Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00650:Hltf'

11282

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hltf

Ensembl Gene

ENSMUSG00000002428

Gene Name

helicase-like transcription factor

Synonyms

Snf2l3, Smarca3, P113

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00650

Quality Score

Status

Chromosome

Chromosomal Location

20111975-20172654 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 20159796 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118775 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002502] [ENSMUST00000143005] [ENSMUST00000145853]

AlphaFold

Q6PCN7

Predicted Effect

probably benign
Transcript: ENSMUST00000002502

SMART Domains

Protein: ENSMUSP00000002502
Gene: ENSMUSG00000002428

Domain	Start	End	E-Value	Type
HIRAN	60	154	3.78e-29	SMART
DEXDc	236	608	1.26e-32	SMART
RING	754	794	4.41e-6	SMART
low complexity region	814	828	N/A	INTRINSIC
HELICc	859	944	2.24e-15	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128127

Predicted Effect

probably benign
Transcript: ENSMUST00000143005

SMART Domains

Protein: ENSMUSP00000116570
Gene: ENSMUSG00000002428

Domain	Start	End	E-Value	Type
HIRAN	60	154	3.78e-29	SMART
DEXDc	236	610	2.36e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000145853

SMART Domains

Protein: ENSMUSP00000118775
Gene: ENSMUSG00000002428

Domain	Start	End	E-Value	Type
HIRAN	1	92	2.7e-25	SMART
DEXDc	174	548	2.36e-23	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155635

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SWI/SNF family. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein contains a RING finger DNA binding motif. Two transcript variants encoding the same protein have been found for this gene. However, use of an alternative translation start site produces an isoform that is truncated at the N-terminus compared to the full-length protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality, spongiform encephalopathy with increased brain apoptosis, and hypoglycemia. Mice homozygous for a different knock-out allele fail to show fluoxetine-induced neurogenesis and behavioral responses. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5530401A14Rik	A	G	11: 81,784,694 (GRCm39)		probably benign	Het
9130230L23Rik	T	C	5: 66,147,187 (GRCm39)	N76S	unknown	Het
Chm	A	G	X: 111,953,292 (GRCm39)	F574S	probably damaging	Het
Crygd	C	T	1: 65,101,250 (GRCm39)	R115Q	probably benign	Het
Dnah3	A	G	7: 119,538,128 (GRCm39)	I3619T	possibly damaging	Het
Dock11	A	T	X: 35,270,246 (GRCm39)		probably benign	Het
Duox1	T	A	2: 122,163,622 (GRCm39)	M818K	possibly damaging	Het
Ghrhr	A	G	6: 55,356,110 (GRCm39)	T68A	probably benign	Het
Inpp5f	T	A	7: 128,265,991 (GRCm39)	W211R	probably benign	Het
Jcad	A	G	18: 4,675,692 (GRCm39)	I1151M	probably benign	Het
Klra9	T	C	6: 130,156,060 (GRCm39)	K232E	probably benign	Het
Mycbp2	T	C	14: 103,380,664 (GRCm39)	N3664S	probably damaging	Het
Ndst2	A	C	14: 20,779,736 (GRCm39)	I168S	possibly damaging	Het
Nmral1	A	T	16: 4,534,240 (GRCm39)	L67Q	probably benign	Het
Nrk	G	T	X: 137,873,670 (GRCm39)	V322F	probably damaging	Het
Qpct	G	A	17: 79,378,318 (GRCm39)	V163M	probably damaging	Het
Rsf1	T	C	7: 97,331,096 (GRCm39)		probably null	Het
Scn1a	C	T	2: 66,111,137 (GRCm39)	G1484D	probably damaging	Het
Skic3	A	G	13: 76,275,626 (GRCm39)	D411G	possibly damaging	Het
Xpo5	T	C	17: 46,519,172 (GRCm39)	Y204H	probably damaging	Het
Zrsr2	A	T	X: 162,722,313 (GRCm39)	M313K	probably benign	Het

Other mutations in Hltf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01461:Hltf	APN	3	20,154,103 (GRCm39)	nonsense	probably null
IGL01630:Hltf	APN	3	20,137,068 (GRCm39)	splice site	probably benign
IGL01704:Hltf	APN	3	20,137,910 (GRCm39)	splice site	probably benign
IGL02059:Hltf	APN	3	20,160,621 (GRCm39)	missense	probably benign
IGL02105:Hltf	APN	3	20,146,921 (GRCm39)	missense	probably damaging	1.00
IGL02156:Hltf	APN	3	20,146,971 (GRCm39)	missense	possibly damaging	0.61
IGL02870:Hltf	APN	3	20,154,037 (GRCm39)	missense	probably damaging	0.98
IGL02899:Hltf	APN	3	20,153,981 (GRCm39)	missense	probably damaging	1.00
IGL02935:Hltf	APN	3	20,123,215 (GRCm39)	missense	probably damaging	1.00
IGL02950:Hltf	APN	3	20,130,736 (GRCm39)	missense	probably benign	0.07
IGL03082:Hltf	APN	3	20,118,723 (GRCm39)	splice site	probably benign
snarky	UTSW	3	20,163,651 (GRCm39)	critical splice donor site	probably null
R0068:Hltf	UTSW	3	20,113,254 (GRCm39)	missense	probably damaging	1.00
R0787:Hltf	UTSW	3	20,160,610 (GRCm39)	missense	probably damaging	1.00
R0905:Hltf	UTSW	3	20,163,033 (GRCm39)	critical splice donor site	probably null
R0980:Hltf	UTSW	3	20,145,665 (GRCm39)	missense	probably benign	0.00
R1741:Hltf	UTSW	3	20,140,352 (GRCm39)	missense	probably damaging	1.00
R1748:Hltf	UTSW	3	20,130,685 (GRCm39)	missense	probably benign	0.13
R1799:Hltf	UTSW	3	20,159,855 (GRCm39)	missense	probably damaging	1.00
R1976:Hltf	UTSW	3	20,160,610 (GRCm39)	missense	probably damaging	1.00
R2171:Hltf	UTSW	3	20,113,245 (GRCm39)	missense	probably damaging	1.00
R2395:Hltf	UTSW	3	20,146,906 (GRCm39)	missense	probably benign	0.41
R2444:Hltf	UTSW	3	20,118,071 (GRCm39)	missense	possibly damaging	0.66
R3789:Hltf	UTSW	3	20,123,211 (GRCm39)	missense	probably damaging	1.00
R3943:Hltf	UTSW	3	20,146,908 (GRCm39)	missense	probably damaging	1.00
R4719:Hltf	UTSW	3	20,118,865 (GRCm39)	critical splice donor site	probably null
R4793:Hltf	UTSW	3	20,118,114 (GRCm39)	missense	possibly damaging	0.79
R5296:Hltf	UTSW	3	20,162,276 (GRCm39)	missense	probably damaging	0.99
R5449:Hltf	UTSW	3	20,123,247 (GRCm39)	missense	possibly damaging	0.92
R5492:Hltf	UTSW	3	20,152,231 (GRCm39)	splice site	probably null
R6012:Hltf	UTSW	3	20,113,098 (GRCm39)	missense	probably damaging	1.00
R6157:Hltf	UTSW	3	20,130,660 (GRCm39)	missense	probably benign	0.13
R6254:Hltf	UTSW	3	20,117,993 (GRCm39)	missense	possibly damaging	0.85
R6553:Hltf	UTSW	3	20,126,558 (GRCm39)	missense	probably damaging	0.96
R6616:Hltf	UTSW	3	20,163,651 (GRCm39)	critical splice donor site	probably null
R6696:Hltf	UTSW	3	20,119,470 (GRCm39)	splice site	probably null
R6761:Hltf	UTSW	3	20,137,996 (GRCm39)	critical splice donor site	probably null
R6781:Hltf	UTSW	3	20,152,330 (GRCm39)	missense	probably benign	0.00
R7241:Hltf	UTSW	3	20,119,556 (GRCm39)	missense	probably benign	0.07
R7356:Hltf	UTSW	3	20,163,534 (GRCm39)	missense	probably damaging	1.00
R7453:Hltf	UTSW	3	20,136,916 (GRCm39)	missense	possibly damaging	0.81
R7765:Hltf	UTSW	3	20,145,647 (GRCm39)	missense	probably benign	0.02
R7978:Hltf	UTSW	3	20,146,968 (GRCm39)	missense	probably damaging	1.00
R8299:Hltf	UTSW	3	20,136,986 (GRCm39)	missense	possibly damaging	0.73
R8547:Hltf	UTSW	3	20,152,291 (GRCm39)	missense	probably damaging	1.00
R8857:Hltf	UTSW	3	20,159,825 (GRCm39)	missense	probably damaging	0.98
R8859:Hltf	UTSW	3	20,119,566 (GRCm39)	nonsense	probably null
R8926:Hltf	UTSW	3	20,123,323 (GRCm39)	critical splice donor site	probably null
R8959:Hltf	UTSW	3	20,136,936 (GRCm39)	missense	probably damaging	1.00
R9052:Hltf	UTSW	3	20,152,246 (GRCm39)	missense	probably damaging	1.00
R9214:Hltf	UTSW	3	20,140,280 (GRCm39)	missense	probably benign	0.01
R9405:Hltf	UTSW	3	20,137,094 (GRCm39)	missense	possibly damaging	0.88
R9565:Hltf	UTSW	3	20,136,996 (GRCm39)	critical splice donor site	probably null
X0027:Hltf	UTSW	3	20,121,553 (GRCm39)	missense	probably damaging	0.96

Posted On

2012-12-06