Incidental Mutation 'R5655:1700016H13Rik'
ID 442237
Institutional Source Beutler Lab
Gene Symbol 1700016H13Rik
Ensembl Gene ENSMUSG00000029320
Gene Name RIKEN cDNA 1700016H13 gene
Synonyms
MMRRC Submission 043301-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5655 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 103796449-103803898 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 103796746 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 99 (I99F)
Ref Sequence ENSEMBL: ENSMUSP00000114503 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031261] [ENSMUST00000119824] [ENSMUST00000120108] [ENSMUST00000120688] [ENSMUST00000134926] [ENSMUST00000154096] [ENSMUST00000154408]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000031261
Predicted Effect probably benign
Transcript: ENSMUST00000119824
AA Change: I99F

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000113935
Gene: ENSMUSG00000029320
AA Change: I99F

DomainStartEndE-ValueType
Pfam:DUF4522 1 117 3.5e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120108
AA Change: I99F

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000113969
Gene: ENSMUSG00000029320
AA Change: I99F

DomainStartEndE-ValueType
Pfam:DUF4522 1 117 3.5e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120688
AA Change: I99F

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000113469
Gene: ENSMUSG00000029320
AA Change: I99F

DomainStartEndE-ValueType
Pfam:DUF4522 1 117 3.5e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134926
AA Change: I99F

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000114503
Gene: ENSMUSG00000029320
AA Change: I99F

DomainStartEndE-ValueType
Pfam:DUF4522 1 117 9.7e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154096
Predicted Effect probably benign
Transcript: ENSMUST00000154408
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan G A 7: 78,749,791 (GRCm39) D1521N possibly damaging Het
Acap3 C T 4: 155,981,076 (GRCm39) T53I probably benign Het
Actr3b G T 5: 26,053,366 (GRCm39) V232F probably damaging Het
Adgrl1 G A 8: 84,665,230 (GRCm39) V1311M possibly damaging Het
Arhgap23 T C 11: 97,343,372 (GRCm39) probably null Het
Asns A C 6: 7,685,309 (GRCm39) M116R probably benign Het
Asprv1 A T 6: 86,605,464 (GRCm39) E103D probably benign Het
Atxn2 T C 5: 121,885,489 (GRCm39) I232T probably damaging Het
B020004C17Rik C T 14: 57,252,689 (GRCm39) probably benign Het
Bckdha A G 7: 25,329,789 (GRCm39) Y414H probably damaging Het
Bod1l G A 5: 41,974,387 (GRCm39) T2309M probably benign Het
Cacna2d1 T A 5: 16,507,333 (GRCm39) F361I probably damaging Het
Cdc45 C T 16: 18,626,029 (GRCm39) probably null Het
Cog4 A G 8: 111,589,939 (GRCm39) Y368C probably damaging Het
Cplx3 C T 9: 57,523,258 (GRCm39) V100M probably damaging Het
Cyp4a12b C G 4: 115,290,994 (GRCm39) H341D probably damaging Het
Ddx10 A T 9: 53,120,987 (GRCm39) probably null Het
Dnah12 A T 14: 26,431,424 (GRCm39) Y414F probably benign Het
Dync1h1 A G 12: 110,595,496 (GRCm39) K1445R probably benign Het
Dync2h1 A C 9: 7,148,659 (GRCm39) D928E probably benign Het
Dzip1 T A 14: 119,124,644 (GRCm39) probably null Het
Fam8a1 T A 13: 46,827,814 (GRCm39) L334H probably damaging Het
Fgf14 T C 14: 124,429,828 (GRCm39) N36D probably benign Het
Fmnl3 A T 15: 99,219,743 (GRCm39) F668L probably damaging Het
Foxl2 C T 9: 98,838,048 (GRCm39) P112L probably damaging Het
Foxp2 T G 6: 15,197,112 (GRCm39) H51Q probably damaging Het
Frem3 A T 8: 81,339,323 (GRCm39) T539S probably benign Het
Ftcd G T 10: 76,423,937 (GRCm39) G493C probably damaging Het
Gab2 A G 7: 96,948,099 (GRCm39) S230G probably benign Het
Gabra1 A T 11: 42,073,750 (GRCm39) probably null Het
Gm14496 A T 2: 181,637,975 (GRCm39) I350L probably benign Het
Idh2 A C 7: 79,747,996 (GRCm39) C235G probably damaging Het
Ift140 C T 17: 25,264,038 (GRCm39) L514F probably damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Lamc3 C A 2: 31,815,729 (GRCm39) R1142S probably benign Het
Lmod2 A T 6: 24,603,853 (GRCm39) H276L possibly damaging Het
Lrrc37a T A 11: 103,389,381 (GRCm39) I2015L probably benign Het
Mcf2l A G 8: 13,060,444 (GRCm39) E764G probably damaging Het
Mcph1 G A 8: 18,838,326 (GRCm39) M749I probably benign Het
Msh2 C T 17: 88,026,871 (GRCm39) A789V possibly damaging Het
Ndufa2 T C 18: 36,877,519 (GRCm39) I19V probably benign Het
Neurod4 T A 10: 130,107,002 (GRCm39) K91* probably null Het
Nos1 G T 5: 118,061,322 (GRCm39) G883C probably damaging Het
Npdc1 A T 2: 25,297,692 (GRCm39) H121L possibly damaging Het
Or2ak5 G A 11: 58,611,077 (GRCm39) H266Y probably damaging Het
Or3a10 A C 11: 73,935,160 (GRCm39) Y313* probably null Het
Orc1 A G 4: 108,450,636 (GRCm39) I123V probably benign Het
P2ry13 C T 3: 59,117,260 (GRCm39) V173M possibly damaging Het
Pigk T A 3: 152,445,858 (GRCm39) N156K probably damaging Het
Pik3ap1 A T 19: 41,286,680 (GRCm39) F569Y possibly damaging Het
Pla2g4c T A 7: 13,063,889 (GRCm39) probably null Het
Plk3 A G 4: 116,988,677 (GRCm39) L324P probably damaging Het
Pom121 A G 5: 135,421,171 (GRCm39) S260P unknown Het
Prkn C T 17: 11,456,536 (GRCm39) A119V probably damaging Het
Prrt2 G A 7: 126,618,574 (GRCm39) A297V probably damaging Het
Prss47 A T 13: 65,192,857 (GRCm39) V308E probably damaging Het
Ptbp2 T C 3: 119,517,806 (GRCm39) I139V probably benign Het
Ptprz1 A T 6: 22,999,772 (GRCm39) M621L probably benign Het
Rab6a G A 7: 100,257,501 (GRCm39) probably null Het
Ranbp1 C T 16: 18,059,669 (GRCm39) D127N probably damaging Het
Rnpepl1 G T 1: 92,847,032 (GRCm39) R272L probably damaging Het
Slc27a2 T C 2: 126,420,859 (GRCm39) L314P probably damaging Het
Slc6a5 A T 7: 49,606,218 (GRCm39) M709L probably benign Het
Smarcc1 A T 9: 109,986,412 (GRCm39) S238C probably null Het
Snx29 C T 16: 11,573,185 (GRCm39) L476F probably damaging Het
Sorbs2 T C 8: 46,194,618 (GRCm39) probably null Het
St6galnac2 T C 11: 116,575,972 (GRCm39) N160D probably damaging Het
Thsd7b A G 1: 129,556,671 (GRCm39) probably null Het
Trpc4ap G A 2: 155,495,547 (GRCm39) T306I possibly damaging Het
Ubr5 T G 15: 38,015,337 (GRCm39) Y891S probably damaging Het
Vmn1r220 A G 13: 23,368,298 (GRCm39) F133L probably benign Het
Vmn1r56 T A 7: 5,198,700 (GRCm39) I306F possibly damaging Het
Vmn1r67 T C 7: 10,181,315 (GRCm39) V193A probably benign Het
Yipf1 T A 4: 107,202,354 (GRCm39) V239E probably damaging Het
Zfp7 G T 15: 76,775,629 (GRCm39) C557F probably damaging Het
Other mutations in 1700016H13Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01086:1700016H13Rik APN 5 103,796,729 (GRCm39) missense probably damaging 0.97
R0197:1700016H13Rik UTSW 5 103,796,687 (GRCm39) makesense probably null
R0414:1700016H13Rik UTSW 5 103,797,356 (GRCm39) missense probably benign 0.00
R0883:1700016H13Rik UTSW 5 103,796,687 (GRCm39) makesense probably null
R7841:1700016H13Rik UTSW 5 103,802,806 (GRCm39) missense possibly damaging 0.95
R7861:1700016H13Rik UTSW 5 103,797,360 (GRCm39) missense possibly damaging 0.93
Z1088:1700016H13Rik UTSW 5 103,797,434 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGAAACACTGGCCTCATCG -3'
(R):5'- CTGCTCAGATGGCTTCATTTG -3'

Sequencing Primer
(F):5'- GCCTCATCGCCATAGGC -3'
(R):5'- TGGAACTCACTCTGTAGACCAGG -3'
Posted On 2016-11-09