Incidental Mutation 'IGL01386:Sh2d6'
ID 79051
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sh2d6
Ensembl Gene ENSMUSG00000052631
Gene Name SH2 domain containing 6
Synonyms 4933424C13Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.049) question?
Stock # IGL01386
Quality Score
Status
Chromosome 6
Chromosomal Location 72490624-72498690 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 72495945 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 98 (T98S)
Ref Sequence ENSEMBL: ENSMUSP00000124673 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089687] [ENSMUST00000159877] [ENSMUST00000162561]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000089687
AA Change: T71S

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000087117
Gene: ENSMUSG00000052631
AA Change: T71S

DomainStartEndE-ValueType
low complexity region 32 43 N/A INTRINSIC
low complexity region 163 176 N/A INTRINSIC
SH2 184 276 3.15e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159577
Predicted Effect probably benign
Transcript: ENSMUST00000159877
AA Change: T25S

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000123776
Gene: ENSMUSG00000052631
AA Change: T25S

DomainStartEndE-ValueType
low complexity region 117 130 N/A INTRINSIC
SH2 138 230 3.15e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160123
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160761
Predicted Effect probably benign
Transcript: ENSMUST00000162561
AA Change: T98S

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000124673
Gene: ENSMUSG00000052631
AA Change: T98S

DomainStartEndE-ValueType
low complexity region 59 70 N/A INTRINSIC
low complexity region 190 203 N/A INTRINSIC
SH2 211 303 3.15e-16 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 T C 12: 80,240,446 (GRCm39) R214G probably benign Het
Cacna1e T A 1: 154,348,123 (GRCm39) K817N probably benign Het
Cyp3a16 A G 5: 145,377,244 (GRCm39) F448L probably damaging Het
Dpp6 T A 5: 27,869,760 (GRCm39) probably null Het
Eif2ak3 C T 6: 70,869,710 (GRCm39) T799M probably damaging Het
Erbb4 A T 1: 68,383,090 (GRCm39) S302R probably damaging Het
Fam217a T A 13: 35,099,632 (GRCm39) probably benign Het
Flt4 C A 11: 49,528,162 (GRCm39) A995D probably benign Het
Fpr-rs7 G A 17: 20,334,454 (GRCm39) S12L probably damaging Het
Fsd1 C T 17: 56,303,733 (GRCm39) S491F probably damaging Het
Hpcal4 T C 4: 123,083,035 (GRCm39) probably null Het
Intu A T 3: 40,647,017 (GRCm39) D630V probably damaging Het
Jak3 A G 8: 72,136,933 (GRCm39) D703G probably damaging Het
Lama4 A G 10: 38,887,060 (GRCm39) I122V probably benign Het
Mrpl11 A C 19: 5,013,409 (GRCm39) K92T probably null Het
Mtarc2 A G 1: 184,551,413 (GRCm39) probably benign Het
Mylk A G 16: 34,791,610 (GRCm39) probably null Het
Or52ab4 A T 7: 102,987,974 (GRCm39) K238* probably null Het
Parpbp A C 10: 87,975,848 (GRCm39) Y88* probably null Het
Plod2 G A 9: 92,488,655 (GRCm39) R627Q probably damaging Het
Rapsn G T 2: 90,867,144 (GRCm39) A149S probably damaging Het
Ripk3 T G 14: 56,023,484 (GRCm39) Q109P probably damaging Het
Scaf11 T C 15: 96,318,361 (GRCm39) D401G probably damaging Het
Serpine2 G A 1: 79,779,268 (GRCm39) T150I probably damaging Het
Slc28a1 G T 7: 80,814,427 (GRCm39) A513S probably benign Het
Tanc2 T C 11: 105,777,207 (GRCm39) F795S probably damaging Het
Tcim T A 8: 24,928,705 (GRCm39) I70F probably benign Het
Thbd G A 2: 148,249,602 (GRCm39) Q89* probably null Het
Tmem115 C T 9: 107,411,859 (GRCm39) T61I probably damaging Het
Tsc2 A T 17: 24,832,259 (GRCm39) V650E probably damaging Het
Tubgcp6 A T 15: 88,992,199 (GRCm39) Y595* probably null Het
Uroc1 C T 6: 90,323,747 (GRCm39) A398V probably damaging Het
Vmn1r31 T C 6: 58,449,587 (GRCm39) T93A probably benign Het
Vmn2r113 A G 17: 23,175,024 (GRCm39) E545G possibly damaging Het
Vps13a A G 19: 16,678,516 (GRCm39) V1155A possibly damaging Het
Zfp667 A G 7: 6,307,869 (GRCm39) H179R probably benign Het
Other mutations in Sh2d6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01111:Sh2d6 APN 6 72,496,812 (GRCm39) missense probably benign
IGL02058:Sh2d6 APN 6 72,490,961 (GRCm39) nonsense probably null
IGL02950:Sh2d6 APN 6 72,492,285 (GRCm39) missense probably damaging 1.00
IGL02963:Sh2d6 APN 6 72,494,584 (GRCm39) missense probably benign 0.01
R1981:Sh2d6 UTSW 6 72,494,527 (GRCm39) splice site probably benign
R2304:Sh2d6 UTSW 6 72,497,542 (GRCm39) missense probably damaging 1.00
R4520:Sh2d6 UTSW 6 72,495,936 (GRCm39) missense possibly damaging 0.48
R4793:Sh2d6 UTSW 6 72,494,581 (GRCm39) missense probably benign
R5079:Sh2d6 UTSW 6 72,496,833 (GRCm39) missense probably benign 0.02
R7424:Sh2d6 UTSW 6 72,494,147 (GRCm39) missense probably benign 0.05
R9045:Sh2d6 UTSW 6 72,492,604 (GRCm39) missense probably benign 0.22
R9246:Sh2d6 UTSW 6 72,497,594 (GRCm39) nonsense probably null
RF013:Sh2d6 UTSW 6 72,493,371 (GRCm39) critical splice donor site probably null
Posted On 2013-11-05