Incidental Mutation 'R8752:1700012B07Rik'
ID 663928
Institutional Source Beutler Lab
Gene Symbol 1700012B07Rik
Ensembl Gene ENSMUSG00000020617
Gene Name RIKEN cDNA 1700012B07 gene
Synonyms
MMRRC Submission 068595-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R8752 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 109679093-109718905 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 109704396 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 82 (K82R)
Ref Sequence ENSEMBL: ENSMUSP00000102285 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020941] [ENSMUST00000106674] [ENSMUST00000143578]
AlphaFold Q3V0S8
Predicted Effect probably damaging
Transcript: ENSMUST00000020941
AA Change: K82R

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000020941
Gene: ENSMUSG00000020617
AA Change: K82R

DomainStartEndE-ValueType
low complexity region 41 46 N/A INTRINSIC
low complexity region 61 71 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106674
AA Change: K82R

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102285
Gene: ENSMUSG00000020617
AA Change: K82R

DomainStartEndE-ValueType
low complexity region 41 46 N/A INTRINSIC
low complexity region 61 71 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000143578
AA Change: K74R

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000115395
Gene: ENSMUSG00000020617
AA Change: K74R

DomainStartEndE-ValueType
low complexity region 33 38 N/A INTRINSIC
low complexity region 53 63 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (55/55)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad8 A T 9: 26,896,853 (GRCm39) M202K probably damaging Het
Adam29 A T 8: 56,325,328 (GRCm39) C375* probably null Het
Adat2 A T 10: 13,432,604 (GRCm39) E35D probably benign Het
Afm A C 5: 90,700,424 (GRCm39) E600D probably benign Het
Ahnak T A 19: 8,992,901 (GRCm39) D4728E probably damaging Het
Ak7 AAGGAG AAG 12: 105,713,476 (GRCm39) probably benign Het
Ankrd28 C A 14: 31,477,699 (GRCm39) probably benign Het
Ankrd31 A T 13: 96,916,879 (GRCm39) H131L probably damaging Het
Ano5 T C 7: 51,196,617 (GRCm39) F183L probably damaging Het
Asah1 G A 8: 41,813,314 (GRCm39) S33L possibly damaging Het
Catsperg2 T C 7: 29,404,744 (GRCm39) D773G possibly damaging Het
Ccdc47 A G 11: 106,095,818 (GRCm39) Y293H probably damaging Het
Cd302 A G 2: 60,102,529 (GRCm39) F30S probably damaging Het
Ces1c C G 8: 93,846,964 (GRCm39) A243P probably damaging Het
Deptor A T 15: 55,044,280 (GRCm39) T149S probably benign Het
Dnah14 G A 1: 181,455,581 (GRCm39) R902H probably benign Het
Dnah5 A G 15: 28,290,365 (GRCm39) I1252V probably benign Het
Dnah7c A G 1: 46,711,701 (GRCm39) I2643V probably benign Het
Dnajc4 C T 19: 6,966,801 (GRCm39) V177I probably benign Het
Efhc1 A T 1: 21,059,692 (GRCm39) N581Y probably benign Het
Espl1 A G 15: 102,214,759 (GRCm39) T767A probably damaging Het
Etv6 A G 6: 134,243,391 (GRCm39) E382G probably benign Het
Foxd4 A T 19: 24,878,094 (GRCm39) D35E probably damaging Het
Gata2 T C 6: 88,177,513 (GRCm39) V181A possibly damaging Het
Gm5114 A T 7: 39,057,927 (GRCm39) M564K probably damaging Het
Gpr45 A T 1: 43,071,842 (GRCm39) I162F possibly damaging Het
Hic1 A G 11: 75,060,206 (GRCm39) F47S probably benign Het
Hsf1 C A 15: 76,384,344 (GRCm39) S417* probably null Het
Id4 A T 13: 48,415,065 (GRCm39) H31L possibly damaging Het
Il12rb2 T C 6: 67,328,265 (GRCm39) S322G probably damaging Het
Lcn11 T C 2: 25,668,138 (GRCm39) Y99H probably damaging Het
Mipol1 G A 12: 57,372,367 (GRCm39) R142Q probably damaging Het
Mpp2 A G 11: 101,976,129 (GRCm39) S10P probably benign Het
Muc15 A T 2: 110,561,758 (GRCm39) N65Y possibly damaging Het
Nav3 T C 10: 109,596,165 (GRCm39) probably benign Het
Ndst3 C T 3: 123,342,684 (GRCm39) R709Q probably damaging Het
Nek11 G T 9: 105,225,207 (GRCm39) Q102K probably benign Het
Nhsl1 A G 10: 18,407,113 (GRCm39) N1416D probably benign Het
Or13p3 A C 4: 118,567,083 (GRCm39) T160P probably damaging Het
Or2v1 T A 11: 49,025,505 (GRCm39) V162E possibly damaging Het
Or4c111 T C 2: 88,844,231 (GRCm39) Y59C probably damaging Het
Or5p72 T C 7: 108,022,480 (GRCm39) I234T probably benign Het
Or5w20 T C 2: 87,726,591 (GRCm39) I16T possibly damaging Het
Parp4 G T 14: 56,886,073 (GRCm39) E1717D unknown Het
Pla2g4d A T 2: 120,099,248 (GRCm39) probably null Het
Pramel52-ps A T 5: 94,529,354 (GRCm39) R41S possibly damaging Het
Psmc2 A G 5: 22,001,533 (GRCm39) I107V probably benign Het
Rhod G T 19: 4,476,121 (GRCm39) T210N probably damaging Het
Setx A T 2: 29,048,992 (GRCm39) D2006V probably damaging Het
Sfpq T A 4: 126,919,969 (GRCm39) M541K possibly damaging Het
Sorbs1 C T 19: 40,349,872 (GRCm39) probably null Het
Sv2b C A 7: 74,855,842 (GRCm39) M149I possibly damaging Het
Svil T A 18: 5,060,366 (GRCm39) probably benign Het
Vmn1r216 G T 13: 23,283,880 (GRCm39) V188F probably damaging Het
Vmn2r27 A G 6: 124,201,018 (GRCm39) F313S probably benign Het
Vmn2r44 A G 7: 8,370,805 (GRCm39) F747S probably damaging Het
Vmn2r95 T C 17: 18,661,738 (GRCm39) S495P probably damaging Het
Xpo5 C T 17: 46,547,838 (GRCm39) probably benign Het
Zscan20 A C 4: 128,479,480 (GRCm39) C1004G probably damaging Het
Other mutations in 1700012B07Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01916:1700012B07Rik APN 11 109,684,937 (GRCm39) missense probably damaging 0.99
IGL03006:1700012B07Rik APN 11 109,718,671 (GRCm39) missense probably damaging 0.98
R0626:1700012B07Rik UTSW 11 109,679,547 (GRCm39) unclassified probably benign
R1566:1700012B07Rik UTSW 11 109,679,632 (GRCm39) missense probably benign 0.01
R1654:1700012B07Rik UTSW 11 109,688,225 (GRCm39) missense probably benign 0.36
R2373:1700012B07Rik UTSW 11 109,684,980 (GRCm39) nonsense probably null
R2405:1700012B07Rik UTSW 11 109,684,980 (GRCm39) nonsense probably null
R2410:1700012B07Rik UTSW 11 109,684,980 (GRCm39) nonsense probably null
R2411:1700012B07Rik UTSW 11 109,684,980 (GRCm39) nonsense probably null
R3707:1700012B07Rik UTSW 11 109,684,980 (GRCm39) nonsense probably null
R3708:1700012B07Rik UTSW 11 109,684,980 (GRCm39) nonsense probably null
R3732:1700012B07Rik UTSW 11 109,684,980 (GRCm39) nonsense probably null
R3745:1700012B07Rik UTSW 11 109,684,980 (GRCm39) nonsense probably null
R3783:1700012B07Rik UTSW 11 109,684,980 (GRCm39) nonsense probably null
R3784:1700012B07Rik UTSW 11 109,684,980 (GRCm39) nonsense probably null
R3785:1700012B07Rik UTSW 11 109,684,980 (GRCm39) nonsense probably null
R3805:1700012B07Rik UTSW 11 109,684,980 (GRCm39) nonsense probably null
R3806:1700012B07Rik UTSW 11 109,684,980 (GRCm39) nonsense probably null
R3922:1700012B07Rik UTSW 11 109,684,980 (GRCm39) nonsense probably null
R3926:1700012B07Rik UTSW 11 109,684,980 (GRCm39) nonsense probably null
R4085:1700012B07Rik UTSW 11 109,684,980 (GRCm39) nonsense probably null
R4089:1700012B07Rik UTSW 11 109,684,980 (GRCm39) nonsense probably null
R4110:1700012B07Rik UTSW 11 109,684,980 (GRCm39) nonsense probably null
R4111:1700012B07Rik UTSW 11 109,684,980 (GRCm39) nonsense probably null
R4112:1700012B07Rik UTSW 11 109,684,980 (GRCm39) nonsense probably null
R4171:1700012B07Rik UTSW 11 109,684,980 (GRCm39) nonsense probably null
R4506:1700012B07Rik UTSW 11 109,685,087 (GRCm39) missense probably damaging 1.00
R4825:1700012B07Rik UTSW 11 109,682,498 (GRCm39) missense probably benign 0.00
R5032:1700012B07Rik UTSW 11 109,684,980 (GRCm39) nonsense probably null
R5033:1700012B07Rik UTSW 11 109,684,980 (GRCm39) nonsense probably null
R5971:1700012B07Rik UTSW 11 109,684,980 (GRCm39) nonsense probably null
R6078:1700012B07Rik UTSW 11 109,684,980 (GRCm39) nonsense probably null
R6079:1700012B07Rik UTSW 11 109,684,980 (GRCm39) nonsense probably null
R6138:1700012B07Rik UTSW 11 109,684,980 (GRCm39) nonsense probably null
R6354:1700012B07Rik UTSW 11 109,685,042 (GRCm39) missense probably benign 0.33
R9288:1700012B07Rik UTSW 11 109,704,444 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- TCATCATGGATGGTAGTGGCTC -3'
(R):5'- CATTCAGGGTTTCTCATGAGAGG -3'

Sequencing Primer
(F):5'- TCTACAGAGTGAGTTCCAGGAC -3'
(R):5'- TTTCTCATGAGAGGAAAAGTGAGAAC -3'
Posted On 2021-03-08