Incidental Mutation 'R3748:2310003L06Rik'
ID 309912
Institutional Source Beutler Lab
Gene Symbol 2310003L06Rik
Ensembl Gene ENSMUSG00000007457
Gene Name RIKEN cDNA 2310003L06 gene
Synonyms
MMRRC Submission 040733-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R3748 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 88117318-88120729 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 88112422 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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (36/36)
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh C A 5: 77,036,501 (GRCm39) E347* probably null Het
Abca13 T C 11: 9,266,119 (GRCm39) probably benign Het
Acaca A G 11: 84,202,235 (GRCm39) probably null Het
Adam2 C T 14: 66,297,361 (GRCm39) V182I probably benign Het
Adam26b A C 8: 43,974,234 (GRCm39) V256G probably benign Het
Cfap68 A G 9: 50,677,050 (GRCm39) C14R probably benign Het
Cfhr1 C A 1: 139,485,372 (GRCm39) probably null Het
Clcn1 T A 6: 42,276,849 (GRCm39) Y393N probably damaging Het
Cmss1 T C 16: 57,122,635 (GRCm39) E253G probably damaging Het
Csmd1 T G 8: 15,956,071 (GRCm39) N3379H probably damaging Het
Cx3cr1 T C 9: 119,881,132 (GRCm39) H90R probably damaging Het
Cyp4v3 G A 8: 45,768,745 (GRCm39) R272* probably null Het
Daam1 C A 12: 72,017,940 (GRCm39) D716E probably damaging Het
Dnah8 A T 17: 31,003,148 (GRCm39) K3616* probably null Het
Fam221a A G 6: 49,349,630 (GRCm39) D2G probably damaging Het
Golgb1 G C 16: 36,739,274 (GRCm39) D2538H probably benign Het
Hoxc12 A G 15: 102,846,813 (GRCm39) E235G probably damaging Het
Lrba T G 3: 86,283,260 (GRCm39) L1858R probably damaging Het
Mfsd4b4 A G 10: 39,770,132 (GRCm39) probably benign Het
Mroh2b G A 15: 4,981,728 (GRCm39) W1513* probably null Het
Nrp1 T C 8: 129,184,461 (GRCm39) W369R probably damaging Het
Nuf2 T A 1: 169,352,945 (GRCm39) N20I probably damaging Het
Or13a19 T C 7: 139,903,041 (GRCm39) L143P possibly damaging Het
Pkdrej T A 15: 85,705,278 (GRCm39) K219N probably damaging Het
Primpol A T 8: 47,052,848 (GRCm39) D154E probably benign Het
Slk T G 19: 47,608,248 (GRCm39) D400E possibly damaging Het
Tdh T C 14: 63,733,442 (GRCm39) T149A probably benign Het
Tnip3 C T 6: 65,591,747 (GRCm39) L249F probably damaging Het
Tpcn2 T C 7: 144,809,260 (GRCm39) H682R probably damaging Het
Upf1 G T 8: 70,786,000 (GRCm39) N975K possibly damaging Het
Vmn1r39 T C 6: 66,781,854 (GRCm39) N155D probably benign Het
Vmn2r27 T C 6: 124,207,351 (GRCm39) I97V probably benign Het
Zfhx4 G A 3: 5,308,225 (GRCm39) E484K possibly damaging Het
Zswim4 G A 8: 84,938,676 (GRCm39) P1069S possibly damaging 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
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
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'- GGTCTCAGAAACTGAAGCAAAC -3'
(R):5'- TCCTACAGGCACTTGGGTTG -3'

Sequencing Primer
(F):5'- GATATGACCACCACCCAAGCTATG -3'
(R):5'- ACTGACAGTTGTAGTTACTAATGTGG -3'
Posted On 2015-04-17