Incidental Mutation 'R5545:2410004B18Rik'
ID 436180
Institutional Source Beutler Lab
Gene Symbol 2410004B18Rik
Ensembl Gene ENSMUSG00000036873
Gene Name RIKEN cDNA 2410004B18 gene
Synonyms
MMRRC Submission 043103-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.430) question?
Stock # R5545 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 145643769-145650584 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 145644853 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000029842] [ENSMUST00000039571] [ENSMUST00000134575]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000029842
SMART Domains Protein: ENSMUSP00000029842
Gene: ENSMUSG00000028191

DomainStartEndE-ValueType
Pfam:CARD 18 102 8e-20 PFAM
low complexity region 192 209 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000039571
SMART Domains Protein: ENSMUSP00000045376
Gene: ENSMUSG00000036873

DomainStartEndE-ValueType
Pfam:DUF4660 20 125 2.8e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134575
SMART Domains Protein: ENSMUSP00000119149
Gene: ENSMUSG00000036873

DomainStartEndE-ValueType
Pfam:DUF4660 19 97 2.4e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138876
Predicted Effect probably benign
Transcript: ENSMUST00000152783
SMART Domains Protein: ENSMUSP00000118224
Gene: ENSMUSG00000036873

DomainStartEndE-ValueType
Pfam:DUF4660 1 53 6.3e-24 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000188034
Predicted Effect probably null
Transcript: ENSMUST00000188034
Predicted Effect probably null
Transcript: ENSMUST00000190472
Predicted Effect probably null
Transcript: ENSMUST00000190472
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189656
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot5 G A 12: 84,116,380 (GRCm39) R47Q possibly damaging Het
Akr1c19 A T 13: 4,292,594 (GRCm39) Y205F probably benign Het
Cdh6 T C 15: 13,041,235 (GRCm39) Y564C probably damaging Het
Cngb1 A G 8: 95,978,801 (GRCm39) S551P Het
Cyp20a1 T C 1: 60,415,241 (GRCm39) I289T possibly damaging Het
Herc6 A T 6: 57,634,992 (GRCm39) probably null Het
Ifnar2 G A 16: 91,181,913 (GRCm39) probably null Het
Kcnd2 A G 6: 21,217,018 (GRCm39) T241A probably damaging Het
Nfatc2ip T A 7: 125,989,642 (GRCm39) E247D possibly damaging Het
Or2k2 T G 4: 58,785,585 (GRCm39) I46L probably benign Het
Or2o1 G A 11: 49,051,453 (GRCm39) C204Y probably damaging Het
Pate10 A G 9: 35,652,940 (GRCm39) I61V probably benign Het
Plekhg2 T C 7: 28,061,886 (GRCm39) E638G probably damaging Het
Plin1 T C 7: 79,376,257 (GRCm39) T160A probably benign Het
Prox1 T A 1: 189,879,339 (GRCm39) N613I probably damaging Het
Ptpn13 A G 5: 103,709,830 (GRCm39) S1498G probably damaging Het
Ralbp1 C T 17: 66,157,099 (GRCm39) R598Q possibly damaging Het
Robo2 A C 16: 73,758,635 (GRCm39) V712G probably damaging Het
Rsl1d1 A G 16: 11,017,514 (GRCm39) F151L probably damaging Het
Scrn3 T A 2: 73,166,125 (GRCm39) I386N possibly damaging Het
Sorl1 T A 9: 41,902,921 (GRCm39) Y1591F probably benign Het
Tbr1 T G 2: 61,637,720 (GRCm39) V93G possibly damaging Het
Tmem229b A G 12: 79,011,583 (GRCm39) I116T probably damaging Het
Ttn T C 2: 76,594,720 (GRCm39) Q12115R possibly damaging Het
Ube3a C T 7: 58,921,772 (GRCm39) T48M probably damaging Het
Vnn3 A G 10: 23,742,992 (GRCm39) I401V probably benign Het
Wdr90 C T 17: 26,064,830 (GRCm39) R1744H probably damaging Het
Zc3h7a T C 16: 10,966,315 (GRCm39) D604G possibly damaging Het
Other mutations in 2410004B18Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0243:2410004B18Rik UTSW 3 145,643,833 (GRCm39) missense probably damaging 1.00
R1960:2410004B18Rik UTSW 3 145,643,976 (GRCm39) missense probably damaging 1.00
R4155:2410004B18Rik UTSW 3 145,644,018 (GRCm39) missense possibly damaging 0.70
R4156:2410004B18Rik UTSW 3 145,644,018 (GRCm39) missense possibly damaging 0.70
R4931:2410004B18Rik UTSW 3 145,643,875 (GRCm39) missense probably benign 0.00
R6958:2410004B18Rik UTSW 3 145,649,558 (GRCm39) missense probably benign 0.24
R7862:2410004B18Rik UTSW 3 145,649,624 (GRCm39) makesense probably null
R9047:2410004B18Rik UTSW 3 145,644,848 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ATCTGGAAGTCCAACTGCGTG -3'
(R):5'- AGAGACCTCTGAGACTACTTTCAG -3'

Sequencing Primer
(F):5'- GTGCCGCCCCCAGAGAC -3'
(R):5'- TCAGTCCTAGCACTGAGATACTGAG -3'
Posted On 2016-10-24