Incidental Mutation 'R3784:3110082I17Rik'
ID 272165
Institutional Source Beutler Lab
Gene Symbol 3110082I17Rik
Ensembl Gene ENSMUSG00000053553
Gene Name RIKEN cDNA 3110082I17 gene
Synonyms
MMRRC Submission 040876-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3784 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 139345494-139446282 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 139441197 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 35 (P35Q)
Ref Sequence ENSEMBL: ENSMUSP00000069230 (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: P35Q

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000069230
Gene: ENSMUSG00000053553
AA Change: P35Q

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 noncoding transcript
Transcript: ENSMUST00000197512
Predicted Effect possibly damaging
Transcript: ENSMUST00000198474
AA Change: P35Q

PolyPhen 2 Score 0.517 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000142949
Gene: ENSMUSG00000053553
AA Change: P35Q

DomainStartEndE-ValueType
low complexity region 54 77 N/A INTRINSIC
Pfam:DUF2373 102 141 9e-12 PFAM
Meta Mutation Damage Score 0.0726 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 100% (44/44)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
Adam11 T C 11: 102,665,193 (GRCm39) probably null Het
Ank2 A G 3: 126,746,842 (GRCm39) L581P probably damaging Het
Armc2 T C 10: 41,798,190 (GRCm39) I779V probably benign Het
Atp8a2 A T 14: 60,011,415 (GRCm39) Y965N probably damaging Het
C3 A G 17: 57,533,067 (GRCm39) V146A probably damaging Het
Cfap206 A T 4: 34,716,445 (GRCm39) I340N probably damaging Het
Col3a1 A G 1: 45,386,295 (GRCm39) D145G probably damaging Het
Drosha A G 15: 12,890,615 (GRCm39) D954G possibly damaging Het
Fam161b A T 12: 84,408,464 (GRCm39) probably null Het
Fat2 C T 11: 55,147,012 (GRCm39) A3995T probably benign Het
Foxg1 A G 12: 49,432,382 (GRCm39) T372A probably benign Het
Heatr1 G T 13: 12,449,341 (GRCm39) L1946F probably damaging Het
Hook1 T C 4: 95,877,888 (GRCm39) F55L probably damaging Het
Iars2 T C 1: 185,019,328 (GRCm39) K986R probably benign Het
Inpp5k T C 11: 75,538,512 (GRCm39) L461P probably damaging Het
Klra8 T A 6: 130,102,018 (GRCm39) D139V probably benign Het
Mical3 T C 6: 120,998,298 (GRCm39) Y20C probably benign Het
Myo15a A T 11: 60,368,398 (GRCm39) Y386F probably damaging Het
Ncoa6 G A 2: 155,249,677 (GRCm39) T1209I probably damaging Het
Nsa2 G T 13: 97,272,042 (GRCm39) Q60K possibly damaging Het
Olfml2b A G 1: 170,509,551 (GRCm39) D633G probably damaging Het
Plekhg3 T C 12: 76,607,294 (GRCm39) probably null Het
Plxna2 T A 1: 194,326,925 (GRCm39) D286E probably benign Het
Pmepa1 G A 2: 173,069,926 (GRCm39) R210W probably damaging Het
Prmt7 C A 8: 106,968,768 (GRCm39) Q361K probably benign Het
Prrc2c T C 1: 162,537,238 (GRCm39) probably benign Het
Psg27 T A 7: 18,294,279 (GRCm39) Q376L probably damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rad51b C T 12: 79,347,419 (GRCm39) Q28* probably null Het
Rala T A 13: 18,057,031 (GRCm39) E185V probably benign Het
Sall4 A G 2: 168,598,043 (GRCm39) S266P probably damaging Het
Senp6 T G 9: 79,999,568 (GRCm39) I74S probably benign Het
Spats2l A G 1: 57,924,938 (GRCm39) E112G probably damaging Het
Synrg T C 11: 83,892,746 (GRCm39) F613S probably damaging Het
Taf15 G A 11: 83,397,248 (GRCm39) D313N unknown Het
Tekt1 A G 11: 72,235,720 (GRCm39) I376T probably damaging Het
Thbs4 T C 13: 92,909,672 (GRCm39) N375S probably benign Het
Tubb6 A G 18: 67,526,063 (GRCm39) T72A possibly damaging Het
Txndc16 A T 14: 45,403,343 (GRCm39) V32E probably damaging Het
Vmn1r200 A T 13: 22,580,025 (GRCm39) Y276F possibly damaging 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
R3787:3110082I17Rik UTSW 5 139,441,197 (GRCm39) missense probably damaging 0.99
R4961:3110082I17Rik UTSW 5 139,349,855 (GRCm39) missense probably damaging 1.00
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'- AGCTTCCAGAGAATATAGCCAG -3'
(R):5'- CGTTTGTGTTACACCGAGAAAG -3'

Sequencing Primer
(F):5'- AGGAGGCTCCGGATCCCAG -3'
(R):5'- TTGTGTTACACCGAGAAAGCATCC -3'
Posted On 2015-03-25