Incidental Mutation 'R7211:Sh3tc2'
ID 561111
Institutional Source Beutler Lab
Gene Symbol Sh3tc2
Ensembl Gene ENSMUSG00000045629
Gene Name SH3 domain and tetratricopeptide repeats 2
Synonyms D430044G18Rik
MMRRC Submission 045339-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7211 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 62086002-62148790 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 62122474 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 412 (T412A)
Ref Sequence ENSEMBL: ENSMUSP00000055094 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051720]
AlphaFold Q80VA5
Predicted Effect probably benign
Transcript: ENSMUST00000051720
AA Change: T412A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000055094
Gene: ENSMUSG00000045629
AA Change: T412A

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 99% (84/85)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
a T A 2: 154,887,699 (GRCm39) V53E probably damaging Het
A1cf A G 19: 31,904,541 (GRCm39) Y268C probably benign Het
Adam34l T A 8: 44,078,914 (GRCm39) S437C probably damaging Het
Adamts13 C T 2: 26,879,310 (GRCm39) T621I probably benign Het
Akr1b7 A T 6: 34,398,049 (GRCm39) N293Y probably benign Het
Angpt2 T A 8: 18,791,147 (GRCm39) T50S probably benign Het
Anks1b C A 10: 90,346,932 (GRCm39) A744D possibly damaging Het
Aqr A G 2: 113,965,204 (GRCm39) V587A probably benign Het
Atm A G 9: 53,399,860 (GRCm39) V1540A probably benign Het
Brd10 A G 19: 29,763,712 (GRCm39) F121S Het
C4b A G 17: 34,954,508 (GRCm39) V887A possibly damaging Het
Cd200r1 A G 16: 44,609,120 (GRCm39) T26A probably benign Het
Ciao1 A G 2: 127,088,928 (GRCm39) probably null Het
Clba1 T A 12: 112,774,632 (GRCm39) probably null Het
Clca3a2 A G 3: 144,519,775 (GRCm39) C200R probably benign Het
Col6a5 T A 9: 105,805,363 (GRCm39) Q1181L unknown Het
Copb2 T A 9: 98,456,198 (GRCm39) I244N probably damaging Het
Cpb2 A G 14: 75,512,430 (GRCm39) Y281C probably damaging Het
Disp3 C A 4: 148,325,979 (GRCm39) V1260F probably damaging Het
Dnajc2 C T 5: 21,981,777 (GRCm39) R123Q probably damaging Het
Dpysl2 T C 14: 67,067,425 (GRCm39) N162S probably damaging Het
Dsp T A 13: 38,372,511 (GRCm39) probably null Het
Edc4 T A 8: 106,612,941 (GRCm39) probably null Het
Efcab3 C A 11: 104,601,539 (GRCm39) A284D probably benign Het
Efcab3 G T 11: 104,615,435 (GRCm39) probably null Het
Epm2a T C 10: 11,219,419 (GRCm39) Y69H probably benign Het
Frzb C A 2: 80,248,669 (GRCm39) E262* probably null Het
Gaa T C 11: 119,175,030 (GRCm39) V877A possibly damaging Het
Gpnmb T C 6: 49,028,949 (GRCm39) I489T possibly damaging Het
Gpr31b T C 17: 13,271,104 (GRCm39) T22A probably benign Het
Gys1 T A 7: 45,097,684 (GRCm39) F477Y possibly damaging Het
Hoxc11 A C 15: 102,863,487 (GRCm39) E176A possibly damaging Het
Kcnk13 T A 12: 100,028,076 (GRCm39) F384I probably damaging Het
Ky A G 9: 102,386,349 (GRCm39) E59G probably benign Het
Lama4 T A 10: 38,881,491 (GRCm39) D93E probably damaging Het
Lrrc23 A T 6: 124,755,152 (GRCm39) N128K probably benign Het
Lrrc71 G T 3: 87,650,633 (GRCm39) Q210K possibly damaging Het
Map1a G A 2: 121,135,124 (GRCm39) R1980H probably benign Het
Med15 T C 16: 17,515,977 (GRCm39) D15G unknown Het
Mfng A T 15: 78,657,268 (GRCm39) S69T probably benign Het
Muc16 T G 9: 18,409,866 (GRCm39) S181R probably damaging Het
Mug1 A T 6: 121,857,498 (GRCm39) Q1074L possibly damaging Het
Myorg A G 4: 41,498,028 (GRCm39) I534T probably damaging Het
Nbea T A 3: 55,912,322 (GRCm39) N1155I probably benign Het
Nbeal1 T G 1: 60,240,110 (GRCm39) L159V probably damaging Het
Nudt1 C A 5: 140,323,402 (GRCm39) P118Q possibly damaging Het
Or2q1 A T 6: 42,794,950 (GRCm39) T182S probably benign Het
Or8g37 A C 9: 39,731,154 (GRCm39) Q73P possibly damaging Het
Pcdhga6 T A 18: 37,842,173 (GRCm39) V631D probably benign Het
Pcna A C 2: 132,091,792 (GRCm39) V203G probably damaging Het
Pgf G T 12: 85,222,549 (GRCm39) N33K probably benign Het
Pgm2 T C 5: 64,263,193 (GRCm39) L280P probably damaging Het
Plcg1 G A 2: 160,573,794 (GRCm39) A20T probably benign Het
Pou2af2 G T 9: 51,201,733 (GRCm39) Q108K probably damaging Het
Prdx5 G T 19: 6,884,958 (GRCm39) D126E probably damaging Het
Prkag2 T C 5: 25,200,296 (GRCm39) T20A probably benign Het
Prr14l T A 5: 32,987,431 (GRCm39) Q688L probably damaging Het
Pxdn T G 12: 30,034,903 (GRCm39) D253E possibly damaging Het
Rbm18 A T 2: 36,012,905 (GRCm39) C53* probably null Het
Rprm A T 2: 53,975,270 (GRCm39) L16Q probably benign Het
Saysd1 A G 14: 20,127,576 (GRCm39) F116S probably damaging Het
Scg3 A G 9: 75,589,366 (GRCm39) S96P probably benign Het
Scgb1b3 C T 7: 31,075,078 (GRCm39) L16F unknown Het
Skint6 T C 4: 113,095,566 (GRCm39) N31S probably benign Het
Slc22a2 T C 17: 12,805,770 (GRCm39) probably null Het
Slc8a2 C T 7: 15,874,538 (GRCm39) T262I possibly damaging Het
Smarcc1 A T 9: 109,979,082 (GRCm39) K188N probably damaging Het
Taf6 T C 5: 138,177,088 (GRCm39) T660A possibly damaging Het
Tbx2 C T 11: 85,725,540 (GRCm39) R164C probably damaging Het
Tec T C 5: 72,939,355 (GRCm39) D220G probably null Het
Tfec A T 6: 16,867,464 (GRCm39) W59R probably damaging Het
Tmtc2 G T 10: 105,409,587 (GRCm39) S8R probably benign Het
Tmtc3 A T 10: 100,283,467 (GRCm39) M696K probably benign Het
Trpc3 A T 3: 36,694,882 (GRCm39) S691T possibly damaging Het
Ttf2 A T 3: 100,866,623 (GRCm39) M503K probably benign Het
Ttll7 A G 3: 146,619,031 (GRCm39) H312R probably damaging Het
Ttn T C 2: 76,598,032 (GRCm39) Y19627C probably damaging Het
Ugt2b35 T C 5: 87,149,177 (GRCm39) S143P probably benign Het
Usp53 A G 3: 122,751,299 (GRCm39) S253P probably damaging Het
Utp18 A G 11: 93,776,206 (GRCm39) V93A probably benign Het
Utrn T C 10: 12,277,079 (GRCm39) N3413D possibly damaging Het
Zhx1 T C 15: 57,916,647 (GRCm39) D533G possibly damaging Het
Other mutations in Sh3tc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01146:Sh3tc2 APN 18 62,122,582 (GRCm39) missense probably damaging 1.00
IGL01523:Sh3tc2 APN 18 62,123,954 (GRCm39) missense probably benign 0.00
IGL02036:Sh3tc2 APN 18 62,147,978 (GRCm39) missense probably benign 0.17
IGL02189:Sh3tc2 APN 18 62,123,693 (GRCm39) missense probably benign 0.00
IGL02555:Sh3tc2 APN 18 62,123,308 (GRCm39) missense probably damaging 0.99
IGL02827:Sh3tc2 APN 18 62,146,230 (GRCm39) missense probably benign 0.34
IGL03033:Sh3tc2 APN 18 62,107,549 (GRCm39) missense possibly damaging 0.90
IGL03040:Sh3tc2 APN 18 62,122,481 (GRCm39) missense probably benign 0.00
IGL03062:Sh3tc2 APN 18 62,144,951 (GRCm39) missense probably damaging 1.00
IGL03386:Sh3tc2 APN 18 62,106,382 (GRCm39) missense probably benign 0.39
3-1:Sh3tc2 UTSW 18 62,124,209 (GRCm39) missense probably damaging 1.00
R1085:Sh3tc2 UTSW 18 62,148,067 (GRCm39) missense probably benign 0.01
R1166:Sh3tc2 UTSW 18 62,124,247 (GRCm39) missense probably damaging 0.99
R1182:Sh3tc2 UTSW 18 62,101,171 (GRCm39) missense probably benign 0.17
R1521:Sh3tc2 UTSW 18 62,141,559 (GRCm39) missense probably damaging 0.96
R1636:Sh3tc2 UTSW 18 62,122,792 (GRCm39) missense probably damaging 0.98
R1872:Sh3tc2 UTSW 18 62,144,954 (GRCm39) missense probably damaging 1.00
R1884:Sh3tc2 UTSW 18 62,141,646 (GRCm39) missense probably damaging 1.00
R1964:Sh3tc2 UTSW 18 62,124,226 (GRCm39) nonsense probably null
R2034:Sh3tc2 UTSW 18 62,120,737 (GRCm39) missense probably damaging 1.00
R2046:Sh3tc2 UTSW 18 62,123,914 (GRCm39) missense probably benign
R2113:Sh3tc2 UTSW 18 62,146,176 (GRCm39) missense probably damaging 1.00
R2363:Sh3tc2 UTSW 18 62,123,966 (GRCm39) missense probably benign 0.07
R2940:Sh3tc2 UTSW 18 62,122,757 (GRCm39) missense probably damaging 1.00
R2979:Sh3tc2 UTSW 18 62,122,556 (GRCm39) missense probably damaging 1.00
R3717:Sh3tc2 UTSW 18 62,123,414 (GRCm39) missense probably benign 0.04
R3718:Sh3tc2 UTSW 18 62,123,414 (GRCm39) missense probably benign 0.04
R4334:Sh3tc2 UTSW 18 62,123,392 (GRCm39) missense probably damaging 1.00
R4454:Sh3tc2 UTSW 18 62,140,844 (GRCm39) missense probably damaging 1.00
R4503:Sh3tc2 UTSW 18 62,107,694 (GRCm39) missense probably damaging 0.96
R4515:Sh3tc2 UTSW 18 62,120,764 (GRCm39) splice site probably null
R4659:Sh3tc2 UTSW 18 62,107,580 (GRCm39) missense probably benign 0.00
R4859:Sh3tc2 UTSW 18 62,146,164 (GRCm39) missense probably benign 0.00
R4901:Sh3tc2 UTSW 18 62,123,506 (GRCm39) missense probably benign 0.03
R5033:Sh3tc2 UTSW 18 62,147,962 (GRCm39) splice site probably null
R5269:Sh3tc2 UTSW 18 62,108,684 (GRCm39) missense probably benign 0.00
R5439:Sh3tc2 UTSW 18 62,122,704 (GRCm39) nonsense probably null
R5467:Sh3tc2 UTSW 18 62,123,759 (GRCm39) missense possibly damaging 0.81
R5468:Sh3tc2 UTSW 18 62,106,502 (GRCm39) critical splice donor site probably null
R5527:Sh3tc2 UTSW 18 62,144,932 (GRCm39) missense probably benign 0.00
R5829:Sh3tc2 UTSW 18 62,123,986 (GRCm39) missense probably benign 0.19
R5880:Sh3tc2 UTSW 18 62,106,382 (GRCm39) missense probably benign 0.39
R5948:Sh3tc2 UTSW 18 62,146,176 (GRCm39) missense probably damaging 1.00
R5951:Sh3tc2 UTSW 18 62,123,078 (GRCm39) missense probably damaging 1.00
R5973:Sh3tc2 UTSW 18 62,110,975 (GRCm39) missense probably benign 0.06
R5995:Sh3tc2 UTSW 18 62,123,081 (GRCm39) missense probably damaging 0.96
R6309:Sh3tc2 UTSW 18 62,101,081 (GRCm39) missense probably damaging 0.98
R6339:Sh3tc2 UTSW 18 62,108,642 (GRCm39) nonsense probably null
R6648:Sh3tc2 UTSW 18 62,148,111 (GRCm39) missense probably benign 0.00
R6723:Sh3tc2 UTSW 18 62,111,025 (GRCm39) missense probably damaging 1.00
R6752:Sh3tc2 UTSW 18 62,094,108 (GRCm39) missense probably benign 0.00
R7367:Sh3tc2 UTSW 18 62,122,577 (GRCm39) missense probably benign 0.00
R7664:Sh3tc2 UTSW 18 62,148,042 (GRCm39) nonsense probably null
R7727:Sh3tc2 UTSW 18 62,122,651 (GRCm39) missense probably benign 0.02
R7823:Sh3tc2 UTSW 18 62,086,188 (GRCm39) start codon destroyed probably null 1.00
R8191:Sh3tc2 UTSW 18 62,106,429 (GRCm39) missense probably damaging 1.00
R8204:Sh3tc2 UTSW 18 62,086,200 (GRCm39) missense probably damaging 1.00
R8219:Sh3tc2 UTSW 18 62,144,932 (GRCm39) missense probably benign 0.00
R8260:Sh3tc2 UTSW 18 62,146,137 (GRCm39) missense probably damaging 1.00
R8413:Sh3tc2 UTSW 18 62,148,142 (GRCm39) missense probably benign 0.30
R8413:Sh3tc2 UTSW 18 62,123,873 (GRCm39) missense probably damaging 1.00
R9034:Sh3tc2 UTSW 18 62,107,571 (GRCm39) missense probably benign 0.07
R9043:Sh3tc2 UTSW 18 62,122,961 (GRCm39) missense possibly damaging 0.89
R9218:Sh3tc2 UTSW 18 62,101,101 (GRCm39) missense probably benign 0.09
R9249:Sh3tc2 UTSW 18 62,107,598 (GRCm39) missense possibly damaging 0.52
Z1176:Sh3tc2 UTSW 18 62,122,980 (GRCm39) nonsense probably null
Z1177:Sh3tc2 UTSW 18 62,148,062 (GRCm39) missense probably damaging 0.96
Z1177:Sh3tc2 UTSW 18 62,124,389 (GRCm39) missense probably benign 0.09
Z1177:Sh3tc2 UTSW 18 62,122,759 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGAAGCCATCCAGAATCTCCAG -3'
(R):5'- AGCCTTCGTGATCTAGAAAAGC -3'

Sequencing Primer
(F):5'- GCCATCCAGAATCTCCAGAATGATC -3'
(R):5'- CTTCGTGATCTAGAAAAGCCAAGATG -3'
Posted On 2019-06-26