Incidental Mutation 'IGL02172:Sh3d21'
ID 282926
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sh3d21
Ensembl Gene ENSMUSG00000073758
Gene Name SH3 domain containing 21
Synonyms 1700029G01Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # IGL02172
Quality Score
Status
Chromosome 4
Chromosomal Location 126044395-126057284 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 126046153 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 282 (S282P)
Ref Sequence ENSEMBL: ENSMUSP00000095501 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052876] [ENSMUST00000094760] [ENSMUST00000097891] [ENSMUST00000106150] [ENSMUST00000106152]
AlphaFold Q7TSG5
Predicted Effect probably benign
Transcript: ENSMUST00000052876
SMART Domains Protein: ENSMUSP00000054141
Gene: ENSMUSG00000050212

DomainStartEndE-ValueType
Pfam:FAM176 7 154 5.3e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000094760
AA Change: S166P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000092352
Gene: ENSMUSG00000073758
AA Change: S166P

DomainStartEndE-ValueType
SH3 68 125 7.11e-22 SMART
low complexity region 211 221 N/A INTRINSIC
low complexity region 464 473 N/A INTRINSIC
coiled coil region 482 510 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000097891
AA Change: S282P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000095501
Gene: ENSMUSG00000073758
AA Change: S282P

DomainStartEndE-ValueType
SH3 1 57 4.29e-7 SMART
low complexity region 66 76 N/A INTRINSIC
SH3 86 141 2.96e-19 SMART
SH3 184 241 7.11e-22 SMART
low complexity region 327 337 N/A INTRINSIC
low complexity region 580 589 N/A INTRINSIC
coiled coil region 598 626 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106150
SMART Domains Protein: ENSMUSP00000101756
Gene: ENSMUSG00000050212

DomainStartEndE-ValueType
Pfam:FAM176 7 154 3e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106152
SMART Domains Protein: ENSMUSP00000101758
Gene: ENSMUSG00000050212

DomainStartEndE-ValueType
Pfam:FAM176 7 154 3e-63 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122969
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141638
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142891
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152402
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,341,817 (GRCm39) V1048A probably benign Het
Adgre1 C T 17: 57,785,879 (GRCm39) T875I probably damaging Het
Arhgef26 T C 3: 62,367,097 (GRCm39) V810A probably benign Het
Atf1 T A 15: 100,152,322 (GRCm39) V105E probably damaging Het
Bbs9 C T 9: 22,490,772 (GRCm39) T300I possibly damaging Het
Bltp1 T C 3: 37,059,022 (GRCm39) V3236A probably damaging Het
Brd7 G T 8: 89,078,452 (GRCm39) H226Q probably benign Het
Cadps T C 14: 12,705,681 (GRCm38) K238R probably damaging Het
Chordc1 A G 9: 18,213,388 (GRCm39) T80A possibly damaging Het
Clca4a A T 3: 144,676,155 (GRCm39) C126* probably null Het
Col24a1 A T 3: 145,020,723 (GRCm39) T365S probably benign Het
Crb1 C T 1: 139,164,965 (GRCm39) G1053D probably damaging Het
Creb3l4 A T 3: 90,150,082 (GRCm39) S20T probably benign Het
Cyp2c67 C T 19: 39,637,446 (GRCm39) C10Y possibly damaging Het
Dhdh A T 7: 45,125,041 (GRCm39) C294S probably damaging Het
Fam135a A G 1: 24,063,861 (GRCm39) probably null Het
Fsd1 G T 17: 56,297,244 (GRCm39) probably benign Het
Gatad2b A G 3: 90,262,978 (GRCm39) probably benign Het
Glb1l2 T C 9: 26,680,382 (GRCm39) D232G probably damaging Het
Gm10553 T C 1: 85,078,015 (GRCm39) L44P probably damaging Het
Hecw1 T C 13: 14,438,734 (GRCm39) Y883C probably damaging Het
Helq A G 5: 100,938,013 (GRCm39) F478L probably damaging Het
Ift172 T C 5: 31,438,681 (GRCm39) probably benign Het
Krtcap3 A C 5: 31,409,397 (GRCm39) T55P probably damaging Het
Megf6 A G 4: 154,355,149 (GRCm39) D1488G probably damaging Het
Mrpl1 T C 5: 96,379,574 (GRCm39) V203A probably damaging Het
Myh2 A T 11: 67,079,878 (GRCm39) D1084V possibly damaging Het
Necap2 T A 4: 140,805,621 (GRCm39) probably benign Het
Nemp1 A G 10: 127,528,868 (GRCm39) S191G probably benign Het
Nrip1 T C 16: 76,088,380 (GRCm39) D1059G probably damaging Het
Ntrk3 A T 7: 78,110,020 (GRCm39) probably benign Het
Or51e1 G A 7: 102,359,051 (GRCm39) R195H probably benign Het
Or51f1d A G 7: 102,700,582 (GRCm39) I26V probably benign Het
Prkdc T G 16: 15,627,623 (GRCm39) V3427G probably benign Het
Ptprn2 A T 12: 116,837,317 (GRCm39) probably benign Het
Ptprt A T 2: 161,397,422 (GRCm39) L1095H probably damaging Het
Ren1 T A 1: 133,286,771 (GRCm39) L300Q possibly damaging Het
Rgl3 A G 9: 21,888,134 (GRCm39) I460T probably damaging Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Runx1t1 A C 4: 13,859,924 (GRCm39) Q265P probably benign Het
Slc39a13 T C 2: 90,893,505 (GRCm39) E318G possibly damaging Het
Srd5a3 T C 5: 76,295,556 (GRCm39) I82T probably benign Het
Stard7 C A 2: 127,132,792 (GRCm39) T220N probably damaging Het
Tbx4 G A 11: 85,805,389 (GRCm39) G493R possibly damaging Het
Trerf1 A T 17: 47,628,743 (GRCm39) noncoding transcript Het
Trim59 T A 3: 68,944,810 (GRCm39) I177L probably benign Het
Trpm7 T C 2: 126,637,248 (GRCm39) M1789V possibly damaging Het
Tsc22d1 T C 14: 76,655,132 (GRCm39) V455A probably benign Het
Vmn2r118 C A 17: 55,931,598 (GRCm39) M25I probably benign Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Wdr90 G A 17: 26,069,408 (GRCm39) T1233I probably benign Het
Zcchc2 G A 1: 105,928,664 (GRCm39) D308N probably benign Het
Zfp57 G T 17: 37,320,481 (GRCm39) V112L possibly damaging Het
Zfp874b A T 13: 67,622,135 (GRCm39) Y388N probably damaging Het
Other mutations in Sh3d21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02869:Sh3d21 APN 4 126,056,034 (GRCm39) missense probably benign 0.23
R0827:Sh3d21 UTSW 4 126,046,064 (GRCm39) unclassified probably benign
R0834:Sh3d21 UTSW 4 126,045,065 (GRCm39) missense probably benign 0.02
R0890:Sh3d21 UTSW 4 126,044,945 (GRCm39) missense probably damaging 1.00
R1519:Sh3d21 UTSW 4 126,045,519 (GRCm39) nonsense probably null
R1864:Sh3d21 UTSW 4 126,044,729 (GRCm39) critical splice acceptor site probably null
R1986:Sh3d21 UTSW 4 126,056,290 (GRCm39) missense probably damaging 1.00
R3429:Sh3d21 UTSW 4 126,056,625 (GRCm39) missense probably benign 0.25
R3430:Sh3d21 UTSW 4 126,056,625 (GRCm39) missense probably benign 0.25
R4244:Sh3d21 UTSW 4 126,044,511 (GRCm39) unclassified probably benign
R4501:Sh3d21 UTSW 4 126,056,652 (GRCm39) frame shift probably null
R4972:Sh3d21 UTSW 4 126,046,209 (GRCm39) missense possibly damaging 0.64
R5117:Sh3d21 UTSW 4 126,045,665 (GRCm39) missense probably damaging 1.00
R5249:Sh3d21 UTSW 4 126,055,858 (GRCm39) unclassified probably benign
R5293:Sh3d21 UTSW 4 126,046,050 (GRCm39) missense probably benign 0.18
R5556:Sh3d21 UTSW 4 126,056,029 (GRCm39) missense possibly damaging 0.50
R7085:Sh3d21 UTSW 4 126,056,884 (GRCm39) missense probably benign 0.02
R7247:Sh3d21 UTSW 4 126,045,908 (GRCm39) missense probably benign 0.00
R7564:Sh3d21 UTSW 4 126,044,937 (GRCm39) missense probably benign 0.13
R8262:Sh3d21 UTSW 4 126,055,775 (GRCm39) missense probably benign 0.03
R9047:Sh3d21 UTSW 4 126,046,131 (GRCm39) unclassified probably benign
R9295:Sh3d21 UTSW 4 126,045,276 (GRCm39) missense possibly damaging 0.83
Posted On 2015-04-16