Incidental Mutation 'R2884:6430548M08Rik'
ID 260968
Institutional Source Beutler Lab
Gene Symbol 6430548M08Rik
Ensembl Gene ENSMUSG00000031824
Gene Name RIKEN cDNA 6430548M08 gene
Synonyms
MMRRC Submission 040472-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # R2884 (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 T at 120872250 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 59 (E59D)
Ref Sequence ENSEMBL: ENSMUSP00000117269 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034281] [ENSMUST00000108948] [ENSMUST00000108950] [ENSMUST00000108951] [ENSMUST00000127664] [ENSMUST00000132229] [ENSMUST00000153725]
AlphaFold Q8R0A7
Predicted Effect probably benign
Transcript: ENSMUST00000034281
AA Change: E59D

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000034281
Gene: ENSMUSG00000031824
AA Change: E59D

DomainStartEndE-ValueType
low complexity region 39 54 N/A INTRINSIC
low complexity region 68 87 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108948
AA Change: E59D

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000104576
Gene: ENSMUSG00000031824
AA Change: E59D

DomainStartEndE-ValueType
low complexity region 39 54 N/A INTRINSIC
low complexity region 68 87 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108950
AA Change: E59D

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000104578
Gene: ENSMUSG00000031824
AA Change: E59D

DomainStartEndE-ValueType
low complexity region 39 54 N/A INTRINSIC
low complexity region 68 87 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108951
AA Change: E59D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000104579
Gene: ENSMUSG00000031824
AA Change: E59D

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 possibly damaging
Transcript: ENSMUST00000132229
AA Change: E59D

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000117269
Gene: ENSMUSG00000031824
AA Change: E59D

DomainStartEndE-ValueType
low complexity region 39 54 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000153725
AA Change: E59D

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000114976
Gene: ENSMUSG00000031824
AA Change: E59D

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: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap27 T C 11: 103,251,669 (GRCm39) probably null Het
BC061237 A G 14: 44,738,627 (GRCm39) R9G possibly damaging Het
Brsk1 A G 7: 4,694,122 (GRCm39) probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Cspg4b G T 13: 113,505,725 (GRCm39) A2285S probably benign Het
Cspg4b A T 13: 113,457,216 (GRCm39) Q1087H probably damaging Het
Dnajb5 A T 4: 42,957,355 (GRCm39) D284V probably damaging Het
Dnmt3a A G 12: 3,946,132 (GRCm39) D329G probably damaging Het
Ecd C T 14: 20,370,841 (GRCm39) G626D probably damaging Het
Exoc3l4 A G 12: 111,394,956 (GRCm39) D551G possibly damaging Het
Fam227b A T 2: 125,942,846 (GRCm39) I317N probably benign Het
Fam3c G A 6: 22,329,581 (GRCm39) R49C probably damaging Het
Fcrl5 A G 3: 87,364,698 (GRCm39) Y566C probably damaging Het
Fras1 A G 5: 96,848,127 (GRCm39) N1779S probably benign Het
Gm19965 T A 1: 116,749,313 (GRCm39) N331K probably benign Het
Grm7 G T 6: 110,623,309 (GRCm39) V161F probably damaging Het
H2ac8 A G 13: 23,755,047 (GRCm39) I79T probably damaging Het
H2-DMa A G 17: 34,356,121 (GRCm39) N41S probably damaging Het
Habp4 A T 13: 64,330,080 (GRCm39) R328S probably benign Het
Hexb C T 13: 97,320,208 (GRCm39) G272D probably damaging Het
Lilrb4a A T 10: 51,367,709 (GRCm39) N84Y probably benign Het
Mtnr1a A G 8: 45,540,305 (GRCm39) T89A probably benign Het
Myh13 T A 11: 67,228,469 (GRCm39) N336K probably benign Het
Naca T C 10: 127,877,547 (GRCm39) probably benign Het
Naif1 C T 2: 32,344,887 (GRCm39) P197L probably benign Het
Nprl3 A G 11: 32,198,163 (GRCm39) L179P probably damaging Het
Nup93 A G 8: 95,030,266 (GRCm39) Y375C probably damaging Het
Or52b4 A G 7: 102,184,439 (GRCm39) I162V probably benign Het
Pcdha12 G A 18: 37,153,757 (GRCm39) D159N probably damaging Het
Plekhs1 G A 19: 56,459,258 (GRCm39) G39R probably benign Het
Ppp4r3a T C 12: 101,034,936 (GRCm39) E53G probably damaging Het
Prss48 A T 3: 85,904,562 (GRCm39) M212K probably benign Het
Pth A T 7: 112,985,235 (GRCm39) L46Q probably damaging Het
Rin2 A T 2: 145,702,911 (GRCm39) T536S probably benign Het
Setx T G 2: 29,038,637 (GRCm39) C1707W probably damaging Het
Stau2 A T 1: 16,301,290 (GRCm39) F519Y possibly damaging Het
Syne2 T G 12: 76,010,533 (GRCm39) V2481G probably benign Het
Tpte C T 8: 22,825,439 (GRCm39) Q331* probably null Het
Ttn G T 2: 76,730,596 (GRCm39) probably benign Het
Utrn A T 10: 12,615,105 (GRCm39) probably null Het
Vmn2r82 A G 10: 79,232,082 (GRCm39) I694V probably benign Het
Vmn2r88 G A 14: 51,651,391 (GRCm39) C235Y probably damaging Het
Xrn2 T A 2: 146,889,576 (GRCm39) V653E probably damaging Het
Znrf3 A T 11: 5,239,693 (GRCm39) D58E probably damaging 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
R1019:6430548M08Rik UTSW 8 120,872,209 (GRCm39) missense probably damaging 0.98
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
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'- TTCAGGAAGCTGCTCCTCAG -3'
(R):5'- TACCTTCCATTCACAGAGTCTG -3'

Sequencing Primer
(F):5'- ATCCTGTTTGGCAGCCCAG -3'
(R):5'- CAGAGTCTGTTCATCCCACAG -3'
Posted On 2015-01-23