Mutagenetix > Incidental Mutation

Incidental Mutation 'R8859:Hltf'

675504

Institutional Source

Beutler Lab

Gene Symbol

Hltf

Ensembl Gene

ENSMUSG00000002428

Gene Name

helicase-like transcription factor

Synonyms

P113, Snf2l3, Smarca3

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8859 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20057811-20118490 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 20065402 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 204 (Q204*)

Ref Sequence

ENSEMBL: ENSMUSP00000002502 (fasta)

Gene Model

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

AlphaFold

Q6PCN7

Predicted Effect

probably null
Transcript: ENSMUST00000002502
AA Change: Q204*

SMART Domains

Protein: ENSMUSP00000002502
Gene: ENSMUSG00000002428
AA Change: Q204*

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

probably null
Transcript: ENSMUST00000143005
AA Change: Q204*

SMART Domains

Protein: ENSMUSP00000116570
Gene: ENSMUSG00000002428
AA Change: Q204*

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

Predicted Effect

probably null
Transcript: ENSMUST00000145853
AA Change: Q142*

SMART Domains

Protein: ENSMUSP00000118775
Gene: ENSMUSG00000002428
AA Change: Q142*

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

Meta Mutation Damage Score

0.9756

Coding Region Coverage

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

Validation Efficiency

99% (95/96)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,378,397	Y3490F		Het
Abcc1	T	C	16: 14,396,361	V167A	probably benign	Het
Abcd2	G	A	15: 91,188,946	R337C	probably damaging	Het
Adcy1	A	G	11: 7,161,877	D914G	probably benign	Het
Ahnak	G	T	19: 9,007,203	L1950F	probably damaging	Het
Alox5ap	T	C	5: 149,265,184		probably null	Het
Ank	C	T	15: 27,562,748	H181Y	possibly damaging	Het
Ankrd44	T	A	1: 54,667,521	D592V	possibly damaging	Het
Ap4m1	T	A	5: 138,175,923	N185K	possibly damaging	Het
Arhgef28	T	A	13: 97,945,702	D1199V	probably damaging	Het
Arnt	T	C	3: 95,490,380		probably null	Het
Atcay	C	T	10: 81,224,464	V13M	probably benign	Het
B4galt3	T	C	1: 171,271,671	S2P	unknown	Het
Bicra	A	T	7: 15,987,812	S593R	possibly damaging	Het
Brsk2	A	C	7: 141,998,678	Q633P	probably damaging	Het
Cacna1c	T	A	6: 118,676,319	S909C		Het
Ccdc7a	G	A	8: 129,061,632	T72M	probably benign	Het
Cct2	A	T	10: 117,060,834	F155I	possibly damaging	Het
Cdv3	G	T	9: 103,356,395	P194T	probably damaging	Het
Cenpc1	A	T	5: 86,012,294	V895E	probably benign	Het
Cep170b	T	C	12: 112,736,447	V448A	probably benign	Het
Chil3	G	A	3: 106,164,124	R75C	possibly damaging	Het
Cnfn	A	T	7: 25,368,444	C24S	probably benign	Het
Cnga3	A	G	1: 37,260,771	K191E	possibly damaging	Het
Col12a1	A	T	9: 79,680,399	Y1153*	probably null	Het
Coq4	C	A	2: 29,795,479	H168Q	probably damaging	Het
Cyr61	T	C	3: 145,648,625	D177G	probably benign	Het
Dnajc14	G	A	10: 128,806,619	V137I	probably benign	Het
Efr3a	T	C	15: 65,854,765	L569P	probably damaging	Het
Epb41l3	A	T	17: 69,284,580	E677D	probably benign	Het
Esp8	G	A	17: 40,530,122	M91I	unknown	Het
Fubp1	A	T	3: 152,232,032		probably benign	Het
Gldc	G	T	19: 30,139,379	A391D	probably damaging	Het
Gm17728	A	G	17: 9,422,195	T46A	probably benign	Het
Gm5798	A	G	14: 41,350,646	K112E	probably damaging	Het
Gm884	A	C	11: 103,615,544	I1866S	unknown	Het
Gpnmb	A	G	6: 49,052,030		probably benign	Het
Grwd1	T	C	7: 45,825,874	T415A	probably benign	Het
Gsdma3	C	G	11: 98,631,260	A172G	possibly damaging	Het
Igf1r	T	G	7: 68,183,463	V457G	possibly damaging	Het
Inhbc	A	T	10: 127,357,115	M344K	probably damaging	Het
Jak3	C	T	8: 71,678,516	A60V	probably benign	Het
Kif13b	A	G	14: 64,742,433	T511A	probably benign	Het
Lama2	T	A	10: 27,459,388	N97I	possibly damaging	Het
Limd2	T	A	11: 106,158,750	D104V	probably damaging	Het
Loxl3	T	A	6: 83,037,545	C145S	probably damaging	Het
Lrrc73	A	G	17: 46,254,529	N62S	probably benign	Het
Lrrtm4	A	G	6: 80,021,887	D94G	probably damaging	Het
Lsm3	C	A	6: 91,522,270	F86L	probably damaging	Het
Map10	T	C	8: 125,670,552	V228A	probably benign	Het
Mcidas	A	C	13: 112,994,130	S54R	possibly damaging	Het
Me3	T	C	7: 89,806,668	Y243H	probably damaging	Het
Mgat4b	A	G	11: 50,230,847	T89A	possibly damaging	Het
Mmp16	T	A	4: 18,054,355		probably benign	Het
Mtmr9	G	A	14: 63,543,777		probably benign	Het
Myo1b	G	T	1: 51,797,039	A331E	probably damaging	Het
Ncoa6	C	T	2: 155,406,468	V1639M	possibly damaging	Het
Nek9	C	T	12: 85,306,346	G752R	probably damaging	Het
Nufip2	A	G	11: 77,693,243	Y661C	probably benign	Het
Olfr1490	T	A	19: 13,654,882	V151E	probably damaging	Het
Olfr354	C	T	2: 36,907,504	A186V	possibly damaging	Het
Olfr574	A	T	7: 102,949,166	I234F	probably damaging	Het
Olfr828	T	C	9: 18,815,696	I199M	possibly damaging	Het
Olfr972	G	A	9: 39,873,598	G108S	probably benign	Het
Oxct2a	A	G	4: 123,322,529	L353S	probably benign	Het
Parvg	A	G	15: 84,337,800	I243V	probably benign	Het
Pcdhgb7	C	A	18: 37,753,296	N506K	possibly damaging	Het
Peg10	T	TCCA	6: 4,756,451		probably benign	Het
Pgghg	G	A	7: 140,945,454		probably null	Het
Phrf1	G	T	7: 141,256,603	G263W	unknown	Het
Ppfia1	A	C	7: 144,479,025		probably null	Het
Ppp1r32	T	A	19: 10,482,235	Y36F	probably damaging	Het
Prss37	T	A	6: 40,514,963	I228F	probably damaging	Het
Ptpro	A	T	6: 137,426,784	K921*	probably null	Het
Rictor	T	G	15: 6,783,586	L940R	probably damaging	Het
Rp1	A	G	1: 4,349,960	S310P	probably benign	Het
Ryr3	A	G	2: 112,653,219	V4091A	probably damaging	Het
Sirt5	T	A	13: 43,370,851	M33K	possibly damaging	Het
Slc25a30	T	A	14: 75,771,477	Y90F	probably benign	Het
St5	T	A	7: 109,524,656	K1132M	probably damaging	Het
Stk11	G	A	10: 80,128,435	D388N	probably benign	Het
Tgm1	C	A	14: 55,712,229	R126L	probably benign	Het
Tmem110	T	A	14: 30,866,672	Y119N	probably damaging	Het
Tmem129	G	T	5: 33,654,493	T321N	probably benign	Het
Tnfrsf11a	A	T	1: 105,844,518		probably null	Het
Tor1aip1	A	G	1: 156,031,444	C195R	probably benign	Het
Tpr	A	G	1: 150,408,846	E428G	possibly damaging	Het
Trps1	T	A	15: 50,822,373	D802V	possibly damaging	Het
Usp17lc	T	A	7: 103,415,109	S6T	probably benign	Het
Vangl1	C	A	3: 102,158,442	R459L		Het
Vmn1r43	T	C	6: 89,869,955	Y183C	probably damaging	Het
Vmn2r110	C	T	17: 20,574,298	C703Y	probably damaging	Het
Vmn2r54	T	C	7: 12,629,775	Q397R	possibly damaging	Het
Vmn2r88	T	C	14: 51,418,806	V824A	probably damaging	Het
Vmn2r89	A	T	14: 51,455,713	Y79F	probably benign	Het
Vnn1	T	C	10: 23,904,586	S491P	probably benign	Het
Zbbx	A	G	3: 75,061,434	F572L	unknown	Het
Zc3h4	A	T	7: 16,435,014	Q1091L	unknown	Het
Zfp503	C	T	14: 21,987,218	V106I	possibly damaging	Het
Zfp874a	T	C	13: 67,442,528	T346A	probably benign	Het

Other mutations in Hltf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00650:Hltf	APN	3	20105632	splice site	probably benign
IGL01461:Hltf	APN	3	20099939	nonsense	probably null
IGL01630:Hltf	APN	3	20082904	splice site	probably benign
IGL01704:Hltf	APN	3	20083746	splice site	probably benign
IGL02059:Hltf	APN	3	20106457	missense	probably benign
IGL02105:Hltf	APN	3	20092757	missense	probably damaging	1.00
IGL02156:Hltf	APN	3	20092807	missense	possibly damaging	0.61
IGL02870:Hltf	APN	3	20099873	missense	probably damaging	0.98
IGL02899:Hltf	APN	3	20099817	missense	probably damaging	1.00
IGL02935:Hltf	APN	3	20069051	missense	probably damaging	1.00
IGL02950:Hltf	APN	3	20076572	missense	probably benign	0.07
IGL03082:Hltf	APN	3	20064559	splice site	probably benign
snarky	UTSW	3	20109487	critical splice donor site	probably null
R0068:Hltf	UTSW	3	20059090	missense	probably damaging	1.00
R0787:Hltf	UTSW	3	20106446	missense	probably damaging	1.00
R0905:Hltf	UTSW	3	20108869	critical splice donor site	probably null
R0980:Hltf	UTSW	3	20091501	missense	probably benign	0.00
R1741:Hltf	UTSW	3	20086188	missense	probably damaging	1.00
R1748:Hltf	UTSW	3	20076521	missense	probably benign	0.13
R1799:Hltf	UTSW	3	20105691	missense	probably damaging	1.00
R1976:Hltf	UTSW	3	20106446	missense	probably damaging	1.00
R2171:Hltf	UTSW	3	20059081	missense	probably damaging	1.00
R2395:Hltf	UTSW	3	20092742	missense	probably benign	0.41
R2444:Hltf	UTSW	3	20063907	missense	possibly damaging	0.66
R3789:Hltf	UTSW	3	20069047	missense	probably damaging	1.00
R3943:Hltf	UTSW	3	20092744	missense	probably damaging	1.00
R4719:Hltf	UTSW	3	20064701	critical splice donor site	probably null
R4793:Hltf	UTSW	3	20063950	missense	possibly damaging	0.79
R5296:Hltf	UTSW	3	20108112	missense	probably damaging	0.99
R5449:Hltf	UTSW	3	20069083	missense	possibly damaging	0.92
R5492:Hltf	UTSW	3	20098067	splice site	probably null
R6012:Hltf	UTSW	3	20058934	missense	probably damaging	1.00
R6157:Hltf	UTSW	3	20076496	missense	probably benign	0.13
R6254:Hltf	UTSW	3	20063829	missense	possibly damaging	0.85
R6553:Hltf	UTSW	3	20072394	missense	probably damaging	0.96
R6616:Hltf	UTSW	3	20109487	critical splice donor site	probably null
R6696:Hltf	UTSW	3	20065306	splice site	probably null
R6761:Hltf	UTSW	3	20083832	critical splice donor site	probably null
R6781:Hltf	UTSW	3	20098166	missense	probably benign	0.00
R7241:Hltf	UTSW	3	20065392	missense	probably benign	0.07
R7356:Hltf	UTSW	3	20109370	missense	probably damaging	1.00
R7453:Hltf	UTSW	3	20082752	missense	possibly damaging	0.81
R7765:Hltf	UTSW	3	20091483	missense	probably benign	0.02
R7978:Hltf	UTSW	3	20092804	missense	probably damaging	1.00
R8299:Hltf	UTSW	3	20082822	missense	possibly damaging	0.73
R8547:Hltf	UTSW	3	20098127	missense	probably damaging	1.00
R8857:Hltf	UTSW	3	20105661	missense	probably damaging	0.98
R8926:Hltf	UTSW	3	20069159	critical splice donor site	probably null
R8959:Hltf	UTSW	3	20082772	missense	probably damaging	1.00
R9052:Hltf	UTSW	3	20098082	missense	probably damaging	1.00
R9214:Hltf	UTSW	3	20086116	missense	probably benign	0.01
R9405:Hltf	UTSW	3	20082930	missense	possibly damaging	0.88
R9565:Hltf	UTSW	3	20082832	critical splice donor site	probably null
X0027:Hltf	UTSW	3	20067389	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CAAGTGTTCTGCCACTGAGGTG -3'
(R):5'- AAGAGTGTATCAGTGGCAGC -3'

Sequencing Primer
(F):5'- CCAGGTCTGGGAAGTTTTAATACTG -3'
(R):5'- CAGCAGAGGTGATAAGCTTTTG -3'

Posted On

2021-07-15