Incidental Mutation 'R5910:Rusc1'
ID 460902
Institutional Source Beutler Lab
Gene Symbol Rusc1
Ensembl Gene ENSMUSG00000041263
Gene Name RUN and SH3 domain containing 1
Synonyms 2210403N08Rik
MMRRC Submission 044107-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5910 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 88991288-89000618 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 88999027 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 252 (G252S)
Ref Sequence ENSEMBL: ENSMUSP00000088447 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052539] [ENSMUST00000081848] [ENSMUST00000090929] [ENSMUST00000166687] [ENSMUST00000196043] [ENSMUST00000196223] [ENSMUST00000196254] [ENSMUST00000196709] [ENSMUST00000200659] [ENSMUST00000199668] [ENSMUST00000196921]
AlphaFold Q8BG26
Predicted Effect probably benign
Transcript: ENSMUST00000052539
AA Change: G252S

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000056640
Gene: ENSMUSG00000041263
AA Change: G252S

DomainStartEndE-ValueType
low complexity region 95 117 N/A INTRINSIC
low complexity region 149 165 N/A INTRINSIC
low complexity region 374 383 N/A INTRINSIC
low complexity region 389 402 N/A INTRINSIC
low complexity region 429 440 N/A INTRINSIC
low complexity region 577 588 N/A INTRINSIC
RUN 589 657 2.75e-16 SMART
low complexity region 669 683 N/A INTRINSIC
low complexity region 702 714 N/A INTRINSIC
low complexity region 753 770 N/A INTRINSIC
SH3 838 893 4.32e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000081848
SMART Domains Protein: ENSMUSP00000080531
Gene: ENSMUSG00000059743

DomainStartEndE-ValueType
Pfam:polyprenyl_synt 47 313 2e-82 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000090929
AA Change: G252S

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000088447
Gene: ENSMUSG00000041263
AA Change: G252S

DomainStartEndE-ValueType
low complexity region 95 117 N/A INTRINSIC
low complexity region 149 165 N/A INTRINSIC
internal_repeat_1 195 244 5.11e-5 PROSPERO
internal_repeat_1 247 292 5.11e-5 PROSPERO
low complexity region 374 383 N/A INTRINSIC
low complexity region 389 402 N/A INTRINSIC
low complexity region 429 440 N/A INTRINSIC
low complexity region 463 479 N/A INTRINSIC
low complexity region 522 543 N/A INTRINSIC
low complexity region 546 584 N/A INTRINSIC
low complexity region 714 725 N/A INTRINSIC
RUN 726 794 2.75e-16 SMART
low complexity region 806 820 N/A INTRINSIC
low complexity region 839 851 N/A INTRINSIC
low complexity region 890 907 N/A INTRINSIC
SH3 975 1030 4.32e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000166687
SMART Domains Protein: ENSMUSP00000130477
Gene: ENSMUSG00000041263

DomainStartEndE-ValueType
low complexity region 115 126 N/A INTRINSIC
RUN 127 195 2.75e-16 SMART
low complexity region 207 221 N/A INTRINSIC
low complexity region 240 252 N/A INTRINSIC
low complexity region 291 308 N/A INTRINSIC
SH3 376 431 4.32e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000196043
SMART Domains Protein: ENSMUSP00000142622
Gene: ENSMUSG00000041263

DomainStartEndE-ValueType
PDB:4GIW|B 8 79 5e-45 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000196223
SMART Domains Protein: ENSMUSP00000143662
Gene: ENSMUSG00000041263

DomainStartEndE-ValueType
Pfam:RUN 61 166 2.1e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200433
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200357
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198506
Predicted Effect probably benign
Transcript: ENSMUST00000196254
SMART Domains Protein: ENSMUSP00000142669
Gene: ENSMUSG00000059743

DomainStartEndE-ValueType
Pfam:polyprenyl_synt 1 238 3.6e-60 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196709
SMART Domains Protein: ENSMUSP00000142770
Gene: ENSMUSG00000059743

DomainStartEndE-ValueType
Pfam:polyprenyl_synt 44 316 8.7e-84 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000200659
SMART Domains Protein: ENSMUSP00000142694
Gene: ENSMUSG00000105204

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:polyprenyl_synt 111 334 3.2e-55 PFAM
low complexity region 548 559 N/A INTRINSIC
RUN 560 628 9.3e-19 SMART
low complexity region 640 654 N/A INTRINSIC
low complexity region 673 685 N/A INTRINSIC
low complexity region 724 741 N/A INTRINSIC
SH3 809 862 2.8e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000199668
SMART Domains Protein: ENSMUSP00000142393
Gene: ENSMUSG00000059743

DomainStartEndE-ValueType
Pfam:polyprenyl_synt 44 121 3.2e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196921
SMART Domains Protein: ENSMUSP00000142704
Gene: ENSMUSG00000059743

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:polyprenyl_synt 111 226 7.9e-30 PFAM
Meta Mutation Damage Score 0.0996 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.0%
  • 20x: 90.5%
Validation Efficiency 95% (93/98)
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,645,076 (GRCm39) N976D probably damaging Het
Adamts1 G A 16: 85,599,037 (GRCm39) R188W probably benign Het
Adcy4 A T 14: 56,016,470 (GRCm39) V327D probably damaging Het
Alg8 T C 7: 97,039,493 (GRCm39) I408T possibly damaging Het
Ankib1 T C 5: 3,743,217 (GRCm39) S933G probably benign Het
Ap2a2 A G 7: 141,178,691 (GRCm39) D106G probably damaging Het
Arhgap22 A T 14: 33,088,572 (GRCm39) H351L probably damaging Het
Arhgef2 A G 3: 88,542,327 (GRCm39) Y310C probably damaging Het
Atm A T 9: 53,359,380 (GRCm39) S2804R probably damaging Het
Baz2b A G 2: 59,807,770 (GRCm39) L163P possibly damaging Het
Bcl2l12 C T 7: 44,645,967 (GRCm39) probably null Het
Cdh23 A G 10: 60,213,600 (GRCm39) V1495A possibly damaging Het
Cep78 A G 19: 15,946,492 (GRCm39) S447P possibly damaging Het
Cfap43 G A 19: 47,768,710 (GRCm39) T778I possibly damaging Het
Cfap54 A T 10: 92,901,043 (GRCm39) N170K probably damaging Het
Cmya5 A T 13: 93,229,151 (GRCm39) L1979Q probably damaging Het
Col15a1 A T 4: 47,289,514 (GRCm39) E846D probably damaging Het
Col5a1 A G 2: 27,926,900 (GRCm39) K308E possibly damaging Het
Dcst1 T A 3: 89,257,731 (GRCm39) T680S possibly damaging Het
Dsp T C 13: 38,376,445 (GRCm39) L1410P possibly damaging Het
Edem3 T A 1: 151,646,578 (GRCm39) probably null Het
Efcab3 A T 11: 104,581,760 (GRCm39) E34V probably benign Het
Eif4e2 T A 1: 87,148,696 (GRCm39) Y64N probably damaging Het
Fcgbp C T 7: 27,784,928 (GRCm39) probably benign Het
Gm7275 A T 16: 47,893,826 (GRCm39) noncoding transcript Het
Grin3b G T 10: 79,808,855 (GRCm39) V202L probably benign Het
Gsdmc4 G A 15: 63,767,101 (GRCm39) S223F possibly damaging Het
H2bc14 A G 13: 21,906,470 (GRCm39) N68S probably benign Het
Hbp1 T C 12: 31,987,651 (GRCm39) H183R probably benign Het
Hectd3 A G 4: 116,859,331 (GRCm39) M652V probably benign Het
Hmgxb4 T C 8: 75,726,193 (GRCm39) F13L probably benign Het
Hnrnpab T C 11: 51,492,281 (GRCm39) K271R probably benign Het
Ilvbl A T 10: 78,412,947 (GRCm39) K156N probably benign Het
Iqce A T 5: 140,687,973 (GRCm39) probably benign Het
Itpr2 C A 6: 146,231,069 (GRCm39) V1194L probably benign Het
Kif18b A G 11: 102,804,370 (GRCm39) F384L probably benign Het
Klf14 A G 6: 30,934,774 (GRCm39) Y287H probably benign Het
Klhl6 A G 16: 19,775,844 (GRCm39) M238T probably benign Het
Lbp G A 2: 158,166,477 (GRCm39) V344I probably benign Het
Lrp12 T C 15: 39,739,439 (GRCm39) probably null Het
Mapk7 T A 11: 61,384,447 (GRCm39) M1L probably benign Het
Muc5b A G 7: 141,415,048 (GRCm39) T2665A possibly damaging Het
Ncln A T 10: 81,331,912 (GRCm39) probably null Het
Nfxl1 T C 5: 72,697,708 (GRCm39) R347G probably benign Het
Npnt C A 3: 132,612,179 (GRCm39) C231F probably damaging Het
Nrap T A 19: 56,330,743 (GRCm39) H1070L probably benign Het
Nrxn1 G T 17: 91,011,746 (GRCm39) Y294* probably null Het
Or4c126 A G 2: 89,823,782 (GRCm39) D15G probably benign Het
Or9s27 T C 1: 92,516,429 (GRCm39) Y126H probably damaging Het
Otog A G 7: 45,948,022 (GRCm39) H2341R possibly damaging Het
Paqr3 T C 5: 97,243,887 (GRCm39) probably null Het
Pcdhb11 T C 18: 37,556,796 (GRCm39) F709L probably benign Het
Phf12 G A 11: 77,918,224 (GRCm39) R812Q probably damaging Het
Polr2a A T 11: 69,637,696 (GRCm39) L216Q probably damaging Het
Polrmt A G 10: 79,579,331 (GRCm39) L140P probably benign Het
Pou2f3 C T 9: 43,045,769 (GRCm39) probably null Het
Prkcd A T 14: 30,317,938 (GRCm39) N548K probably benign Het
Pygb A G 2: 150,657,620 (GRCm39) D361G probably benign Het
Rpl9 A T 5: 65,546,044 (GRCm39) probably benign Het
Rubcnl A T 14: 75,272,912 (GRCm39) T211S probably benign Het
Scnn1g A G 7: 121,337,318 (GRCm39) T60A probably damaging Het
Sipa1l2 T G 8: 126,218,423 (GRCm39) T305P probably benign Het
Slc18b1 T A 10: 23,700,565 (GRCm39) probably benign Het
Sp100 G A 1: 85,608,861 (GRCm39) probably null Het
Tekt5 A T 16: 10,205,017 (GRCm39) probably null Het
Tlnrd1 T A 7: 83,533,693 (GRCm39) probably benign Het
Tpcn1 A G 5: 120,685,462 (GRCm39) probably benign Het
Tpcn2 T C 7: 144,814,719 (GRCm39) I461V probably benign Het
Traf3ip1 A G 1: 91,455,467 (GRCm39) K643E probably damaging Het
Trim33 T C 3: 103,251,892 (GRCm39) C914R probably damaging Het
Trip11 G A 12: 101,849,738 (GRCm39) T1442I probably damaging Het
Ttll6 A G 11: 96,026,415 (GRCm39) M107V possibly damaging Het
Uap1l1 A G 2: 25,253,445 (GRCm39) probably benign Het
Ube3b T A 5: 114,553,370 (GRCm39) I914N possibly damaging Het
Usp24 A G 4: 106,237,665 (GRCm39) T1107A probably damaging Het
Usp40 A T 1: 87,896,122 (GRCm39) C811* probably null Het
Vps11 T C 9: 44,270,432 (GRCm39) probably null Het
Wdr91 A T 6: 34,868,422 (GRCm39) I433N possibly damaging Het
Zfp770 G C 2: 114,026,713 (GRCm39) S452* probably null Het
Other mutations in Rusc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01395:Rusc1 APN 3 88,999,728 (GRCm39) missense probably damaging 0.99
IGL02795:Rusc1 APN 3 88,999,257 (GRCm39) missense probably damaging 1.00
IGL03174:Rusc1 APN 3 88,999,077 (GRCm39) missense probably damaging 1.00
R0422:Rusc1 UTSW 3 88,994,132 (GRCm39) missense probably benign 0.01
R1711:Rusc1 UTSW 3 88,996,600 (GRCm39) missense probably damaging 1.00
R1846:Rusc1 UTSW 3 88,999,452 (GRCm39) missense probably damaging 1.00
R2060:Rusc1 UTSW 3 88,995,155 (GRCm39) missense possibly damaging 0.86
R2114:Rusc1 UTSW 3 88,999,014 (GRCm39) missense probably benign
R2209:Rusc1 UTSW 3 88,996,128 (GRCm39) missense probably damaging 1.00
R3081:Rusc1 UTSW 3 88,999,030 (GRCm39) missense possibly damaging 0.84
R3155:Rusc1 UTSW 3 88,999,038 (GRCm39) missense probably benign 0.03
R3156:Rusc1 UTSW 3 88,999,038 (GRCm39) missense probably benign 0.03
R4499:Rusc1 UTSW 3 88,999,615 (GRCm39) missense probably benign 0.02
R4678:Rusc1 UTSW 3 88,997,027 (GRCm39) missense probably damaging 1.00
R4725:Rusc1 UTSW 3 88,998,736 (GRCm39) missense possibly damaging 0.83
R4762:Rusc1 UTSW 3 88,998,949 (GRCm39) missense probably benign
R4890:Rusc1 UTSW 3 88,995,577 (GRCm39) critical splice acceptor site probably null
R5176:Rusc1 UTSW 3 88,996,389 (GRCm39) missense probably damaging 1.00
R5783:Rusc1 UTSW 3 88,995,452 (GRCm39) missense probably damaging 1.00
R6189:Rusc1 UTSW 3 88,996,319 (GRCm39) missense probably damaging 1.00
R6190:Rusc1 UTSW 3 88,999,188 (GRCm39) missense probably benign
R6227:Rusc1 UTSW 3 88,999,048 (GRCm39) missense probably benign 0.06
R7087:Rusc1 UTSW 3 88,996,799 (GRCm39) missense probably damaging 0.96
R7184:Rusc1 UTSW 3 88,999,194 (GRCm39) missense possibly damaging 0.61
R7237:Rusc1 UTSW 3 88,998,805 (GRCm39) missense possibly damaging 0.66
R7343:Rusc1 UTSW 3 88,999,057 (GRCm39) missense probably damaging 0.99
R8120:Rusc1 UTSW 3 88,996,513 (GRCm39) missense probably damaging 0.99
R8802:Rusc1 UTSW 3 88,999,540 (GRCm39) missense probably benign
R8939:Rusc1 UTSW 3 88,995,337 (GRCm39) missense probably benign 0.14
R8960:Rusc1 UTSW 3 88,991,865 (GRCm39) missense probably damaging 0.99
R8992:Rusc1 UTSW 3 88,999,365 (GRCm39) missense probably benign 0.11
R9056:Rusc1 UTSW 3 88,996,990 (GRCm39) missense probably damaging 0.96
R9483:Rusc1 UTSW 3 88,994,113 (GRCm39) missense probably benign 0.00
R9541:Rusc1 UTSW 3 88,998,922 (GRCm39) missense possibly damaging 0.78
R9734:Rusc1 UTSW 3 88,996,496 (GRCm39) missense probably damaging 0.96
Z1177:Rusc1 UTSW 3 88,996,340 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GCTCATGGAAGGACGTGATTG -3'
(R):5'- ACCTGGACTCGAACTGCAAC -3'

Sequencing Primer
(F):5'- ACGTGATTGTCCGATGGGGC -3'
(R):5'- TCGAACTGCAACGCCCTG -3'
Posted On 2017-02-28