Incidental Mutation 'R4961:3110082I17Rik'
ID 381759
Institutional Source Beutler Lab
Gene Symbol 3110082I17Rik
Ensembl Gene ENSMUSG00000053553
Gene Name RIKEN cDNA 3110082I17 gene
Synonyms
MMRRC Submission 042558-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4961 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 139345494-139446282 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 139349855 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 65 (K65E)
Ref Sequence ENSEMBL: ENSMUSP00000142949 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066052] [ENSMUST00000198474]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000066052
AA Change: K65E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000069230
Gene: ENSMUSG00000053553
AA Change: K65E

DomainStartEndE-ValueType
low complexity region 54 77 N/A INTRINSIC
Pfam:DUF2373 103 165 3e-26 PFAM
low complexity region 184 194 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196267
Predicted Effect probably damaging
Transcript: ENSMUST00000198474
AA Change: K65E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000142949
Gene: ENSMUSG00000053553
AA Change: K65E

DomainStartEndE-ValueType
low complexity region 54 77 N/A INTRINSIC
Pfam:DUF2373 102 141 9e-12 PFAM
Meta Mutation Damage Score 0.1033 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.1%
  • 10x: 95.3%
  • 20x: 88.3%
Validation Efficiency 95% (62/65)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp5 C A 9: 22,041,233 (GRCm39) A65S probably benign Het
Adad2 G A 8: 120,342,397 (GRCm39) R345H probably damaging Het
Adamts7 G T 9: 90,067,793 (GRCm39) G428W probably damaging Het
Amy1 A G 3: 113,355,498 (GRCm39) S326P probably damaging Het
Ankrd44 C T 1: 54,703,071 (GRCm39) D482N probably damaging Het
Anks6 C T 4: 47,030,795 (GRCm39) G601S probably damaging Het
Ano8 G C 8: 71,935,640 (GRCm39) P326R probably damaging Het
Arhgef26 A G 3: 62,367,046 (GRCm39) E793G probably damaging Het
Cd9 A T 6: 125,440,703 (GRCm39) V96E probably damaging Het
Cdh9 A G 15: 16,850,914 (GRCm39) N561S probably benign Het
Col16a1 G A 4: 129,948,272 (GRCm39) probably null Het
Cpne7 G A 8: 123,860,498 (GRCm39) G484R probably damaging Het
Dcun1d4 A T 5: 73,701,463 (GRCm39) K194* probably null Het
Dock3 A G 9: 106,818,515 (GRCm39) V1193A probably damaging Het
Dst A G 1: 34,007,904 (GRCm39) R113G possibly damaging Het
Epha5 A T 5: 84,381,502 (GRCm39) S450T probably damaging Het
Gm5581 A T 6: 131,144,190 (GRCm39) noncoding transcript Het
Grhl3 A G 4: 135,279,918 (GRCm39) Y379H probably damaging Het
Herpud1 T C 8: 95,117,454 (GRCm39) S13P probably benign Het
Jam2 C T 16: 84,606,435 (GRCm39) Q150* probably null Het
Jph2 C G 2: 163,217,668 (GRCm39) R336P probably damaging Het
Kansl3 T A 1: 36,387,764 (GRCm39) probably null Het
Kctd1 G A 18: 15,195,580 (GRCm39) P348S probably damaging Het
Klhl30 T A 1: 91,285,106 (GRCm39) S321T possibly damaging Het
Klhl5 T C 5: 65,310,033 (GRCm39) probably benign Het
Letm2 T C 8: 26,084,108 (GRCm39) H41R possibly damaging Het
Ltn1 A T 16: 87,194,679 (GRCm39) C1407S probably benign Het
Map1b T C 13: 99,572,161 (GRCm39) T187A probably damaging Het
Marveld2 T C 13: 100,748,431 (GRCm39) N216S probably benign Het
Matn1 A G 4: 130,680,234 (GRCm39) Y437C probably damaging Het
Oas1h T C 5: 121,009,159 (GRCm39) Y290H probably damaging Het
Ofcc1 A G 13: 40,417,035 (GRCm39) probably null Het
Or2m12 C A 16: 19,104,726 (GRCm39) G256W probably damaging Het
Or4k51 A T 2: 111,584,750 (GRCm39) D52V probably damaging Het
Or8g34 A G 9: 39,373,183 (GRCm39) Y152C probably damaging Het
Otof C A 5: 30,540,837 (GRCm39) probably benign Het
Pcdh15 G T 10: 74,215,249 (GRCm39) probably null Het
Pgk2 G A 17: 40,518,412 (GRCm39) P339S probably damaging Het
Piezo2 T C 18: 63,186,032 (GRCm39) probably null Het
Prex2 A G 1: 11,168,705 (GRCm39) T234A possibly damaging Het
Rasgrf1 C T 9: 89,826,922 (GRCm39) T177M probably benign Het
Rgs1 A T 1: 144,124,309 (GRCm39) probably null Het
Snx25 T C 8: 46,521,229 (GRCm39) N239S probably damaging Het
Spata31d1a T A 13: 59,849,716 (GRCm39) H804L possibly damaging Het
Spon2 A T 5: 33,371,896 (GRCm39) Y303* probably null Het
Spopfm2 A T 3: 94,082,841 (GRCm39) C323* probably null Het
Thrb G A 14: 18,011,076 (GRCm38) D151N probably benign Het
Tns1 A G 1: 73,975,074 (GRCm39) V1170A probably benign Het
Trbv19 A T 6: 41,155,706 (GRCm39) I26F probably damaging Het
Tstd2 T C 4: 46,120,467 (GRCm39) N311S probably damaging Het
Ttn T A 2: 76,715,746 (GRCm39) probably benign Het
Ugt1a1 CAGAGAGAGAGAGA CAGAGAGAGAGA 1: 88,139,706 (GRCm39) probably benign Het
Vmn1r185 G A 7: 26,310,716 (GRCm39) A263V probably benign Het
Zfp316 T C 5: 143,239,169 (GRCm39) H950R probably damaging Het
Zfp51 A G 17: 21,676,615 (GRCm39) K29E probably benign Het
Zfp644 T C 5: 106,766,081 (GRCm39) probably benign Het
Other mutations in 3110082I17Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0614:3110082I17Rik UTSW 5 139,349,786 (GRCm39) missense possibly damaging 0.54
R0833:3110082I17Rik UTSW 5 139,349,875 (GRCm39) missense possibly damaging 0.54
R0836:3110082I17Rik UTSW 5 139,349,875 (GRCm39) missense possibly damaging 0.54
R3784:3110082I17Rik UTSW 5 139,441,197 (GRCm39) missense probably damaging 0.99
R3787:3110082I17Rik UTSW 5 139,441,197 (GRCm39) missense probably damaging 0.99
R5745:3110082I17Rik UTSW 5 139,349,828 (GRCm39) missense probably damaging 1.00
R7126:3110082I17Rik UTSW 5 139,347,005 (GRCm39) missense unknown
R7129:3110082I17Rik UTSW 5 139,349,738 (GRCm39) missense probably damaging 1.00
R7414:3110082I17Rik UTSW 5 139,349,779 (GRCm39) missense probably damaging 0.99
R7934:3110082I17Rik UTSW 5 139,349,770 (GRCm39) missense probably benign 0.24
R8169:3110082I17Rik UTSW 5 139,349,812 (GRCm39) missense probably damaging 1.00
R8861:3110082I17Rik UTSW 5 139,396,642 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- AATGGACCAGCTTCTACCCAG -3'
(R):5'- ACAAGGCTCAGGAAACCATG -3'

Sequencing Primer
(F):5'- AGCTTCTACCCAGTGCCATGG -3'
(R):5'- GTCCACTTGAAACCTGTCAGG -3'
Posted On 2016-04-27