Incidental Mutation 'R6795:2310002L09Rik'
ID 532963
Institutional Source Beutler Lab
Gene Symbol 2310002L09Rik
Ensembl Gene ENSMUSG00000028396
Gene Name RIKEN cDNA 2310002L09 gene
Synonyms
MMRRC Submission 044908-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R6795 (G1)
Quality Score 95.0077
Status Validated
Chromosome 4
Chromosomal Location 73857608-73869083 bp(-) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) C to A at 73869065 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000092633 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030101] [ENSMUST00000095023]
AlphaFold Q9D7L5
Predicted Effect probably benign
Transcript: ENSMUST00000030101
SMART Domains Protein: ENSMUSP00000030101
Gene: ENSMUSG00000028396

DomainStartEndE-ValueType
transmembrane domain 173 195 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000095023
SMART Domains Protein: ENSMUSP00000092633
Gene: ENSMUSG00000028396

DomainStartEndE-ValueType
transmembrane domain 174 196 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.8%
  • 20x: 96.7%
Validation Efficiency 100% (36/36)
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T A 6: 121,625,281 (GRCm39) probably null Het
Aadacl2fm3 A T 3: 59,776,357 (GRCm39) Y176F probably damaging Het
Agps A G 2: 75,724,402 (GRCm39) D472G probably damaging Het
Amfr A G 8: 94,726,961 (GRCm39) V158A probably benign Het
Birc2 A G 9: 7,833,873 (GRCm39) Y203H possibly damaging Het
Calr4 A G 4: 109,101,985 (GRCm39) N147D probably damaging Het
Cd8b1 T A 6: 71,303,324 (GRCm39) L133Q probably damaging Het
Cenpn T A 8: 117,652,887 (GRCm39) S19R probably benign Het
Ces2g A G 8: 105,694,449 (GRCm39) N494S probably damaging Het
Ces3a G A 8: 105,777,228 (GRCm39) G184R possibly damaging Het
Dlgap1 C A 17: 71,125,069 (GRCm39) A614E possibly damaging Het
Dpy19l1 C A 9: 24,414,158 (GRCm39) R90L possibly damaging Het
Ephb2 A C 4: 136,400,646 (GRCm39) L544R possibly damaging Het
Fanca T A 8: 124,045,232 (GRCm39) T21S probably benign Het
Fsip2 A T 2: 82,811,303 (GRCm39) M2541L probably benign Het
Galnt2 T C 8: 125,070,175 (GRCm39) F530S probably damaging Het
Gm19410 G A 8: 36,262,676 (GRCm39) C871Y probably damaging Het
Gmds C T 13: 32,418,335 (GRCm39) probably null Het
Hectd1 A G 12: 51,841,270 (GRCm39) V620A possibly damaging Het
Myo18b T C 5: 112,994,230 (GRCm39) T908A probably damaging Het
Or5d18 C T 2: 87,864,668 (GRCm39) V272I probably benign Het
Otogl G A 10: 107,612,978 (GRCm39) silent Het
Paqr5 C T 9: 61,871,065 (GRCm39) R171Q probably damaging Het
Pcf11 A C 7: 92,306,786 (GRCm39) N1127K probably benign Het
Plec T C 15: 76,064,338 (GRCm39) K1979E probably damaging Het
Prpf38b T C 3: 108,811,980 (GRCm39) probably benign Het
Sema5b T A 16: 35,478,941 (GRCm39) C588* probably null Het
Skint5 C T 4: 113,524,420 (GRCm39) E854K unknown Het
Slc25a42 A G 8: 70,641,040 (GRCm39) Y187H probably damaging Het
Slc30a5 A T 13: 100,953,577 (GRCm39) D182E probably damaging Het
Synrg A G 11: 83,910,740 (GRCm39) I1047V probably damaging Het
Tbc1d31 A G 15: 57,815,102 (GRCm39) D593G probably damaging Het
Thnsl1 C T 2: 21,218,303 (GRCm39) Q165* probably null Het
Ttc6 T C 12: 57,751,199 (GRCm39) F1364L probably damaging Het
Ttf2 G A 3: 100,866,578 (GRCm39) A518V probably damaging Het
Vmn1r6 A G 6: 56,979,422 (GRCm39) Y28C possibly damaging Het
Zzef1 A G 11: 72,741,485 (GRCm39) E709G probably benign Het
Other mutations in 2310002L09Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00561:2310002L09Rik APN 4 73,860,956 (GRCm39) missense possibly damaging 0.66
IGL01366:2310002L09Rik APN 4 73,868,937 (GRCm39) utr 5 prime probably benign
IGL02596:2310002L09Rik APN 4 73,868,904 (GRCm39) missense possibly damaging 0.94
R0841:2310002L09Rik UTSW 4 73,860,986 (GRCm39) missense probably benign
R2919:2310002L09Rik UTSW 4 73,868,845 (GRCm39) missense probably damaging 1.00
R6056:2310002L09Rik UTSW 4 73,861,115 (GRCm39) missense probably benign 0.00
R6889:2310002L09Rik UTSW 4 73,861,290 (GRCm39) missense probably benign 0.19
R7709:2310002L09Rik UTSW 4 73,861,091 (GRCm39) missense possibly damaging 0.52
R7793:2310002L09Rik UTSW 4 73,861,172 (GRCm39) missense probably benign 0.05
R8517:2310002L09Rik UTSW 4 73,861,206 (GRCm39) missense probably damaging 1.00
R8671:2310002L09Rik UTSW 4 73,861,166 (GRCm39) missense probably damaging 1.00
R8867:2310002L09Rik UTSW 4 73,861,087 (GRCm39) missense probably damaging 1.00
R8938:2310002L09Rik UTSW 4 73,861,424 (GRCm39) missense probably damaging 1.00
R9618:2310002L09Rik UTSW 4 73,868,934 (GRCm39) start codon destroyed probably null 0.46
Predicted Primers PCR Primer
(F):5'- AATGGAGGCTTCGTTGAGTCC -3'
(R):5'- TGAAGCCATACTATCAGAGCCAAG -3'

Sequencing Primer
(F):5'- GTTGAGTCCTGATCTTCACCAAG -3'
(R):5'- GCTGTTTCTTCCATTGTAGAATTAGG -3'
Posted On 2018-08-29