Incidental Mutation 'IGL02609:Sh3tc1'
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ID300409
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sh3tc1
Ensembl Gene ENSMUSG00000036553
Gene NameSH3 domain and tetratricopeptide repeats 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.088) question?
Stock #IGL02609
Quality Score
Status
Chromosome5
Chromosomal Location35697180-35739987 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 35707172 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 495 (K495R)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070203] [ENSMUST00000129664] [ENSMUST00000201511]
Predicted Effect probably benign
Transcript: ENSMUST00000070203
AA Change: K557R

PolyPhen 2 Score 0.344 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000070610
Gene: ENSMUSG00000036553
AA Change: K557R

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 probably damaging
Transcript: ENSMUST00000127825
AA Change: K495R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000115376
Gene: ENSMUSG00000036553
AA Change: K495R

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: K557R

PolyPhen 2 Score 0.344 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000144175
Gene: ENSMUSG00000036553
AA Change: K557R

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210407C18Rik A T 11: 58,612,616 C29S probably damaging Het
A930011G23Rik A G 5: 99,233,995 probably benign Het
Adcy10 T G 1: 165,538,475 Y520* probably null Het
Agrn A T 4: 156,175,223 probably benign Het
AI661453 A T 17: 47,468,372 probably benign Het
Arhgap6 A G X: 169,178,066 probably benign Het
Asxl2 T C 12: 3,500,018 S587P probably damaging Het
B3gntl1 A G 11: 121,644,601 probably benign Het
Bahcc1 T C 11: 120,289,398 F2527L possibly damaging Het
Baz2b T A 2: 59,917,369 M1317L possibly damaging Het
Bcas3 A T 11: 85,457,894 K204I probably damaging Het
C1qtnf1 T C 11: 118,448,004 F167L probably damaging Het
Cfap58 C T 19: 47,975,502 T523M possibly damaging Het
Ddb1 T A 19: 10,622,466 C680S possibly damaging Het
Eef1d T C 15: 75,896,313 Q200R probably null Het
Gm10717 A T 9: 3,026,287 Y195F probably damaging Het
Gm28557 T A 13: 67,071,019 K214* probably null Het
Gm438 T A 4: 144,779,737 D128V probably damaging Het
Gm8229 A C 14: 44,366,625 E90D probably benign Het
Hhla1 T C 15: 65,930,614 probably benign Het
Hivep1 C T 13: 42,155,654 H457Y probably damaging Het
Htr2c T C X: 147,193,760 probably benign Het
Ifi44 A T 3: 151,732,497 S384R probably damaging Het
Impad1 T A 4: 4,767,763 R338* probably null Het
Kirrel2 T C 7: 30,448,340 T628A probably benign Het
Kmt2d T C 15: 98,851,793 probably benign Het
Larp4b T A 13: 9,170,680 I655N probably damaging Het
Lrrd1 G A 5: 3,858,803 V692I probably benign Het
Mum1 A T 10: 80,230,083 E57V probably damaging Het
Nes T C 3: 87,977,221 I929T probably benign Het
Ogfr T C 2: 180,592,515 probably benign Het
Rfx2 G T 17: 56,805,404 P43Q probably benign Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Slit1 A T 19: 41,602,304 C1310S probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Stk35 T C 2: 129,801,801 V235A probably damaging Het
Syde2 T G 3: 145,998,520 V142G probably benign Het
Tgfb3 A G 12: 86,077,839 F32L probably benign Het
Tmem35a T C X: 134,304,697 F121L probably damaging Het
Trp53bp2 T A 1: 182,453,724 D963E probably benign Het
Vmn1r26 A G 6: 58,008,875 S110P probably damaging Het
Vpreb2 T C 16: 17,980,694 probably benign Het
Xrn2 A T 2: 147,050,025 T721S probably benign Het
Other mutations in Sh3tc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00234:Sh3tc1 APN 5 35710957 missense probably damaging 1.00
IGL01019:Sh3tc1 APN 5 35703375 missense probably damaging 1.00
IGL01725:Sh3tc1 APN 5 35700316 missense probably benign 0.08
IGL02069:Sh3tc1 APN 5 35718995 missense probably benign 0.45
IGL02153:Sh3tc1 APN 5 35703352 missense probably damaging 1.00
IGL02269:Sh3tc1 APN 5 35706284 missense probably benign 0.21
IGL02984:Sh3tc1 UTSW 5 35714059 splice site probably null
R0280:Sh3tc1 UTSW 5 35706017 missense probably damaging 1.00
R0305:Sh3tc1 UTSW 5 35723999 missense probably benign
R0322:Sh3tc1 UTSW 5 35706561 missense possibly damaging 0.86
R0485:Sh3tc1 UTSW 5 35702012 splice site probably benign
R0511:Sh3tc1 UTSW 5 35703462 missense probably damaging 1.00
R0513:Sh3tc1 UTSW 5 35700307 missense possibly damaging 0.87
R0523:Sh3tc1 UTSW 5 35724066 small deletion probably benign
R0550:Sh3tc1 UTSW 5 35699784 missense probably damaging 0.99
R0676:Sh3tc1 UTSW 5 35719114 splice site probably benign
R1485:Sh3tc1 UTSW 5 35719026 missense probably benign 0.00
R1559:Sh3tc1 UTSW 5 35703349 critical splice donor site probably null
R1599:Sh3tc1 UTSW 5 35707512 missense probably benign 0.05
R1759:Sh3tc1 UTSW 5 35705904 missense possibly damaging 0.95
R1808:Sh3tc1 UTSW 5 35705924 missense probably benign 0.01
R1816:Sh3tc1 UTSW 5 35700584 critical splice donor site probably null
R2036:Sh3tc1 UTSW 5 35716164 missense probably benign 0.01
R2092:Sh3tc1 UTSW 5 35700658 missense probably damaging 1.00
R2944:Sh3tc1 UTSW 5 35714160 missense probably damaging 1.00
R4258:Sh3tc1 UTSW 5 35706978 missense probably benign 0.00
R4556:Sh3tc1 UTSW 5 35707082 missense probably damaging 1.00
R4647:Sh3tc1 UTSW 5 35706318 missense probably damaging 1.00
R5011:Sh3tc1 UTSW 5 35700289 missense probably damaging 1.00
R5740:Sh3tc1 UTSW 5 35707055 missense probably benign 0.00
R6023:Sh3tc1 UTSW 5 35706951 nonsense probably null
R6164:Sh3tc1 UTSW 5 35706246 missense probably benign 0.05
R6262:Sh3tc1 UTSW 5 35699773 missense probably damaging 1.00
R6433:Sh3tc1 UTSW 5 35706597 missense probably damaging 0.99
R6932:Sh3tc1 UTSW 5 35707434 missense probably benign 0.01
R6986:Sh3tc1 UTSW 5 35723944 missense probably benign
R7098:Sh3tc1 UTSW 5 35702014 splice site probably null
R7502:Sh3tc1 UTSW 5 35706062 missense probably damaging 0.96
R7737:Sh3tc1 UTSW 5 35723953 missense probably benign 0.15
R7792:Sh3tc1 UTSW 5 35710951 missense probably damaging 0.97
R8079:Sh3tc1 UTSW 5 35706857 missense possibly damaging 0.78
R8154:Sh3tc1 UTSW 5 35718352 missense probably damaging 1.00
R8267:Sh3tc1 UTSW 5 35706407 missense probably benign 0.01
R8300:Sh3tc1 UTSW 5 35697448 missense probably benign 0.00
R8416:Sh3tc1 UTSW 5 35710912 missense probably damaging 0.99
R8459:Sh3tc1 UTSW 5 35721589 missense probably benign
X0061:Sh3tc1 UTSW 5 35706809 missense probably damaging 1.00
Z1176:Sh3tc1 UTSW 5 35714229 missense possibly damaging 0.62
Posted On2015-04-16