Incidental Mutation 'R9483:Rusc1'
ID 716344
Institutional Source Beutler Lab
Gene Symbol Rusc1
Ensembl Gene ENSMUSG00000041263
Gene Name RUN and SH3 domain containing 1
Synonyms 2210403N08Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9483 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 88991288-89000618 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 88994113 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 964 (V964E)
Ref Sequence ENSEMBL: ENSMUSP00000088447 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052539] [ENSMUST00000090929] [ENSMUST00000166687] [ENSMUST00000196043] [ENSMUST00000196223] [ENSMUST00000200659]
AlphaFold Q8BG26
Predicted Effect probably benign
Transcript: ENSMUST00000052539
AA Change: V827E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000056640
Gene: ENSMUSG00000041263
AA Change: V827E

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: ENSMUST00000090929
AA Change: V964E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000088447
Gene: ENSMUSG00000041263
AA Change: V964E

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
AA Change: V365E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000130477
Gene: ENSMUSG00000041263
AA Change: V365E

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 possibly damaging
Transcript: ENSMUST00000200659
AA Change: V798E

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000142694
Gene: ENSMUSG00000105204
AA Change: V798E

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik A T 5: 113,339,010 (GRCm39) M334K probably benign Het
Abca1 A T 4: 53,060,351 (GRCm39) I1525N probably benign Het
Abca4 A T 3: 121,879,275 (GRCm39) I398F Het
Acbd3 A G 1: 180,572,721 (GRCm39) D327G probably benign Het
Acsm3 A G 7: 119,383,166 (GRCm39) T544A probably damaging Het
Atp11a C T 8: 12,901,087 (GRCm39) T972M probably damaging Het
Cbfb C T 8: 105,929,123 (GRCm39) R147* probably null Het
Ccdc17 G T 4: 116,454,144 (GRCm39) R54L probably benign Het
Cracdl T G 1: 37,670,496 (GRCm39) E148A probably damaging Het
Cuedc2 G T 19: 46,319,399 (GRCm39) A223E probably benign Het
Cul5 T C 9: 53,532,474 (GRCm39) I787V probably benign Het
D430041D05Rik T A 2: 104,087,563 (GRCm39) H471L probably benign Het
Ddx39a T C 8: 84,448,916 (GRCm39) Y264H probably benign Het
Dlgap3 C A 4: 127,127,665 (GRCm39) R778S probably damaging Het
Esrrg T C 1: 187,930,848 (GRCm39) V313A probably damaging Het
Fam124a T C 14: 62,844,100 (GRCm39) I536T probably damaging Het
Fbxo21 T C 5: 118,127,272 (GRCm39) F275L possibly damaging Het
Gabrg1 C A 5: 70,999,558 (GRCm39) G2V possibly damaging Het
Gcc1 G T 6: 28,418,089 (GRCm39) A748D probably damaging Het
Gjb6 T C 14: 57,361,511 (GRCm39) D250G probably benign Het
Gm44501 A T 17: 40,889,872 (GRCm39) K129* probably null Het
Hmcn2 T G 2: 31,320,375 (GRCm39) L3952R Het
Hpd A G 5: 123,312,535 (GRCm39) I278T probably damaging Het
Igsf3 T A 3: 101,346,904 (GRCm39) F613Y probably damaging Het
Igsf3 T C 3: 101,346,817 (GRCm39) F584S probably damaging Het
Ik A G 18: 36,886,635 (GRCm39) D369G probably benign Het
Ikbke A G 1: 131,198,719 (GRCm39) L365P probably damaging Het
Il22ra2 A T 10: 19,508,542 (GRCm39) Q190L possibly damaging Het
Itga6 T C 2: 71,679,834 (GRCm39) V1033A probably benign Het
Kif18a T C 2: 109,120,032 (GRCm39) Y112H probably damaging Het
Krt75 T C 15: 101,482,238 (GRCm39) H10R probably benign Het
L3mbtl1 T A 2: 162,790,734 (GRCm39) L93H probably benign Het
Lrfn1 G A 7: 28,158,183 (GRCm39) C34Y probably damaging Het
Lrrc47 A T 4: 154,101,920 (GRCm39) I396F probably damaging Het
Mgat3 T A 15: 80,095,641 (GRCm39) V156E probably benign Het
Mtus2 A G 5: 148,232,300 (GRCm39) D1120G possibly damaging Het
Muc5ac G T 7: 141,365,465 (GRCm39) E2700* probably null Het
Nxpe5 A T 5: 138,228,591 (GRCm39) probably benign Het
Or51v15-ps1 T C 7: 103,278,931 (GRCm39) T79A probably damaging Het
Or5aq6 A T 2: 86,923,390 (GRCm39) M117K possibly damaging Het
Pcdhga4 T A 18: 37,819,746 (GRCm39) S432T possibly damaging Het
Pdk4 T A 6: 5,486,716 (GRCm39) M353L probably benign Het
Ppp1r13b T A 12: 111,800,210 (GRCm39) K645N probably benign Het
Ppt1 A T 4: 122,751,367 (GRCm39) D288V possibly damaging Het
Prkcb A G 7: 122,181,663 (GRCm39) Y417C probably damaging Het
Prss22 A G 17: 24,215,721 (GRCm39) I67T probably damaging Het
Rab29 T C 1: 131,795,508 (GRCm39) V40A possibly damaging Het
Rae1 T C 2: 172,849,941 (GRCm39) probably null Het
Rasa3 C T 8: 13,630,033 (GRCm39) probably null Het
Rasgrp3 A G 17: 75,807,717 (GRCm39) D258G probably benign Het
Rcc1 T A 4: 132,062,808 (GRCm39) T208S probably benign Het
Rgs3 C A 4: 62,575,354 (GRCm39) Y580* probably null Het
Rpe65 C T 3: 159,328,318 (GRCm39) P405S probably damaging Het
Rsf1 GGCGGC GGCGGCGGCAGCGGC 7: 97,229,137 (GRCm39) probably benign Het
Rsph4a A G 10: 33,790,418 (GRCm39) E669G probably damaging Het
Rusc2 A G 4: 43,415,897 (GRCm39) N401S probably damaging Het
Slc10a1 G T 12: 81,002,864 (GRCm39) T258K probably damaging Het
Slc5a9 A G 4: 111,747,418 (GRCm39) L323P probably damaging Het
Slc6a17 T A 3: 107,378,772 (GRCm39) I637F possibly damaging Het
Slc8a2 A G 7: 15,886,780 (GRCm39) E641G possibly damaging Het
Sptbn2 G T 19: 4,789,974 (GRCm39) A1321S probably damaging Het
Ssh2 G T 11: 77,283,976 (GRCm39) A77S possibly damaging Het
St13 G T 15: 81,250,587 (GRCm39) N316K probably damaging Het
Taf10 A G 7: 105,393,062 (GRCm39) M121T probably benign Het
Tcta T C 9: 108,182,942 (GRCm39) T68A probably damaging Het
Timd2 A T 11: 46,577,889 (GRCm39) Y81N probably damaging Het
Tln2 T C 9: 67,299,769 (GRCm39) E161G probably damaging Het
Tmed10 T C 12: 85,397,621 (GRCm39) I123V probably benign Het
Ttf1 T C 2: 28,969,492 (GRCm39) probably null Het
Tubg1 A G 11: 101,016,886 (GRCm39) D396G probably damaging Het
Uhmk1 A G 1: 170,034,913 (GRCm39) probably null Het
Unc13a C T 8: 72,103,221 (GRCm39) A922T probably benign Het
Usp24 T A 4: 106,219,379 (GRCm39) V525E probably damaging Het
Usp28 C A 9: 48,947,037 (GRCm39) Q823K probably damaging Het
Vldlr A T 19: 27,224,031 (GRCm39) I764F probably benign Het
Vmn2r88 T C 14: 51,648,641 (GRCm39) Y62H Het
Zfp423 T A 8: 88,507,725 (GRCm39) N873I possibly damaging 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
R5910:Rusc1 UTSW 3 88,999,027 (GRCm39) missense probably benign 0.05
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
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'- TCAAGACCCTGCTGTGTCAG -3'
(R):5'- GACCTTATAGCTGCCACTCTG -3'

Sequencing Primer
(F):5'- TGTGTCAGGCTCCCAACTG -3'
(R):5'- GGCTCTGATGTTCCCCTGTG -3'
Posted On 2022-07-18