Incidental Mutation 'R5765:1700086D15Rik'
ID 446235
Institutional Source Beutler Lab
Gene Symbol 1700086D15Rik
Ensembl Gene ENSMUSG00000020548
Gene Name RIKEN cDNA 1700086D15 gene
Synonyms
MMRRC Submission 043366-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R5765 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 65042736-65050717 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to T at 65044066 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000090681 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020855] [ENSMUST00000047463] [ENSMUST00000093001] [ENSMUST00000093002] [ENSMUST00000108696]
AlphaFold Q9D9E9
Predicted Effect unknown
Transcript: ENSMUST00000020855
AA Change: F43I
SMART Domains Protein: ENSMUSP00000020855
Gene: ENSMUSG00000020548
AA Change: F43I

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 106 115 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000047463
SMART Domains Protein: ENSMUSP00000039139
Gene: ENSMUSG00000033389

DomainStartEndE-ValueType
BAR 1 242 2.27e-71 SMART
RhoGAP 266 442 1.07e-66 SMART
low complexity region 530 556 N/A INTRINSIC
low complexity region 561 575 N/A INTRINSIC
low complexity region 592 606 N/A INTRINSIC
low complexity region 616 631 N/A INTRINSIC
low complexity region 664 689 N/A INTRINSIC
low complexity region 695 707 N/A INTRINSIC
low complexity region 716 746 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000093001
SMART Domains Protein: ENSMUSP00000090680
Gene: ENSMUSG00000033389

DomainStartEndE-ValueType
BAR 5 210 8.8e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000093002
SMART Domains Protein: ENSMUSP00000090681
Gene: ENSMUSG00000033389

DomainStartEndE-ValueType
BAR 1 242 2.27e-71 SMART
RhoGAP 266 442 1.07e-66 SMART
low complexity region 536 562 N/A INTRINSIC
low complexity region 567 581 N/A INTRINSIC
low complexity region 598 612 N/A INTRINSIC
low complexity region 622 637 N/A INTRINSIC
low complexity region 670 695 N/A INTRINSIC
low complexity region 701 713 N/A INTRINSIC
low complexity region 722 752 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000108696
AA Change: F43I
SMART Domains Protein: ENSMUSP00000104336
Gene: ENSMUSG00000020548
AA Change: F43I

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 106 115 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 94% (51/54)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf2 T C 5: 24,778,421 (GRCm39) R246G probably damaging Het
Adamts19 G T 18: 59,185,654 (GRCm39) C1176F probably damaging Het
Adh7 G A 3: 137,932,090 (GRCm39) V235I probably benign Het
Aoc1l1 C T 6: 48,955,471 (GRCm39) P694S probably damaging Het
Caprin2 G C 6: 148,744,666 (GRCm39) P701A probably damaging Het
Casp7 T C 19: 56,422,315 (GRCm39) V110A possibly damaging Het
Cd1d2 A T 3: 86,894,549 (GRCm39) M106L probably benign Het
Cntnap2 C T 6: 46,506,749 (GRCm39) probably benign Het
Cpm A G 10: 117,507,638 (GRCm39) I252V probably benign Het
Dnaaf2 A C 12: 69,239,627 (GRCm39) I631M probably damaging Het
Fads2b T G 2: 85,314,538 (GRCm39) probably null Het
Fam117b A G 1: 60,009,631 (GRCm39) probably null Het
Fbxw22 T C 9: 109,214,064 (GRCm39) M251V probably benign Het
Fignl1 T C 11: 11,752,011 (GRCm39) probably null Het
Foxp1 G A 6: 98,992,423 (GRCm39) L156F probably damaging Het
Gdap1 A T 1: 17,231,650 (GRCm39) M332L probably benign Het
H2-M3 T C 17: 37,583,334 (GRCm39) F265S probably damaging Het
Il1rl1 C T 1: 40,501,103 (GRCm39) A493V probably benign Het
Iqce A G 5: 140,651,895 (GRCm39) S359P probably damaging Het
Kif2b C T 11: 91,468,068 (GRCm39) E72K probably benign Het
Luzp1 T C 4: 136,268,340 (GRCm39) S188P probably damaging Het
Med13l T A 5: 118,866,707 (GRCm39) L587Q probably damaging Het
Mocs2 A G 13: 114,962,692 (GRCm39) probably null Het
Mtnr1b T C 9: 15,774,459 (GRCm39) Y200C probably damaging Het
Nalcn C T 14: 123,702,138 (GRCm39) V458I possibly damaging Het
Nbea C T 3: 55,912,719 (GRCm39) V1023I probably benign Het
Nbeal1 T A 1: 60,331,006 (GRCm39) V2205D probably damaging Het
Nfe2l3 A G 6: 51,434,226 (GRCm39) D262G probably damaging Het
Nsfl1c T C 2: 151,346,085 (GRCm39) Y169H probably damaging Het
Pcdhac1 A T 18: 37,223,372 (GRCm39) R62* probably null Het
Pcdhga1 A G 18: 37,796,714 (GRCm39) T573A probably benign Het
Plin4 C T 17: 56,409,470 (GRCm39) C1276Y possibly damaging Het
Ppp6r1 C A 7: 4,645,207 (GRCm39) R220L possibly damaging Het
Ptprz1 T G 6: 23,000,235 (GRCm39) V775G probably damaging Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Slc17a6 A G 7: 51,275,249 (GRCm39) T103A possibly damaging Het
Spock1 A T 13: 57,577,217 (GRCm39) L404Q probably benign Het
Stradb C A 1: 59,031,903 (GRCm39) H272N probably benign Het
Strn3 A G 12: 51,680,410 (GRCm39) S397P probably benign Het
Synpo2l C T 14: 20,716,198 (GRCm39) R126H possibly damaging Het
Tas2r104 A G 6: 131,662,236 (GRCm39) Y158H probably benign Het
Tiparp T A 3: 65,438,771 (GRCm39) I29N possibly damaging Het
Tnpo1 G A 13: 98,996,349 (GRCm39) T484M probably benign Het
Tsc22d4 A G 5: 137,756,805 (GRCm39) I78V probably benign Het
Ugt2b1 T C 5: 87,067,265 (GRCm39) Y386C probably benign Het
Ugt2b38 A G 5: 87,571,954 (GRCm39) V26A probably damaging Het
Vmn2r116 G A 17: 23,620,378 (GRCm39) C704Y probably damaging Het
Vmn2r97 T A 17: 19,167,442 (GRCm39) Y565* probably null Het
Zfand2b T A 1: 75,147,171 (GRCm39) probably null Het
Zzef1 C T 11: 72,712,763 (GRCm39) Q228* probably null Het
Other mutations in 1700086D15Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03410:1700086D15Rik APN 11 65,043,393 (GRCm39) intron probably benign
R4824:1700086D15Rik UTSW 11 65,043,441 (GRCm39) intron probably benign
R5381:1700086D15Rik UTSW 11 65,044,137 (GRCm39) nonsense probably null
R6919:1700086D15Rik UTSW 11 65,043,356 (GRCm39) intron probably benign
R7200:1700086D15Rik UTSW 11 65,043,836 (GRCm39) missense unknown
R7526:1700086D15Rik UTSW 11 65,043,807 (GRCm39) missense unknown
Z1186:1700086D15Rik UTSW 11 65,044,080 (GRCm39) missense unknown
Z1186:1700086D15Rik UTSW 11 65,044,114 (GRCm39) missense unknown
Z1186:1700086D15Rik UTSW 11 65,044,128 (GRCm39) missense unknown
Z1186:1700086D15Rik UTSW 11 65,043,809 (GRCm39) missense unknown
Z1186:1700086D15Rik UTSW 11 65,043,794 (GRCm39) missense unknown
Z1187:1700086D15Rik UTSW 11 65,044,114 (GRCm39) missense unknown
Z1187:1700086D15Rik UTSW 11 65,044,128 (GRCm39) missense unknown
Z1187:1700086D15Rik UTSW 11 65,043,794 (GRCm39) missense unknown
Z1187:1700086D15Rik UTSW 11 65,043,809 (GRCm39) missense unknown
Z1187:1700086D15Rik UTSW 11 65,044,080 (GRCm39) missense unknown
Z1188:1700086D15Rik UTSW 11 65,044,080 (GRCm39) missense unknown
Z1188:1700086D15Rik UTSW 11 65,043,809 (GRCm39) missense unknown
Z1188:1700086D15Rik UTSW 11 65,043,794 (GRCm39) missense unknown
Z1188:1700086D15Rik UTSW 11 65,044,128 (GRCm39) missense unknown
Z1188:1700086D15Rik UTSW 11 65,044,114 (GRCm39) missense unknown
Z1189:1700086D15Rik UTSW 11 65,044,080 (GRCm39) missense unknown
Z1189:1700086D15Rik UTSW 11 65,043,809 (GRCm39) missense unknown
Z1189:1700086D15Rik UTSW 11 65,043,794 (GRCm39) missense unknown
Z1189:1700086D15Rik UTSW 11 65,044,128 (GRCm39) missense unknown
Z1189:1700086D15Rik UTSW 11 65,044,114 (GRCm39) missense unknown
Z1190:1700086D15Rik UTSW 11 65,044,080 (GRCm39) missense unknown
Z1190:1700086D15Rik UTSW 11 65,043,809 (GRCm39) missense unknown
Z1190:1700086D15Rik UTSW 11 65,043,794 (GRCm39) missense unknown
Z1190:1700086D15Rik UTSW 11 65,044,128 (GRCm39) missense unknown
Z1190:1700086D15Rik UTSW 11 65,044,114 (GRCm39) missense unknown
Z1191:1700086D15Rik UTSW 11 65,044,080 (GRCm39) missense unknown
Z1191:1700086D15Rik UTSW 11 65,043,809 (GRCm39) missense unknown
Z1191:1700086D15Rik UTSW 11 65,043,794 (GRCm39) missense unknown
Z1191:1700086D15Rik UTSW 11 65,044,128 (GRCm39) missense unknown
Z1191:1700086D15Rik UTSW 11 65,044,114 (GRCm39) missense unknown
Z1192:1700086D15Rik UTSW 11 65,044,080 (GRCm39) missense unknown
Z1192:1700086D15Rik UTSW 11 65,043,809 (GRCm39) missense unknown
Z1192:1700086D15Rik UTSW 11 65,043,794 (GRCm39) missense unknown
Z1192:1700086D15Rik UTSW 11 65,044,128 (GRCm39) missense unknown
Z1192:1700086D15Rik UTSW 11 65,044,114 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- AGGCTTGCCTCTCGATTCAG -3'
(R):5'- TTGAAATTGATGGGCATTTGTCTCC -3'

Sequencing Primer
(F):5'- TTCAGGCCTGCGTAGAAAGACTG -3'
(R):5'- GGCATTTGTCTCCTGCTCTAATCAAG -3'
Posted On 2016-11-21