Incidental Mutation 'IGL01395:Rusc1'
ID 79407
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rusc1
Ensembl Gene ENSMUSG00000041263
Gene Name RUN and SH3 domain containing 1
Synonyms 2210403N08Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01395
Quality Score
Status
Chromosome 3
Chromosomal Location 88991288-89000618 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88999728 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 18 (Q18R)
Ref Sequence ENSEMBL: ENSMUSP00000088447 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052539] [ENSMUST00000081848] [ENSMUST00000090929] [ENSMUST00000166687] [ENSMUST00000196043] [ENSMUST00000196223] [ENSMUST00000200659] [ENSMUST00000196921] [ENSMUST00000196709] [ENSMUST00000196254] [ENSMUST00000199668]
AlphaFold Q8BG26
Predicted Effect probably damaging
Transcript: ENSMUST00000052539
AA Change: Q18R

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000056640
Gene: ENSMUSG00000041263
AA Change: Q18R

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 damaging
Transcript: ENSMUST00000090929
AA Change: Q18R

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000088447
Gene: ENSMUSG00000041263
AA Change: Q18R

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: ENSMUST00000198506
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200357
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: 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: ENSMUST00000196709
SMART Domains Protein: ENSMUSP00000142770
Gene: ENSMUSG00000059743

DomainStartEndE-ValueType
Pfam:polyprenyl_synt 44 316 8.7e-84 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: ENSMUST00000199668
SMART Domains Protein: ENSMUSP00000142393
Gene: ENSMUSG00000059743

DomainStartEndE-ValueType
Pfam:polyprenyl_synt 44 121 3.2e-22 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 C T 18: 67,575,880 (GRCm39) R52H probably benign Het
Alg8 T A 7: 97,027,383 (GRCm39) Y84N possibly damaging Het
B3gnt4 T A 5: 123,649,131 (GRCm39) F165L probably damaging Het
Calcrl T C 2: 84,198,919 (GRCm39) I157V probably benign Het
Clpx T C 9: 65,209,133 (GRCm39) S83P probably benign Het
Col7a1 G A 9: 108,812,980 (GRCm39) probably benign Het
Cttn A G 7: 144,011,464 (GRCm39) V115A probably damaging Het
Dcaf1 G A 9: 106,735,361 (GRCm39) V770I possibly damaging Het
Ddx19a A G 8: 111,717,164 (GRCm39) probably benign Het
Dennd6a T A 14: 26,338,056 (GRCm39) Y175* probably null Het
Dhx58 C T 11: 100,594,752 (GRCm39) G48D probably damaging Het
Dnah8 T A 17: 30,854,979 (GRCm39) F178I probably benign Het
Eif5b T C 1: 38,076,339 (GRCm39) I629T probably damaging Het
Frrs1 A G 3: 116,694,654 (GRCm39) I492V probably benign Het
Gm16505 G A 13: 3,411,242 (GRCm39) noncoding transcript Het
Golga4 G A 9: 118,364,441 (GRCm39) G259D probably damaging Het
Gpatch8 T C 11: 102,371,534 (GRCm39) H668R unknown Het
Gucy2c G T 6: 136,675,027 (GRCm39) Q1019K probably damaging Het
Hivep2 T C 10: 14,008,544 (GRCm39) probably null Het
Jph2 T C 2: 163,181,847 (GRCm39) N439S probably benign Het
Knl1 T A 2: 118,902,047 (GRCm39) D1249E probably damaging Het
Lrrc37a A G 11: 103,394,687 (GRCm39) V246A probably benign Het
Mast1 T C 8: 85,639,444 (GRCm39) D1295G possibly damaging Het
Mical2 T A 7: 111,922,792 (GRCm39) M599K probably damaging Het
Nr3c2 T C 8: 77,635,477 (GRCm39) S193P possibly damaging Het
Nr4a2 T A 2: 57,002,165 (GRCm39) Q33L probably damaging Het
Nrap A T 19: 56,350,225 (GRCm39) M514K probably damaging Het
Or1d2 T C 11: 74,255,713 (GRCm39) F73L probably damaging Het
Or5ac16 T A 16: 59,022,460 (GRCm39) T110S possibly damaging Het
Or9i2 A T 19: 13,816,316 (GRCm39) S74T probably damaging Het
Pde5a T C 3: 122,611,604 (GRCm39) I514T probably benign Het
Plxna4 A G 6: 32,216,368 (GRCm39) V569A probably damaging Het
Ppm1k T C 6: 57,490,943 (GRCm39) H324R probably benign Het
Prdm5 A G 6: 65,847,374 (GRCm39) H155R possibly damaging Het
Prpf19 C T 19: 10,878,375 (GRCm39) T287I probably damaging Het
Prpf8 C A 11: 75,385,121 (GRCm39) A794D possibly damaging Het
Pygb C A 2: 150,643,503 (GRCm39) Q97K probably benign Het
Rab27b T C 18: 70,118,288 (GRCm39) K210E probably benign Het
Rttn T G 18: 89,147,894 (GRCm39) N2182K possibly damaging Het
Stat4 C T 1: 52,051,033 (GRCm39) R31W probably damaging Het
Tas2r135 T A 6: 42,382,846 (GRCm39) C128* probably null Het
Tm9sf3 T C 19: 41,244,715 (GRCm39) E54G probably damaging Het
Tmx1 A T 12: 70,507,251 (GRCm39) probably null Het
Tnrc6c T A 11: 117,613,939 (GRCm39) V859E probably benign Het
Uggt1 T C 1: 36,194,158 (GRCm39) D1360G probably damaging Het
Other mutations in Rusc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-11-05