Incidental Mutation 'IGL01019:Sh3tc1'
ID 53587
Institutional Source Australian Phenomics Network (link to record)
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 # IGL01019
Quality Score
Status
Chromosome 5
Chromosomal Location 35854524-35897331 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35860719 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 1046 (L1046P)
Ref Sequence ENSEMBL: ENSMUSP00000144175 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070203] [ENSMUST00000129664] [ENSMUST00000201511]
AlphaFold G3X9F6
Predicted Effect probably damaging
Transcript: ENSMUST00000070203
AA Change: L1046P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000070610
Gene: ENSMUSG00000036553
AA Change: L1046P

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: L984P
SMART Domains Protein: ENSMUSP00000115376
Gene: ENSMUSG00000036553
AA Change: L984P

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 damaging
Transcript: ENSMUST00000201511
AA Change: L1046P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144175
Gene: ENSMUSG00000036553
AA Change: L1046P

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930022D16Rik T C 11: 109,308,737 (GRCm39) probably benign Het
Aatk T C 11: 119,903,101 (GRCm39) S375G probably benign Het
Abcg8 T C 17: 84,999,423 (GRCm39) M173T probably benign Het
B3galt2 A C 1: 143,522,495 (GRCm39) R210S probably benign Het
Bltp1 G T 3: 37,061,133 (GRCm39) probably null Het
Capn5 C T 7: 97,784,971 (GRCm39) A168T probably damaging Het
Cbx7 C T 15: 79,814,829 (GRCm39) G24D probably damaging Het
Ccdc7a A T 8: 129,788,099 (GRCm39) S77T probably benign Het
Cd200r2 T A 16: 44,729,832 (GRCm39) probably benign Het
Cdh11 T C 8: 103,406,377 (GRCm39) H32R probably benign Het
Chdh A T 14: 29,753,289 (GRCm39) N66I probably benign Het
Clca3a2 G A 3: 144,519,388 (GRCm39) Q263* probably null Het
Dcc T C 18: 71,942,161 (GRCm39) I319V probably benign Het
Depdc5 G T 5: 33,050,745 (GRCm39) M170I probably damaging Het
Dop1b T A 16: 93,607,117 (GRCm39) L2140Q probably benign Het
Frem3 G A 8: 81,341,763 (GRCm39) G1352E probably benign Het
Fsd1l T A 4: 53,694,742 (GRCm39) C389S probably damaging Het
Grin2c C T 11: 115,148,936 (GRCm39) A221T possibly damaging Het
Gstz1 C A 12: 87,210,575 (GRCm39) P153T probably damaging Het
Itgb2 T C 10: 77,378,237 (GRCm39) S22P possibly damaging Het
Krt87 G T 15: 101,336,312 (GRCm39) Q114K possibly damaging Het
Krtap5-4 A C 7: 141,857,647 (GRCm39) S106R unknown Het
Lats1 T C 10: 7,581,435 (GRCm39) V740A probably damaging Het
Mcm9 C A 10: 53,506,041 (GRCm39) G78C probably damaging Het
Mn1 G A 5: 111,569,413 (GRCm39) E1128K possibly damaging Het
Myo1f G A 17: 33,811,977 (GRCm39) R592H possibly damaging Het
Nfat5 G T 8: 108,094,146 (GRCm39) A277S probably damaging Het
Nfkbia T A 12: 55,537,327 (GRCm39) Y254F probably damaging Het
Nr3c2 A T 8: 77,635,843 (GRCm39) N315Y probably damaging Het
Otof T C 5: 30,562,560 (GRCm39) M258V probably benign Het
Panx3 C T 9: 37,572,767 (GRCm39) C261Y probably damaging Het
Pdia2 C A 17: 26,417,896 (GRCm39) G38W probably damaging Het
Psg19 G T 7: 18,527,971 (GRCm39) Y257* probably null Het
Ptpre A T 7: 135,280,054 (GRCm39) K586* probably null Het
Reps1 A G 10: 18,000,643 (GRCm39) R752G probably damaging Het
Rpgrip1 T A 14: 52,368,633 (GRCm39) D277E possibly damaging Het
Rpl21-ps6 A G 17: 56,222,671 (GRCm39) noncoding transcript Het
Serpinf2 T A 11: 75,327,333 (GRCm39) E198V possibly damaging Het
Snw1 T C 12: 87,497,711 (GRCm39) E426G probably benign Het
Sord T A 2: 122,094,564 (GRCm39) N317K probably benign Het
Taar3 A T 10: 23,826,330 (GRCm39) D292V probably damaging Het
Tdrd3 C A 14: 87,709,618 (GRCm39) T94K probably damaging Het
Ttn C A 2: 76,687,165 (GRCm39) E736* probably null Het
Usp32 A G 11: 84,930,091 (GRCm39) V562A probably damaging Het
Vmn1r169 T G 7: 23,276,611 (GRCm39) M1R probably null Het
Vmn2r3 C T 3: 64,167,304 (GRCm39) C609Y probably damaging Het
Vmn2r69 T C 7: 85,055,739 (GRCm39) T800A probably benign Het
Vmn2r72 G A 7: 85,387,542 (GRCm39) T674I probably benign Het
Zfp160 T A 17: 21,241,088 (GRCm39) M52K possibly damaging Het
Zfp607a T A 7: 27,578,042 (GRCm39) C371S probably damaging Het
Other mutations in Sh3tc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00234:Sh3tc1 APN 5 35,868,301 (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
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
Posted On 2013-06-28