Incidental Mutation 'R8079:Sh3tc1'
ID 629193
Institutional Source Beutler Lab
Gene Symbol Sh3tc1
Ensembl Gene ENSMUSG00000036553
Gene Name SH3 domain and tetratricopeptide repeats 1
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R8079 (G1)
Quality Score 199.009
Status Not validated
Chromosome 5
Chromosomal Location 35854524-35897331 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35864201 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 662 (L662P)
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: L662P

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000070610
Gene: ENSMUSG00000036553
AA Change: L662P

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: L600P

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 possibly damaging
Transcript: ENSMUST00000201511
AA Change: L662P

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000144175
Gene: ENSMUSG00000036553
AA Change: L662P

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: 99.9%
  • 3x: 99.7%
  • 10x: 99.0%
  • 20x: 96.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 A G 5: 124,221,186 (GRCm39) I255T possibly damaging Het
Ablim1 A T 19: 57,170,656 (GRCm39) probably null Het
Akap10 G A 11: 61,820,880 (GRCm39) P8L possibly damaging Het
Ankle2 C T 5: 110,379,182 (GRCm39) A27V probably damaging Het
Anxa8 A G 14: 33,816,769 (GRCm39) T246A probably benign Het
Arhgap5 A G 12: 52,613,988 (GRCm39) N1460S probably benign Het
Arid5b T G 10: 67,934,186 (GRCm39) D572A possibly damaging Het
Atrn T A 2: 130,855,561 (GRCm39) L1278Q probably null Het
AU040320 G T 4: 126,725,953 (GRCm39) K454N possibly damaging Het
Baz2b T A 2: 59,731,112 (GRCm39) R2085W probably damaging Het
Bbx A T 16: 50,030,821 (GRCm39) N649K probably damaging Het
BC034090 G A 1: 155,101,032 (GRCm39) P411S probably damaging Het
Calcoco2 A T 11: 95,998,363 (GRCm39) F20Y probably damaging Het
Carmil2 A G 8: 106,413,393 (GRCm39) R50G probably damaging Het
Catspere2 A G 1: 177,874,525 (GRCm39) T131A probably benign Het
Cdcp1 C A 9: 123,002,855 (GRCm39) V739L probably damaging Het
Chit1 A G 1: 134,071,765 (GRCm39) T92A possibly damaging Het
Clstn3 A G 6: 124,436,763 (GRCm39) I185T probably damaging Het
Dctpp1 C A 7: 126,858,561 (GRCm39) V61L probably damaging Het
Dip2a T C 10: 76,123,155 (GRCm39) T760A probably benign Het
Dock10 C T 1: 80,556,421 (GRCm39) V552I probably benign Het
Dpp8 A G 9: 64,951,017 (GRCm39) E151G probably damaging Het
Dvl2 G C 11: 69,898,344 (GRCm39) R367P possibly damaging Het
Fem1b A T 9: 62,703,643 (GRCm39) I539N probably damaging Het
Frat2 A T 19: 41,836,277 (GRCm39) L25H probably damaging Het
Garnl3 A T 2: 32,908,511 (GRCm39) probably null Het
Gh T C 11: 106,192,253 (GRCm39) H47R possibly damaging Het
Glmp T C 3: 88,233,045 (GRCm39) V61A probably damaging Het
Gm9925 T C 18: 74,198,558 (GRCm39) V129A unknown Het
H2-M9 T A 17: 36,953,025 (GRCm39) E94V probably benign Het
Hira A T 16: 18,744,507 (GRCm39) Q408L probably benign Het
Hook3 A G 8: 26,578,086 (GRCm39) probably null Het
Ifi206 G A 1: 173,308,724 (GRCm39) P424L Het
Impdh2 T C 9: 108,440,524 (GRCm39) V270A probably benign Het
Klhl14 A G 18: 21,785,022 (GRCm39) I135T probably benign Het
Klra10 C A 6: 130,252,738 (GRCm39) V179L probably benign Het
Kmt2c T C 5: 25,507,730 (GRCm39) S3236G probably damaging Het
Krt76 G T 15: 101,796,825 (GRCm39) A358D possibly damaging Het
Lacc1 C A 14: 77,266,992 (GRCm39) G424C probably damaging Het
Limch1 A G 5: 67,204,096 (GRCm39) I878V possibly damaging Het
Lipi C T 16: 75,362,418 (GRCm39) probably null Het
Lrrc17 C T 5: 21,766,069 (GRCm39) R184W probably damaging Het
Mllt10 A G 2: 18,128,567 (GRCm39) N183D probably damaging Het
Mterf2 C T 10: 84,956,027 (GRCm39) G199D probably damaging Het
Mucl3 T C 17: 35,949,084 (GRCm39) T172A unknown Het
Nat8f4 A T 6: 85,877,976 (GRCm39) S182R probably benign Het
Ndrg3 C A 2: 156,779,452 (GRCm39) E238* probably null Het
Nop14 A T 5: 34,811,805 (GRCm39) L194H probably damaging Het
Obscn T C 11: 58,972,731 (GRCm39) E2105G possibly damaging Het
Or5b104 A C 19: 13,072,648 (GRCm39) Y121* probably null Het
Or5g9 A T 2: 85,552,387 (GRCm39) T213S probably benign Het
Or7g17 A T 9: 18,768,725 (GRCm39) Y259F possibly damaging Het
Or8k32 T A 2: 86,368,725 (GRCm39) H176L possibly damaging Het
Pbx3 C T 2: 34,068,240 (GRCm39) A320T probably benign Het
Pcdhac2 A T 18: 37,279,197 (GRCm39) S726C probably damaging Het
Pcdhgb2 A G 18: 37,823,816 (GRCm39) D269G probably damaging Het
Pcgf6 A T 19: 47,034,271 (GRCm39) S257T probably damaging Het
Pclo A T 5: 14,590,472 (GRCm39) H924L unknown Het
Per3 T A 4: 151,127,135 (GRCm39) T129S possibly damaging Het
Pi4ka A T 16: 17,120,924 (GRCm39) M1270K Het
Plec G A 15: 76,063,750 (GRCm39) Q2277* probably null Het
Pnma1 T A 12: 84,194,109 (GRCm39) K198M probably damaging Het
Prc1 T A 7: 79,954,515 (GRCm39) F196L possibly damaging Het
Prkcz T C 4: 155,441,962 (GRCm39) T57A probably damaging Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Robo4 A G 9: 37,313,931 (GRCm39) M61V possibly damaging Het
Rps12 C T 10: 23,661,575 (GRCm39) V79I probably benign Het
Rsph3a A G 17: 8,198,020 (GRCm39) K466E probably benign Het
Scly A T 1: 91,236,089 (GRCm39) I168F probably damaging Het
Setd1a T A 7: 127,384,225 (GRCm39) F359I unknown Het
Slc12a5 T C 2: 164,834,372 (GRCm39) W798R probably damaging Het
Slc16a6 C T 11: 109,364,281 (GRCm39) R13Q unknown Het
Slco1a8 T G 6: 141,933,460 (GRCm39) M462L probably benign Het
Smarcad1 A G 6: 65,029,766 (GRCm39) D118G possibly damaging Het
Sos2 T C 12: 69,653,989 (GRCm39) T788A probably damaging Het
Syvn1 A G 19: 6,098,396 (GRCm39) E75G probably null Het
Thpo T C 16: 20,545,144 (GRCm39) E103G probably benign Het
Trav7d-3 A T 14: 52,982,193 (GRCm39) E78V possibly damaging Het
Uap1 A G 1: 169,986,332 (GRCm39) S217P probably damaging Het
Unc45a T G 7: 79,981,310 (GRCm39) R497S probably damaging Het
Upf1 A G 8: 70,791,534 (GRCm39) probably null Het
Usp47 A T 7: 111,646,177 (GRCm39) K28M probably damaging Het
Wdr72 A C 9: 74,126,054 (GRCm39) T1062P probably damaging Het
Wnt7b A T 15: 85,421,646 (GRCm39) C339S probably damaging Het
Zfp954 G T 7: 7,118,470 (GRCm39) T358K probably benign Het
Zmynd15 G T 11: 70,350,278 (GRCm39) 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
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'- GCCATAAATGTCAGCCAGAAGC -3'
(R):5'- ACTTTGAAGAGGCACTGGG -3'

Sequencing Primer
(F):5'- CAGGTAACAGTCTTCAGGCCATG -3'
(R):5'- TTTGAAGAGGCACTGGGAGCTC -3'
Posted On 2020-06-30