Incidental Mutation 'IGL03033:Sh3tc2'
ID408528
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sh3tc2
Ensembl Gene ENSMUSG00000045629
Gene NameSH3 domain and tetratricopeptide repeats 2
SynonymsD430044G18Rik
Accession Numbers

Genbank: NM_172628

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03033
Quality Score
Status
Chromosome18
Chromosomal Location61953075-62015715 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 61974478 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 187 (V187M)
Ref Sequence ENSEMBL: ENSMUSP00000055094 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051720]
Predicted Effect possibly damaging
Transcript: ENSMUST00000051720
AA Change: V187M

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000055094
Gene: ENSMUSG00000045629
AA Change: V187M

DomainStartEndE-ValueType
coiled coil region 75 101 N/A INTRINSIC
SH3 179 238 1.02e0 SMART
SH3 270 329 6.76e-5 SMART
low complexity region 414 425 N/A INTRINSIC
low complexity region 441 452 N/A INTRINSIC
low complexity region 486 503 N/A INTRINSIC
TPR 529 562 3.24e1 SMART
low complexity region 568 581 N/A INTRINSIC
TPR 837 870 2.66e0 SMART
Blast:TPR 877 910 2e-7 BLAST
low complexity region 1011 1025 N/A INTRINSIC
Blast:TPR 1045 1078 1e-12 BLAST
Blast:TPR 1127 1158 3e-7 BLAST
TPR 1167 1200 1.04e-2 SMART
Blast:TPR 1211 1235 5e-7 BLAST
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 with two N-terminal Src homology 3 (SH3) domains and 10 tetratricopeptide repeat (TPR) motifs, and is a member of a small gene family. The gene product has been proposed to be an adapter or docking molecule. Mutations in this gene result in autosomal recessive Charcot-Marie-Tooth disease type 4C, a childhood-onset neurodegenerative disease characterized by demyelination of motor and sensory neurons. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit hypomyelination of peripheral axons with reduced conduction velocity and limb grasping. [provided by MGI curators]
Allele List at MGI

 All alleles(3) : Targeted, other(3)

Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600015I10Rik A T 6: 48,932,518 T566S probably benign Het
Ap3b1 A G 13: 94,448,495 T405A probably benign Het
Bicd2 G T 13: 49,379,920 V587L probably benign Het
Bsn A T 9: 108,115,993 D853E probably damaging Het
Cacna1i C A 15: 80,362,239 N611K probably damaging Het
Capn11 A G 17: 45,642,547 L227P probably damaging Het
Copb2 A G 9: 98,570,373 N70S probably benign Het
Ddb1 T C 19: 10,625,926 V866A possibly damaging Het
Dst A G 1: 34,169,745 probably benign Het
Ero1lb A G 13: 12,581,670 Y117C probably damaging Het
Esyt1 T G 10: 128,516,383 R758S probably benign Het
Gm20441 A G 10: 75,771,492 F55S probably damaging Het
Gm20547 A T 17: 34,859,516 M362K probably damaging Het
Gucy1b2 A G 14: 62,415,944 V334A probably benign Het
Hnrnph3 A T 10: 63,018,179 F53L probably benign Het
Kcnk18 C T 19: 59,235,184 P254S probably benign Het
Lrfn5 T A 12: 61,840,047 L207Q probably damaging Het
Lrp3 T C 7: 35,202,627 M589V possibly damaging Het
Nlrp1b A G 11: 71,161,839 V918A probably benign Het
Nsg2 A G 11: 32,001,836 T29A probably damaging Het
Olfr66 T A 7: 103,881,517 H242L probably damaging Het
Pank4 C T 4: 154,974,715 T435I probably damaging Het
Prom1 C T 5: 44,006,160 probably null Het
Prr14 G T 7: 127,471,963 L3F probably damaging Het
Rfx7 A T 9: 72,532,989 probably benign Het
Rhbdl3 A G 11: 80,346,827 N295S probably damaging Het
Ripk3 A G 14: 55,787,165 probably benign Het
Ror1 A T 4: 100,411,895 N310I possibly damaging Het
Rpl23a T C 11: 78,181,582 Y74C possibly damaging Het
Rtp3 A T 9: 110,986,094 probably benign Het
Sbno1 A T 5: 124,376,150 N1326K probably damaging Het
Sepsecs T C 5: 52,660,676 N253S probably damaging Het
Setd2 A C 9: 110,551,275 E1386A possibly damaging Het
Sf3b3 T C 8: 110,810,964 I1211V possibly damaging Het
Slc30a6 G T 17: 74,409,378 E136* probably null Het
Sptan1 T A 2: 29,991,033 V438E probably damaging Het
Stab2 A G 10: 86,996,803 probably null Het
Sult2a1 T A 7: 13,832,710 probably benign Het
Tmem198 A G 1: 75,482,968 D189G possibly damaging Het
Tnfrsf8 C A 4: 145,292,649 L205F possibly damaging Het
Vmn1r68 T A 7: 10,528,147 E8V probably damaging Het
Wnk3 G A X: 151,276,928 D742N probably damaging Het
Xpc A T 6: 91,491,315 probably null Het
Zfp113 A T 5: 138,151,196 probably benign Het
Zfp120 A T 2: 150,119,874 D51E probably benign Het
Zfp473 C T 7: 44,733,098 V603M probably benign Het
Other mutations in Sh3tc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01146:Sh3tc2 APN 18 61989511 missense probably damaging 1.00
IGL01523:Sh3tc2 APN 18 61990883 missense probably benign 0.00
IGL02036:Sh3tc2 APN 18 62014907 missense probably benign 0.17
IGL02189:Sh3tc2 APN 18 61990622 missense probably benign 0.00
IGL02555:Sh3tc2 APN 18 61990237 missense probably damaging 0.99
IGL02827:Sh3tc2 APN 18 62013159 missense probably benign 0.34
IGL03040:Sh3tc2 APN 18 61989410 missense probably benign 0.00
IGL03062:Sh3tc2 APN 18 62011880 missense probably damaging 1.00
IGL03386:Sh3tc2 APN 18 61973311 missense probably benign 0.39
3-1:Sh3tc2 UTSW 18 61991138 missense probably damaging 1.00
R1085:Sh3tc2 UTSW 18 62014996 missense probably benign 0.01
R1166:Sh3tc2 UTSW 18 61991176 missense probably damaging 0.99
R1182:Sh3tc2 UTSW 18 61968100 missense probably benign 0.17
R1521:Sh3tc2 UTSW 18 62008488 missense probably damaging 0.96
R1636:Sh3tc2 UTSW 18 61989721 missense probably damaging 0.98
R1872:Sh3tc2 UTSW 18 62011883 missense probably damaging 1.00
R1884:Sh3tc2 UTSW 18 62008575 missense probably damaging 1.00
R1964:Sh3tc2 UTSW 18 61991155 nonsense probably null
R2034:Sh3tc2 UTSW 18 61987666 missense probably damaging 1.00
R2046:Sh3tc2 UTSW 18 61990843 missense probably benign
R2113:Sh3tc2 UTSW 18 62013105 missense probably damaging 1.00
R2363:Sh3tc2 UTSW 18 61990895 missense probably benign 0.07
R2940:Sh3tc2 UTSW 18 61989686 missense probably damaging 1.00
R2979:Sh3tc2 UTSW 18 61989485 missense probably damaging 1.00
R3717:Sh3tc2 UTSW 18 61990343 missense probably benign 0.04
R3718:Sh3tc2 UTSW 18 61990343 missense probably benign 0.04
R4334:Sh3tc2 UTSW 18 61990321 missense probably damaging 1.00
R4454:Sh3tc2 UTSW 18 62007773 missense probably damaging 1.00
R4503:Sh3tc2 UTSW 18 61974623 missense probably damaging 0.96
R4515:Sh3tc2 UTSW 18 61987693 splice site probably null
R4659:Sh3tc2 UTSW 18 61974509 missense probably benign 0.00
R4859:Sh3tc2 UTSW 18 62013093 missense probably benign 0.00
R4901:Sh3tc2 UTSW 18 61990435 missense probably benign 0.03
R5033:Sh3tc2 UTSW 18 62014891 splice site probably null
R5269:Sh3tc2 UTSW 18 61975613 missense probably benign 0.00
R5439:Sh3tc2 UTSW 18 61989633 nonsense probably null
R5467:Sh3tc2 UTSW 18 61990688 missense possibly damaging 0.81
R5468:Sh3tc2 UTSW 18 61973431 critical splice donor site probably null
R5527:Sh3tc2 UTSW 18 62011861 missense probably benign 0.00
R5829:Sh3tc2 UTSW 18 61990915 missense probably benign 0.19
R5880:Sh3tc2 UTSW 18 61973311 missense probably benign 0.39
R5948:Sh3tc2 UTSW 18 62013105 missense probably damaging 1.00
R5951:Sh3tc2 UTSW 18 61990007 missense probably damaging 1.00
R5973:Sh3tc2 UTSW 18 61977904 missense probably benign 0.06
R5995:Sh3tc2 UTSW 18 61990010 missense probably damaging 0.96
R6309:Sh3tc2 UTSW 18 61968010 missense probably damaging 0.98
R6339:Sh3tc2 UTSW 18 61975571 nonsense probably null
R6648:Sh3tc2 UTSW 18 62015040 missense probably benign 0.00
R6723:Sh3tc2 UTSW 18 61977954 missense probably damaging 1.00
R6752:Sh3tc2 UTSW 18 61961037 missense probably benign 0.00
R7211:Sh3tc2 UTSW 18 61989403 missense probably benign
R7367:Sh3tc2 UTSW 18 61989506 missense probably benign 0.00
Posted On2016-08-02