Incidental Mutation 'R4525:9430097D07Rik'
ID 334394
Institutional Source Beutler Lab
Gene Symbol 9430097D07Rik
Ensembl Gene ENSMUSG00000075405
Gene Name RIKEN cDNA 9430097D07 gene
Synonyms
MMRRC Submission 041767-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R4525 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 32464196-32465696 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 32464388 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124665 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028151] [ENSMUST00000048375] [ENSMUST00000055304] [ENSMUST00000100188] [ENSMUST00000100190] [ENSMUST00000140592]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000028151
SMART Domains Protein: ENSMUSP00000028151
Gene: ENSMUSG00000026810

DomainStartEndE-ValueType
Pfam:DPM2 5 80 4.2e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000048375
SMART Domains Protein: ENSMUSP00000044731
Gene: ENSMUSG00000039157

DomainStartEndE-ValueType
Pfam:NT-C2 6 152 4.8e-32 PFAM
low complexity region 177 194 N/A INTRINSIC
low complexity region 262 273 N/A INTRINSIC
low complexity region 283 309 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000055304
SMART Domains Protein: ENSMUSP00000051282
Gene: ENSMUSG00000046854

DomainStartEndE-ValueType
Pfam:PIP5K 127 393 4.2e-62 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100188
SMART Domains Protein: ENSMUSP00000097763
Gene: ENSMUSG00000046854

DomainStartEndE-ValueType
Pfam:PIP5K 165 358 4.3e-49 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000100190
AA Change: V137A
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128039
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150419
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134204
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136816
Predicted Effect probably benign
Transcript: ENSMUST00000140592
SMART Domains Protein: ENSMUSP00000124665
Gene: ENSMUSG00000026810

DomainStartEndE-ValueType
Pfam:DPM2 5 68 3e-30 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 97% (32/33)
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ampd1 T C 3: 103,002,049 (GRCm39) V510A probably damaging Het
Aoc1 A G 6: 48,883,609 (GRCm39) Y495C probably damaging Het
Asap2 G A 12: 21,279,293 (GRCm39) probably null Het
Cd47 T C 16: 49,688,155 (GRCm39) V25A probably benign Het
Cer1 A G 4: 82,802,906 (GRCm39) F139L possibly damaging Het
Cpne3 G T 4: 19,523,206 (GRCm39) P527H probably damaging Het
Erbin T C 13: 103,993,600 (GRCm39) I347V probably benign Het
Gm17542 T C 10: 58,549,435 (GRCm39) D31G probably null Het
Hivep1 T A 13: 42,309,289 (GRCm39) C510S probably benign Het
Hnrnpk A G 13: 58,541,696 (GRCm39) probably benign Het
Iqcf4 T A 9: 106,447,827 (GRCm39) Q27H possibly damaging Het
Kcna4 C A 2: 107,125,410 (GRCm39) T48K possibly damaging Het
Loxhd1 T A 18: 77,444,608 (GRCm39) C336S probably damaging Het
Ltbp3 A G 19: 5,796,387 (GRCm39) T306A probably benign Het
Oplah G T 15: 76,189,709 (GRCm39) L176M probably damaging Het
Pon1 T C 6: 5,177,412 (GRCm39) probably null Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,133 (GRCm39) probably benign Het
Ryr3 A G 2: 112,483,966 (GRCm39) I3932T probably damaging Het
Shank1 A T 7: 44,004,014 (GRCm39) H1902L possibly damaging Het
Sipa1 T A 19: 5,701,985 (GRCm39) Q947L probably benign Het
Slit2 G T 5: 48,407,215 (GRCm39) C882F probably damaging Het
Speer4a1 A T 5: 26,244,341 (GRCm39) probably null Het
Spta1 A G 1: 174,034,676 (GRCm39) D1035G probably null Het
Tas2r140 T C 6: 133,032,207 (GRCm39) T184A possibly damaging Het
Timm10b A G 7: 105,332,013 (GRCm39) N828S probably benign Het
Tmem161b T C 13: 84,405,921 (GRCm39) I50T probably benign Het
Tnpo3 T C 6: 29,561,397 (GRCm39) N628D probably benign Het
Tnrc6a A G 7: 122,779,005 (GRCm39) T102A probably benign Het
Vmn2r70 A T 7: 85,208,787 (GRCm39) N563K probably damaging Het
Other mutations in 9430097D07Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02214:9430097D07Rik APN 2 32,464,736 (GRCm39) unclassified probably benign
R0356:9430097D07Rik UTSW 2 32,464,418 (GRCm39) unclassified probably benign
R1776:9430097D07Rik UTSW 2 32,464,767 (GRCm39) unclassified probably benign
R4886:9430097D07Rik UTSW 2 32,464,630 (GRCm39) unclassified probably benign
R5010:9430097D07Rik UTSW 2 32,464,440 (GRCm39) unclassified probably benign
R5613:9430097D07Rik UTSW 2 32,465,346 (GRCm39) unclassified probably benign
R7059:9430097D07Rik UTSW 2 32,464,509 (GRCm39) unclassified probably benign
R7919:9430097D07Rik UTSW 2 32,464,461 (GRCm39) missense unknown
R7977:9430097D07Rik UTSW 2 32,464,317 (GRCm39) missense unknown
R7987:9430097D07Rik UTSW 2 32,464,317 (GRCm39) missense unknown
R9287:9430097D07Rik UTSW 2 32,465,178 (GRCm39) unclassified probably benign
R9718:9430097D07Rik UTSW 2 32,465,247 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- GGTTCCTTCATCCTGATGGC -3'
(R):5'- TGATAGTCCCTAGCACGCAGAG -3'

Sequencing Primer
(F):5'- GGTAATGGATCCCTTTAATCCCGG -3'
(R):5'- CAGAGCCTTGGGACAGTG -3'
Posted On 2015-08-18