 'R0600:Ahctf1'

55264

Institutional Source

Beutler Lab

Gene Symbol

Ahctf1

Ensembl Gene

ENSMUSG00000026491

Gene Name

AT hook containing transcription factor 1

Synonyms

6230412P20Rik, Elys

MMRRC Submission

038789-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0600 (G1)

Quality Score

126

Status

Validated

Chromosome

Chromosomal Location

179744894-179803680 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to C at 179763468 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

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

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

probably benign
Transcript: ENSMUST00000127250

Predicted Effect

probably benign
Transcript: ENSMUST00000145968

Meta Mutation Damage Score

0.9470

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 93.5%

Validation Efficiency

99% (95/96)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	G	7: 131,357,660	S150P	probably damaging	Het
4932431P20Rik	T	A	7: 29,533,265		noncoding transcript	Het
5530400C23Rik	T	G	6: 133,293,211		probably benign	Het
Ang5	T	C	14: 43,962,749	V90A	probably benign	Het
Ano9	C	T	7: 141,104,710	G442R	probably damaging	Het
Apaf1	G	A	10: 91,060,052	T386I	probably damaging	Het
Apob	C	A	12: 8,006,440	H1608N	probably damaging	Het
Arhgap12	C	A	18: 6,064,433		probably benign	Het
Asxl1	T	A	2: 153,399,904	D791E	probably benign	Het
Avl9	T	C	6: 56,736,906	V383A	probably benign	Het
Btbd1	A	C	7: 81,816,006	D197E	probably damaging	Het
C87499	A	T	4: 88,629,299	I45K	probably damaging	Het
Camta2	T	C	11: 70,673,959	I938V	possibly damaging	Het
Cdca7	C	A	2: 72,483,467	A200D	possibly damaging	Het
Cep104	A	T	4: 154,006,792	Y923F	possibly damaging	Het
Cep135	G	C	5: 76,621,305	V601L	probably benign	Het
Ces2b	G	A	8: 104,835,910	G291S	probably benign	Het
Col6a6	C	T	9: 105,761,440	G1400D	probably damaging	Het
Cyth2	T	C	7: 45,813,117	E1G	probably damaging	Het
Dand5	A	T	8: 84,816,292	L185Q	probably damaging	Het
Dck	T	C	5: 88,781,221	V253A	probably benign	Het
Ddx20	A	G	3: 105,679,080	S650P	probably damaging	Het
Dicer1	G	A	12: 104,706,864	P799S	probably damaging	Het
Dst	C	T	1: 34,189,119	P1606L	probably damaging	Het
Eya2	G	A	2: 165,769,237	C477Y	probably damaging	Het
Fam208b	A	T	13: 3,576,054	F1299I	probably benign	Het
Fip1l1	T	A	5: 74,595,842	N498K	probably damaging	Het
Flt4	C	T	11: 49,636,339		probably benign	Het
Galntl6	T	C	8: 57,837,183		probably null	Het
Gda	A	T	19: 21,434,303	F44I	possibly damaging	Het
Gli2	G	A	1: 118,840,389	R703C	probably damaging	Het
Gm14085	A	T	2: 122,514,398	I162F	probably damaging	Het
Golgb1	T	A	16: 36,916,271	L1960Q	probably damaging	Het
Gramd1b	T	C	9: 40,308,355	D341G	probably damaging	Het
Grid2	G	T	6: 63,503,435	A78S	probably benign	Het
Hao2	A	T	3: 98,883,560		probably benign	Het
Hook3	A	G	8: 26,118,986	V10A	probably benign	Het
Kif20a	A	G	18: 34,629,209	E425G	probably damaging	Het
Lrp1	T	C	10: 127,567,383	D2107G	probably benign	Het
Lrriq3	T	C	3: 155,187,736	I358T	possibly damaging	Het
Mad2l2	A	G	4: 148,140,924	D17G	possibly damaging	Het
Mastl	G	T	2: 23,133,346	T455K	probably benign	Het
Mkln1	G	T	6: 31,432,927		probably benign	Het
Mmp1b	A	T	9: 7,387,947	Y16N	possibly damaging	Het
Mmp24	C	T	2: 155,792,597	A79V	probably benign	Het
Mrps35	T	A	6: 147,070,734	C292S	possibly damaging	Het
Myom1	T	C	17: 71,120,648	F1435L	possibly damaging	Het
Nars2	C	T	7: 97,039,923	H351Y	probably damaging	Het
Nat2	A	T	8: 67,501,267	I10F	probably damaging	Het
Nfix	G	A	8: 84,726,526	R300C	probably damaging	Het
Olfm5	A	T	7: 104,153,869	Y462*	probably null	Het
Olfr1228	C	A	2: 89,249,398	E87*	probably null	Het
Olfr1339	C	T	4: 118,734,789	H87Y	probably damaging	Het
Olfr1508	T	C	14: 52,463,509	I167V	probably benign	Het
Olfr322	C	A	11: 58,666,160	F200L	probably damaging	Het
Olfr340	C	A	2: 36,452,648	A21E	probably benign	Het
Olfr44	A	T	9: 39,484,988	F85L	probably benign	Het
Olfr495	T	A	7: 108,395,231	I37N	probably damaging	Het
Olfr855	T	C	9: 19,585,304	S256P	possibly damaging	Het
Olfr926	T	A	9: 38,877,815	I213N	probably damaging	Het
Otog	A	T	7: 46,251,395		probably benign	Het
Pdcd2l	A	T	7: 34,192,807	D212E	possibly damaging	Het
Pex5	T	C	6: 124,404,637	N213S	probably benign	Het
Pkn3	C	T	2: 30,081,134	P238S	probably benign	Het
Prl2b1	A	T	13: 27,390,740		probably null	Het
Ptprb	A	T	10: 116,368,807	I1849L	possibly damaging	Het
Rasal3	G	T	17: 32,393,526	S787Y	probably damaging	Het
Scn2a	T	A	2: 65,701,833	D596E	possibly damaging	Het
Sdhd	A	T	9: 50,603,764	V9D	possibly damaging	Het
Serinc5	T	C	13: 92,708,057	S436P	probably damaging	Het
Slc27a1	C	T	8: 71,584,164	P348L	probably damaging	Het
Smg1	G	A	7: 118,160,383		probably benign	Het
Sorl1	A	T	9: 42,043,900		probably benign	Het
Sprtn	T	A	8: 124,900,218	H112Q	probably damaging	Het
Tet2	A	G	3: 133,467,602	M1633T	probably benign	Het
Tet2	T	A	3: 133,467,725	D1592V	probably benign	Het
Tmem68	A	T	4: 3,569,667	C8S	probably damaging	Het
Tnrc6a	T	A	7: 123,171,816	I943N	probably benign	Het
Trib2	A	T	12: 15,794,068	V191D	probably damaging	Het
Tsc22d4	T	C	5: 137,762,655	S113P	probably damaging	Het
Ttc21b	T	C	2: 66,239,570	R250G	probably damaging	Het
Ubr2	T	C	17: 46,967,248	Y721C	probably damaging	Het
Ubtfl1	A	T	9: 18,409,364	I63F	probably damaging	Het
Ush1c	G	A	7: 46,224,908	P171S	probably benign	Het
Utp20	A	T	10: 88,767,461	N1843K	probably damaging	Het
Vangl1	A	G	3: 102,166,937	Y285H	probably damaging	Het
Virma	A	G	4: 11,498,769	D70G	probably damaging	Het
Vmn2r102	T	C	17: 19,678,015	F431L	probably benign	Het
Wdr17	A	G	8: 54,661,495	I662T	probably damaging	Het
Wisp2	G	A	2: 163,825,313	C78Y	probably damaging	Het
Zfp160	G	A	17: 21,027,006	R606H	probably benign	Het
Zfp369	C	T	13: 65,296,434	R464C	probably damaging	Het

Other mutations in Ahctf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00757:Ahctf1	APN	1	179769131	missense	probably damaging	1.00
IGL01714:Ahctf1	APN	1	179795877	missense	probably damaging	0.99
IGL01787:Ahctf1	APN	1	179753322	missense	probably benign
IGL01997:Ahctf1	APN	1	179755462	missense	probably damaging	0.99
IGL02035:Ahctf1	APN	1	179766014	missense	probably benign	0.00
IGL02158:Ahctf1	APN	1	179779652	missense	possibly damaging	0.64
IGL02182:Ahctf1	APN	1	179753078	missense	probably benign	0.00
IGL02298:Ahctf1	APN	1	179752479	missense	probably benign	0.00
IGL02325:Ahctf1	APN	1	179776015	missense	probably benign	0.14
IGL02619:Ahctf1	APN	1	179792451	missense	possibly damaging	0.90
IGL02858:Ahctf1	APN	1	179769034	missense	probably damaging	0.96
IGL02893:Ahctf1	APN	1	179776011	nonsense	probably null
IGL02895:Ahctf1	APN	1	179793811	missense	probably damaging	1.00
IGL03180:Ahctf1	APN	1	179775330	critical splice donor site	probably null
IGL03220:Ahctf1	APN	1	179788202	missense	probably benign	0.01
cerebro	UTSW	1	179769414	missense	probably damaging	0.99
R0003:Ahctf1	UTSW	1	179763473	missense	probably benign	0.04
R0024:Ahctf1	UTSW	1	179752436	missense	probably damaging	0.98
R0030:Ahctf1	UTSW	1	179752436	missense	probably damaging	0.98
R0432:Ahctf1	UTSW	1	179784161	missense	probably damaging	0.98
R0481:Ahctf1	UTSW	1	179760271	missense	probably benign	0.00
R0613:Ahctf1	UTSW	1	179769414	missense	probably damaging	0.99
R0814:Ahctf1	UTSW	1	179762908	missense	probably benign	0.26
R1055:Ahctf1	UTSW	1	179763486	missense	possibly damaging	0.46
R1473:Ahctf1	UTSW	1	179776108	missense	probably benign	0.30
R1473:Ahctf1	UTSW	1	179799279	missense	probably damaging	0.99
R1689:Ahctf1	UTSW	1	179768383	missense	probably damaging	0.96
R1778:Ahctf1	UTSW	1	179753015	missense	possibly damaging	0.57
R1878:Ahctf1	UTSW	1	179775509	missense	possibly damaging	0.96
R1925:Ahctf1	UTSW	1	179770653	missense	probably damaging	0.98
R2118:Ahctf1	UTSW	1	179769452	missense	probably damaging	1.00
R2122:Ahctf1	UTSW	1	179769452	missense	probably damaging	1.00
R2124:Ahctf1	UTSW	1	179769452	missense	probably damaging	1.00
R2373:Ahctf1	UTSW	1	179795796	missense	probably damaging	1.00
R2509:Ahctf1	UTSW	1	179770693	missense	possibly damaging	0.51
R2697:Ahctf1	UTSW	1	179752532	missense	probably damaging	0.99
R3035:Ahctf1	UTSW	1	179753870	missense	probably damaging	1.00
R3155:Ahctf1	UTSW	1	179755583	missense	probably damaging	0.98
R3899:Ahctf1	UTSW	1	179777780	missense	possibly damaging	0.95
R4036:Ahctf1	UTSW	1	179762616	missense	possibly damaging	0.61
R4681:Ahctf1	UTSW	1	179752796	missense	probably benign	0.27
R4695:Ahctf1	UTSW	1	179753054	missense	possibly damaging	0.78
R4735:Ahctf1	UTSW	1	179753399	missense	probably benign	0.00
R4857:Ahctf1	UTSW	1	179799357	unclassified	probably benign
R4898:Ahctf1	UTSW	1	179755512	missense	probably benign	0.02
R4905:Ahctf1	UTSW	1	179748627	missense	probably damaging	1.00
R5011:Ahctf1	UTSW	1	179784110	missense	possibly damaging	0.92
R5013:Ahctf1	UTSW	1	179784110	missense	possibly damaging	0.92
R5053:Ahctf1	UTSW	1	179786784	missense	possibly damaging	0.82
R5207:Ahctf1	UTSW	1	179793594	intron	probably benign
R5319:Ahctf1	UTSW	1	179769050	missense	probably damaging	1.00
R5343:Ahctf1	UTSW	1	179770634	nonsense	probably null
R5546:Ahctf1	UTSW	1	179754068	missense	probably benign	0.01
R5718:Ahctf1	UTSW	1	179769339	missense	possibly damaging	0.54
R5862:Ahctf1	UTSW	1	179788330	missense	probably damaging	1.00
R5958:Ahctf1	UTSW	1	179746542	unclassified	probably benign
R6010:Ahctf1	UTSW	1	179795813	missense	possibly damaging	0.80
R6081:Ahctf1	UTSW	1	179781672	missense	probably benign	0.07
R6093:Ahctf1	UTSW	1	179762952	missense	probably benign	0.01
R6207:Ahctf1	UTSW	1	179777390	splice site	probably null
R6268:Ahctf1	UTSW	1	179763483	missense	probably benign	0.08
R6656:Ahctf1	UTSW	1	179753513	missense	probably benign	0.05
R6668:Ahctf1	UTSW	1	179752407	missense	probably benign	0.04
R6788:Ahctf1	UTSW	1	179752634	missense	probably benign	0.00
R6860:Ahctf1	UTSW	1	179753288	missense	probably benign	0.04
R6998:Ahctf1	UTSW	1	179770915	nonsense	probably null
R7082:Ahctf1	UTSW	1	179775333	missense	probably benign	0.15
R7385:Ahctf1	UTSW	1	179753381	missense	possibly damaging	0.66
R7414:Ahctf1	UTSW	1	179784105	missense	probably benign	0.00
R7663:Ahctf1	UTSW	1	179790314	missense	possibly damaging	0.66
R7673:Ahctf1	UTSW	1	179762846	missense	probably benign	0.02
R7715:Ahctf1	UTSW	1	179770848	missense	probably benign	0.00
R7819:Ahctf1	UTSW	1	179768315	missense	probably benign
R7846:Ahctf1	UTSW	1	179787073	missense	probably damaging	0.99
R7912:Ahctf1	UTSW	1	179753091	missense	probably benign	0.00
R7942:Ahctf1	UTSW	1	179786095	missense	possibly damaging	0.66
R8282:Ahctf1	UTSW	1	179777806	missense	possibly damaging	0.68
R8376:Ahctf1	UTSW	1	179782955	missense	probably damaging	0.99
R8439:Ahctf1	UTSW	1	179762610	missense	possibly damaging	0.89
R8482:Ahctf1	UTSW	1	179763542	unclassified	probably benign
R8683:Ahctf1	UTSW	1	179795756	missense	possibly damaging	0.70
R8734:Ahctf1	UTSW	1	179780865	nonsense	probably null
R8855:Ahctf1	UTSW	1	179786776	missense	probably damaging	0.99
R8928:Ahctf1	UTSW	1	179769061	missense	possibly damaging	0.49
R9009:Ahctf1	UTSW	1	179753606	missense	probably benign	0.11
R9106:Ahctf1	UTSW	1	179787036	missense	probably benign	0.04
R9228:Ahctf1	UTSW	1	179784120	missense	probably benign	0.28
R9408:Ahctf1	UTSW	1	179776073	missense	possibly damaging	0.46
R9800:Ahctf1	UTSW	1	179753868	missense	possibly damaging	0.77
X0067:Ahctf1	UTSW	1	179777704	missense	probably damaging	0.99
Z1177:Ahctf1	UTSW	1	179793730	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

2013-07-11