Incidental Mutation 'R4487:2310030G06Rik'
ID 331659
Institutional Source Beutler Lab
Gene Symbol 2310030G06Rik
Ensembl Gene ENSMUSG00000032062
Gene Name RIKEN cDNA 2310030G06 gene
Synonyms
MMRRC Submission 041743-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R4487 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 50650991-50657827 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 50651931 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 99 (L99P)
Ref Sequence ENSEMBL: ENSMUSP00000034564 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034564] [ENSMUST00000117093] [ENSMUST00000121634]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000034564
AA Change: L99P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000034564
Gene: ENSMUSG00000032062
AA Change: L99P

DomainStartEndE-ValueType
Pfam:DUF4578 15 140 1.7e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117093
SMART Domains Protein: ENSMUSP00000112654
Gene: ENSMUSG00000032064

DomainStartEndE-ValueType
Pfam:CH 22 88 3.2e-9 PFAM
Pfam:CAMSAP_CH 30 62 1.2e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121634
SMART Domains Protein: ENSMUSP00000113089
Gene: ENSMUSG00000032064

DomainStartEndE-ValueType
CH 21 150 5.48e-8 SMART
low complexity region 177 189 N/A INTRINSIC
low complexity region 236 253 N/A INTRINSIC
coiled coil region 305 337 N/A INTRINSIC
coiled coil region 358 491 N/A INTRINSIC
Pfam:DIX 625 707 5.3e-37 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 100% (41/41)
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 A G 15: 91,062,486 (GRCm39) V484A probably damaging Het
Adgrv1 A G 13: 81,588,185 (GRCm39) I4467T probably damaging Het
Ash1l T A 3: 88,892,622 (GRCm39) D1500E possibly damaging Het
C1ql2 A T 1: 120,269,409 (GRCm39) Y188F possibly damaging Het
Cnga2 T A X: 71,049,733 (GRCm39) F133I possibly damaging Het
Crybg2 T C 4: 133,801,512 (GRCm39) S891P probably benign Het
Hao2 T A 3: 98,789,341 (GRCm39) I116F probably damaging Het
Htr1b A T 9: 81,513,592 (GRCm39) D338E probably benign Het
Kalrn C T 16: 33,810,180 (GRCm39) D2525N possibly damaging Het
Kif9 A G 9: 110,323,552 (GRCm39) E225G probably null Het
Krt76 T C 15: 101,798,917 (GRCm39) K256R possibly damaging Het
Mapk4 T C 18: 74,064,046 (GRCm39) D392G probably damaging Het
Mthfr A G 4: 148,135,884 (GRCm39) K278R probably benign Het
Mup4 T A 4: 59,960,547 (GRCm39) E18V probably damaging Het
Nepro A G 16: 44,556,089 (GRCm39) K416E probably damaging Het
Ngf G A 3: 102,428,015 (GRCm39) D255N probably damaging Het
Nmu A G 5: 76,491,909 (GRCm39) probably null Het
Nt5m A G 11: 59,739,173 (GRCm39) Y73C probably damaging Het
Oaz3 A T 3: 94,342,437 (GRCm39) probably null Het
Pgap1 A G 1: 54,567,751 (GRCm39) S365P probably benign Het
Plxna2 C T 1: 194,431,625 (GRCm39) S538F probably damaging Het
Pus7l A G 15: 94,429,498 (GRCm39) I440T possibly damaging Het
Raph1 C T 1: 60,542,028 (GRCm39) S362N possibly damaging Het
Rftn2 A G 1: 55,241,311 (GRCm39) Y330H possibly damaging Het
Rhot2 G A 17: 26,058,467 (GRCm39) H580Y probably benign Het
Rnase2a A T 14: 51,493,302 (GRCm39) M21K unknown Het
Rusf1 T C 7: 127,887,530 (GRCm39) D24G probably damaging Het
Smchd1 T C 17: 71,714,230 (GRCm39) T878A probably benign Het
Snx1 A T 9: 65,996,877 (GRCm39) V459E possibly damaging Het
Suz12 A G 11: 79,922,939 (GRCm39) T694A probably benign Het
Tg G A 15: 66,543,245 (GRCm39) C53Y probably damaging Het
Tor1aip1 G T 1: 155,882,870 (GRCm39) T326K probably damaging Het
Vmn1r61 C A 7: 5,613,924 (GRCm39) C130F possibly damaging Het
Xlr5b T C X: 72,201,504 (GRCm39) probably null Het
Other mutations in 2310030G06Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00672:2310030G06Rik APN 9 50,657,736 (GRCm39) unclassified probably benign
R1465:2310030G06Rik UTSW 9 50,651,866 (GRCm39) missense probably damaging 1.00
R1465:2310030G06Rik UTSW 9 50,651,866 (GRCm39) missense probably damaging 1.00
R1479:2310030G06Rik UTSW 9 50,652,601 (GRCm39) missense possibly damaging 0.85
R1572:2310030G06Rik UTSW 9 50,651,973 (GRCm39) missense probably damaging 0.99
R4762:2310030G06Rik UTSW 9 50,651,967 (GRCm39) missense probably damaging 1.00
R4839:2310030G06Rik UTSW 9 50,652,023 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TAAAACATGGCCATTGTCCTTG -3'
(R):5'- GGACCTCAGTGTAAAAGGCC -3'

Sequencing Primer
(F):5'- CAGTAGGTTATTCCCACAGGATG -3'
(R):5'- CTCAGTGTAAAAGGCCCTGCATG -3'
Posted On 2015-07-21