Mutagenetix > Incidental Mutation

Incidental Mutation 'R7453:Hltf'

577863

Institutional Source

Beutler Lab

Gene Symbol

Hltf

Ensembl Gene

ENSMUSG00000002428

Gene Name

helicase-like transcription factor

Synonyms

Snf2l3, Smarca3, P113

MMRRC Submission

045527-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7453 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20111975-20172654 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 20136916 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 384 (R384S)

Ref Sequence

ENSEMBL: ENSMUSP00000002502 (fasta)

Gene Model

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

AlphaFold

Q6PCN7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000002502
AA Change: R384S

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000002502
Gene: ENSMUSG00000002428
AA Change: R384S

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 damaging
Transcript: ENSMUST00000143005
AA Change: R384S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000116570
Gene: ENSMUSG00000002428
AA Change: R384S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000145853
AA Change: R322S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118775
Gene: ENSMUSG00000002428
AA Change: R322S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (122/122)

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: 120 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430550D23Rik	A	G	2: 155,845,309 (GRCm39)	S32P	possibly damaging	Het
Acaca	T	C	11: 84,136,136 (GRCm39)	V497A	probably benign	Het
Acox1	T	C	11: 116,071,787 (GRCm39)	T214A	probably benign	Het
Adgrb2	G	A	4: 129,908,430 (GRCm39)		probably null	Het
Adh1	G	A	3: 137,995,702 (GRCm39)		probably null	Het
Angptl1	G	T	1: 156,672,421 (GRCm39)	M82I	probably benign	Het
Arg1	A	G	10: 24,791,674 (GRCm39)	L269P	probably damaging	Het
Arid2	T	G	15: 96,268,605 (GRCm39)	V906G	probably benign	Het
Arid5b	A	T	10: 68,078,994 (GRCm39)	H114Q	probably benign	Het
Atad5	T	C	11: 80,009,969 (GRCm39)		probably null	Het
AU040320	G	A	4: 126,729,493 (GRCm39)		probably null	Het
B230104I21Rik	A	T	4: 154,432,185 (GRCm39)	T44S	unknown	Het
BC024063	G	A	10: 81,945,991 (GRCm39)	R537H	possibly damaging	Het
Bfsp2	A	T	9: 103,330,306 (GRCm39)	L177Q	probably damaging	Het
Birc5	C	A	11: 117,743,507 (GRCm39)	H80Q	probably damaging	Het
Bpifb9a	T	C	2: 154,106,615 (GRCm39)	L382P	probably damaging	Het
Ces2c	A	T	8: 105,576,302 (GRCm39)	N105I	probably benign	Het
Cfap91	A	G	16: 38,141,841 (GRCm39)	S364P	possibly damaging	Het
Cflar	G	A	1: 58,792,956 (GRCm39)	V441M		Het
Ckap4	A	G	10: 84,364,463 (GRCm39)	V200A	probably damaging	Het
Clec16a	C	A	16: 10,462,686 (GRCm39)	T668N	probably damaging	Het
Cntrl	A	C	2: 35,045,421 (GRCm39)	E1376D	possibly damaging	Het
Col18a1	A	T	10: 76,921,044 (GRCm39)		probably null	Het
Coq2	T	C	5: 100,811,452 (GRCm39)	Y179C	probably benign	Het
Cpne6	A	G	14: 55,749,473 (GRCm39)	E11G	probably benign	Het
Cr2	A	C	1: 194,847,565 (GRCm39)		probably null	Het
Csf2rb2	C	T	15: 78,169,491 (GRCm39)	D555N	probably benign	Het
Cyp2j12	A	T	4: 95,990,363 (GRCm39)	V401D	possibly damaging	Het
Dbp	C	T	7: 45,355,127 (GRCm39)	A27V	probably benign	Het
Dll1	C	A	17: 15,595,151 (GRCm39)	R42L	probably benign	Het
Dst	C	A	1: 34,230,439 (GRCm39)	H2677Q	possibly damaging	Het
Efl1	G	T	7: 82,330,675 (GRCm39)	V283F	possibly damaging	Het
Enah	C	T	1: 181,789,470 (GRCm39)	C7Y	unknown	Het
Fam193a	A	T	5: 34,621,460 (GRCm39)	E1139V	possibly damaging	Het
Fbn1	G	A	2: 125,162,879 (GRCm39)	P2136S	possibly damaging	Het
Fggy	T	C	4: 95,485,927 (GRCm39)	V91A	probably damaging	Het
Fn1	T	A	1: 71,630,039 (GRCm39)	D2343V	probably damaging	Het
Galk2	T	C	2: 125,729,781 (GRCm39)	V54A	possibly damaging	Het
Glb1l	T	A	1: 75,179,350 (GRCm39)	Y193F	probably damaging	Het
Gm45861	G	T	8: 28,031,686 (GRCm39)	R867L	unknown	Het
Grin2b	T	C	6: 135,717,947 (GRCm39)	D715G	possibly damaging	Het
Hs3st1	A	G	5: 39,772,310 (GRCm39)	M111T	probably damaging	Het
Idua	A	G	5: 108,829,362 (GRCm39)	T388A	probably benign	Het
Kat14	T	C	2: 144,222,654 (GRCm39)	S136P	possibly damaging	Het
Kif24	A	C	4: 41,394,673 (GRCm39)	C867W	possibly damaging	Het
Klhdc10	T	A	6: 30,447,989 (GRCm39)		probably null	Het
Klra10	A	G	6: 130,257,327 (GRCm39)	V59A	probably damaging	Het
Limk1	T	A	5: 134,698,091 (GRCm39)	I223F	probably damaging	Het
Lrp10	G	A	14: 54,705,913 (GRCm39)	G368S	probably damaging	Het
Lrrc7	T	C	3: 157,891,046 (GRCm39)	R374G	probably benign	Het
Lypd1	T	A	1: 125,801,303 (GRCm39)	M66L	probably benign	Het
Mast4	C	T	13: 102,941,149 (GRCm39)		probably null	Het
Mbp	C	T	18: 82,572,768 (GRCm39)	H155Y	probably damaging	Het
Micu3	G	A	8: 40,788,939 (GRCm39)	C150Y	probably benign	Het
Mras	C	T	9: 99,271,793 (GRCm39)	V174I	probably benign	Het
Mroh1	T	A	15: 76,317,745 (GRCm39)	I827N	probably damaging	Het
Ms4a12	C	A	19: 11,203,026 (GRCm39)	G101*	probably null	Het
Mylk2	A	T	2: 152,754,353 (GRCm39)	K149M	probably damaging	Het
Myom3	T	A	4: 135,528,346 (GRCm39)	L1064I	probably damaging	Het
Naa30	A	G	14: 49,425,144 (GRCm39)	*365W	probably null	Het
Ncoa1	C	T	12: 4,309,307 (GRCm39)	G1330R	probably damaging	Het
Nhlh1	T	A	1: 171,881,846 (GRCm39)	T7S	probably benign	Het
Nipsnap3a	A	G	4: 52,995,882 (GRCm39)	Q110R	probably benign	Het
Nostrin	T	C	2: 69,014,240 (GRCm39)	Y399H	possibly damaging	Het
Nsfl1c	C	A	2: 151,351,431 (GRCm39)	T263K	possibly damaging	Het
Nup153	T	C	13: 46,834,657 (GRCm39)	T1456A	probably damaging	Het
Or14j10	G	T	17: 37,935,276 (GRCm39)	D83E	probably benign	Het
Or1o2	T	C	17: 37,542,871 (GRCm39)	Y130C	probably damaging	Het
Or51e1	T	A	7: 102,358,724 (GRCm39)	I86N	probably damaging	Het
Or52z1	T	A	7: 103,436,879 (GRCm39)	I202F	possibly damaging	Het
Or5g26	T	A	2: 85,494,524 (GRCm39)	M85L	probably benign	Het
Or8d1b	A	T	9: 38,887,500 (GRCm39)	H176L	probably damaging	Het
Pan3	G	A	5: 147,463,491 (GRCm39)		probably null	Het
Pcdhgb2	C	T	18: 37,824,068 (GRCm39)	T353I	probably damaging	Het
Pcif1	A	T	2: 164,730,284 (GRCm39)	H339L	probably damaging	Het
Pcif1	A	G	2: 164,731,550 (GRCm39)	H501R	possibly damaging	Het
Pcnt	T	C	10: 76,225,284 (GRCm39)	H1740R	probably benign	Het
Polr1b	T	A	2: 128,967,583 (GRCm39)	I992N	probably damaging	Het
Ppfia2	C	T	10: 106,763,691 (GRCm39)	T1228M	possibly damaging	Het
Ppp2r5e	A	G	12: 75,509,116 (GRCm39)	F388L	probably damaging	Het
Ptpre	G	T	7: 135,139,803 (GRCm39)	R4L	unknown	Het
Pzp	G	T	6: 128,463,879 (GRCm39)	P1410T	probably damaging	Het
Qrich1	A	C	9: 108,433,675 (GRCm39)	K656T	possibly damaging	Het
Rabep1	C	T	11: 70,808,486 (GRCm39)	P481S	probably damaging	Het
Rgs9	T	A	11: 109,118,094 (GRCm39)	R579W	probably damaging	Het
Rhot1	T	C	11: 80,139,366 (GRCm39)		probably null	Het
Rnf123	T	A	9: 107,947,607 (GRCm39)		probably null	Het
Rreb1	T	G	13: 38,125,545 (GRCm39)	C1284G	probably damaging	Het
Rsph4a	A	G	10: 33,785,289 (GRCm39)	E400G	probably benign	Het
Rufy4	T	A	1: 74,168,493 (GRCm39)		probably null	Het
S100pbp	A	G	4: 129,075,878 (GRCm39)	L149P	probably damaging	Het
Sall3	T	C	18: 81,015,255 (GRCm39)	D891G	probably benign	Het
Scn10a	C	T	9: 119,467,618 (GRCm39)	V841I	probably benign	Het
Scn5a	T	A	9: 119,351,656 (GRCm39)	Y775F	possibly damaging	Het
Sec62	A	T	3: 30,863,945 (GRCm39)		probably null	Het
Slc24a1	A	T	9: 64,856,583 (GRCm39)	M108K	unknown	Het
Spata22	T	A	11: 73,226,816 (GRCm39)		probably null	Het
Spmap2l	A	G	5: 77,208,633 (GRCm39)	H387R	probably damaging	Het
Stk4	A	G	2: 163,928,522 (GRCm39)	N118S	probably benign	Het
Stt3a	A	T	9: 36,659,266 (GRCm39)	S358T	possibly damaging	Het
Tbc1d31	T	A	15: 57,814,391 (GRCm39)	F531I	probably damaging	Het
Tfrc	A	G	16: 32,437,867 (GRCm39)	T307A	probably damaging	Het
Tnpo2	T	C	8: 85,781,651 (GRCm39)	I811T	probably damaging	Het
Ttc23l	T	C	15: 10,533,853 (GRCm39)	Y230C	probably damaging	Het
Ttll13	A	G	7: 79,910,182 (GRCm39)	D775G	probably benign	Het
Ttn	T	C	2: 76,775,273 (GRCm39)	K1969R	unknown	Het
Ube2s	G	A	7: 4,813,435 (GRCm39)	R110*	probably null	Het
Ubxn11	G	A	4: 133,853,540 (GRCm39)	R364Q	probably benign	Het
Unc13d	T	C	11: 115,958,697 (GRCm39)	Q773R	probably benign	Het
Ush2a	T	C	1: 188,285,308 (GRCm39)	V1948A	probably damaging	Het
Vmn1r205	A	T	13: 22,776,931 (GRCm39)	I57N	probably damaging	Het
Vmn2r69	GAAAA	GAAAAA	7: 85,060,768 (GRCm39)		probably null	Het
Vmn2r71	A	T	7: 85,273,297 (GRCm39)	T704S	probably benign	Het
Vmn2r93	T	A	17: 18,533,580 (GRCm39)	S495T	probably benign	Het
Wiz	T	A	17: 32,598,049 (GRCm39)	I102F	probably benign	Het
Zan	A	C	5: 137,464,264 (GRCm39)	L514V	probably damaging	Het
Zfp106	T	A	2: 120,341,008 (GRCm39)	N1857I	probably damaging	Het
Zfp106	A	T	2: 120,376,400 (GRCm39)		probably null	Het
Zfp738	T	C	13: 67,818,474 (GRCm39)	T506A	probably benign	Het
Zfp934	T	C	13: 62,666,517 (GRCm39)	N53S	probably benign	Het

Other mutations in Hltf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00650:Hltf	APN	3	20,159,796 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- AACGTAGGCATGGTGGTAC -3'
(R):5'- TGAGAAGGGGTAATATGTACTTACC -3'

Sequencing Primer
(F):5'- ACTAGATTATAAGTGTAGCTGTCTGC -3'
(R):5'- TAACTGTACATTTTTCAGCTTGCC -3'

Posted On

2019-10-07