Incidental Mutation 'R0676:2310003L06Rik'
ID 61648
Institutional Source Beutler Lab
Gene Symbol 2310003L06Rik
Ensembl Gene ENSMUSG00000007457
Gene Name RIKEN cDNA 2310003L06 gene
Synonyms
MMRRC Submission 038861-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R0676 (G1)
Quality Score 123
Status Validated
Chromosome 5
Chromosomal Location 88117318-88120729 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 88112516 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139916 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007601] [ENSMUST00000187738]
AlphaFold Q9CV82
Predicted Effect probably benign
Transcript: ENSMUST00000007601
SMART Domains Protein: ENSMUSP00000007601
Gene: ENSMUSG00000007457

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 probably benign
Transcript: ENSMUST00000187738
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190123
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199477
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 95.2%
Validation Efficiency 100% (52/52)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef25 A G 10: 127,019,879 (GRCm39) probably null Het
B3galnt2 T C 13: 14,170,378 (GRCm39) S243P probably benign Het
Col11a2 A G 17: 34,276,249 (GRCm39) N799D probably damaging Het
Cpb1 T C 3: 20,320,697 (GRCm39) probably null Het
Crot A C 5: 9,043,622 (GRCm39) probably benign Het
Ctnna3 A C 10: 64,245,040 (GRCm39) H451P probably benign Het
Cts6 C T 13: 61,345,298 (GRCm39) probably benign Het
Dock2 T C 11: 34,586,063 (GRCm39) T540A probably damaging Het
Dysf C A 6: 84,090,318 (GRCm39) F956L probably benign Het
Gabrg3 A T 7: 56,374,169 (GRCm39) Y466N probably damaging Het
Gm10845 T A 14: 80,100,644 (GRCm39) noncoding transcript Het
H2-M5 A G 17: 37,300,034 (GRCm39) F47L possibly damaging Het
H4c9 T C 13: 22,225,276 (GRCm39) probably null Het
Il1rl1 CTTGTTGTTGTTGTTGTTG CTTGTTGTTGTTGTTGTTGTTG 1: 40,481,734 (GRCm39) probably benign Het
Immt A G 6: 71,828,828 (GRCm39) S128G probably benign Het
Klb A T 5: 65,536,398 (GRCm39) D576V probably damaging Het
Lpin1 A T 12: 16,590,980 (GRCm39) N817K possibly damaging Het
Lrrk1 C T 7: 65,944,729 (GRCm39) R627H probably damaging Het
Luzp1 A G 4: 136,269,996 (GRCm39) K740E probably damaging Het
Mapk9 T C 11: 49,773,983 (GRCm39) *382Q probably null Het
Mn1 A G 5: 111,568,900 (GRCm39) S957G possibly damaging Het
Mrgprb8 A T 7: 48,038,412 (GRCm39) M28L probably benign Het
Myo1a A G 10: 127,555,749 (GRCm39) I913V probably benign Het
Nolc1 T A 19: 46,068,528 (GRCm39) probably benign Het
Pde4dip A C 3: 97,624,413 (GRCm39) probably benign Het
Rbpj C T 5: 53,803,390 (GRCm39) probably benign Het
Ric1 T C 19: 29,555,047 (GRCm39) I387T probably benign Het
Ruvbl1 A G 6: 88,450,182 (GRCm39) R58G probably damaging Het
Scarb1 C A 5: 125,374,278 (GRCm39) probably benign Het
Sh3tc1 A T 5: 35,876,458 (GRCm39) probably benign Het
Slc22a23 G A 13: 34,379,462 (GRCm39) T435I probably damaging Het
Slc22a26 A T 19: 7,773,509 (GRCm39) probably benign Het
Taf6l T C 19: 8,750,733 (GRCm39) I114V probably benign Het
Tbc1d8b A G X: 138,613,025 (GRCm39) S284G possibly damaging Het
Tmem131l C T 3: 83,842,122 (GRCm39) probably benign Het
Vmn2r115 C T 17: 23,565,238 (GRCm39) S375F probably benign 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
R1524:2310003L06Rik UTSW 5 88,119,548 (GRCm39) missense probably benign 0.37
R1536:2310003L06Rik UTSW 5 88,118,524 (GRCm39) missense probably benign
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'- TGACCACCACCCAAGCTATGGATG -3'
(R):5'- GCTACAGAAGTTGTGCCAGTTGTTG -3'

Sequencing Primer
(F):5'- ACCCAAGCTATGGATGGTTCTAC -3'
(R):5'- GACTTAGTGGTTCCTACAGGCAC -3'
Posted On 2013-07-30