Incidental Mutation 'IGL03256:1700030K09Rik'
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ID414664
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700030K09Rik
Ensembl Gene ENSMUSG00000052794
Gene NameRIKEN cDNA 1700030K09 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.027) question?
Stock #IGL03256
Quality Score
Status
Chromosome8
Chromosomal Location72443880-72461001 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 72445199 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 150 (T150I)
Ref Sequence ENSEMBL: ENSMUSP00000113279 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019876] [ENSMUST00000064853] [ENSMUST00000121902]
Predicted Effect probably benign
Transcript: ENSMUST00000019876
SMART Domains Protein: ENSMUSP00000019876
Gene: ENSMUSG00000019732

DomainStartEndE-ValueType
Pfam:Calreticulin 23 256 5.7e-40 PFAM
Pfam:Calreticulin 255 315 6.6e-7 PFAM
low complexity region 345 359 N/A INTRINSIC
low complexity region 365 376 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000064853
AA Change: T150I

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000063244
Gene: ENSMUSG00000052794
AA Change: T150I

DomainStartEndE-ValueType
low complexity region 200 216 N/A INTRINSIC
low complexity region 250 262 N/A INTRINSIC
low complexity region 320 333 N/A INTRINSIC
low complexity region 374 383 N/A INTRINSIC
low complexity region 421 432 N/A INTRINSIC
Pfam:DUF4614 438 608 2e-71 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121902
AA Change: T150I

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000113279
Gene: ENSMUSG00000052794
AA Change: T150I

DomainStartEndE-ValueType
low complexity region 200 216 N/A INTRINSIC
low complexity region 250 262 N/A INTRINSIC
low complexity region 320 333 N/A INTRINSIC
low complexity region 387 398 N/A INTRINSIC
Pfam:DUF4614 400 575 1.3e-75 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T C 3: 36,906,683 probably benign Het
Adam2 T C 14: 66,053,831 N333D probably benign Het
Aifm3 G A 16: 17,506,310 R578Q probably benign Het
Arid2 C A 15: 96,370,762 Q919K probably benign Het
Atp6v1a T C 16: 44,111,088 probably benign Het
Bicd1 A T 6: 149,513,585 T599S probably benign Het
Catsperg2 T A 7: 29,709,874 R601W probably damaging Het
Clca2 A C 3: 145,086,392 S369R possibly damaging Het
Cyfip1 T G 7: 55,907,434 V795G possibly damaging Het
Ddb1 A G 19: 10,621,861 T544A probably benign Het
Defb43 T C 14: 63,017,880 I54T probably damaging Het
Dera A G 6: 137,779,645 M89V probably benign Het
Fam227b T A 2: 125,989,003 K427I probably damaging Het
Frk A G 10: 34,607,842 I400V probably benign Het
Gk5 T A 9: 96,129,053 L72H probably damaging Het
Gprc6a T A 10: 51,628,349 Y133F possibly damaging Het
Hecw1 A G 13: 14,280,484 L662P probably damaging Het
Hecw1 G T 13: 14,280,485 L662M probably benign Het
Il12b T A 11: 44,407,930 S71T probably benign Het
Kdm2a A T 19: 4,345,510 probably benign Het
Lhfp A G 3: 53,043,553 R83G possibly damaging Het
Magel2 C A 7: 62,380,414 T1022K unknown Het
Mycbp2 C A 14: 103,188,589 V2367F possibly damaging Het
Nap1l3 C T X: 122,396,208 G271D probably benign Het
Nars2 T A 7: 97,039,910 D346E possibly damaging Het
Nek11 T A 9: 105,244,414 E435D probably damaging Het
Nfam1 C T 15: 83,010,410 G205R probably benign Het
Olfr1474 T A 19: 13,471,267 M99K probably damaging Het
Olfr395 A T 11: 73,906,696 N265K probably benign Het
Olfr433 T C 1: 174,042,208 L86P probably damaging Het
Otud3 G A 4: 138,909,617 R78W probably damaging Het
Oxct2a C T 4: 123,322,965 A208T probably damaging Het
Pcdh11x A T X: 120,400,910 E683D probably benign Het
Phtf2 C A 5: 20,803,252 V144L probably damaging Het
Pkn2 T C 3: 142,803,550 probably null Het
Puf60 T A 15: 76,070,596 D459V possibly damaging Het
Ralgapa2 A G 2: 146,460,712 probably null Het
Rapgef6 A C 11: 54,657,429 Q813P probably damaging Het
Rsf1 A T 7: 97,679,004 D1071V possibly damaging Het
Sctr T C 1: 120,031,559 probably benign Het
Serpini1 A G 3: 75,619,174 I244M probably benign Het
Tada2a C A 11: 84,087,192 probably benign Het
Tada3 A T 6: 113,375,131 H112Q possibly damaging Het
Tnxb T A 17: 34,688,720 L1246Q probably damaging Het
Txndc16 T C 14: 45,151,896 N449S probably damaging Het
Usp34 T A 11: 23,420,090 Y1771* probably null Het
Vav2 A T 2: 27,271,900 probably null Het
Virma T C 4: 11,542,207 probably benign Het
Vmn1r78 T A 7: 12,152,798 I112N probably damaging Het
Vnn3 A T 10: 23,851,800 probably benign Het
Other mutations in 1700030K09Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00832:1700030K09Rik APN 8 72455349 missense probably damaging 1.00
IGL01010:1700030K09Rik APN 8 72445215 missense probably damaging 0.98
IGL01449:1700030K09Rik APN 8 72444849 missense probably benign 0.10
IGL01714:1700030K09Rik APN 8 72455569 critical splice donor site probably null
IGL03275:1700030K09Rik APN 8 72445124 missense probably damaging 1.00
R0417:1700030K09Rik UTSW 8 72445400 missense probably damaging 0.97
R0501:1700030K09Rik UTSW 8 72455372 missense probably benign 0.01
R1444:1700030K09Rik UTSW 8 72451386 missense probably damaging 1.00
R1556:1700030K09Rik UTSW 8 72449633 missense probably damaging 1.00
R2153:1700030K09Rik UTSW 8 72455115 missense probably benign 0.01
R2154:1700030K09Rik UTSW 8 72455115 missense probably benign 0.01
R2298:1700030K09Rik UTSW 8 72455403 missense probably benign 0.08
R3743:1700030K09Rik UTSW 8 72445169 missense probably benign 0.41
R4787:1700030K09Rik UTSW 8 72445164 nonsense probably null
R4860:1700030K09Rik UTSW 8 72455423 missense possibly damaging 0.87
R4860:1700030K09Rik UTSW 8 72455423 missense possibly damaging 0.87
R4994:1700030K09Rik UTSW 8 72455118 missense probably benign 0.02
R5857:1700030K09Rik UTSW 8 72449525 missense probably benign 0.04
R6256:1700030K09Rik UTSW 8 72451428 missense probably damaging 1.00
Posted On2016-08-02