Incidental Mutation 'IGL03024:Shoc2'
ID 408068
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Shoc2
Ensembl Gene ENSMUSG00000024976
Gene Name soc-2 (suppressor of clear) homolog (C. elegans)
Synonyms Sur-8
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL03024
Quality Score
Status
Chromosome 19
Chromosomal Location 53944306-54033268 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 54003027 bp (GRCm38)
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: 8,993,632 F257L probably benign Het
Aaas A G 15: 102,350,491 probably benign Het
AI661453 C T 17: 47,446,588 R57W probably damaging Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Bahd1 T C 2: 118,916,116 V72A probably damaging Het
Bcl3 A G 7: 19,809,134 probably benign Het
Blnk A T 19: 40,994,002 probably benign Het
Cd81 T C 7: 143,067,352 I230T probably benign Het
Cdc20b A T 13: 113,091,042 R485S possibly damaging Het
Cenpp C A 13: 49,464,254 A273S probably benign Het
Cep295 A G 9: 15,325,572 V2022A probably benign Het
Ces1d C A 8: 93,169,718 probably null Het
Cfap61 C A 2: 145,939,999 probably benign Het
Col8a1 T A 16: 57,628,364 H261L unknown Het
Cyp2j5 A T 4: 96,629,523 M484K probably benign Het
D930020B18Rik T C 10: 121,685,622 probably benign Het
Dhdds A T 4: 133,982,849 L203Q probably damaging Het
Dusp6 A G 10: 99,266,294 T381A probably damaging Het
Fnbp4 A G 2: 90,751,179 D192G probably benign Het
Gbp2 G T 3: 142,632,019 V299F probably damaging Het
Gfpt1 G T 6: 87,053,831 V66F probably damaging Het
Heatr1 T C 13: 12,407,509 probably benign Het
Ikbkap A G 4: 56,774,686 probably null Het
Irf8 T A 8: 120,753,358 S112T probably damaging Het
Jmy G T 13: 93,499,199 N36K probably damaging Het
Kcnt2 T C 1: 140,570,455 I866T probably benign Het
Kif1c A T 11: 70,705,189 M210L probably damaging Het
Kng1 G A 16: 23,074,692 V272I possibly damaging Het
Lrig2 A C 3: 104,494,073 M166R probably damaging Het
Mastl A G 2: 23,139,919 L265P probably damaging Het
Mmp27 A G 9: 7,581,376 T547A probably benign Het
Myh4 T C 11: 67,248,479 C541R probably damaging Het
Naip2 A T 13: 100,189,354 F15L possibly damaging Het
Nipal1 G T 5: 72,663,625 probably null Het
Nrp2 A T 1: 62,771,734 N645Y probably damaging Het
Olfr1284 T A 2: 111,379,590 F197I possibly damaging Het
Olfr348 T A 2: 36,786,846 F107Y possibly damaging Het
Olfr39 T A 9: 20,285,984 M103K probably benign Het
Plcl1 T A 1: 55,695,787 S96T probably damaging Het
Prl2c1 A C 13: 27,856,541 D139A probably benign Het
Prmt5 A T 14: 54,516,598 M43K possibly damaging Het
Ptpn21 T A 12: 98,680,056 M1048L probably benign Het
Ptprq T C 10: 107,685,566 E653G possibly damaging Het
Rbm6 A G 9: 107,787,368 S689P probably damaging Het
Rtn3 A G 19: 7,483,090 probably benign Het
Sipa1 A T 19: 5,656,161 D380E probably damaging Het
Slc1a6 T C 10: 78,814,608 V560A probably benign Het
Speer2 T C 16: 69,858,115 H154R possibly damaging Het
Tlk1 A T 2: 70,746,036 C247* probably null Het
Trim15 A G 17: 36,866,893 L70P probably damaging Het
Ttc9b T C 7: 27,654,933 L148P probably damaging Het
Vwa8 C T 14: 78,995,098 P627S probably benign Het
Other mutations in Shoc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02498:Shoc2 APN 19 54027776 nonsense probably null
IGL02660:Shoc2 APN 19 53988021 missense probably benign
IGL02880:Shoc2 APN 19 54031094 missense probably benign 0.13
R1480:Shoc2 UTSW 19 53987771 missense probably benign 0.09
R4400:Shoc2 UTSW 19 54031229 missense probably benign 0.02
R4468:Shoc2 UTSW 19 54026414 missense probably damaging 0.98
R4765:Shoc2 UTSW 19 53988303 missense probably benign 0.00
R5309:Shoc2 UTSW 19 53987733 missense probably benign
R5408:Shoc2 UTSW 19 53988125 missense probably benign
R5745:Shoc2 UTSW 19 54029892 missense probably benign 0.09
R5991:Shoc2 UTSW 19 54003049 missense probably damaging 1.00
R6891:Shoc2 UTSW 19 53988117 missense probably benign 0.00
R7493:Shoc2 UTSW 19 53988036 missense probably benign 0.16
R8444:Shoc2 UTSW 19 53988072 missense probably damaging 1.00
R9135:Shoc2 UTSW 19 53987879 missense probably benign
R9213:Shoc2 UTSW 19 54027800 missense probably benign 0.44
Posted On 2016-08-02