Incidental Mutation 'R1019:6430548M08Rik'
ID 96760
Institutional Source Beutler Lab
Gene Symbol 6430548M08Rik
Ensembl Gene ENSMUSG00000031824
Gene Name RIKEN cDNA 6430548M08 gene
Synonyms
MMRRC Submission 039123-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # R1019 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 120840891-120892045 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 120872209 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glutamine at position 46 (E46Q)
Ref Sequence ENSEMBL: ENSMUSP00000117269 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034281] [ENSMUST00000108948] [ENSMUST00000108950] [ENSMUST00000108951] [ENSMUST00000127664] [ENSMUST00000132229] [ENSMUST00000153725]
AlphaFold Q8R0A7
Predicted Effect possibly damaging
Transcript: ENSMUST00000034281
AA Change: E46Q

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000034281
Gene: ENSMUSG00000031824
AA Change: E46Q

DomainStartEndE-ValueType
low complexity region 39 54 N/A INTRINSIC
low complexity region 68 87 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000108948
AA Change: E46Q

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000104576
Gene: ENSMUSG00000031824
AA Change: E46Q

DomainStartEndE-ValueType
low complexity region 39 54 N/A INTRINSIC
low complexity region 68 87 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000108950
AA Change: E46Q

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000104578
Gene: ENSMUSG00000031824
AA Change: E46Q

DomainStartEndE-ValueType
low complexity region 39 54 N/A INTRINSIC
low complexity region 68 87 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000108951
AA Change: E46Q

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000104579
Gene: ENSMUSG00000031824
AA Change: E46Q

DomainStartEndE-ValueType
low complexity region 39 54 N/A INTRINSIC
low complexity region 68 87 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000132229
AA Change: E46Q

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000117269
Gene: ENSMUSG00000031824
AA Change: E46Q

DomainStartEndE-ValueType
low complexity region 39 54 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000153725
AA Change: E46Q

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000114976
Gene: ENSMUSG00000031824
AA Change: E46Q

DomainStartEndE-ValueType
low complexity region 39 54 N/A INTRINSIC
low complexity region 68 87 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212474
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130401M01Rik A G 15: 57,885,823 (GRCm39) I353T possibly damaging Het
A830031A19Rik G A 11: 23,999,438 (GRCm39) R53C unknown Het
Abcc6 T C 7: 45,663,531 (GRCm39) R378G possibly damaging Het
Adam10 A G 9: 70,668,922 (GRCm39) N413D probably benign Het
Csmd2 T C 4: 128,415,807 (GRCm39) V2712A probably benign Het
Dnhd1 T C 7: 105,358,378 (GRCm39) F3289S probably damaging Het
Hectd1 A G 12: 51,795,440 (GRCm39) S2330P probably damaging Het
Ift74 C T 4: 94,524,072 (GRCm39) A196V probably benign Het
Kifc1 G A 17: 34,103,685 (GRCm39) R195C probably benign Het
Lipo2 A T 19: 33,708,257 (GRCm39) C252* probably null Het
Mrgpra1 C G 7: 46,984,833 (GRCm39) C282S probably benign Het
Nfatc2 A T 2: 168,346,799 (GRCm39) L765Q probably damaging Het
Or13a26 C T 7: 140,284,407 (GRCm39) P81L probably damaging Het
Or1l8 A G 2: 36,817,764 (GRCm39) F121L probably benign Het
Otof C A 5: 30,528,087 (GRCm39) V1924L probably damaging Het
Pdhb T C 14: 8,171,442 (GRCm38) Q62R probably benign Het
Plbd1 A G 6: 136,628,903 (GRCm39) V55A probably benign Het
Poteg T A 8: 27,937,852 (GRCm39) F3I possibly damaging Het
Rptor A G 11: 119,734,569 (GRCm39) D46G probably damaging Het
Slc18a1 C T 8: 69,527,685 (GRCm39) probably null Het
Slc37a1 A G 17: 31,534,568 (GRCm39) N80S probably benign Het
Slc6a18 T A 13: 73,825,998 (GRCm39) R17S probably damaging Het
Spata31d1a A G 13: 59,850,182 (GRCm39) S649P probably benign Het
Syngr3 G T 17: 24,906,534 (GRCm39) Q94K possibly damaging Het
Tgm2 C A 2: 157,966,074 (GRCm39) E527* probably null Het
Tnc T A 4: 63,880,319 (GRCm39) T1952S probably damaging Het
Ubqln3 C T 7: 103,790,593 (GRCm39) R499Q probably benign Het
Uck1 A G 2: 32,146,205 (GRCm39) V230A possibly damaging Het
Unc13d G A 11: 115,958,900 (GRCm39) R754C probably benign Het
Zfp708 C T 13: 67,222,162 (GRCm39) A73T probably benign Het
Other mutations in 6430548M08Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02861:6430548M08Rik APN 8 120,876,863 (GRCm39) missense probably damaging 1.00
R0137:6430548M08Rik UTSW 8 120,878,115 (GRCm39) missense possibly damaging 0.87
R1140:6430548M08Rik UTSW 8 120,876,874 (GRCm39) missense probably damaging 1.00
R2026:6430548M08Rik UTSW 8 120,880,205 (GRCm39) missense probably benign 0.00
R2209:6430548M08Rik UTSW 8 120,884,227 (GRCm39) missense possibly damaging 0.73
R2508:6430548M08Rik UTSW 8 120,872,132 (GRCm39) missense probably benign 0.03
R2884:6430548M08Rik UTSW 8 120,872,250 (GRCm39) missense possibly damaging 0.94
R3724:6430548M08Rik UTSW 8 120,876,099 (GRCm39) missense probably damaging 1.00
R3944:6430548M08Rik UTSW 8 120,879,241 (GRCm39) missense probably damaging 1.00
R4584:6430548M08Rik UTSW 8 120,886,756 (GRCm39) missense probably damaging 1.00
R4668:6430548M08Rik UTSW 8 120,887,153 (GRCm39) critical splice donor site probably null
R5883:6430548M08Rik UTSW 8 120,872,380 (GRCm39) missense possibly damaging 0.68
R6621:6430548M08Rik UTSW 8 120,872,162 (GRCm39) missense possibly damaging 0.60
R6919:6430548M08Rik UTSW 8 120,872,221 (GRCm39) missense probably damaging 1.00
R7023:6430548M08Rik UTSW 8 120,872,096 (GRCm39) missense probably damaging 1.00
R7035:6430548M08Rik UTSW 8 120,879,225 (GRCm39) missense probably damaging 1.00
R7218:6430548M08Rik UTSW 8 120,872,322 (GRCm39) missense probably damaging 1.00
R7343:6430548M08Rik UTSW 8 120,872,327 (GRCm39) missense probably benign
R7424:6430548M08Rik UTSW 8 120,872,284 (GRCm39) missense probably damaging 1.00
R7711:6430548M08Rik UTSW 8 120,886,723 (GRCm39) missense possibly damaging 0.91
R8511:6430548M08Rik UTSW 8 120,879,301 (GRCm39) missense probably benign 0.29
R9009:6430548M08Rik UTSW 8 120,878,279 (GRCm39) intron probably benign
R9489:6430548M08Rik UTSW 8 120,872,380 (GRCm39) missense possibly damaging 0.68
R9605:6430548M08Rik UTSW 8 120,872,380 (GRCm39) missense possibly damaging 0.68
R9606:6430548M08Rik UTSW 8 120,880,706 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTCCATTGCAGACGCCACAGG -3'
(R):5'- CGCATAAACTCTCGAAGTGCCAGG -3'

Sequencing Primer
(F):5'- TCTGAGCTGCAAGAGACTTC -3'
(R):5'- TCGAAGTGCCAGGGTCTC -3'
Posted On 2014-01-05