Incidental Mutation 'R1536:2310003L06Rik'
ID 169521
Institutional Source Beutler Lab
Gene Symbol 2310003L06Rik
Ensembl Gene ENSMUSG00000007457
Gene Name RIKEN cDNA 2310003L06 gene
Synonyms
MMRRC Submission 039575-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R1536 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 88117318-88120729 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 88118524 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 3 (I3F)
Ref Sequence ENSEMBL: ENSMUSP00000007601 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007601] [ENSMUST00000187738]
AlphaFold Q9CV82
Predicted Effect probably benign
Transcript: ENSMUST00000007601
AA Change: I3F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000007601
Gene: ENSMUSG00000007457
AA Change: I3F

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000069773
SMART Domains Protein: ENSMUSP00000070337
Gene: ENSMUSG00000055961

DomainStartEndE-ValueType
coiled coil region 39 145 N/A INTRINSIC
low complexity region 234 245 N/A INTRINSIC
low complexity region 265 295 N/A INTRINSIC
low complexity region 307 335 N/A INTRINSIC
low complexity region 350 361 N/A INTRINSIC
low complexity region 405 424 N/A INTRINSIC
low complexity region 439 449 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000187738
AA Change: I3F
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190123
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199477
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.5%
Validation Efficiency 98% (59/60)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A G 6: 91,894,016 (GRCm39) N211S probably benign Het
A2ml1 A T 6: 128,524,196 (GRCm39) Y1145* probably null Het
Abca7 A G 10: 79,850,064 (GRCm39) D1972G probably benign Het
Adamts19 A T 18: 59,185,687 (GRCm39) D1187V probably damaging Het
Adcy6 G C 15: 98,497,888 (GRCm39) I421M probably damaging Het
Afap1 C A 5: 36,131,835 (GRCm39) H387Q probably damaging Het
Atp8b1 C T 18: 64,678,335 (GRCm39) V854M probably damaging Het
Auts2 C T 5: 131,516,302 (GRCm39) probably benign Het
Cbll1 T C 12: 31,537,855 (GRCm39) D300G probably damaging Het
Cd200r4 A T 16: 44,653,412 (GRCm39) T61S possibly damaging Het
Chmp4c G T 3: 10,454,744 (GRCm39) V207L probably benign Het
Cntn5 T C 9: 9,976,321 (GRCm39) T413A possibly damaging Het
Cox7a2 T A 9: 79,665,863 (GRCm39) probably null Het
Cwc27 A G 13: 104,933,814 (GRCm39) L236P probably damaging Het
Diaph1 A G 18: 38,029,146 (GRCm39) probably null Het
Dst T A 1: 34,299,453 (GRCm39) probably benign Het
Ear1 T A 14: 44,056,583 (GRCm39) H95L probably damaging Het
Enpp1 T A 10: 24,517,732 (GRCm39) H898L probably benign Het
Entpd5 G A 12: 84,429,069 (GRCm39) R321* probably null Het
Ercc6l2 C A 13: 63,972,685 (GRCm39) N177K possibly damaging Het
Ergic1 T C 17: 26,860,680 (GRCm39) probably null Het
Erich6 A T 3: 58,534,019 (GRCm39) I336N probably benign Het
Fmnl2 A G 2: 52,995,549 (GRCm39) E424G probably damaging Het
Galnt3 A T 2: 65,914,550 (GRCm39) D622E probably damaging Het
Gjd4 T A 18: 9,280,569 (GRCm39) T170S probably damaging Het
Gm5611 G A 9: 16,941,903 (GRCm39) noncoding transcript Het
Gpc5 T A 14: 115,636,662 (GRCm39) N448K probably benign Het
Klra3 G C 6: 130,310,107 (GRCm39) R138G probably benign Het
Maco1 A G 4: 134,531,818 (GRCm39) V617A probably damaging Het
Man2b2 T C 5: 36,978,271 (GRCm39) T338A probably benign Het
Mbtps1 A T 8: 120,272,864 (GRCm39) S94T probably benign Het
Muc3a A T 5: 137,244,538 (GRCm39) S205T unknown Het
Nav2 C A 7: 49,195,682 (GRCm39) D1019E probably damaging Het
Neurl4 T A 11: 69,794,252 (GRCm39) L236* probably null Het
Or13c25 A G 4: 52,911,260 (GRCm39) V178A probably benign Het
Plcxd3 T C 15: 4,546,093 (GRCm39) probably benign Het
Pprc1 T C 19: 46,059,965 (GRCm39) probably benign Het
Prkaa2 T A 4: 104,932,647 (GRCm39) N67I probably damaging Het
Prom1 T A 5: 44,175,695 (GRCm39) Y508F probably benign Het
Prx A G 7: 27,216,683 (GRCm39) M534V probably damaging Het
Rps6kc1 C T 1: 190,603,965 (GRCm39) R219Q possibly damaging Het
Sbf2 T C 7: 109,977,250 (GRCm39) Y628C probably damaging Het
Slc1a2 A T 2: 102,607,855 (GRCm39) D501V probably benign Het
Spata31 A T 13: 65,069,196 (GRCm39) Q448L probably damaging Het
Stk35 T C 2: 129,653,155 (GRCm39) probably benign Het
Stxbp5 T A 10: 9,713,836 (GRCm39) R234S probably damaging Het
Tifab A G 13: 56,324,101 (GRCm39) V114A probably benign Het
Tiprl A G 1: 165,055,975 (GRCm39) M49T probably benign Het
Tlr12 A G 4: 128,511,545 (GRCm39) L235P possibly damaging Het
Trim43b A T 9: 88,967,411 (GRCm39) C407* probably null Het
Txndc17 C A 11: 72,098,533 (GRCm39) F28L probably damaging Het
Vmn2r27 T C 6: 124,177,649 (GRCm39) R452G probably damaging Het
Vmn2r3 T A 3: 64,182,538 (GRCm39) D387V probably damaging Het
Vps13b T C 15: 35,875,712 (GRCm39) I2699T probably damaging Het
Zfp944 G T 17: 22,558,697 (GRCm39) Y183* probably null Het
Other mutations in 2310003L06Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01396:2310003L06Rik APN 5 88,120,649 (GRCm39) missense probably benign 0.37
IGL01938:2310003L06Rik APN 5 88,119,567 (GRCm39) missense probably damaging 0.99
IGL03032:2310003L06Rik APN 5 88,119,774 (GRCm39) missense possibly damaging 0.94
D3080:2310003L06Rik UTSW 5 88,119,846 (GRCm39) missense possibly damaging 0.53
G1Funyon:2310003L06Rik UTSW 5 88,120,364 (GRCm39) missense probably benign 0.01
IGL02984:2310003L06Rik UTSW 5 88,120,662 (GRCm39) missense probably damaging 0.97
PIT4243001:2310003L06Rik UTSW 5 88,119,999 (GRCm39) missense possibly damaging 0.95
R0359:2310003L06Rik UTSW 5 88,112,455 (GRCm39) unclassified probably benign
R0676:2310003L06Rik UTSW 5 88,112,516 (GRCm39) unclassified probably benign
R1524:2310003L06Rik UTSW 5 88,119,548 (GRCm39) missense probably benign 0.37
R1998:2310003L06Rik UTSW 5 88,118,553 (GRCm39) missense probably damaging 0.98
R2080:2310003L06Rik UTSW 5 88,119,792 (GRCm39) missense probably damaging 1.00
R2132:2310003L06Rik UTSW 5 88,112,335 (GRCm39) unclassified probably benign
R2177:2310003L06Rik UTSW 5 88,120,312 (GRCm39) missense probably damaging 0.98
R2399:2310003L06Rik UTSW 5 88,120,338 (GRCm39) missense probably damaging 0.98
R3748:2310003L06Rik UTSW 5 88,112,422 (GRCm39) unclassified probably benign
R4010:2310003L06Rik UTSW 5 88,120,136 (GRCm39) missense probably damaging 0.96
R4096:2310003L06Rik UTSW 5 88,120,008 (GRCm39) missense possibly damaging 0.57
R4656:2310003L06Rik UTSW 5 88,112,534 (GRCm39) unclassified probably benign
R4823:2310003L06Rik UTSW 5 88,120,457 (GRCm39) missense probably benign 0.00
R5753:2310003L06Rik UTSW 5 88,120,374 (GRCm39) missense probably damaging 0.99
R6087:2310003L06Rik UTSW 5 88,119,621 (GRCm39) missense possibly damaging 0.94
R6931:2310003L06Rik UTSW 5 88,118,561 (GRCm39) missense probably damaging 0.97
R7032:2310003L06Rik UTSW 5 88,120,438 (GRCm39) missense possibly damaging 0.79
R7703:2310003L06Rik UTSW 5 88,120,671 (GRCm39) missense possibly damaging 0.90
R7912:2310003L06Rik UTSW 5 88,120,451 (GRCm39) missense probably benign 0.35
R8185:2310003L06Rik UTSW 5 88,120,011 (GRCm39) missense possibly damaging 0.73
R8301:2310003L06Rik UTSW 5 88,120,364 (GRCm39) missense probably benign 0.01
R9010:2310003L06Rik UTSW 5 88,119,504 (GRCm39) missense possibly damaging 0.68
R9179:2310003L06Rik UTSW 5 88,119,890 (GRCm39) missense probably benign 0.00
R9225:2310003L06Rik UTSW 5 88,120,433 (GRCm39) missense probably benign
R9226:2310003L06Rik UTSW 5 88,118,518 (GRCm39) start codon destroyed probably benign 0.14
R9309:2310003L06Rik UTSW 5 88,120,332 (GRCm39) missense probably damaging 0.99
R9373:2310003L06Rik UTSW 5 88,120,668 (GRCm39) missense probably benign 0.37
R9431:2310003L06Rik UTSW 5 88,120,325 (GRCm39) missense possibly damaging 0.78
Z1088:2310003L06Rik UTSW 5 88,120,165 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- CTCAAAGCAACTATGTATCGTCCGTGT -3'
(R):5'- gagctacccttagcCCACTTTTGATTT -3'

Sequencing Primer
(F):5'- tgggaggcagaggcagg -3'
(R):5'- CCTCATCAATGTTCAGTTTA -3'
Posted On 2014-04-13