Incidental Mutation 'R6256:1700030K09Rik'
ID506119
Institutional Source Beutler Lab
Gene Symbol 1700030K09Rik
Ensembl Gene ENSMUSG00000052794
Gene NameRIKEN cDNA 1700030K09 gene
Synonyms
MMRRC Submission 044373-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.052) question?
Stock #R6256 (G1)
Quality Score225.009
Status Validated
Chromosome8
Chromosomal Location72443880-72461001 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 72451428 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Leucine at position 361 (Q361L)
Ref Sequence ENSEMBL: ENSMUSP00000063244 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064853] [ENSMUST00000121902]
Predicted Effect probably damaging
Transcript: ENSMUST00000064853
AA Change: Q361L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000063244
Gene: ENSMUSG00000052794
AA Change: Q361L

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 possibly damaging
Transcript: ENSMUST00000121902
AA Change: Q361L

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113279
Gene: ENSMUSG00000052794
AA Change: Q361L

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.5%
Validation Efficiency 99% (74/75)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 A G 10: 80,002,622 T577A probably damaging Het
Acad12 A T 5: 121,614,086 V54E probably benign Het
Ago4 A G 4: 126,520,226 Y91H probably damaging Het
Akr1b10 T C 6: 34,387,688 V28A probably damaging Het
Ccdc33 T A 9: 58,101,918 probably null Het
Ccdc7a T C 8: 128,935,593 probably null Het
Ces1f A T 8: 93,265,794 V343E probably damaging Het
Cftr T C 6: 18,274,661 L896P probably damaging Het
Csmd3 G A 15: 47,669,729 P2375S probably damaging Het
Dnajb14 G C 3: 137,908,362 A345P probably damaging Het
Dnajb14 C T 3: 137,908,363 A345V probably damaging Het
Dnase1 G A 16: 4,037,621 R24K probably benign Het
Dnmbp C T 19: 43,852,281 V560M probably damaging Het
Dopey2 T A 16: 93,807,214 I1981N possibly damaging Het
Eif3a A C 19: 60,771,026 S770A possibly damaging Het
Fbxl7 A T 15: 26,553,002 C60S probably benign Het
Fras1 A T 5: 96,733,843 D2478V possibly damaging Het
Hrnr A G 3: 93,322,611 D52G probably damaging Het
Jmjd1c T A 10: 67,220,408 L823M probably damaging Het
Kdm1a G T 4: 136,568,600 C172* probably null Het
Kdm6b C T 11: 69,406,729 E295K probably damaging Het
Mepe A T 5: 104,337,074 M27L probably benign Het
Mogat2 A T 7: 99,219,895 H305Q probably damaging Het
Mst1r T A 9: 107,917,266 Y1215N probably damaging Het
Muc5ac A T 7: 141,789,795 H48L possibly damaging Het
Myo7b T C 18: 31,983,695 D953G probably damaging Het
Ocel1 T C 8: 71,371,828 probably benign Het
Pcdhb6 A G 18: 37,335,925 D633G probably damaging Het
Ppm1l A G 3: 69,497,897 I176V probably benign Het
Sall3 C T 18: 80,969,861 R1120H possibly damaging Het
Sbf1 G A 15: 89,300,867 P1018S probably benign Het
Setbp1 T C 18: 78,857,257 Y1065C probably damaging Het
Slc25a2 T C 18: 37,637,723 probably null Het
Slc4a2 C A 5: 24,435,890 T729K probably damaging Het
Sptlc2 T C 12: 87,355,531 E207G probably damaging Het
Sult6b1 A T 17: 78,906,914 F27I probably benign Het
Syf2 A T 4: 134,934,578 K84N probably damaging Het
Tmem209 A T 6: 30,497,167 N183K probably benign Het
Tmem232 G T 17: 65,478,402 Q188K possibly damaging Het
Tomm70a A T 16: 57,152,692 T598S probably benign Het
Ttll13 A G 7: 80,258,304 T556A probably benign Het
Vmn2r120 A T 17: 57,524,700 L363* probably null Het
Xpo6 G T 7: 126,108,619 Q872K probably damaging Het
Xrra1 A C 7: 99,914,464 S553R probably damaging Het
Zfy1 A T Y: 738,765 V147E unknown Homo
Zfy2 T C Y: 2,116,267 I258V probably benign Homo
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
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
R7129:1700030K09Rik UTSW 8 72455355 missense probably damaging 1.00
R7366:1700030K09Rik UTSW 8 72449459 missense possibly damaging 0.65
R7923:1700030K09Rik UTSW 8 72444911 missense probably damaging 1.00
R8322:1700030K09Rik UTSW 8 72445375 missense probably benign 0.32
Predicted Primers PCR Primer
(F):5'- ATGTGAAGGGAGCCCATGTC -3'
(R):5'- CCCACAGACACAATGAGTACATGTG -3'

Sequencing Primer
(F):5'- CCCCCTTAATCATGGGATGTTAAGG -3'
(R):5'- CACAATGAGTACATGTGTGCGG -3'
Posted On2018-02-28