Incidental Mutation 'R7765:Hltf'
ID 598171
Institutional Source Beutler Lab
Gene Symbol Hltf
Ensembl Gene ENSMUSG00000002428
Gene Name helicase-like transcription factor
Synonyms Snf2l3, Smarca3, P113
MMRRC Submission 045821-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7765 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 20111975-20172654 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 20145647 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 488 (F488L)
Ref Sequence ENSEMBL: ENSMUSP00000002502 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002502] [ENSMUST00000143005] [ENSMUST00000145853]
AlphaFold Q6PCN7
Predicted Effect probably benign
Transcript: ENSMUST00000002502
AA Change: F488L

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000002502
Gene: ENSMUSG00000002428
AA Change: F488L

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 probably benign
Transcript: ENSMUST00000143005
AA Change: F488L

PolyPhen 2 Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000116570
Gene: ENSMUSG00000002428
AA Change: F488L

DomainStartEndE-ValueType
HIRAN 60 154 3.78e-29 SMART
DEXDc 236 610 2.36e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000145853
AA Change: F426L

PolyPhen 2 Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000118775
Gene: ENSMUSG00000002428
AA Change: F426L

DomainStartEndE-ValueType
HIRAN 1 92 2.7e-25 SMART
DEXDc 174 548 2.36e-23 SMART
Meta Mutation Damage Score 0.0773 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (62/62)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam2 T C 14: 66,297,345 (GRCm39) E187G probably damaging Het
Adam28 C T 14: 68,846,555 (GRCm39) probably null Het
Ap2a1 G A 7: 44,559,160 (GRCm39) T189M probably damaging Het
Apaf1 A G 10: 90,859,644 (GRCm39) Y845H probably benign Het
Asb14 G T 14: 26,619,718 (GRCm39) V55F probably benign Het
Brap A T 5: 121,800,192 (GRCm39) D71V probably damaging Het
Ccdc93 T G 1: 121,427,042 (GRCm39) F610V probably damaging Het
Cfap46 T G 7: 139,231,480 (GRCm39) D911A Het
Chn2 T C 6: 54,275,137 (GRCm39) probably null Het
Cib3 A G 8: 72,958,269 (GRCm39) F156S probably damaging Het
Csnk2a1-ps3 G A 1: 156,352,354 (GRCm39) G185D possibly damaging Het
Ctif A T 18: 75,738,715 (GRCm39) V164D probably damaging Het
Ddx27 T A 2: 166,869,879 (GRCm39) F405I probably damaging Het
Dnttip2 A G 3: 122,069,594 (GRCm39) T270A probably benign Het
Dst T A 1: 34,314,775 (GRCm39) S4455T probably damaging Het
Efcab8 A G 2: 153,685,110 (GRCm39) K47R Het
Efhd2 T C 4: 141,601,886 (GRCm39) E98G probably damaging Het
Fcmr T A 1: 130,802,025 (GRCm39) L93Q probably damaging Het
Fhdc1 T A 3: 84,351,906 (GRCm39) E1106D probably benign Het
Gcnt1 C T 19: 17,306,723 (GRCm39) G334D probably damaging Het
Hmgxb4 C A 8: 75,727,436 (GRCm39) H140N probably damaging Het
Ifi214 A T 1: 173,352,402 (GRCm39) F342L probably damaging Het
Ip6k1 A G 9: 107,909,288 (GRCm39) D105G possibly damaging Het
Kank1 GCGAACG GCG 19: 25,388,569 (GRCm39) probably null Het
Kif18a G A 2: 109,137,285 (GRCm39) D506N probably benign Het
Klf17 T A 4: 117,617,812 (GRCm39) M182L probably benign Het
Kmt2d A G 15: 98,750,215 (GRCm39) F2493L unknown Het
Lefty1 A G 1: 180,764,112 (GRCm39) E84G probably damaging Het
Lyst T G 13: 13,884,117 (GRCm39) L2975R possibly damaging Het
Magea5 G A X: 153,837,174 (GRCm39) P73S possibly damaging Het
Mctp2 T C 7: 71,740,079 (GRCm39) probably null Het
Mprip C T 11: 59,649,047 (GRCm39) T917M possibly damaging Het
Myh8 T A 11: 67,194,481 (GRCm39) I1564N probably benign Het
Npc1 A T 18: 12,328,105 (GRCm39) M1068K probably benign Het
Nr2e1 A G 10: 42,450,433 (GRCm39) C60R probably benign Het
Nrxn3 A G 12: 89,780,254 (GRCm39) I29V probably benign Het
Ntsr1 T A 2: 180,180,610 (GRCm39) H305Q probably damaging Het
Or2y1e A G 11: 49,218,571 (GRCm39) E111G probably damaging Het
Or8g35 A G 9: 39,381,612 (GRCm39) S137P probably benign Het
Or8h10 T A 2: 86,808,538 (GRCm39) I201F probably damaging Het
Pate2 A C 9: 35,581,197 (GRCm39) E22D probably benign Het
Pcdhb22 A G 18: 37,652,158 (GRCm39) T209A probably damaging Het
Pdss2 C T 10: 43,340,628 (GRCm39) S352F probably benign Het
Pfn3 T A 13: 55,562,900 (GRCm39) D27V probably damaging Het
Pigg T G 5: 108,461,920 (GRCm39) S84A probably benign Het
Prm3 CTCTTCTTCTTCTTC CTCTTCTTCTTC 16: 10,608,565 (GRCm39) probably benign Het
Prss22 C T 17: 24,213,592 (GRCm39) G233E probably damaging Het
Rad51b T C 12: 79,850,044 (GRCm39) probably null Het
Scn10a A G 9: 119,438,970 (GRCm39) V1632A possibly damaging Het
Serpinb3d T G 1: 107,007,512 (GRCm39) D158A probably damaging Het
Sh3yl1 T C 12: 31,008,868 (GRCm39) L266P probably damaging Het
Sidt2 A T 9: 45,852,873 (GRCm39) probably null Het
Stox1 C T 10: 62,501,778 (GRCm39) V261M probably benign Het
Taf7l2 T A 10: 115,949,158 (GRCm39) K123* probably null Het
Tll1 A G 8: 64,504,483 (GRCm39) Y638H probably damaging Het
Tst A T 15: 78,289,816 (GRCm39) M73K possibly damaging Het
Tuba4a C T 1: 75,193,003 (GRCm39) V232M probably benign Het
Unk T A 11: 115,943,908 (GRCm39) V343D probably benign Het
Usf3 T C 16: 44,039,426 (GRCm39) V1302A probably benign Het
Usp32 A T 11: 84,885,234 (GRCm39) L1271H probably damaging Het
Vwa5b2 C T 16: 20,413,361 (GRCm39) P192L probably benign Het
Zfp995 A G 17: 22,100,984 (GRCm39) Y38H probably damaging Het
Other mutations in Hltf
AlleleSourceChrCoordTypePredicted EffectPPH 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
R7453:Hltf UTSW 3 20,136,916 (GRCm39) missense possibly damaging 0.81
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'- AAATGGCCGCTTATTGGTAGGATAG -3'
(R):5'- TGATGATGAACCCTAGAGAAAATCC -3'

Sequencing Primer
(F):5'- TTATGATGTGACACAAATCAG -3'
(R):5'- GCTCTTGCAGAAGACTGAAATTC -3'
Posted On 2019-11-26