Incidental Mutation 'R0414:1700016H13Rik'
ID 40158
Institutional Source Beutler Lab
Gene Symbol 1700016H13Rik
Ensembl Gene ENSMUSG00000029320
Gene Name RIKEN cDNA 1700016H13 gene
Synonyms
MMRRC Submission 038616-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0414 (G1)
Quality Score 215
Status Validated
Chromosome 5
Chromosomal Location 103796449-103803898 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 103797356 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 51 (V51E)
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: V51E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000113935
Gene: ENSMUSG00000029320
AA Change: V51E

DomainStartEndE-ValueType
Pfam:DUF4522 1 117 3.5e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120108
AA Change: V51E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000113969
Gene: ENSMUSG00000029320
AA Change: V51E

DomainStartEndE-ValueType
Pfam:DUF4522 1 117 3.5e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120688
AA Change: V51E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000113469
Gene: ENSMUSG00000029320
AA Change: V51E

DomainStartEndE-ValueType
Pfam:DUF4522 1 117 3.5e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134926
AA Change: V51E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000114503
Gene: ENSMUSG00000029320
AA Change: V51E

DomainStartEndE-ValueType
Pfam:DUF4522 1 117 9.7e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154096
Predicted Effect probably benign
Transcript: ENSMUST00000154408
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.6%
Validation Efficiency 96% (64/67)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abo T C 2: 26,733,428 (GRCm39) Y259C probably damaging Het
Adamts5 A G 16: 85,674,794 (GRCm39) S457P probably damaging Het
Alk G T 17: 72,206,281 (GRCm39) probably benign Het
Alpk2 A G 18: 65,439,230 (GRCm39) I1188T probably benign Het
Ambra1 T C 2: 91,706,084 (GRCm39) S730P possibly damaging Het
Arhgef2 T C 3: 88,539,575 (GRCm39) probably benign Het
Atpsckmt T A 15: 31,617,148 (GRCm39) Y126* probably null Het
B3gnt7 T C 1: 86,233,351 (GRCm39) I82T probably damaging Het
B4galnt3 T C 6: 120,193,526 (GRCm39) D400G probably benign Het
Bag4 A G 8: 26,258,025 (GRCm39) V434A possibly damaging Het
Cfap251 A G 5: 123,425,476 (GRCm39) probably null Het
Cfc1 A G 1: 34,576,409 (GRCm39) D130G probably damaging Het
Chd4 T C 6: 125,084,443 (GRCm39) Y692H probably damaging Het
Cilp2 A G 8: 70,335,643 (GRCm39) S452P probably benign Het
Clec2m T C 6: 129,303,813 (GRCm39) probably benign Het
Crybg2 GAGAAGAAG GAGAAG 4: 133,799,947 (GRCm39) probably benign Het
Dnah2 T C 11: 69,390,064 (GRCm39) D727G probably benign Het
Dock10 C A 1: 80,513,650 (GRCm39) V1129F possibly damaging Het
Dsc1 A T 18: 20,221,411 (GRCm39) I688N possibly damaging Het
Dyrk1a C G 16: 94,464,701 (GRCm39) T103R probably damaging Het
Ebf1 C T 11: 44,815,297 (GRCm39) R304* probably null Het
Eif2s2 A G 2: 154,726,381 (GRCm39) probably benign Het
Endov T G 11: 119,390,397 (GRCm39) Y8* probably null Het
Eps15 T A 4: 109,223,677 (GRCm39) D485E probably damaging Het
Fam118a C A 15: 84,929,890 (GRCm39) S39R probably damaging Het
Fbxo22 T A 9: 55,130,910 (GRCm39) M393K possibly damaging Het
Firrm T C 1: 163,795,890 (GRCm39) I434V probably benign Het
Gab1 A G 8: 81,526,918 (GRCm39) I60T probably damaging Het
Gapvd1 A G 2: 34,583,439 (GRCm39) L1059P probably benign Het
Gbp5 A G 3: 142,213,674 (GRCm39) probably null Het
Glb1l2 T A 9: 26,676,400 (GRCm39) K487* probably null Het
H1f1 A G 13: 23,948,141 (GRCm39) probably benign Het
Hmcn1 T C 1: 150,591,573 (GRCm39) I1875M possibly damaging Het
Jkamp T C 12: 72,140,919 (GRCm39) probably null Het
Kprp C T 3: 92,733,020 (GRCm39) C10Y probably damaging Het
Lrig2 A G 3: 104,401,372 (GRCm39) probably null Het
Lrrn3 T A 12: 41,503,939 (GRCm39) N126I probably damaging Het
Mug1 T C 6: 121,833,513 (GRCm39) F325L probably benign Het
Myadm AC ACC 7: 3,345,276 (GRCm39) probably null Het
Nagk C T 6: 83,774,249 (GRCm39) R87* probably null Het
Nipal4 T A 11: 46,052,735 (GRCm39) I77F probably damaging Het
Or4c112 A G 2: 88,853,490 (GRCm39) Y286H probably damaging Het
Osbp2 T C 11: 3,769,932 (GRCm39) H250R probably damaging Het
Pcx T C 19: 4,657,670 (GRCm39) V378A possibly damaging Het
Pfkp T A 13: 6,643,246 (GRCm39) H524L probably benign Het
Picalm A T 7: 89,838,406 (GRCm39) N370I possibly damaging Het
Plcl2 A C 17: 50,914,983 (GRCm39) D664A possibly damaging Het
Ptpn5 G A 7: 46,732,884 (GRCm39) P320S probably benign Het
Scn3a T A 2: 65,356,326 (GRCm39) probably benign Het
Sfswap A G 5: 129,581,115 (GRCm39) D96G possibly damaging Het
Slfn1 A G 11: 83,012,096 (GRCm39) I71V probably benign Het
Spata1 A G 3: 146,181,943 (GRCm39) probably null Het
Stx18 T C 5: 38,262,349 (GRCm39) probably benign Het
Suox T A 10: 128,507,326 (GRCm39) H234L probably benign Het
Tbc1d17 T C 7: 44,495,483 (GRCm39) S114G probably benign Het
Tfeb T A 17: 48,099,224 (GRCm39) probably null Het
Tnks A C 8: 35,320,463 (GRCm39) V736G probably damaging Het
Wdhd1 T C 14: 47,514,045 (GRCm39) T4A probably benign 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
R0883:1700016H13Rik UTSW 5 103,796,687 (GRCm39) makesense probably null
R5655:1700016H13Rik UTSW 5 103,796,746 (GRCm39) missense probably benign 0.09
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'- GCAAATGAAGCCATCTGAGCAGC -3'
(R):5'- GGCAGCGAGACATCATCTGTACATC -3'

Sequencing Primer
(F):5'- AGCCATCTGAGCAGCATTTG -3'
(R):5'- ATCATCTGTACATCACGCAGTG -3'
Posted On 2013-05-23