Incidental Mutation 'IGL00945:Shtn1'
ID29520
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Shtn1
Ensembl Gene ENSMUSG00000041362
Gene Nameshootin 1
Synonyms4930506M07Rik, shootin1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00945
Quality Score
Status
Chromosome19
Chromosomal Location58973358-59076069 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 59018952 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 289 (E289K)
Ref Sequence ENSEMBL: ENSMUSP00000126227 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047511] [ENSMUST00000163821]
Predicted Effect possibly damaging
Transcript: ENSMUST00000047511
AA Change: E289K

PolyPhen 2 Score 0.563 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000041378
Gene: ENSMUSG00000041362
AA Change: E289K

DomainStartEndE-ValueType
coiled coil region 7 59 N/A INTRINSIC
low complexity region 120 132 N/A INTRINSIC
coiled coil region 137 233 N/A INTRINSIC
coiled coil region 259 353 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000163821
AA Change: E289K

PolyPhen 2 Score 0.563 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000126227
Gene: ENSMUSG00000041362
AA Change: E289K

DomainStartEndE-ValueType
internal_repeat_1 59 77 1.42e-6 PROSPERO
low complexity region 120 132 N/A INTRINSIC
internal_repeat_1 207 225 1.42e-6 PROSPERO
coiled coil region 259 353 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 A G 5: 35,837,020 I101V probably damaging Het
Aldh5a1 A G 13: 24,926,158 probably benign Het
Arhgef28 A C 13: 97,967,399 L728R possibly damaging Het
Dct G A 14: 118,040,504 T218M probably damaging Het
Hcn2 C T 10: 79,733,803 R546* probably null Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Lap3 A G 5: 45,504,773 probably null Het
Mettl16 C T 11: 74,817,366 H464Y probably benign Het
Myh13 G A 11: 67,348,006 R725Q probably null Het
Nf1 T C 11: 79,469,803 F1436L probably damaging Het
Nod1 C T 6: 54,944,586 probably null Het
Olfr811 A T 10: 129,801,907 V206E possibly damaging Het
Pde5a T A 3: 122,835,642 probably null Het
Pja2 T C 17: 64,309,396 Y168C probably benign Het
Plod2 A G 9: 92,584,496 I170V probably benign Het
Pop5 A G 5: 115,240,559 probably benign Het
Sdk1 G T 5: 142,084,613 probably null Het
Sema3f G A 9: 107,685,522 S420L probably benign Het
Smarca1 A T X: 47,858,301 Y526* probably null Het
Sptan1 T C 2: 30,000,071 probably benign Het
St7l C A 3: 104,926,482 H486Q probably damaging Het
Tcte1 C A 17: 45,541,189 F449L probably benign Het
Tmem131 A G 1: 36,827,005 probably benign Het
Trim46 A G 3: 89,244,418 probably benign Het
Wwp1 A T 4: 19,640,193 probably null Het
Zc3h13 A G 14: 75,330,147 D960G probably damaging Het
Other mutations in Shtn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01619:Shtn1 APN 19 59028169 missense probably damaging 0.99
IGL01880:Shtn1 APN 19 59075449 splice site probably benign
IGL02214:Shtn1 APN 19 58999886 splice site probably benign
IGL03400:Shtn1 APN 19 59032258 splice site probably benign
R0011:Shtn1 UTSW 19 59032218 missense possibly damaging 0.72
R0011:Shtn1 UTSW 19 59032218 missense possibly damaging 0.72
R0299:Shtn1 UTSW 19 59018951 missense probably benign 0.00
R0606:Shtn1 UTSW 19 58999940 missense probably damaging 0.99
R1081:Shtn1 UTSW 19 58975015 missense probably benign 0.04
R1212:Shtn1 UTSW 19 59050890 missense probably damaging 1.00
R1677:Shtn1 UTSW 19 59009790 missense probably damaging 1.00
R1791:Shtn1 UTSW 19 59032200 missense probably damaging 0.99
R1966:Shtn1 UTSW 19 58975038 missense probably benign
R3076:Shtn1 UTSW 19 58995086 missense probably damaging 1.00
R3552:Shtn1 UTSW 19 58975038 missense probably benign 0.28
R3736:Shtn1 UTSW 19 59022268 missense probably benign
R4615:Shtn1 UTSW 19 59022216 missense probably benign 0.18
R4789:Shtn1 UTSW 19 59050873 missense probably damaging 0.99
R4791:Shtn1 UTSW 19 59050873 missense probably damaging 0.99
R4792:Shtn1 UTSW 19 59050873 missense probably damaging 0.99
R4939:Shtn1 UTSW 19 59022201 missense probably benign 0.00
R5245:Shtn1 UTSW 19 59032220 missense possibly damaging 0.90
R5387:Shtn1 UTSW 19 59038369 missense probably damaging 1.00
R5813:Shtn1 UTSW 19 59032241 missense probably damaging 1.00
R6013:Shtn1 UTSW 19 58975101 missense probably damaging 1.00
R6374:Shtn1 UTSW 19 59038296 missense possibly damaging 0.94
R7030:Shtn1 UTSW 19 59009834 missense possibly damaging 0.74
R7143:Shtn1 UTSW 19 59018906 missense probably damaging 0.99
R7487:Shtn1 UTSW 19 59003860 missense probably damaging 0.99
R7496:Shtn1 UTSW 19 59028184 missense probably damaging 1.00
R7889:Shtn1 UTSW 19 59003896 missense probably damaging 0.99
R7972:Shtn1 UTSW 19 59003896 missense probably damaging 0.99
R8209:Shtn1 UTSW 19 59003896 missense possibly damaging 0.86
R8226:Shtn1 UTSW 19 59003896 missense possibly damaging 0.86
R8290:Shtn1 UTSW 19 58999894 missense probably damaging 1.00
Posted On2013-04-17