Incidental Mutation 'R0517:2410137M14Rik'
ID 48255
Institutional Source Beutler Lab
Gene Symbol 2410137M14Rik
Ensembl Gene ENSMUSG00000064308
Gene Name RIKEN cDNA 2410137M14 gene
Synonyms
MMRRC Submission 038710-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R0517 (G1)
Quality Score 178
Status Validated
Chromosome 17
Chromosomal Location 37288593-37292129 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 37292024 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000133725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039846] [ENSMUST00000173707]
AlphaFold Q9CWF0
Predicted Effect probably benign
Transcript: ENSMUST00000039846
SMART Domains Protein: ENSMUSP00000044846
Gene: ENSMUSG00000064308

DomainStartEndE-ValueType
IGc1 17 88 1.87e-12 SMART
transmembrane domain 105 127 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145260
Predicted Effect probably benign
Transcript: ENSMUST00000173707
SMART Domains Protein: ENSMUSP00000133725
Gene: ENSMUSG00000064308

DomainStartEndE-ValueType
IGc1 17 88 1.87e-12 SMART
low complexity region 109 125 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 92.1%
Validation Efficiency 100% (62/62)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acer1 T C 17: 57,262,569 (GRCm39) T194A probably benign Het
Adamts1 C A 16: 85,597,241 (GRCm39) D10Y possibly damaging Het
Adamts7 T C 9: 90,081,911 (GRCm39) V1612A probably benign Het
Adcyap1r1 T A 6: 55,468,282 (GRCm39) S373T probably damaging Het
Asic5 A T 3: 81,916,833 (GRCm39) I266F probably benign Het
Cacna1d A T 14: 29,901,232 (GRCm39) I274K probably damaging Het
Camsap2 G T 1: 136,221,126 (GRCm39) Q238K possibly damaging Het
Ceacam15 A C 7: 16,407,445 (GRCm39) L24* probably null Het
Cerk G A 15: 86,040,849 (GRCm39) T170I probably damaging Het
Cyp27b1 T C 10: 126,885,985 (GRCm39) probably null Het
Cyp2c65 T C 19: 39,070,792 (GRCm39) probably benign Het
Dennd5a A G 7: 109,533,968 (GRCm39) S75P probably damaging Het
Dhx9 C T 1: 153,354,662 (GRCm39) A146T possibly damaging Het
Dpysl5 A G 5: 30,935,410 (GRCm39) D171G probably damaging Het
Dsg3 A G 18: 20,662,082 (GRCm39) N449S probably benign Het
Eps8l3 T C 3: 107,790,776 (GRCm39) S189P probably benign Het
Exph5 A G 9: 53,284,062 (GRCm39) E381G probably benign Het
Fbxo46 A G 7: 18,870,799 (GRCm39) M473V possibly damaging Het
Fgf14 G A 14: 124,221,196 (GRCm39) P203S probably damaging Het
Foxf2 C T 13: 31,810,226 (GRCm39) A55V unknown Het
Galnt5 T G 2: 57,925,385 (GRCm39) probably benign Het
Glis2 T C 16: 4,429,416 (GRCm39) L181P probably damaging Het
Gm10000 T G 12: 104,442,667 (GRCm39) probably benign Het
Helz2 A G 2: 180,869,563 (GRCm39) S2959P probably benign Het
Hyal6 A G 6: 24,734,852 (GRCm39) N262D probably benign Het
Lgr4 T C 2: 109,841,665 (GRCm39) L526P probably damaging Het
Mapk1 A T 16: 16,833,910 (GRCm39) I88F probably benign Het
Mpg A T 11: 32,181,853 (GRCm39) H287L probably benign Het
Mpp4 A T 1: 59,163,886 (GRCm39) Y489* probably null Het
Mpzl1 T C 1: 165,429,359 (GRCm39) E224G probably damaging Het
Myh10 A G 11: 68,702,425 (GRCm39) probably null Het
Odad2 A C 18: 7,223,621 (GRCm39) L474R probably damaging Het
Or13p8 T A 4: 118,583,831 (GRCm39) I129K probably damaging Het
Or5m9 T C 2: 85,877,548 (GRCm39) S241P probably damaging Het
Paip1 T A 13: 119,584,326 (GRCm39) F196I probably damaging Het
Pde3a A T 6: 141,444,383 (GRCm39) K1064* probably null Het
Pira2 A T 7: 3,847,196 (GRCm39) probably benign Het
Pros1 A G 16: 62,723,881 (GRCm39) S210G probably benign Het
Rbm15 A T 3: 107,238,685 (GRCm39) L571Q probably damaging Het
Scn1a T A 2: 66,132,751 (GRCm39) T1194S possibly damaging Het
Sema6a G A 18: 47,423,112 (GRCm39) probably null Het
Serpina1e G A 12: 103,915,486 (GRCm39) T240I probably benign Het
Setx T G 2: 29,047,145 (GRCm39) S1874R probably benign Het
Sgsm2 G T 11: 74,758,477 (GRCm39) T256K possibly damaging Het
Slc44a1 T C 4: 53,542,366 (GRCm39) V300A probably damaging Het
Spata46 A G 1: 170,139,178 (GRCm39) Y59C probably damaging Het
Supt3 T C 17: 45,430,158 (GRCm39) F404L probably benign Het
Tars1 T A 15: 11,394,452 (GRCm39) K62* probably null Het
Tas2r139 A C 6: 42,118,425 (GRCm39) T186P probably damaging Het
Tasor2 T A 13: 3,616,964 (GRCm39) T2367S possibly damaging Het
Tc2n C T 12: 101,615,454 (GRCm39) S457N probably damaging Het
Tox4 A T 14: 52,530,085 (GRCm39) S582C probably benign Het
Trappc12 T C 12: 28,747,133 (GRCm39) probably benign Het
Ubqlnl G T 7: 103,797,845 (GRCm39) Q551K probably damaging Het
Ubr4 A G 4: 139,119,435 (GRCm39) T205A probably benign Het
Urb1 G A 16: 90,574,310 (GRCm39) Q924* probably null Het
Vmn1r49 A G 6: 90,049,720 (GRCm39) L94P probably damaging Het
Vmn2r120 T C 17: 57,815,949 (GRCm39) Y802C probably damaging Het
Xrcc1 C T 7: 24,269,744 (GRCm39) probably benign Het
Other mutations in 2410137M14Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01761:2410137M14Rik APN 17 37,289,699 (GRCm39) missense probably damaging 0.98
IGL02972:2410137M14Rik APN 17 37,289,412 (GRCm39) missense possibly damaging 0.85
BB006:2410137M14Rik UTSW 17 37,289,412 (GRCm39) missense possibly damaging 0.85
BB016:2410137M14Rik UTSW 17 37,289,412 (GRCm39) missense possibly damaging 0.85
R2044:2410137M14Rik UTSW 17 37,288,986 (GRCm39) utr 3 prime probably benign
R2206:2410137M14Rik UTSW 17 37,288,965 (GRCm39) utr 3 prime probably benign
R2207:2410137M14Rik UTSW 17 37,288,965 (GRCm39) utr 3 prime probably benign
R4666:2410137M14Rik UTSW 17 37,289,794 (GRCm39) missense probably benign 0.03
R4806:2410137M14Rik UTSW 17 37,289,746 (GRCm39) missense probably benign 0.00
R7017:2410137M14Rik UTSW 17 37,288,926 (GRCm39) utr 3 prime probably benign
R7870:2410137M14Rik UTSW 17 37,288,909 (GRCm39) missense unknown
R7929:2410137M14Rik UTSW 17 37,289,412 (GRCm39) missense possibly damaging 0.85
X0021:2410137M14Rik UTSW 17 37,288,926 (GRCm39) utr 3 prime probably benign
Predicted Primers PCR Primer
(F):5'- AAAGTGGTCAGCACCATGTCCCAG -3'
(R):5'- TGGCTAAGGCAAACCTCGGTTC -3'

Sequencing Primer
(F):5'- AGCACCATGTCCCAGGTTAG -3'
(R):5'- TTCACCGAGGCTACATGGAC -3'
Posted On 2013-06-12