Incidental Mutation 'R0364:Rusf1'
ID 30231
Institutional Source Beutler Lab
Gene Symbol Rusf1
Ensembl Gene ENSMUSG00000030780
Gene Name RUS family member 1
Synonyms BC017158
MMRRC Submission 038570-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R0364 (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 127889786 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 1 (R1H)
Ref Sequence ENSEMBL: ENSMUSP00000117520 (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: R144H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033044
Gene: ENSMUSG00000030780
AA Change: R144H

DomainStartEndE-ValueType
Pfam:DUF647 62 301 5.6e-97 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124216
Predicted Effect probably damaging
Transcript: ENSMUST00000126263
AA Change: R144H

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000114673
Gene: ENSMUSG00000030780
AA Change: R144H

DomainStartEndE-ValueType
Pfam:DUF647 61 304 3e-102 PFAM
low complexity region 334 347 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000137677
AA Change: R1H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117520
Gene: ENSMUSG00000030780
AA Change: R1H

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 0.7340 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.3%
Validation Efficiency 99% (86/87)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp7 G A 7: 28,310,553 (GRCm39) probably benign Het
Ano7 A G 1: 93,316,380 (GRCm39) D221G probably benign Het
Arhgef12 A T 9: 42,929,697 (GRCm39) N199K probably damaging Het
Arpc2 A G 1: 74,276,046 (GRCm39) N26S probably null Het
Camta2 G A 11: 70,574,136 (GRCm39) T127I probably damaging Het
Ccdc13 T A 9: 121,627,282 (GRCm39) N665I probably damaging Het
Ccdc178 C T 18: 22,048,119 (GRCm39) R757H probably damaging Het
Cfap52 A C 11: 67,844,436 (GRCm39) I93S possibly damaging Het
Cmklr1 A T 5: 113,752,578 (GRCm39) L141H probably damaging Het
Crybb3 T A 5: 113,223,819 (GRCm39) I197F probably damaging Het
Cryzl1 G A 16: 91,504,155 (GRCm39) P97S probably benign Het
Cubn T C 2: 13,315,318 (GRCm39) probably benign Het
Cyp2d37-ps T C 15: 82,574,253 (GRCm39) noncoding transcript Het
Cyp4a12b C A 4: 115,290,117 (GRCm39) N223K probably benign Het
Dennd2a T C 6: 39,485,233 (GRCm39) T349A probably benign Het
Dnah12 A G 14: 26,445,628 (GRCm39) T730A probably benign Het
Dock5 G A 14: 68,060,129 (GRCm39) probably benign Het
Dync2i1 A G 12: 116,221,097 (GRCm39) probably benign Het
Elac2 A G 11: 64,870,136 (GRCm39) Y67C probably damaging Het
Elmo1 A T 13: 20,748,663 (GRCm39) K503* probably null Het
Endou A T 15: 97,616,854 (GRCm39) probably benign Het
Eng T C 2: 32,569,149 (GRCm39) S559P probably benign Het
Epc2 T A 2: 49,427,145 (GRCm39) V563E possibly damaging Het
Fbxw17 T C 13: 50,586,477 (GRCm39) S40P possibly damaging Het
Flt4 A T 11: 49,527,818 (GRCm39) M924L probably benign Het
Fyb1 A G 15: 6,610,272 (GRCm39) K282E probably damaging Het
Gabpa T A 16: 84,654,275 (GRCm39) N317K possibly damaging Het
Gli3 G T 13: 15,899,349 (GRCm39) G912V probably benign Het
Gm10295 C A 7: 71,000,361 (GRCm39) C73F unknown Het
Gm10382 G T 5: 125,466,728 (GRCm39) probably benign Het
Gp1ba T C 11: 70,531,284 (GRCm39) probably benign Het
Gpr146 G A 5: 139,364,933 (GRCm39) probably benign Het
Grm5 A G 7: 87,723,594 (GRCm39) Y628C probably damaging Het
Hexa A G 9: 59,471,218 (GRCm39) N491D probably benign Het
Hexd T A 11: 121,102,969 (GRCm39) H62Q probably benign Het
Hpx G T 7: 105,245,471 (GRCm39) Q101K probably benign Het
Ino80 G A 2: 119,213,441 (GRCm39) R1249C probably damaging Het
Inpp4b A T 8: 82,723,943 (GRCm39) T492S probably benign Het
Iqgap2 A C 13: 95,867,783 (GRCm39) probably benign Het
Islr2 T C 9: 58,107,027 (GRCm39) T78A possibly damaging Het
Itga9 A G 9: 118,670,210 (GRCm39) T177A probably benign Het
Itpkc A C 7: 26,927,174 (GRCm39) S247A possibly damaging Het
Kirrel1 T C 3: 86,997,106 (GRCm39) Y287C probably damaging Het
Kiz T G 2: 146,784,076 (GRCm39) S536R probably benign Het
Klhl9 T G 4: 88,638,527 (GRCm39) K571N probably benign Het
Kprp A T 3: 92,731,642 (GRCm39) Y469* probably null Het
Ksr1 A T 11: 78,919,851 (GRCm39) probably benign Het
Lrrc37a C T 11: 103,391,466 (GRCm39) V1320I possibly damaging Het
Ltf A T 9: 110,854,235 (GRCm39) N350I probably benign Het
Msl3l2 G A 10: 55,991,947 (GRCm39) R224Q possibly damaging Het
Myh6 A T 14: 55,185,804 (GRCm39) Y1490* probably null Het
Necap1 A G 6: 122,857,728 (GRCm39) probably benign Het
Nf1 A T 11: 79,332,783 (GRCm39) K810* probably null Het
Nkx6-3 A G 8: 23,647,722 (GRCm39) E227G possibly damaging Het
Nlrp1a T A 11: 71,004,830 (GRCm39) probably benign Het
Obscn G A 11: 59,019,107 (GRCm39) A969V probably benign Het
Or11a4 T C 17: 37,536,934 (GRCm39) L306P possibly damaging Het
Or7g32 G A 9: 19,389,268 (GRCm39) Q90* probably null Het
Or8b40 A G 9: 38,027,325 (GRCm39) T78A probably benign Het
Or8k33 A T 2: 86,384,123 (GRCm39) L115Q probably damaging Het
Pcdhb17 C A 18: 37,618,888 (GRCm39) A226E possibly damaging Het
Phldb1 A T 9: 44,610,632 (GRCm39) probably benign Het
Plekha5 G A 6: 140,537,473 (GRCm39) R646K possibly damaging Het
Pon2 G A 6: 5,266,156 (GRCm39) Q288* probably null Het
Prr14 G A 7: 127,073,751 (GRCm39) R205H probably benign Het
Ptpn13 C A 5: 103,681,214 (GRCm39) R805S probably damaging Het
Pyroxd2 A T 19: 42,735,992 (GRCm39) V62D probably damaging Het
Rab37 G T 11: 115,047,790 (GRCm39) C44F probably damaging Het
Rbm44 T C 1: 91,080,069 (GRCm39) S52P probably benign Het
Scn5a T C 9: 119,351,665 (GRCm39) D772G probably damaging Het
Slc7a5 A G 8: 122,611,754 (GRCm39) F425L probably benign Het
Slk T A 19: 47,608,628 (GRCm39) L527* probably null Het
Stpg4 T A 17: 87,697,142 (GRCm39) probably null Het
Taar6 C A 10: 23,861,046 (GRCm39) V167L probably benign Het
Tas2r123 T A 6: 132,824,644 (GRCm39) S180R probably benign Het
Tmc2 C T 2: 130,044,023 (GRCm39) R86W probably benign Het
Tmem200c T A 17: 69,147,543 (GRCm39) V42E probably damaging Het
Trhde T C 10: 114,338,887 (GRCm39) probably benign Het
Tshz1 A T 18: 84,034,249 (GRCm39) I53N probably benign Het
Tshz3 A G 7: 36,469,958 (GRCm39) E649G probably benign Het
Ttll7 C A 3: 146,650,936 (GRCm39) R719S possibly damaging Het
Utp4 T C 8: 107,625,169 (GRCm39) probably benign Het
Vmn1r35 A G 6: 66,655,827 (GRCm39) I281T probably damaging Het
Vps39 T G 2: 120,176,119 (GRCm39) K76T probably damaging Het
Whamm A G 7: 81,243,799 (GRCm39) T674A probably benign Het
Zbtb16 A G 9: 48,654,876 (GRCm39) probably benign Het
Zfp623 T C 15: 75,820,510 (GRCm39) S489P 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
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
R3849:Rusf1 UTSW 7 127,884,380 (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'- GCACACCTCTGCTATATTCCCAGAC -3'
(R):5'- TCAGAGCCCATCTAGCGAAGCTAC -3'

Sequencing Primer
(F):5'- tctgctatattcccagACTTGCATC -3'
(R):5'- AGCTGCTGACCTTAGCATAC -3'
Posted On 2013-04-24