Incidental Mutation 'R7237:Rusc1'
ID 562879
Institutional Source Beutler Lab
Gene Symbol Rusc1
Ensembl Gene ENSMUSG00000041263
Gene Name RUN and SH3 domain containing 1
Synonyms 2210403N08Rik
MMRRC Submission 045344-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7237 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 88991288-89000618 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 88998805 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 326 (Q326K)
Ref Sequence ENSEMBL: ENSMUSP00000088447 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052539] [ENSMUST00000081848] [ENSMUST00000090929] [ENSMUST00000166687] [ENSMUST00000196043] [ENSMUST00000196223] [ENSMUST00000196254] [ENSMUST00000196709] [ENSMUST00000196921] [ENSMUST00000199668] [ENSMUST00000200659]
AlphaFold Q8BG26
Predicted Effect probably damaging
Transcript: ENSMUST00000052539
AA Change: Q326K

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000056640
Gene: ENSMUSG00000041263
AA Change: Q326K

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 possibly damaging
Transcript: ENSMUST00000090929
AA Change: Q326K

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000088447
Gene: ENSMUSG00000041263
AA Change: Q326K

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 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: 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
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: 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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 98% (83/85)
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap21 A T 2: 20,854,783 (GRCm39) C1536* probably null Het
Armc9 C A 1: 86,092,571 (GRCm39) Q169K possibly damaging Het
Aspm T A 1: 139,405,667 (GRCm39) M1518K possibly damaging Het
AU018091 A G 7: 3,209,006 (GRCm39) I360T probably benign Het
BB014433 C A 8: 15,091,765 (GRCm39) V363L probably benign Het
Bcam T C 7: 19,503,232 (GRCm39) probably null Het
Cacna1g T C 11: 94,328,705 (GRCm39) S1071G probably benign Het
Card9 A T 2: 26,246,787 (GRCm39) S354T probably benign Het
Ccdc87 A G 19: 4,889,790 (GRCm39) N94S probably benign Het
Cdc27 A G 11: 104,408,245 (GRCm39) V555A probably benign Het
Coro1a T A 7: 126,299,478 (GRCm39) D411V probably benign Het
Cybrd1 GGTCCTGCAC G 2: 70,948,553 (GRCm39) probably benign Het
Cyth1 A T 11: 118,076,321 (GRCm39) I95N probably damaging Het
Dnah7b A T 1: 46,179,126 (GRCm39) E933V probably damaging Het
Dync2h1 A T 9: 6,993,966 (GRCm39) I3968N probably benign Het
Fam184a T C 10: 53,510,489 (GRCm39) probably benign Het
Fat3 G A 9: 16,288,510 (GRCm39) L338F probably damaging Het
Fcgr3 A G 1: 170,886,870 (GRCm39) L18P probably damaging Het
Gbp5 T C 3: 142,213,461 (GRCm39) V459A probably benign Het
Gja4 A T 4: 127,205,956 (GRCm39) M269K probably benign Het
Gm4787 A G 12: 81,424,442 (GRCm39) V572A probably damaging Het
Grin2d G T 7: 45,515,600 (GRCm39) S131* probably null Het
Gys1 A G 7: 45,104,586 (GRCm39) D671G probably benign Het
Haspin T C 11: 73,027,712 (GRCm39) N459S probably benign Het
Hdac10 G T 15: 89,009,580 (GRCm39) Q451K probably benign Het
Hdac9 T C 12: 34,424,139 (GRCm39) probably null Het
Hmcn1 A G 1: 150,598,394 (GRCm39) V1636A probably damaging Het
Hpca A G 4: 129,012,407 (GRCm39) L43P probably damaging Het
Hycc2 G A 1: 58,569,107 (GRCm39) Q491* probably null Het
Insm1 C A 2: 146,064,448 (GRCm39) A88E possibly damaging Het
Itga9 A G 9: 118,465,670 (GRCm39) K175E probably benign Het
Kif13a A G 13: 46,962,632 (GRCm39) probably null Het
Kif20b T A 19: 34,928,005 (GRCm39) L1089H probably damaging Het
Lamp5 A T 2: 135,901,755 (GRCm39) H152L probably benign Het
Lrp4 T C 2: 91,303,528 (GRCm39) F76L probably benign Het
Magi3 T C 3: 103,935,227 (GRCm39) D902G probably damaging Het
Map10 C T 8: 126,397,963 (GRCm39) P452L probably benign Het
Mapk6 A G 9: 75,304,895 (GRCm39) L174P probably damaging Het
Meak7 C T 8: 120,489,054 (GRCm39) G410S probably damaging Het
Ndufa4 C T 6: 11,906,018 (GRCm39) probably null Het
Nedd4 A T 9: 72,632,346 (GRCm39) E393D probably benign Het
Nlrp4b G A 7: 10,449,143 (GRCm39) V449I probably benign Het
Nufip2 T A 11: 77,583,596 (GRCm39) N503K probably benign Het
Or10ac1 T C 6: 42,515,581 (GRCm39) D125G probably damaging Het
Or6y1 C T 1: 174,276,905 (GRCm39) R239C probably benign Het
P4ha1 A G 10: 59,184,065 (GRCm39) T176A probably benign Het
Palm3 A G 8: 84,756,117 (GRCm39) K543R probably benign Het
Parvg G A 15: 84,225,557 (GRCm39) A302T probably benign Het
Pcdh15 A G 10: 74,420,023 (GRCm39) D1227G possibly damaging Het
Pdzd8 C T 19: 59,333,571 (GRCm39) G150D probably damaging Het
Pitpnm2 A G 5: 124,263,360 (GRCm39) probably null Het
Pld5 T C 1: 176,102,301 (GRCm39) Q47R possibly damaging Het
Ppp2r5d T C 17: 46,997,206 (GRCm39) S329G possibly damaging Het
Prss56 T C 1: 87,112,637 (GRCm39) V144A probably damaging Het
Psg28 A T 7: 18,161,769 (GRCm39) Y245N possibly damaging Het
Ptpn3 C T 4: 57,239,625 (GRCm39) V302I probably damaging Het
Ptprn2 A G 12: 117,125,347 (GRCm39) H627R probably benign Het
Rasgrp2 A T 19: 6,454,838 (GRCm39) H226L possibly damaging Het
Rbm20 C T 19: 53,839,930 (GRCm39) T973M probably benign Het
Rigi T A 4: 40,205,938 (GRCm39) I885F probably benign Het
Riok2 T A 17: 17,598,045 (GRCm39) L44Q probably damaging Het
Rxylt1 A T 10: 121,917,523 (GRCm39) L330* probably null Het
Sart3 A T 5: 113,892,307 (GRCm39) H397Q possibly damaging Het
Sec31b T A 19: 44,506,147 (GRCm39) T920S probably damaging Het
Serpinb13 A G 1: 106,926,679 (GRCm39) E225G probably damaging Het
Slc25a47 T C 12: 108,821,386 (GRCm39) L165P probably damaging Het
Slc2a10 G A 2: 165,357,197 (GRCm39) V286I probably benign Het
Slc39a13 G T 2: 90,895,979 (GRCm39) T174N probably benign Het
Slc7a13 T A 4: 19,839,364 (GRCm39) N322K probably benign Het
Stk38 T C 17: 29,193,620 (GRCm39) T326A possibly damaging Het
Sult1a1 T C 7: 126,272,622 (GRCm39) M244V probably benign Het
Tas2r144 C T 6: 42,192,800 (GRCm39) T180I probably damaging Het
Tbc1d12 T A 19: 38,887,346 (GRCm39) M366K probably benign Het
Terb1 T C 8: 105,221,959 (GRCm39) I147V possibly damaging Het
Tnik T C 3: 28,692,568 (GRCm39) Y820H probably damaging Het
Tnxb C A 17: 34,901,170 (GRCm39) L995I possibly damaging Het
Trim34b A G 7: 103,978,794 (GRCm39) T14A possibly damaging Het
Urb1 T C 16: 90,588,054 (GRCm39) E418G probably damaging Het
Vmn1r12 T A 6: 57,136,550 (GRCm39) C216S possibly damaging Het
Vmn2r90 T A 17: 17,924,249 (GRCm39) V16E possibly damaging Het
Vps11 A T 9: 44,265,803 (GRCm39) V492D probably damaging Het
Wdr62 A C 7: 29,969,869 (GRCm39) probably null Het
Zc3h14 T A 12: 98,746,408 (GRCm39) M539K probably benign Het
Zfp871 A T 17: 32,994,289 (GRCm39) H295Q probably 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
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'- CGACAGCCCCTCTGCAATAG -3'
(R):5'- ATTGGCTTCTTGTTTGAACACC -3'

Sequencing Primer
(F):5'- GCAGCCCAAGTCGATTTTTC -3'
(R):5'- CCAATTCTGGTTCGAAAATAGATGC -3'
Posted On 2019-06-26