Incidental Mutation 'IGL03024:Shoc2'
ID 408068
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Shoc2
Ensembl Gene ENSMUSG00000024976
Gene Name Shoc2, leucine rich repeat scaffold protein
Synonyms Sur-8, soc-2 (suppressor of clear) homolog (C. elegans)
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03024
Quality Score
Status
Chromosome 19
Chromosomal Location 53932737-54021564 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 53991458 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 241 (I241T)
Ref Sequence ENSEMBL: ENSMUSP00000127932 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025932] [ENSMUST00000169861]
AlphaFold O88520
Predicted Effect probably benign
Transcript: ENSMUST00000025932
AA Change: I241T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025932
Gene: ENSMUSG00000024976
AA Change: I241T

DomainStartEndE-ValueType
low complexity region 35 60 N/A INTRINSIC
LRR 122 144 1.33e-1 SMART
LRR 145 167 6.05e0 SMART
LRR 168 190 4.7e0 SMART
LRR 191 213 7.57e0 SMART
LRR 214 235 3.55e1 SMART
LRR_TYP 237 260 1.1e-2 SMART
low complexity region 266 278 N/A INTRINSIC
LRR 283 306 1.62e0 SMART
LRR 307 329 3.97e0 SMART
LRR 330 353 1.12e2 SMART
LRR 354 377 1.22e2 SMART
LRR 401 423 8.73e1 SMART
LRR 424 446 4.34e-1 SMART
LRR 447 469 4.65e-1 SMART
LRR 470 492 8.09e-1 SMART
LRR 493 514 2.82e0 SMART
LRR 516 540 5.89e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000169861
AA Change: I241T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000127932
Gene: ENSMUSG00000024976
AA Change: I241T

DomainStartEndE-ValueType
low complexity region 35 60 N/A INTRINSIC
LRR 122 144 1.33e-1 SMART
LRR 145 167 6.05e0 SMART
LRR 168 190 4.7e0 SMART
LRR 191 213 7.57e0 SMART
LRR 214 235 3.55e1 SMART
LRR_TYP 237 260 1.1e-2 SMART
low complexity region 266 278 N/A INTRINSIC
LRR 283 306 1.62e0 SMART
LRR 307 329 3.97e0 SMART
LRR 330 353 1.12e2 SMART
LRR 354 377 1.22e2 SMART
LRR 401 423 8.73e1 SMART
LRR 424 446 4.34e-1 SMART
LRR 447 469 4.65e-1 SMART
LRR 470 492 8.09e-1 SMART
LRR 493 514 2.82e0 SMART
LRR 516 540 5.89e1 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that consists almost entirely of leucine-rich repeats, a domain implicated in protein-protein interactions. The protein may function as a scaffold linking RAS to downstream signal transducers in the RAS/ERK MAP kinase signaling cascade. Mutations in this gene have been associated with Noonan-like syndrome with loose anagen hair. [provided by RefSeq, May 2010]
PHENOTYPE: Shoc2 is essential for embryonic development, as germline deletion results in early embryonic lethality. Endothelial cell-specific deletion causes defects in cardiac development, and results in late embryonic/early fetal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T C 17: 9,212,464 (GRCm39) F257L probably benign Het
Aaas A G 15: 102,258,926 (GRCm39) probably benign Het
AI661453 C T 17: 47,757,513 (GRCm39) R57W probably damaging Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Bahd1 T C 2: 118,746,597 (GRCm39) V72A probably damaging Het
Bcl3 A G 7: 19,543,059 (GRCm39) probably benign Het
Blnk A T 19: 40,982,445 (GRCm39) probably benign Het
Cd81 T C 7: 142,621,089 (GRCm39) I230T probably benign Het
Cdc20b A T 13: 113,227,576 (GRCm39) R485S possibly damaging Het
Cenpp C A 13: 49,617,730 (GRCm39) A273S probably benign Het
Cep295 A G 9: 15,236,868 (GRCm39) V2022A probably benign Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Cfap61 C A 2: 145,781,919 (GRCm39) probably benign Het
Col8a1 T A 16: 57,448,727 (GRCm39) H261L unknown Het
Cyp2j5 A T 4: 96,517,760 (GRCm39) M484K probably benign Het
D930020B18Rik T C 10: 121,521,527 (GRCm39) probably benign Het
Dhdds A T 4: 133,710,160 (GRCm39) L203Q probably damaging Het
Dusp6 A G 10: 99,102,156 (GRCm39) T381A probably damaging Het
Elp1 A G 4: 56,774,686 (GRCm39) probably null Het
Fnbp4 A G 2: 90,581,523 (GRCm39) D192G probably benign Het
Gbp2 G T 3: 142,337,780 (GRCm39) V299F probably damaging Het
Gfpt1 G T 6: 87,030,813 (GRCm39) V66F probably damaging Het
Heatr1 T C 13: 12,422,390 (GRCm39) probably benign Het
Irf8 T A 8: 121,480,097 (GRCm39) S112T probably damaging Het
Jmy G T 13: 93,635,707 (GRCm39) N36K probably damaging Het
Kcnt2 T C 1: 140,498,193 (GRCm39) I866T probably benign Het
Kif1c A T 11: 70,596,015 (GRCm39) M210L probably damaging Het
Kng1 G A 16: 22,893,442 (GRCm39) V272I possibly damaging Het
Lrig2 A C 3: 104,401,389 (GRCm39) M166R probably damaging Het
Mastl A G 2: 23,029,931 (GRCm39) L265P probably damaging Het
Mmp27 A G 9: 7,581,377 (GRCm39) T547A probably benign Het
Myh4 T C 11: 67,139,305 (GRCm39) C541R probably damaging Het
Naip2 A T 13: 100,325,862 (GRCm39) F15L possibly damaging Het
Nipal1 G T 5: 72,820,968 (GRCm39) probably null Het
Nrp2 A T 1: 62,810,893 (GRCm39) N645Y probably damaging Het
Or1j19 T A 2: 36,676,858 (GRCm39) F107Y possibly damaging Het
Or4g17 T A 2: 111,209,935 (GRCm39) F197I possibly damaging Het
Or7d9 T A 9: 20,197,280 (GRCm39) M103K probably benign Het
Plcl1 T A 1: 55,734,946 (GRCm39) S96T probably damaging Het
Prl2c1 A C 13: 28,040,524 (GRCm39) D139A probably benign Het
Prmt5 A T 14: 54,754,055 (GRCm39) M43K possibly damaging Het
Ptpn21 T A 12: 98,646,315 (GRCm39) M1048L probably benign Het
Ptprq T C 10: 107,521,427 (GRCm39) E653G possibly damaging Het
Rbm6 A G 9: 107,664,567 (GRCm39) S689P probably damaging Het
Rtn3 A G 19: 7,460,455 (GRCm39) probably benign Het
Sipa1 A T 19: 5,706,189 (GRCm39) D380E probably damaging Het
Slc1a6 T C 10: 78,650,442 (GRCm39) V560A probably benign Het
Speer2 T C 16: 69,655,003 (GRCm39) H154R possibly damaging Het
Tlk1 A T 2: 70,576,380 (GRCm39) C247* probably null Het
Trim15 A G 17: 37,177,785 (GRCm39) L70P probably damaging Het
Ttc9b T C 7: 27,354,358 (GRCm39) L148P probably damaging Het
Vwa8 C T 14: 79,232,538 (GRCm39) P627S probably benign Het
Other mutations in Shoc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02498:Shoc2 APN 19 54,016,207 (GRCm39) nonsense probably null
IGL02660:Shoc2 APN 19 53,976,452 (GRCm39) missense probably benign
IGL02880:Shoc2 APN 19 54,019,525 (GRCm39) missense probably benign 0.13
R1480:Shoc2 UTSW 19 53,976,202 (GRCm39) missense probably benign 0.09
R4400:Shoc2 UTSW 19 54,019,660 (GRCm39) missense probably benign 0.02
R4468:Shoc2 UTSW 19 54,014,845 (GRCm39) missense probably damaging 0.98
R4765:Shoc2 UTSW 19 53,976,734 (GRCm39) missense probably benign 0.00
R5309:Shoc2 UTSW 19 53,976,164 (GRCm39) missense probably benign
R5408:Shoc2 UTSW 19 53,976,556 (GRCm39) missense probably benign
R5745:Shoc2 UTSW 19 54,018,323 (GRCm39) missense probably benign 0.09
R5991:Shoc2 UTSW 19 53,991,480 (GRCm39) missense probably damaging 1.00
R6891:Shoc2 UTSW 19 53,976,548 (GRCm39) missense probably benign 0.00
R7493:Shoc2 UTSW 19 53,976,467 (GRCm39) missense probably benign 0.16
R8444:Shoc2 UTSW 19 53,976,503 (GRCm39) missense probably damaging 1.00
R9135:Shoc2 UTSW 19 53,976,310 (GRCm39) missense probably benign
R9213:Shoc2 UTSW 19 54,016,231 (GRCm39) missense probably benign 0.44
Posted On 2016-08-02