Incidental Mutation 'R4156:2410004B18Rik'
ID 315530
Institutional Source Beutler Lab
Gene Symbol 2410004B18Rik
Ensembl Gene ENSMUSG00000036873
Gene Name RIKEN cDNA 2410004B18 gene
Synonyms
MMRRC Submission 040862-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.387) question?
Stock # R4156 (G1)
Quality Score 186
Status Validated
Chromosome 3
Chromosomal Location 145643769-145650584 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 145644018 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 69 (F69I)
Ref Sequence ENSEMBL: ENSMUSP00000119149 (fasta)
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 benign
Transcript: ENSMUST00000039571
AA Change: F69I

PolyPhen 2 Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000045376
Gene: ENSMUSG00000036873
AA Change: F69I

DomainStartEndE-ValueType
Pfam:DUF4660 20 125 2.8e-42 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000134575
AA Change: F69I

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000119149
Gene: ENSMUSG00000036873
AA Change: F69I

DomainStartEndE-ValueType
Pfam:DUF4660 19 97 2.4e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138876
Predicted Effect unknown
Transcript: ENSMUST00000152783
AA Change: F25I
SMART Domains Protein: ENSMUSP00000118224
Gene: ENSMUSG00000036873
AA Change: F25I

DomainStartEndE-ValueType
Pfam:DUF4660 1 53 6.3e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000188034
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189656
Predicted Effect probably benign
Transcript: ENSMUST00000190472
Meta Mutation Damage Score 0.5966 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 96% (44/46)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot12 C T 13: 91,932,882 (GRCm39) L552F probably benign Het
Aff4 T A 11: 53,301,726 (GRCm39) probably benign Het
Aldh18a1 A G 19: 40,539,725 (GRCm39) V750A probably damaging Het
Anapc1 A G 2: 128,469,149 (GRCm39) probably benign Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Bcl11b A T 12: 107,883,684 (GRCm39) probably null Het
Ccpg1 C A 9: 72,919,449 (GRCm39) Q355K probably benign Het
Cdc42bpb G A 12: 111,260,573 (GRCm39) P1702S probably benign Het
Ddx20 G T 3: 105,586,249 (GRCm39) Q699K probably benign Het
Ecd A G 14: 20,374,632 (GRCm39) S503P probably damaging Het
Etaa1 C T 11: 17,890,281 (GRCm39) R860Q probably damaging Het
Ffar2 T A 7: 30,519,093 (GRCm39) Y149F probably damaging Het
Gamt T A 10: 80,096,558 (GRCm39) R60* probably null Het
Gm6871 T C 7: 41,195,510 (GRCm39) N302S probably damaging Het
Hps3 A G 3: 20,083,393 (GRCm39) S135P probably damaging Het
Ifi203 T A 1: 173,764,106 (GRCm39) N122I probably damaging Het
Leng9 T C 7: 4,152,433 (GRCm39) D81G possibly damaging Het
Lrrc23 T A 6: 124,747,804 (GRCm39) K262* probably null Het
Morc2b T A 17: 33,357,401 (GRCm39) T124S probably benign Het
Mroh1 G A 15: 76,286,326 (GRCm39) probably null Het
Naxe T C 3: 87,964,011 (GRCm39) K240R probably benign Het
Ncan C A 8: 70,562,727 (GRCm39) E510D possibly damaging Het
Ndufs4 A T 13: 114,444,390 (GRCm39) S129R probably benign Het
Oog2 A G 4: 143,920,523 (GRCm39) probably benign Het
Or5h18 A T 16: 58,847,931 (GRCm39) F113Y probably damaging Het
Or8h8 T C 2: 86,753,222 (GRCm39) Y218C probably damaging Het
Or8j3c C A 2: 86,253,544 (GRCm39) V159L possibly damaging Het
Papola G A 12: 105,767,010 (GRCm39) probably null Het
Pasd1 T C X: 70,983,161 (GRCm39) C378R possibly damaging Het
Plec A G 15: 76,056,453 (GRCm39) S4517P probably damaging Het
Rpap1 C T 2: 119,604,660 (GRCm39) R416H probably damaging Het
Rpl31-ps17 C T 12: 54,748,397 (GRCm39) noncoding transcript Het
Rxfp2 G A 5: 149,975,020 (GRCm39) V210I probably benign Het
Ryr3 T C 2: 112,484,020 (GRCm39) D3909G probably damaging Het
Spata31d1a T A 13: 59,852,861 (GRCm39) K76N possibly damaging Het
Srgn A G 10: 62,333,613 (GRCm39) F55L possibly damaging Het
Tmem54 G A 4: 129,004,504 (GRCm39) R151Q probably damaging Het
Tns1 T A 1: 73,953,790 (GRCm39) N1848Y probably damaging Het
Trim33 G T 3: 103,217,630 (GRCm39) V192L possibly damaging Het
Trpm5 G T 7: 142,642,792 (GRCm39) L52I probably benign Het
Uaca A G 9: 60,779,035 (GRCm39) S1141G probably benign Het
Vmn1r63 T C 7: 5,806,531 (GRCm39) T34A possibly damaging Het
Vmn2r50 T C 7: 9,774,309 (GRCm39) K529R probably benign Het
Vmn2r9 T C 5: 108,995,743 (GRCm39) T302A possibly damaging Het
Ylpm1 T C 12: 85,104,177 (GRCm39) probably benign Het
Zfp410 G A 12: 84,374,206 (GRCm39) R181H probably 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
R4931:2410004B18Rik UTSW 3 145,643,875 (GRCm39) missense probably benign 0.00
R5545:2410004B18Rik UTSW 3 145,644,853 (GRCm39) critical splice donor site probably null
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'- AGAAGGACCCGTTGAGCTACTTC -3'
(R):5'- ACTTCGGCGTCAAAGGGAAG -3'

Sequencing Primer
(F):5'- GAGCTACTTCGCGGCTTAC -3'
(R):5'- GAGTCACCACCGTTAGTCGTC -3'
Posted On 2015-05-14