Incidental Mutation 'IGL02795:Rusc1'
ID359932
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rusc1
Ensembl Gene ENSMUSG00000041263
Gene NameRUN and SH3 domain containing 1
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02795
Quality Score
Status
Chromosome3
Chromosomal Location89083981-89093311 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 89091950 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 175 (L175Q)
Ref Sequence ENSEMBL: ENSMUSP00000088447 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052539] [ENSMUST00000081848] [ENSMUST00000090929] [ENSMUST00000166687] [ENSMUST00000196043] [ENSMUST00000196223] [ENSMUST00000196254] [ENSMUST00000196709] [ENSMUST00000196921] [ENSMUST00000199668] [ENSMUST00000200659]
Predicted Effect probably damaging
Transcript: ENSMUST00000052539
AA Change: L175Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000056640
Gene: ENSMUSG00000041263
AA Change: L175Q

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: L175Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000088447
Gene: ENSMUSG00000041263
AA Change: L175Q

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 noncoding transcript
Transcript: ENSMUST00000198506
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 noncoding transcript
Transcript: ENSMUST00000200357
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200433
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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,288,748 L1391P probably damaging Het
Abcc3 G A 11: 94,361,642 probably benign Het
Acvr1 A G 2: 58,462,952 I332T probably damaging Het
Atp8a2 C T 14: 60,033,742 V247M probably damaging Het
Btn1a1 T C 13: 23,460,616 probably null Het
Btnl9 A T 11: 49,174,867 probably benign Het
Dbx1 T A 7: 49,636,577 I47F probably benign Het
Dnaja3 A G 16: 4,690,073 probably benign Het
Dnmt1 T C 9: 20,927,111 S220G probably benign Het
Dock9 A T 14: 121,639,978 M451K probably benign Het
Eml3 A G 19: 8,933,778 Y257C probably benign Het
Fbxw19 C A 9: 109,495,818 M10I possibly damaging Het
Flg2 C T 3: 93,203,613 R983W unknown Het
Galnt5 C A 2: 58,027,871 P707H probably damaging Het
Gba2 G T 4: 43,578,331 P6Q probably damaging Het
Gm13199 A G 2: 5,862,673 probably benign Het
Gpr45 C T 1: 43,032,493 R99C possibly damaging Het
Hecw1 G A 13: 14,322,517 S302L probably damaging Het
Hrg T C 16: 22,957,553 probably benign Het
Kdelc2 A G 9: 53,392,105 D99G probably damaging Het
Lama1 A G 17: 67,738,894 probably null Het
Lgr4 T C 2: 110,008,210 probably benign Het
Lrrc9 C T 12: 72,478,768 T830M probably damaging Het
Mdga2 T C 12: 66,689,432 T341A probably benign Het
Mms19 C T 19: 41,952,406 probably null Het
Nectin1 A G 9: 43,803,552 S362G probably benign Het
Nlrc3 G T 16: 3,965,285 H87N probably damaging Het
Oit1 T A 14: 8,355,497 M113L probably benign Het
Olfr1018 T A 2: 85,823,512 C180* probably null Het
Olfr142 A G 2: 90,252,562 L142P probably damaging Het
Olfr183 G T 16: 59,000,277 L197F possibly damaging Het
Olfr23 G A 11: 73,940,929 V228I probably benign Het
Olfr243 T A 7: 103,716,883 F96L probably benign Het
Pcsk1 G T 13: 75,112,620 G321C probably damaging Het
Prrc2c G T 1: 162,714,299 P374T probably benign Het
Ryr2 T C 13: 11,595,190 N4250S probably benign Het
Scara5 A C 14: 65,730,680 N134T possibly damaging Het
Sema4d T C 13: 51,703,411 K595R probably benign Het
Serpinb6a A C 13: 33,931,593 L15R probably damaging Het
Setdb1 A T 3: 95,327,373 N1006K probably damaging Het
Slc18a2 G A 19: 59,274,490 probably benign Het
Slc22a30 C T 19: 8,400,895 C139Y probably damaging Het
Slc25a27 T A 17: 43,647,112 Y269F probably damaging Het
Slc9c1 A T 16: 45,575,419 D611V probably benign Het
Spag6 G T 2: 18,733,083 V255F probably benign Het
St5 T C 7: 109,556,364 Y393C probably damaging Het
Svep1 C A 4: 58,123,223 G698W probably damaging Het
Syne2 T C 12: 75,966,549 L2839P probably damaging Het
Tfb2m T C 1: 179,545,959 E58G possibly damaging Het
Trim24 A T 6: 37,919,389 E260D probably damaging Het
Ugt2b1 T A 5: 86,917,701 D493V probably damaging Het
Vmn1r27 A G 6: 58,215,302 V189A possibly damaging Het
Vmn2r91 A G 17: 18,085,277 Q74R probably benign Het
Vps25 A G 11: 101,256,090 Y64C probably damaging Het
Xirp2 G A 2: 67,509,136 G574S probably damaging Het
Ythdc2 A G 18: 44,837,438 E273G possibly damaging Het
Other mutations in Rusc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01395:Rusc1 APN 3 89092421 missense probably damaging 0.99
IGL03174:Rusc1 APN 3 89091770 missense probably damaging 1.00
R0422:Rusc1 UTSW 3 89086825 missense probably benign 0.01
R1711:Rusc1 UTSW 3 89089293 missense probably damaging 1.00
R1846:Rusc1 UTSW 3 89092145 missense probably damaging 1.00
R2060:Rusc1 UTSW 3 89087848 missense possibly damaging 0.86
R2114:Rusc1 UTSW 3 89091707 missense probably benign
R2209:Rusc1 UTSW 3 89088821 missense probably damaging 1.00
R3081:Rusc1 UTSW 3 89091723 missense possibly damaging 0.84
R3155:Rusc1 UTSW 3 89091731 missense probably benign 0.03
R3156:Rusc1 UTSW 3 89091731 missense probably benign 0.03
R4499:Rusc1 UTSW 3 89092308 missense probably benign 0.02
R4678:Rusc1 UTSW 3 89089720 missense probably damaging 1.00
R4725:Rusc1 UTSW 3 89091429 missense possibly damaging 0.83
R4762:Rusc1 UTSW 3 89091642 missense probably benign
R4890:Rusc1 UTSW 3 89088270 critical splice acceptor site probably null
R5176:Rusc1 UTSW 3 89089082 missense probably damaging 1.00
R5783:Rusc1 UTSW 3 89088145 missense probably damaging 1.00
R5910:Rusc1 UTSW 3 89091720 missense probably benign 0.05
R6189:Rusc1 UTSW 3 89089012 missense probably damaging 1.00
R6190:Rusc1 UTSW 3 89091881 missense probably benign
R6227:Rusc1 UTSW 3 89091741 missense probably benign 0.06
R7087:Rusc1 UTSW 3 89089492 missense probably damaging 0.96
R7184:Rusc1 UTSW 3 89091887 missense possibly damaging 0.61
R7237:Rusc1 UTSW 3 89091498 missense possibly damaging 0.66
R7343:Rusc1 UTSW 3 89091750 missense probably damaging 0.99
Z1177:Rusc1 UTSW 3 89089033 missense probably damaging 0.98
Posted On2015-12-18