Incidental Mutation 'R3849:Rusf1'
ID 275820
Institutional Source Beutler Lab
Gene Symbol Rusf1
Ensembl Gene ENSMUSG00000030780
Gene Name RUS family member 1
Synonyms BC017158
MMRRC Submission 040897-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R3849 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 127870551-127897303 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 127884380 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 201 (V201I)
Ref Sequence ENSEMBL: ENSMUSP00000033044 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033044] [ENSMUST00000126263] [ENSMUST00000137677]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000033044
AA Change: V201I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033044
Gene: ENSMUSG00000030780
AA Change: V201I

DomainStartEndE-ValueType
Pfam:DUF647 62 301 5.6e-97 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124216
Predicted Effect probably damaging
Transcript: ENSMUST00000126263
AA Change: V201I

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000114673
Gene: ENSMUSG00000030780
AA Change: V201I

DomainStartEndE-ValueType
Pfam:DUF647 61 304 3e-102 PFAM
low complexity region 334 347 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000137677
SMART Domains Protein: ENSMUSP00000117520
Gene: ENSMUSG00000030780

DomainStartEndE-ValueType
Pfam:DUF647 1 64 4.6e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139452
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154003
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155177
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175474
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.1%
Validation Efficiency 100% (52/52)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a putative transmembrane protein containing a conserved DUF647 domain that may be involved in protein-protein interaction. The encoded protein is related to a plant protein that participates in ultraviolet B light-sensing during root morphogenesis. [provided by RefSeq, Feb 2013]
Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430038I01Rik A T 7: 136,978,069 (GRCm39) N102K possibly damaging Het
Abca1 C T 4: 53,061,481 (GRCm39) probably benign Het
Adamts17 T A 7: 66,490,215 (GRCm39) L99Q possibly damaging Het
Adamtsl1 A T 4: 86,336,783 (GRCm39) Q1564L probably damaging Het
Aspm T A 1: 139,386,024 (GRCm39) V556E probably benign Het
Axin1 T A 17: 26,406,771 (GRCm39) Y455N probably benign Het
Cacna2d3 A G 14: 29,069,077 (GRCm39) probably null Het
Car8 T A 4: 8,189,353 (GRCm39) I154F probably benign Het
Ccl27a T A 4: 41,773,232 (GRCm39) T76S probably benign Het
Cep170 G A 1: 176,583,409 (GRCm39) A990V probably benign Het
Chd1 A T 17: 15,952,133 (GRCm39) T291S probably damaging Het
Col3a1 C A 1: 45,361,150 (GRCm39) P112T unknown Het
Cpa4 T C 6: 30,590,872 (GRCm39) F390S probably damaging Het
Cul5 T G 9: 53,529,286 (GRCm39) M800L probably benign Het
Dst C T 1: 34,251,400 (GRCm39) S4165F probably damaging Het
Dusp8 T C 7: 141,643,802 (GRCm39) E37G probably damaging Het
Efr3b T C 12: 4,033,414 (GRCm39) N131S probably benign Het
Fan1 T C 7: 64,022,119 (GRCm39) Y378C probably damaging Het
Fcgr2b T C 1: 170,795,704 (GRCm39) N75S possibly damaging Het
Foxp4 A G 17: 48,186,453 (GRCm39) I442T unknown Het
Gp9 A G 6: 87,756,133 (GRCm39) I49M probably benign Het
Grip1 G A 10: 119,765,863 (GRCm39) G65D probably damaging Het
Hoxc10 T C 15: 102,875,879 (GRCm39) V196A probably benign Het
Hpx A G 7: 105,245,498 (GRCm39) C92R probably damaging Het
Ighv1-22 A G 12: 114,710,301 (GRCm39) F9S possibly damaging Het
Kif24 C T 4: 41,404,734 (GRCm39) R422H probably damaging Het
Klk1b1 T C 7: 43,618,751 (GRCm39) Y43H probably damaging Het
Lmo7 A G 14: 102,159,531 (GRCm39) probably null Het
Lrguk A G 6: 34,050,703 (GRCm39) D387G probably damaging Het
Lysmd1 G A 3: 95,045,772 (GRCm39) G203D probably damaging Het
Mpnd T C 17: 56,318,692 (GRCm39) S150P probably damaging Het
Mrc2 T C 11: 105,183,729 (GRCm39) probably null Het
Mtr A G 13: 12,262,251 (GRCm39) S152P probably benign Het
Naip2 A T 13: 100,315,940 (GRCm39) L280Q probably damaging Het
Naip2 G C 13: 100,315,941 (GRCm39) L280V probably damaging Het
Ndufa13 T C 8: 70,354,260 (GRCm39) D9G probably damaging Het
Nek1 T A 8: 61,525,349 (GRCm39) F596I probably damaging Het
Nsd1 A G 13: 55,394,504 (GRCm39) T702A probably benign Het
Or7d10 A T 9: 19,832,105 (GRCm39) Y200F probably damaging Het
Pam T A 1: 97,782,481 (GRCm39) probably benign Het
Plxna1 C A 6: 89,333,501 (GRCm39) R376L probably damaging Het
Plxnc1 A G 10: 94,630,294 (GRCm39) V1535A probably benign Het
Prdx5 A G 19: 6,884,218 (GRCm39) L166P probably damaging Het
Prol1 A T 5: 88,476,476 (GRCm39) I289F unknown Het
Prss23 T C 7: 89,158,959 (GRCm39) Y370C probably damaging Het
Rimbp3 A T 16: 17,028,163 (GRCm39) H529L probably benign Het
Rnase2b T A 14: 51,400,205 (GRCm39) H95Q probably damaging Het
Rnf103 C G 6: 71,485,859 (GRCm39) C163W probably damaging Het
Rnf17 T C 14: 56,749,753 (GRCm39) V1433A probably damaging Het
Syne2 C T 12: 76,092,839 (GRCm39) Q5150* probably null Het
Tas2r110 T A 6: 132,845,638 (GRCm39) I223N probably damaging Het
Tead2 T A 7: 44,881,752 (GRCm39) probably null Het
Vwa3a A T 7: 120,361,687 (GRCm39) K133* probably null Het
Vwce T C 19: 10,624,269 (GRCm39) S387P probably damaging Het
Zbtb41 T A 1: 139,351,734 (GRCm39) H282Q probably benign Het
Other mutations in Rusf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02451:Rusf1 APN 7 127,875,582 (GRCm39) missense probably damaging 1.00
IGL02527:Rusf1 APN 7 127,875,403 (GRCm39) missense possibly damaging 0.92
IGL02572:Rusf1 APN 7 127,889,752 (GRCm39) splice site probably benign
3-1:Rusf1 UTSW 7 127,875,301 (GRCm39) missense possibly damaging 0.87
PIT4445001:Rusf1 UTSW 7 127,875,706 (GRCm39) missense probably benign 0.15
R0364:Rusf1 UTSW 7 127,889,786 (GRCm39) missense probably damaging 1.00
R0590:Rusf1 UTSW 7 127,896,642 (GRCm39) missense probably damaging 1.00
R0616:Rusf1 UTSW 7 127,871,803 (GRCm39) splice site probably null
R2060:Rusf1 UTSW 7 127,887,503 (GRCm39) missense probably damaging 1.00
R4487:Rusf1 UTSW 7 127,887,530 (GRCm39) missense probably damaging 1.00
R4510:Rusf1 UTSW 7 127,875,312 (GRCm39) missense probably damaging 0.99
R4511:Rusf1 UTSW 7 127,875,312 (GRCm39) missense probably damaging 0.99
R4708:Rusf1 UTSW 7 127,873,852 (GRCm39) missense probably benign 0.00
R4793:Rusf1 UTSW 7 127,887,374 (GRCm39) intron probably benign
R4983:Rusf1 UTSW 7 127,875,645 (GRCm39) unclassified probably benign
R5502:Rusf1 UTSW 7 127,884,308 (GRCm39) missense probably damaging 1.00
R6181:Rusf1 UTSW 7 127,896,632 (GRCm39) critical splice donor site probably null
R6312:Rusf1 UTSW 7 127,872,715 (GRCm39) missense probably benign 0.02
R7898:Rusf1 UTSW 7 127,897,177 (GRCm39) missense probably benign 0.08
R8322:Rusf1 UTSW 7 127,889,786 (GRCm39) missense probably damaging 1.00
R8953:Rusf1 UTSW 7 127,872,678 (GRCm39) missense probably benign 0.01
R9600:Rusf1 UTSW 7 127,875,676 (GRCm39) missense possibly damaging 0.81
Predicted Primers PCR Primer
(F):5'- TGTACTTCTAAACTGTGGCGAG -3'
(R):5'- TCACAGGGTAATAATGGCTGG -3'

Sequencing Primer
(F):5'- TTCTAAACTGTGGCGAGCCCTG -3'
(R):5'- TAATAATGGCTGGCGAGACTTCCC -3'
Posted On 2015-04-06