Incidental Mutation 'IGL02950:Hltf'
ID364917
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hltf
Ensembl Gene ENSMUSG00000002428
Gene Namehelicase-like transcription factor
SynonymsP113, Snf2l3, Smarca3
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02950
Quality Score
Status
Chromosome3
Chromosomal Location20057811-20118490 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 20076572 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 318 (V318D)
Ref Sequence ENSEMBL: ENSMUSP00000118775 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002502] [ENSMUST00000143005] [ENSMUST00000145853]
Predicted Effect probably benign
Transcript: ENSMUST00000002502
AA Change: V380D

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000002502
Gene: ENSMUSG00000002428
AA Change: V380D

DomainStartEndE-ValueType
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
AA Change: V380D

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000116570
Gene: ENSMUSG00000002428
AA Change: V380D

DomainStartEndE-ValueType
HIRAN 60 154 3.78e-29 SMART
DEXDc 236 610 2.36e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000145853
AA Change: V318D

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000118775
Gene: ENSMUSG00000002428
AA Change: V318D

DomainStartEndE-ValueType
HIRAN 1 92 2.7e-25 SMART
DEXDc 174 548 2.36e-23 SMART
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A T 19: 43,825,967 S1129C possibly damaging Het
Afm A T 5: 90,531,607 D320V probably damaging Het
Ap5m1 C T 14: 49,073,935 T154I probably benign Het
Bcl11b G A 12: 107,989,806 T28I probably benign Het
Bhlhe40 G T 6: 108,664,542 C149F probably damaging Het
Bmper A T 9: 23,399,494 D408V probably damaging Het
C1rl G A 6: 124,508,861 C397Y probably damaging Het
C2cd4c A G 10: 79,612,831 S161P probably damaging Het
C87977 A G 4: 144,212,961 V2A probably benign Het
Cep290 T C 10: 100,540,329 probably benign Het
Cp T C 3: 19,988,001 Y978H probably damaging Het
Csf2ra T C 19: 61,227,169 D37G probably benign Het
Ddx24 A G 12: 103,417,542 V596A probably damaging Het
Dnmt3l A G 10: 78,050,951 S82G probably benign Het
Dock1 A G 7: 134,730,024 Y46C probably damaging Het
Eno2 A T 6: 124,763,118 D318E probably damaging Het
Gm43738 A C 3: 89,089,048 L120R probably damaging Het
Hgsnat C A 8: 25,971,701 C29F probably damaging Het
Kcnh8 A G 17: 52,956,767 H764R probably benign Het
Kcnq3 A G 15: 66,020,293 F411S probably benign Het
Lpcat4 C A 2: 112,244,042 N287K possibly damaging Het
Ltbp4 A C 7: 27,306,718 F1512V probably damaging Het
Mctp1 A T 13: 77,024,810 L868F probably damaging Het
Mdn1 T C 4: 32,713,360 probably benign Het
Olfr1000 A T 2: 85,608,157 L251Q possibly damaging Het
Otub2 A G 12: 103,403,373 D237G probably damaging Het
Pax3 A G 1: 78,103,360 V463A probably benign Het
Podn T C 4: 108,017,851 K573R possibly damaging Het
Ppp5c A C 7: 17,006,910 S378A probably benign Het
Prl2a1 T A 13: 27,804,931 L13Q probably damaging Het
Ptgir A G 7: 16,907,601 T70A probably damaging Het
Ralyl C A 3: 14,039,721 N15K probably damaging Het
Rbck1 C T 2: 152,331,077 R17Q possibly damaging Het
Ryr1 A G 7: 29,097,459 Y973H probably damaging Het
Sh2d6 A G 6: 72,515,302 V260A probably damaging Het
Spen G A 4: 141,469,508 P3559S probably damaging Het
Tbcd T A 11: 121,603,709 V1032D probably damaging Het
Tmem2 A T 19: 21,842,200 K1118N probably benign Het
Trav12-1 T A 14: 53,538,567 V59E probably damaging Het
Unc93a T A 17: 13,125,568 Q29L probably damaging Het
Zzef1 A G 11: 72,917,699 probably benign Het
Other mutations in Hltf
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 intron 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
X0027:Hltf UTSW 3 20067389 missense probably damaging 0.96
Posted On2015-12-18