Incidental Mutation 'R4213:2310050C09Rik'
ID319293
Institutional Source Beutler Lab
Gene Symbol 2310050C09Rik
Ensembl Gene ENSMUSG00000090314
Gene NameRIKEN cDNA 2310050C09 gene
Synonyms
MMRRC Submission 041040-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.098) question?
Stock #R4213 (G1)
Quality Score225
Status Validated
Chromosome3
Chromosomal Location92868359-92870216 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 92869127 bp
ZygosityHeterozygous
Amino Acid Change Proline to Leucine at position 83 (P83L)
Ref Sequence ENSEMBL: ENSMUSP00000126921 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163439]
Predicted Effect probably benign
Transcript: ENSMUST00000163439
AA Change: P83L

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000126921
Gene: ENSMUSG00000090314
AA Change: P83L

DomainStartEndE-ValueType
low complexity region 17 28 N/A INTRINSIC
internal_repeat_1 47 96 3.58e-12 PROSPERO
internal_repeat_1 104 151 3.58e-12 PROSPERO
low complexity region 152 171 N/A INTRINSIC
low complexity region 220 258 N/A INTRINSIC
Meta Mutation Damage Score 0.2176 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.6%
Validation Efficiency 97% (38/39)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd11 A C 8: 122,891,026 V2029G probably benign Het
Arhgap28 A T 17: 67,871,993 V291E probably benign Het
Cad G A 5: 31,072,344 V1390I probably benign Het
Cadps2 A T 6: 23,599,463 D281E probably damaging Het
Celsr1 G A 15: 86,031,807 T655I probably damaging Het
Cep350 C G 1: 155,935,961 G411A probably damaging Het
Chml A T 1: 175,686,695 F210L probably damaging Het
Col4a4 A T 1: 82,453,144 M1679K unknown Het
Depdc1b T G 13: 108,388,691 F527V probably damaging Het
Dsg2 T C 18: 20,598,514 L731P probably benign Het
Fam69b C T 2: 26,635,948 T298I probably benign Het
Fbxo25 A G 8: 13,939,581 T343A probably damaging Het
Gk5 T C 9: 96,129,053 L72P probably damaging Het
Gm15448 C A 7: 3,821,554 A510S probably damaging Het
Gm648 C T X: 56,545,208 V78I probably benign Het
Gpr137c G A 14: 45,246,508 E231K probably damaging Het
Hdc C T 2: 126,597,866 probably null Het
Hydin A G 8: 110,456,507 N1112S possibly damaging Het
Itgae A G 11: 73,119,352 H556R probably benign Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 52,725,906 probably benign Het
Krtap17-1 A G 11: 99,993,914 L9P unknown Het
Nmur1 T G 1: 86,387,784 T87P probably damaging Het
Olfr1155 T C 2: 87,943,121 Y169C probably benign Het
Ppp2r5e A G 12: 75,469,551 I244T probably damaging Het
Robo3 C T 9: 37,421,898 G781D probably damaging Het
Siglec1 C T 2: 131,074,118 E1275K probably damaging Het
Slc2a12 A T 10: 22,702,094 K596N probably benign Het
Sorcs1 G A 19: 50,225,175 R705C probably damaging Het
Sqor G T 2: 122,787,498 G92V probably damaging Het
Tlr4 T A 4: 66,840,326 I452N probably damaging Het
Tob1 A G 11: 94,214,192 T185A probably damaging Het
Yjefn3 G T 8: 69,890,890 H50Q probably benign Het
Zswim1 T C 2: 164,825,785 V319A probably benign Het
Other mutations in 2310050C09Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02056:2310050C09Rik APN 3 92868893 missense probably benign 0.17
R0421:2310050C09Rik UTSW 3 92868984 missense probably damaging 0.99
R1388:2310050C09Rik UTSW 3 92869049 missense probably damaging 1.00
R2187:2310050C09Rik UTSW 3 92868615 missense probably damaging 1.00
R4240:2310050C09Rik UTSW 3 92868591 missense possibly damaging 0.89
R5394:2310050C09Rik UTSW 3 92868698 missense probably damaging 1.00
R6124:2310050C09Rik UTSW 3 92869058 missense probably damaging 1.00
R6804:2310050C09Rik UTSW 3 92869047 missense possibly damaging 0.67
R7293:2310050C09Rik UTSW 3 92868819 missense probably benign 0.32
R8049:2310050C09Rik UTSW 3 92868895 nonsense probably null
Z1176:2310050C09Rik UTSW 3 92869274 missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- CTGGACACTTGACAGAGGTC -3'
(R):5'- ATCTTGCGTGAAGGGTTCC -3'

Sequencing Primer
(F):5'- CGTCTGACACGGAGCTG -3'
(R):5'- CGTGAAGGGTTCCGGACTG -3'
Posted On2015-06-10