Incidental Mutation 'R8782:Sh3tc1'
ID 670315
Institutional Source Beutler Lab
Gene Symbol Sh3tc1
Ensembl Gene ENSMUSG00000036553
Gene Name SH3 domain and tetratricopeptide repeats 1
Synonyms
MMRRC Submission 068630-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R8782 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 35854524-35897331 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 35871548 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 328 (M328K)
Ref Sequence ENSEMBL: ENSMUSP00000070610 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070203] [ENSMUST00000129664] [ENSMUST00000201511]
AlphaFold G3X9F6
Predicted Effect possibly damaging
Transcript: ENSMUST00000070203
AA Change: M328K

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000070610
Gene: ENSMUSG00000036553
AA Change: M328K

DomainStartEndE-ValueType
low complexity region 6 15 N/A INTRINSIC
low complexity region 101 117 N/A INTRINSIC
low complexity region 270 278 N/A INTRINSIC
SH3 312 371 1.72e-6 SMART
low complexity region 381 397 N/A INTRINSIC
low complexity region 422 434 N/A INTRINSIC
low complexity region 541 552 N/A INTRINSIC
TPR 565 598 3.41e1 SMART
Blast:TPR 607 639 2e-6 BLAST
TPR 668 701 3.37e-2 SMART
TPR 796 829 6.4e1 SMART
Blast:TPR 874 902 2e-6 BLAST
TPR 913 946 9.99e1 SMART
TPR 1202 1235 4.31e0 SMART
low complexity region 1266 1277 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127288
Predicted Effect
SMART Domains Protein: ENSMUSP00000115376
Gene: ENSMUSG00000036553
AA Change: M266K

DomainStartEndE-ValueType
low complexity region 40 56 N/A INTRINSIC
low complexity region 209 217 N/A INTRINSIC
SH3 251 310 1.72e-6 SMART
low complexity region 320 336 N/A INTRINSIC
low complexity region 361 373 N/A INTRINSIC
low complexity region 480 491 N/A INTRINSIC
TPR 504 537 3.41e1 SMART
Blast:TPR 546 578 2e-6 BLAST
TPR 607 640 3.37e-2 SMART
TPR 735 768 6.4e1 SMART
Blast:TPR 813 841 2e-6 BLAST
TPR 852 885 9.99e1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000129664
AA Change: M92K

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000119811
Gene: ENSMUSG00000036553
AA Change: M92K

DomainStartEndE-ValueType
low complexity region 34 42 N/A INTRINSIC
SH3 76 130 2.41e-1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000201511
AA Change: M328K

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000144175
Gene: ENSMUSG00000036553
AA Change: M328K

DomainStartEndE-ValueType
low complexity region 6 15 N/A INTRINSIC
low complexity region 101 117 N/A INTRINSIC
low complexity region 270 278 N/A INTRINSIC
SH3 312 371 1.72e-6 SMART
low complexity region 381 397 N/A INTRINSIC
low complexity region 422 434 N/A INTRINSIC
low complexity region 541 552 N/A INTRINSIC
TPR 565 598 3.41e1 SMART
Blast:TPR 607 639 2e-6 BLAST
TPR 668 701 3.37e-2 SMART
TPR 796 829 6.4e1 SMART
Blast:TPR 874 902 2e-6 BLAST
TPR 913 946 9.99e1 SMART
TPR 1202 1235 4.31e0 SMART
low complexity region 1266 1277 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 99% (73/74)
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik A G 9: 55,910,242 (GRCm39) probably null Het
Abhd16b G T 2: 181,136,208 (GRCm39) R370L probably benign Het
Acox2 T A 14: 8,250,035 (GRCm38) T342S probably damaging Het
Adamts12 A T 15: 11,237,678 (GRCm39) Q329L probably damaging Het
Aimp1 T C 3: 132,373,242 (GRCm39) M233V possibly damaging Het
Atg16l1 A G 1: 87,714,010 (GRCm39) T474A possibly damaging Het
Atp1a1 T C 3: 101,501,533 (GRCm39) T57A possibly damaging Het
Bcat2 A G 7: 45,234,917 (GRCm39) D205G probably benign Het
Brd1 G T 15: 88,614,834 (GRCm39) C20* probably null Het
Camsap2 T C 1: 136,204,957 (GRCm39) M519V Het
Caprin1 T A 2: 103,603,133 (GRCm39) T477S probably benign Het
Cdk5rap2 G T 4: 70,161,712 (GRCm39) Q1516K possibly damaging Het
Cep97 T C 16: 55,726,084 (GRCm39) D673G probably benign Het
Chat A T 14: 32,146,155 (GRCm39) D339E probably benign Het
Col28a1 G A 6: 8,175,227 (GRCm39) S207F unknown Het
Commd10 T A 18: 47,096,809 (GRCm39) L72Q probably damaging Het
Crim1 T C 17: 78,508,306 (GRCm39) C37R probably damaging Het
Csgalnact1 T A 8: 68,811,307 (GRCm39) K454N probably damaging Het
Ctif G T 18: 75,654,868 (GRCm39) H219Q probably benign Het
Ddx10 A T 9: 53,146,588 (GRCm39) F211L probably damaging Het
Dhrs2 A T 14: 55,473,538 (GRCm39) I66F possibly damaging Het
Dmtf1 A T 5: 9,179,168 (GRCm39) D343E probably damaging Het
Dync2i1 C T 12: 116,205,332 (GRCm39) R419H probably damaging Het
Fam120b A T 17: 15,622,472 (GRCm39) Q150L probably damaging Het
Fam217a G A 13: 35,095,033 (GRCm39) P242L probably benign Het
Gcnt2 A G 13: 41,072,229 (GRCm39) T291A probably damaging Het
Gm14305 T G 2: 176,413,213 (GRCm39) C368W possibly damaging Het
Gpr158 A G 2: 21,404,149 (GRCm39) D307G probably damaging Het
Hcls1 A G 16: 36,777,663 (GRCm39) M261V probably benign Het
Hmcn1 A G 1: 150,540,636 (GRCm39) M2891T probably benign Het
Ighv1-31 A T 12: 114,793,305 (GRCm39) W5R possibly damaging Het
Impg2 A G 16: 56,079,818 (GRCm39) T541A probably damaging Het
Ints1 A T 5: 139,744,952 (GRCm39) L1452Q probably benign Het
Kcnc2 T A 10: 112,292,437 (GRCm39) S542T probably benign Het
Kif18a C T 2: 109,127,118 (GRCm39) R351C probably damaging Het
Lactbl1 T G 4: 136,358,329 (GRCm39) L100R possibly damaging Het
Loxl3 T C 6: 83,025,051 (GRCm39) S260P probably benign Het
Lrba A T 3: 86,549,976 (GRCm39) Y2315F probably benign Het
Lrrc32 A T 7: 98,148,270 (GRCm39) N350I probably damaging Het
Lyn C A 4: 3,783,055 (GRCm39) F429L probably damaging Het
Matk A G 10: 81,098,294 (GRCm39) K402E probably damaging Het
Mau2 T C 8: 70,485,845 (GRCm39) E121G possibly damaging Het
Mrgprx2 A G 7: 48,132,299 (GRCm39) L173P probably damaging Het
Mroh1 A G 15: 76,298,496 (GRCm39) T369A possibly damaging Het
Myh6 A G 14: 55,187,357 (GRCm39) L1308P possibly damaging Het
Nbeal2 T C 9: 110,459,873 (GRCm39) D1895G probably benign Het
Ncr1 A G 7: 4,340,763 (GRCm39) T6A probably benign Het
Neb T A 2: 52,078,785 (GRCm39) E5819D probably benign Het
Neurod4 T C 10: 130,106,948 (GRCm39) N109D probably damaging Het
Nsd2 A T 5: 34,000,485 (GRCm39) M1L probably benign Het
Nwd2 A G 5: 63,882,540 (GRCm39) Y64C probably damaging Het
Olfm2 T A 9: 20,579,501 (GRCm39) N417Y probably damaging Het
Oog3 T A 4: 143,885,962 (GRCm39) D212V probably benign Het
Or13c25 T A 4: 52,911,693 (GRCm39) M34L probably benign Het
Or5p1 A T 7: 107,916,296 (GRCm39) H65L probably damaging Het
Parp1 A G 1: 180,417,127 (GRCm39) K637R probably benign Het
Pcdhga3 T C 18: 37,807,865 (GRCm39) L106P probably damaging Het
Pdk4 T C 6: 5,494,962 (GRCm39) N67S possibly damaging Het
Plcxd3 A G 15: 4,546,250 (GRCm39) T85A probably benign Het
Plxna1 T C 6: 89,300,220 (GRCm39) Y1621C probably damaging Het
Pnliprp1 T A 19: 58,719,025 (GRCm39) M108K probably damaging Het
Pou3f1 GCACCACCACCACCACCAC GCACCACCACCACCAC 4: 124,552,807 (GRCm39) probably benign Het
Prl8a1 A T 13: 27,758,011 (GRCm39) C233S probably damaging Het
R3hdm2 T G 10: 127,293,521 (GRCm39) S142A probably damaging Het
Sgo2a T A 1: 58,056,616 (GRCm39) probably benign Het
Sim1 A G 10: 50,772,165 (GRCm39) E58G probably benign Het
Slc35e3 A G 10: 117,580,798 (GRCm39) Y169H probably damaging Het
Slc8a1 T C 17: 81,955,442 (GRCm39) D532G probably damaging Het
Speer4a1 T A 5: 26,241,754 (GRCm39) H124L probably benign Het
Stab2 T A 10: 86,735,685 (GRCm39) T1299S probably benign Het
Tesmin T C 19: 3,445,965 (GRCm39) V237A probably benign Het
Trappc11 A T 8: 47,951,701 (GRCm39) I984N probably benign Het
Ube2q2 G A 9: 55,070,354 (GRCm39) probably null Het
Vmn1r169 A G 7: 23,277,403 (GRCm39) D265G possibly damaging Het
Vps13b G T 15: 35,422,483 (GRCm39) V148L possibly damaging Het
Vwce T C 19: 10,615,491 (GRCm39) V124A probably benign Het
Zc3h15 G A 2: 83,491,787 (GRCm39) R292H probably benign Het
Other mutations in Sh3tc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00234:Sh3tc1 APN 5 35,868,301 (GRCm39) missense probably damaging 1.00
IGL01019:Sh3tc1 APN 5 35,860,719 (GRCm39) missense probably damaging 1.00
IGL01725:Sh3tc1 APN 5 35,857,660 (GRCm39) missense probably benign 0.08
IGL02069:Sh3tc1 APN 5 35,876,339 (GRCm39) missense probably benign 0.45
IGL02153:Sh3tc1 APN 5 35,860,696 (GRCm39) missense probably damaging 1.00
IGL02269:Sh3tc1 APN 5 35,863,628 (GRCm39) missense probably benign 0.21
IGL02609:Sh3tc1 APN 5 35,864,516 (GRCm39) missense probably damaging 0.99
IGL02984:Sh3tc1 UTSW 5 35,871,403 (GRCm39) splice site probably null
R0280:Sh3tc1 UTSW 5 35,863,361 (GRCm39) missense probably damaging 1.00
R0305:Sh3tc1 UTSW 5 35,881,343 (GRCm39) missense probably benign
R0322:Sh3tc1 UTSW 5 35,863,905 (GRCm39) missense possibly damaging 0.86
R0485:Sh3tc1 UTSW 5 35,859,356 (GRCm39) splice site probably benign
R0511:Sh3tc1 UTSW 5 35,860,806 (GRCm39) missense probably damaging 1.00
R0513:Sh3tc1 UTSW 5 35,857,651 (GRCm39) missense possibly damaging 0.87
R0523:Sh3tc1 UTSW 5 35,881,410 (GRCm39) small deletion probably benign
R0550:Sh3tc1 UTSW 5 35,857,128 (GRCm39) missense probably damaging 0.99
R0676:Sh3tc1 UTSW 5 35,876,458 (GRCm39) splice site probably benign
R1485:Sh3tc1 UTSW 5 35,876,370 (GRCm39) missense probably benign 0.00
R1559:Sh3tc1 UTSW 5 35,860,693 (GRCm39) critical splice donor site probably null
R1599:Sh3tc1 UTSW 5 35,864,856 (GRCm39) missense probably benign 0.05
R1759:Sh3tc1 UTSW 5 35,863,248 (GRCm39) missense possibly damaging 0.95
R1808:Sh3tc1 UTSW 5 35,863,268 (GRCm39) missense probably benign 0.01
R1816:Sh3tc1 UTSW 5 35,857,928 (GRCm39) critical splice donor site probably null
R2036:Sh3tc1 UTSW 5 35,873,508 (GRCm39) missense probably benign 0.01
R2092:Sh3tc1 UTSW 5 35,858,002 (GRCm39) missense probably damaging 1.00
R2944:Sh3tc1 UTSW 5 35,871,504 (GRCm39) missense probably damaging 1.00
R4258:Sh3tc1 UTSW 5 35,864,322 (GRCm39) missense probably benign 0.00
R4556:Sh3tc1 UTSW 5 35,864,426 (GRCm39) missense probably damaging 1.00
R4647:Sh3tc1 UTSW 5 35,863,662 (GRCm39) missense probably damaging 1.00
R5011:Sh3tc1 UTSW 5 35,857,633 (GRCm39) missense probably damaging 1.00
R5740:Sh3tc1 UTSW 5 35,864,399 (GRCm39) missense probably benign 0.00
R6023:Sh3tc1 UTSW 5 35,864,295 (GRCm39) nonsense probably null
R6164:Sh3tc1 UTSW 5 35,863,590 (GRCm39) missense probably benign 0.05
R6262:Sh3tc1 UTSW 5 35,857,117 (GRCm39) missense probably damaging 1.00
R6433:Sh3tc1 UTSW 5 35,863,941 (GRCm39) missense probably damaging 0.99
R6932:Sh3tc1 UTSW 5 35,864,778 (GRCm39) missense probably benign 0.01
R6986:Sh3tc1 UTSW 5 35,881,288 (GRCm39) missense probably benign
R7098:Sh3tc1 UTSW 5 35,859,358 (GRCm39) splice site probably null
R7502:Sh3tc1 UTSW 5 35,863,406 (GRCm39) missense probably damaging 0.96
R7737:Sh3tc1 UTSW 5 35,881,297 (GRCm39) missense probably benign 0.15
R7792:Sh3tc1 UTSW 5 35,868,295 (GRCm39) missense probably damaging 0.97
R8079:Sh3tc1 UTSW 5 35,864,201 (GRCm39) missense possibly damaging 0.78
R8154:Sh3tc1 UTSW 5 35,875,696 (GRCm39) missense probably damaging 1.00
R8267:Sh3tc1 UTSW 5 35,863,751 (GRCm39) missense probably benign 0.01
R8300:Sh3tc1 UTSW 5 35,854,792 (GRCm39) missense probably benign 0.00
R8416:Sh3tc1 UTSW 5 35,868,256 (GRCm39) missense probably damaging 0.99
R8459:Sh3tc1 UTSW 5 35,878,933 (GRCm39) missense probably benign
R8699:Sh3tc1 UTSW 5 35,859,235 (GRCm39) missense probably damaging 1.00
R8754:Sh3tc1 UTSW 5 35,863,802 (GRCm39) missense probably benign 0.07
R9044:Sh3tc1 UTSW 5 35,854,834 (GRCm39) missense possibly damaging 0.84
R9047:Sh3tc1 UTSW 5 35,863,827 (GRCm39) missense probably benign
R9092:Sh3tc1 UTSW 5 35,874,321 (GRCm39) missense probably benign 0.00
R9771:Sh3tc1 UTSW 5 35,873,654 (GRCm39) missense probably damaging 1.00
X0061:Sh3tc1 UTSW 5 35,864,153 (GRCm39) missense probably damaging 1.00
Z1176:Sh3tc1 UTSW 5 35,871,573 (GRCm39) missense possibly damaging 0.62
Predicted Primers PCR Primer
(F):5'- TGGTTCCTGAGAGGCTAACAG -3'
(R):5'- AACCTCCAGAGTCAGGCTTC -3'

Sequencing Primer
(F):5'- CTAACAGAGGGTGGCAGGATCC -3'
(R):5'- CAGAGTCAGGCTTCATTTCACATAC -3'
Posted On 2021-04-30