Incidental Mutation 'R4294:1110059E24Rik'
ID 368360
Institutional Source Beutler Lab
Gene Symbol 1110059E24Rik
Ensembl Gene ENSMUSG00000035171
Gene Name RIKEN cDNA 1110059E24 gene
Synonyms
MMRRC Submission 041083-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.221) question?
Stock # R4294 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 21574677-21630155 bp(-) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) A to T at 21576113 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000048395 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038830] [ENSMUST00000177577] [ENSMUST00000178523] [ENSMUST00000179553] [ENSMUST00000179768]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000038830
SMART Domains Protein: ENSMUSP00000048395
Gene: ENSMUSG00000035171

DomainStartEndE-ValueType
Pfam:DUF2039 14 102 2.9e-35 PFAM
low complexity region 134 152 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177577
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177605
Predicted Effect probably benign
Transcript: ENSMUST00000178012
Predicted Effect probably benign
Transcript: ENSMUST00000178523
Predicted Effect probably benign
Transcript: ENSMUST00000179553
Predicted Effect probably benign
Transcript: ENSMUST00000179768
SMART Domains Protein: ENSMUSP00000136927
Gene: ENSMUSG00000035171

DomainStartEndE-ValueType
Pfam:DUF2039 13 104 2.5e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000180304
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 98% (44/45)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 A G 17: 24,619,543 (GRCm39) I960M possibly damaging Het
Bivm A T 1: 44,177,793 (GRCm39) R364S probably damaging Het
Bsnd C T 4: 106,342,355 (GRCm39) R271H probably benign Het
Cckar A G 5: 53,863,839 (GRCm39) S41P probably benign Het
Clip2 A C 5: 134,521,167 (GRCm39) V957G probably benign Het
Cyp2c55 A T 19: 39,000,235 (GRCm39) I145F probably damaging Het
Cyp3a11 A T 5: 145,806,005 (GRCm39) S121T probably benign Het
Dlc1 A G 8: 37,051,907 (GRCm39) V608A possibly damaging Het
Dlg3 A T X: 99,840,288 (GRCm39) probably benign Het
Dock3 T A 9: 106,807,242 (GRCm39) R1362W probably damaging Het
Fhdc1 C A 3: 84,352,133 (GRCm39) V1031F probably benign Het
Gimap8 A T 6: 48,635,891 (GRCm39) H552L probably benign Het
Gpr151 T C 18: 42,711,602 (GRCm39) T359A probably benign Het
Gucy1a1 A T 3: 82,002,066 (GRCm39) F671Y possibly damaging Het
Kcnv1 G A 15: 44,977,840 (GRCm39) T66M probably damaging Het
Kif18a T C 2: 109,123,398 (GRCm39) V224A probably benign Het
Lbr C T 1: 181,648,267 (GRCm39) C398Y probably damaging Het
Magel2 T G 7: 62,028,515 (GRCm39) V473G possibly damaging Het
Mapkapk3 T C 9: 107,136,131 (GRCm39) probably benign Het
Nat8f1 T C 6: 85,887,637 (GRCm39) T108A probably benign Het
Nphp3 T A 9: 103,899,916 (GRCm39) L502Q probably damaging Het
Or2v2 T A 11: 49,004,254 (GRCm39) I100L probably benign Het
Otud7a A G 7: 63,346,939 (GRCm39) D171G probably damaging Het
Pcdhb5 T A 18: 37,455,734 (GRCm39) S705T possibly damaging Het
Phf14 C T 6: 11,987,096 (GRCm39) P559S probably damaging Het
Rpl27-ps3 T A 18: 6,332,607 (GRCm39) probably null Het
Sec16a A G 2: 26,312,167 (GRCm39) Y1998H probably benign Het
Setd5 AT ATT 6: 113,088,281 (GRCm39) probably benign Het
Sgsm1 A G 5: 113,433,270 (GRCm39) Y182H probably damaging Het
Slc22a21 T C 11: 53,860,329 (GRCm39) D34G probably damaging Het
Spata13 T A 14: 60,947,004 (GRCm39) M684K probably damaging Het
Srsf6 T C 2: 162,776,636 (GRCm39) probably benign Het
Thrb C T 14: 18,011,145 (GRCm38) Q174* probably null Het
Ticam1 A G 17: 56,578,339 (GRCm39) I252T probably benign Het
Tmem237 A G 1: 59,158,995 (GRCm39) probably benign Het
Trpv1 C T 11: 73,131,290 (GRCm39) A276V probably damaging Het
Vmn1r192 T A 13: 22,371,465 (GRCm39) I252F probably damaging Het
Vmn2r74 T A 7: 85,606,624 (GRCm39) I241F probably benign Het
Other mutations in 1110059E24Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0123:1110059E24Rik UTSW 19 21,575,565 (GRCm39) unclassified probably benign
R0134:1110059E24Rik UTSW 19 21,575,565 (GRCm39) unclassified probably benign
R0180:1110059E24Rik UTSW 19 21,630,003 (GRCm39) missense probably damaging 1.00
R1527:1110059E24Rik UTSW 19 21,575,633 (GRCm39) missense probably damaging 0.96
R1969:1110059E24Rik UTSW 19 21,575,609 (GRCm39) unclassified probably benign
R5182:1110059E24Rik UTSW 19 21,608,129 (GRCm39) start codon destroyed probably null
R9005:1110059E24Rik UTSW 19 21,630,075 (GRCm39) unclassified probably benign
RF004:1110059E24Rik UTSW 19 21,575,645 (GRCm39) missense probably benign 0.19
Predicted Primers PCR Primer
(F):5'- TATGAAGCTCGAGGCCAGAG -3'
(R):5'- TGGCATTGCTTAAAGGGCTTC -3'

Sequencing Primer
(F):5'- AGGCCAGAGCTGATGTTCTTC -3'
(R):5'- TGCTTAAAGGGCTTCTAAGAAATGAG -3'
Posted On 2016-02-01