Incidental Mutation 'IGL01449:1700030K09Rik'
ID84567
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: 0.065) question?
Stock #IGL01449
Quality Score
Status
Chromosome8
Chromosomal Location72443880-72461001 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 72444849 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Phenylalanine at position 33 (L33F)
Ref Sequence ENSEMBL: ENSMUSP00000063244 (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: L33F

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000063244
Gene: ENSMUSG00000052794
AA Change: L33F

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: L33F

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000113279
Gene: ENSMUSG00000052794
AA Change: L33F

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 T C 14: 29,990,970 probably null Het
Aldh16a1 C A 7: 45,141,967 A105S probably damaging Het
Angpt2 T C 8: 18,710,625 T154A probably benign Het
BC051665 A G 13: 60,782,704 V278A probably damaging Het
Cap1 T C 4: 122,860,187 T458A probably damaging Het
Clcn3 A T 8: 60,934,598 S179T probably damaging Het
Cyp2a22 T C 7: 26,933,553 D408G probably benign Het
D430042O09Rik T A 7: 125,870,685 V1442D probably damaging Het
Fam217b T A 2: 178,421,150 S302R probably damaging Het
Fcho2 A T 13: 98,789,807 D89E probably benign Het
Fnip1 C T 11: 54,499,508 R434C probably damaging Het
Gga3 G A 11: 115,589,102 T261M probably damaging Het
Gm21985 T C 2: 112,339,396 F292L probably damaging Het
Gm43638 A T 5: 87,486,215 S178T possibly damaging Het
Igkv10-95 G A 6: 68,680,764 G68E probably damaging Het
Lpcat2 G A 8: 92,871,147 R180Q possibly damaging Het
Muc6 C T 7: 141,638,614 A1984T possibly damaging Het
Npy4r T A 14: 34,146,365 Y322F probably damaging Het
Nwd2 T A 5: 63,805,594 H840Q probably damaging Het
Olfr844 G A 9: 19,319,233 G233D probably damaging Het
Osbpl2 G T 2: 180,145,194 probably benign Het
Pclo T A 5: 14,678,516 probably benign Het
Pold4 T C 19: 4,232,867 probably benign Het
Ppp1r16a A G 15: 76,694,294 probably benign Het
Pprc1 C T 19: 46,065,232 probably benign Het
Prkcg A G 7: 3,319,619 D343G probably benign Het
Scaf11 A C 15: 96,419,126 S852R probably benign Het
Slc31a2 C T 4: 62,292,696 T22I probably damaging Het
Sox30 T A 11: 45,981,342 D341E probably damaging Het
Tle4 A G 19: 14,465,340 S339P probably benign Het
Tsg101 A T 7: 46,908,925 Y78N probably damaging Het
Ttc1 T A 11: 43,738,803 S179C probably damaging Het
Txnrd3 T A 6: 89,654,147 S142T probably benign Het
Ubr4 C A 4: 139,412,736 A1210E probably damaging Het
Uroc1 C A 6: 90,338,653 P172Q probably damaging Het
Usp12 T C 5: 146,754,440 D168G probably benign Het
Vmn1r32 T A 6: 66,552,932 M287L probably benign Het
Vwa8 C T 14: 79,182,988 Q1710* probably null Het
Wdfy4 T A 14: 33,104,037 Q1219L probably damaging Het
Zbtb17 A G 4: 141,463,305 T145A probably benign Het
Zfp697 T C 3: 98,427,530 C204R probably damaging 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
IGL01714:1700030K09Rik APN 8 72455569 critical splice donor site probably null
IGL03256:1700030K09Rik APN 8 72445199 missense probably benign 0.01
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
R7129:1700030K09Rik UTSW 8 72455355 missense probably damaging 1.00
R7366:1700030K09Rik UTSW 8 72449459 missense possibly damaging 0.65
Posted On2013-11-11