Incidental Mutation 'R6164:Sh3tc1'
ID 490033
Institutional Source Beutler Lab
Gene Symbol Sh3tc1
Ensembl Gene ENSMUSG00000036553
Gene Name SH3 domain and tetratricopeptide repeats 1
Synonyms
MMRRC Submission 044310-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R6164 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 35854524-35897331 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 35863590 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 866 (V866L)
Ref Sequence ENSEMBL: ENSMUSP00000144175 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070203] [ENSMUST00000129664] [ENSMUST00000201511]
AlphaFold G3X9F6
Predicted Effect probably benign
Transcript: ENSMUST00000070203
AA Change: V866L

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000070610
Gene: ENSMUSG00000036553
AA Change: V866L

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 unknown
Transcript: ENSMUST00000127825
AA Change: V804L
SMART Domains Protein: ENSMUSP00000115376
Gene: ENSMUSG00000036553
AA Change: V804L

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 benign
Transcript: ENSMUST00000129664
SMART Domains Protein: ENSMUSP00000119811
Gene: ENSMUSG00000036553

DomainStartEndE-ValueType
low complexity region 34 42 N/A INTRINSIC
SH3 76 130 2.41e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151555
Predicted Effect probably benign
Transcript: ENSMUST00000201511
AA Change: V866L

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000144175
Gene: ENSMUSG00000036553
AA Change: V866L

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
Meta Mutation Damage Score 0.1349 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.3%
Validation Efficiency 98% (61/62)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anpep A G 7: 79,491,953 (GRCm39) I16T possibly damaging Het
Ap1s1 T C 5: 137,066,240 (GRCm39) probably benign Het
Atp1a2 T C 1: 172,106,459 (GRCm39) S848G probably damaging Het
Bche T A 3: 73,608,389 (GRCm39) I346F possibly damaging Het
Ccdc148 T A 2: 58,713,645 (GRCm39) Y502F probably damaging Het
Ccdc88c T C 12: 100,919,642 (GRCm39) M416V probably damaging Het
Cdk17 T C 10: 93,071,331 (GRCm39) S351P probably benign Het
Cfap100 T C 6: 90,392,768 (GRCm39) E114G probably benign Het
Clec4a4 T C 6: 122,968,833 (GRCm39) I66T possibly damaging Het
Cpeb4 T C 11: 31,870,584 (GRCm39) probably null Het
Cybrd1 T C 2: 70,948,618 (GRCm39) V52A probably damaging Het
Decr1 G A 4: 15,924,347 (GRCm39) A191V probably benign Het
Dnah5 A T 15: 28,378,489 (GRCm39) I2942L probably benign Het
Ehd4 C T 2: 119,932,689 (GRCm39) V246I possibly damaging Het
Ercc6l2 A G 13: 64,020,158 (GRCm39) probably benign Het
Exoc4 T A 6: 33,309,218 (GRCm39) M280K probably damaging Het
Fmo1 T G 1: 162,678,979 (GRCm39) E89A probably benign Het
Foxm1 A G 6: 128,350,898 (GRCm39) D733G probably benign Het
Garin5b T C 7: 4,773,677 (GRCm39) T73A probably damaging Het
Gulp1 A C 1: 44,793,511 (GRCm39) R57S probably damaging Het
Hdac1-ps T C 17: 78,799,716 (GRCm39) S236P probably damaging Het
Hdac4 G T 1: 91,957,876 (GRCm39) A46E probably benign Het
Hspg2 T C 4: 137,241,966 (GRCm39) S567P possibly damaging Het
Insyn1 C A 9: 58,406,530 (GRCm39) P147T probably damaging Het
Iqgap1 A C 7: 80,458,854 (GRCm39) C21W unknown Het
Isoc2a T C 7: 4,894,488 (GRCm39) L57P probably damaging Het
Krt34 G A 11: 99,929,272 (GRCm39) Q313* probably null Het
Krt6a C T 15: 101,601,008 (GRCm39) V263I probably damaging Het
Man2a1 A G 17: 65,040,719 (GRCm39) I106V possibly damaging Het
Muc16 T C 9: 18,469,675 (GRCm39) D7300G probably damaging Het
Muc5b A T 7: 141,417,082 (GRCm39) S3343C possibly damaging Het
Mup11 C T 4: 60,618,239 (GRCm39) E21K possibly damaging Het
Myo3b T A 2: 70,075,754 (GRCm39) probably null Het
Nlrp4c T C 7: 6,095,507 (GRCm39) L795P probably damaging Het
Nup160 T A 2: 90,548,220 (GRCm39) Y984* probably null Het
Nwd1 C T 8: 73,388,814 (GRCm39) R81W probably damaging Het
Or2d3 G T 7: 106,491,135 (GRCm39) Y60* probably null Het
Or5p52 A G 7: 107,502,595 (GRCm39) T224A probably benign Het
Osmr A G 15: 6,889,833 (GRCm39) V5A probably benign Het
Pabir1 T A 19: 24,454,450 (GRCm39) M91L probably benign Het
Pcsk5 A G 19: 17,814,317 (GRCm39) probably null Het
Pex11a G A 7: 79,387,127 (GRCm39) T235M probably damaging Het
Pik3r6 A G 11: 68,442,799 (GRCm39) T730A probably benign Het
Ppp1r9a C T 6: 5,110,715 (GRCm39) probably benign Het
Ppp2r2d T C 7: 138,474,742 (GRCm39) I41T probably damaging Het
Prdm1 C T 10: 44,326,191 (GRCm39) R126H probably damaging Het
Primpol C T 8: 47,039,477 (GRCm39) R381H probably benign Het
Prl7a1 C A 13: 27,821,626 (GRCm39) Q102H probably benign Het
Rbpjl T C 2: 164,252,799 (GRCm39) L284P probably damaging Het
Rgs21 A T 1: 144,417,035 (GRCm39) C6S probably benign Het
Rnasel T C 1: 153,630,138 (GRCm39) V218A probably benign Het
Sag G T 1: 87,752,175 (GRCm39) V223L probably damaging Het
Sdk1 C T 5: 142,117,824 (GRCm39) T1574M probably damaging Het
Secisbp2 G A 13: 51,833,896 (GRCm39) V679M probably damaging Het
Sele T A 1: 163,879,386 (GRCm39) probably null Het
Senp7 T A 16: 55,990,117 (GRCm39) L622M probably damaging Het
Sgo1 G A 17: 53,983,981 (GRCm39) R466C probably damaging Het
Snrnp25 T A 11: 32,157,647 (GRCm39) V75D probably benign Het
Syne1 C T 10: 5,011,429 (GRCm39) C7899Y probably damaging Het
U2af1l4 T C 7: 30,264,007 (GRCm39) S55P probably damaging Het
Vmn1r23 A G 6: 57,903,040 (GRCm39) I246T possibly damaging Het
Vmn1r66 T A 7: 10,008,329 (GRCm39) R235* probably null Het
Wnk4 C T 11: 101,165,894 (GRCm39) A807V possibly damaging 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
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
R8782:Sh3tc1 UTSW 5 35,871,548 (GRCm39) missense possibly damaging 0.93
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'- ACACAGGGCCCCAAAGTTAG -3'
(R):5'- CCAGATTGCTTACTACCTCAGACAG -3'

Sequencing Primer
(F):5'- AGTTAGCCAGGACCACTGC -3'
(R):5'- AGCCTGGCTCAACTGTACAGTC -3'
Posted On 2017-10-10