Incidental Mutation 'R6339:Sh3tc2'
ID 513859
Institutional Source Beutler Lab
Gene Symbol Sh3tc2
Ensembl Gene ENSMUSG00000045629
Gene Name SH3 domain and tetratricopeptide repeats 2
Synonyms D430044G18Rik
MMRRC Submission 044493-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6339 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 62086002-62148790 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 62108642 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Stop codon at position 244 (W244*)
Ref Sequence ENSEMBL: ENSMUSP00000055094 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051720]
AlphaFold Q80VA5
Predicted Effect probably null
Transcript: ENSMUST00000051720
AA Change: W244*
SMART Domains Protein: ENSMUSP00000055094
Gene: ENSMUSG00000045629
AA Change: W244*

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.7%
  • 10x: 98.2%
  • 20x: 94.1%
Validation Efficiency 97% (69/71)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933424G06Rik A T 1: 36,749,542 (GRCm39) probably benign Het
Adgrg6 G T 10: 14,310,091 (GRCm39) S743R probably damaging Het
Ak8 A G 2: 28,624,460 (GRCm39) probably null Het
Alpk2 A G 18: 65,482,877 (GRCm39) M377T probably benign Het
Ap1g1 G A 8: 110,571,000 (GRCm39) V425I possibly damaging Het
Apob A T 12: 8,066,188 (GRCm39) R4353W probably damaging Het
Arhgef38 T C 3: 132,839,423 (GRCm39) K540R probably benign Het
B3galt2 A T 1: 143,522,640 (GRCm39) T259S possibly damaging Het
Btbd8 G A 5: 107,651,583 (GRCm39) V159I probably benign Het
C2cd2l T C 9: 44,224,788 (GRCm39) probably benign Het
Carmil3 T C 14: 55,737,306 (GRCm39) V763A possibly damaging Het
Ccdc171 A T 4: 83,661,234 (GRCm39) T1115S probably damaging Het
Chst2 C T 9: 95,287,803 (GRCm39) G181D probably damaging Het
Col7a1 C T 9: 108,785,701 (GRCm39) T390M unknown Het
Cpt1a A C 19: 3,412,152 (GRCm39) D208A probably benign Het
Crocc2 A G 1: 93,141,754 (GRCm39) E1183G probably benign Het
Defa39 G A 8: 22,193,485 (GRCm39) S45F possibly damaging Het
Dlg5 T A 14: 24,208,128 (GRCm39) H1003L probably damaging Het
Dok2 A T 14: 71,013,158 (GRCm39) I109L probably benign Het
Dpy19l4 A T 4: 11,285,111 (GRCm39) I465K probably damaging Het
Dync1h1 A T 12: 110,612,639 (GRCm39) D2838V probably damaging Het
Frem3 A G 8: 81,339,644 (GRCm39) R646G possibly damaging Het
Gcfc2 T A 6: 81,923,477 (GRCm39) F514I probably damaging Het
Gm8104 T C 14: 42,958,942 (GRCm39) M44T probably benign Het
Golph3l T A 3: 95,524,750 (GRCm39) W334R probably damaging Het
Gpr179 A T 11: 97,235,002 (GRCm39) F443I probably damaging Het
Ift172 A G 5: 31,413,927 (GRCm39) V1467A probably benign Het
Ift172 A T 5: 31,444,289 (GRCm39) D44E probably damaging Het
Il1rl1 C T 1: 40,501,016 (GRCm39) A464V possibly damaging Het
Irx5 A G 8: 93,086,481 (GRCm39) E188G probably damaging Het
Jak1 A G 4: 101,019,123 (GRCm39) V710A probably damaging Het
Kcng4 A T 8: 120,359,693 (GRCm39) F228I probably damaging Het
Lifr A G 15: 7,196,530 (GRCm39) N238S probably benign Het
Ltbp3 C A 19: 5,797,505 (GRCm39) H414Q probably damaging Het
Mcpt8 A G 14: 56,319,794 (GRCm39) C219R probably benign Het
Mepce A T 5: 137,783,950 (GRCm39) N125K possibly damaging Het
Mfap3 T C 11: 57,420,598 (GRCm39) F193S probably damaging Het
Miox T A 15: 89,219,702 (GRCm39) Y63* probably null Het
Msl2 A T 9: 100,978,949 (GRCm39) H441L probably benign Het
Nemp2 T A 1: 52,680,069 (GRCm39) S98T possibly damaging Het
Neto2 G T 8: 86,367,187 (GRCm39) A547E probably benign Het
Nol12 T C 15: 78,825,033 (GRCm39) probably benign Het
Npr3 T C 15: 11,845,361 (GRCm39) I504V probably damaging Het
Or4c106 A G 2: 88,683,215 (GRCm39) D307G probably null Het
Pcdhb3 T C 18: 37,433,998 (GRCm39) probably benign Het
Pear1 C A 3: 87,659,827 (GRCm39) G720W probably damaging Het
Pibf1 T G 14: 99,344,834 (GRCm39) D151E probably damaging Het
Pla2g6 T A 15: 79,193,016 (GRCm39) N217I probably damaging Het
Plcd1 G A 9: 118,904,059 (GRCm39) R292C probably damaging Het
Plcl1 C T 1: 55,735,474 (GRCm39) L272F probably damaging Het
Ppp4r4 A T 12: 103,571,228 (GRCm39) K656* probably null Het
Prr22 G A 17: 57,078,490 (GRCm39) M214I probably benign Het
Ror1 G T 4: 100,269,128 (GRCm39) R322L possibly damaging Het
Slamf6 A G 1: 171,775,615 (GRCm39) N320S probably null Het
Slc1a6 A C 10: 78,635,919 (GRCm39) D328A possibly damaging Het
Sorl1 G T 9: 41,881,038 (GRCm39) T2161K probably benign Het
Spata31e2 T A 1: 26,721,586 (GRCm39) D1198V probably benign Het
Sstr2 T C 11: 113,515,375 (GRCm39) F98S probably damaging Het
Stk33 A T 7: 108,920,672 (GRCm39) D348E probably benign Het
Sulf1 T A 1: 12,908,664 (GRCm39) L559Q probably damaging Het
Syne2 A G 12: 76,035,927 (GRCm39) D3738G probably benign Het
Taok3 A T 5: 117,366,095 (GRCm39) Q382L probably benign Het
Tet2 T A 3: 133,192,178 (GRCm39) H752L possibly damaging Het
Tia1 A C 6: 86,403,638 (GRCm39) K285T probably damaging Het
Tle3 G T 9: 61,309,206 (GRCm39) probably null Het
Top1mt T C 15: 75,537,505 (GRCm39) T414A possibly damaging Het
Ubc A T 5: 125,464,406 (GRCm39) I307N probably damaging Het
Vmn2r96 A T 17: 18,804,124 (GRCm39) D266V possibly damaging Het
Wbp2nl G T 15: 82,183,246 (GRCm39) W13C possibly damaging Het
Zfp456 T A 13: 67,510,483 (GRCm39) K102* probably null Het
Zkscan1 T C 5: 138,091,567 (GRCm39) V100A probably 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
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
R7211:Sh3tc2 UTSW 18 62,122,474 (GRCm39) missense probably benign
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'- TCGCTGGCAGAAATAATTGCAG -3'
(R):5'- TGACCTTCAGTTAACAGGCAAAG -3'

Sequencing Primer
(F):5'- TTGCAGAGCTAGGAAACACC -3'
(R):5'- GGCAAAGACCCCAAGTGTGC -3'
Posted On 2018-04-27