Incidental Mutation 'R6614:2810004N23Rik'
ID 523840
Institutional Source Beutler Lab
Gene Symbol 2810004N23Rik
Ensembl Gene ENSMUSG00000031984
Gene Name RIKEN cDNA 2810004N23 gene
Synonyms GtAyu21-55, Ayu21-55, Gt(Ayu21)55Imeg
MMRRC Submission 044737-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.717) question?
Stock # R6614 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 125566094-125589768 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 125587986 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125323 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034465] [ENSMUST00000034466] [ENSMUST00000161986]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000034465
AA Change: Q38L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000034465
Gene: ENSMUSG00000031984
AA Change: Q38L

DomainStartEndE-ValueType
low complexity region 39 49 N/A INTRINSIC
Pfam:DUF4602 119 243 1e-32 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000034466
SMART Domains Protein: ENSMUSP00000034466
Gene: ENSMUSG00000031985

DomainStartEndE-ValueType
low complexity region 5 20 N/A INTRINSIC
SCOP:d1dbha1 27 146 6e-3 SMART
PlsC 155 284 8.3e-21 SMART
Blast:PlsC 308 336 1e-6 BLAST
low complexity region 638 652 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161868
Predicted Effect probably null
Transcript: ENSMUST00000161986
SMART Domains Protein: ENSMUSP00000125323
Gene: ENSMUSG00000031985

DomainStartEndE-ValueType
low complexity region 5 20 N/A INTRINSIC
PlsC 145 274 8.3e-21 SMART
Blast:PlsC 298 326 2e-6 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211971
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212808
Meta Mutation Damage Score 0.0884 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.3%
Validation Efficiency 98% (46/47)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,244,371 (GRCm39) N2078I probably benign Het
Abcc2 A G 19: 43,807,800 (GRCm39) I814V probably benign Het
Adamts4 A G 1: 171,084,193 (GRCm39) R557G probably benign Het
Bltp3a T A 17: 28,095,899 (GRCm39) I70N probably benign Het
Bysl A T 17: 47,912,767 (GRCm39) L341Q probably damaging Het
Csmd1 C T 8: 17,266,803 (GRCm39) G41D probably damaging Het
Dnah11 T C 12: 117,850,411 (GRCm39) D4221G possibly damaging Het
Dnah7c C A 1: 46,688,500 (GRCm39) T1890K probably benign Het
Dnah7c A G 1: 46,688,511 (GRCm39) S1894G probably benign Het
Dnajc21 A G 15: 10,470,349 (GRCm39) probably null Het
Elavl1 C A 8: 4,339,818 (GRCm39) A255S probably damaging Het
Filip1 C T 9: 79,723,121 (GRCm39) G1166D probably damaging Het
Gnptg T C 17: 25,454,235 (GRCm39) Y184C probably damaging Het
Ifit3b A T 19: 34,588,919 (GRCm39) S32C probably benign Het
Kcnh7 T G 2: 62,607,940 (GRCm39) Y547S probably damaging Het
Lima1 G A 15: 99,681,461 (GRCm39) A243V probably damaging Het
Mast3 T A 8: 71,234,610 (GRCm39) I67F possibly damaging Het
Ncor1 A C 11: 62,221,645 (GRCm39) M1283R probably benign Het
Ndufv1 G A 19: 4,058,749 (GRCm39) T253I probably benign Het
Neurog1 G T 13: 56,399,637 (GRCm39) Q37K probably benign Het
Nol4 T G 18: 23,053,913 (GRCm39) K200Q probably damaging Het
Obscn T C 11: 58,903,627 (GRCm39) H7599R probably benign Het
Oog4 A G 4: 143,164,445 (GRCm39) V362A possibly damaging Het
Oosp1 T A 19: 11,668,314 (GRCm39) D23V probably damaging Het
Or11a4 T C 17: 37,536,790 (GRCm39) V258A probably benign Het
Or11g24 C T 14: 50,662,546 (GRCm39) T190I probably benign Het
Or4k1 T A 14: 50,377,821 (GRCm39) I92F probably damaging Het
Or4n4b T A 14: 50,536,494 (GRCm39) I91L probably benign Het
Or7a41 C A 10: 78,870,925 (GRCm39) C98* probably null Het
P2rx3 A G 2: 84,865,543 (GRCm39) I34T probably damaging Het
Pate7 A G 9: 35,688,421 (GRCm39) W55R probably damaging Het
Pla2g4a A T 1: 149,717,986 (GRCm39) V621E probably benign Het
Prpf39 T G 12: 65,089,337 (GRCm39) V25G probably benign Het
Psd T C 19: 46,301,851 (GRCm39) K913E probably benign Het
Ptx4 A T 17: 25,341,676 (GRCm39) R50S possibly damaging Het
Rex2 A T 4: 147,137,018 (GRCm39) M16L probably benign Het
Serac1 A T 17: 6,095,937 (GRCm39) V604E probably damaging Het
Sp140l2 A C 1: 85,179,781 (GRCm39) probably null Het
Spata31h1 T A 10: 82,127,482 (GRCm39) N1843Y probably benign Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Het
Stxbp6 T A 12: 44,908,058 (GRCm39) T187S probably benign Het
Tg G A 15: 66,607,108 (GRCm39) C215Y probably damaging Het
Top2b A T 14: 16,407,142 (GRCm38) K671* probably null Het
Trmt1 G T 8: 85,415,962 (GRCm39) V7L probably benign Het
Ttn C T 2: 76,615,174 (GRCm39) R15102H probably benign Het
Unc79 A T 12: 102,957,689 (GRCm39) I35F probably damaging Het
Other mutations in 2810004N23Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02977:2810004N23Rik APN 8 125,587,930 (GRCm39) missense probably benign 0.01
IGL03390:2810004N23Rik APN 8 125,566,564 (GRCm39) utr 3 prime probably benign
FR4342:2810004N23Rik UTSW 8 125,566,572 (GRCm39) frame shift probably null
R0519:2810004N23Rik UTSW 8 125,566,668 (GRCm39) missense possibly damaging 0.90
R1302:2810004N23Rik UTSW 8 125,566,607 (GRCm39) missense probably damaging 1.00
R1349:2810004N23Rik UTSW 8 125,587,992 (GRCm39) missense possibly damaging 0.93
R1640:2810004N23Rik UTSW 8 125,566,584 (GRCm39) missense probably damaging 1.00
R7150:2810004N23Rik UTSW 8 125,589,653 (GRCm39) missense possibly damaging 0.81
R7806:2810004N23Rik UTSW 8 125,569,143 (GRCm39) missense probably benign
R9450:2810004N23Rik UTSW 8 125,567,215 (GRCm39) missense probably damaging 1.00
RF061:2810004N23Rik UTSW 8 125,566,570 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- TGACAGGGACTTCTGAAGGG -3'
(R):5'- TGTATGCAGCTATCTGGGAAGG -3'

Sequencing Primer
(F):5'- ACTTCTGAAGGGGCAGCG -3'
(R):5'- GTGTGTCAACCCCGCCATATG -3'
Posted On 2018-06-22