Incidental Mutation 'R1527:1110059E24Rik'
ID 166314
Institutional Source Beutler Lab
Gene Symbol 1110059E24Rik
Ensembl Gene ENSMUSG00000035171
Gene Name RIKEN cDNA 1110059E24 gene
Synonyms
MMRRC Submission 039567-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.221) question?
Stock # R1527 (G1)
Quality Score 97
Status Not validated
Chromosome 19
Chromosomal Location 21574677-21630155 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 21575633 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 130 (C130F)
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 damaging
Transcript: ENSMUST00000038830
AA Change: C130F

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000048395
Gene: ENSMUSG00000035171
AA Change: C130F

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
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik T C 7: 130,740,589 (GRCm39) D209G probably benign Het
Adam7 A G 14: 68,738,970 (GRCm39) V744A probably benign Het
Atr G T 9: 95,752,096 (GRCm39) R571I possibly damaging Het
C5ar1 A G 7: 15,982,118 (GRCm39) Y301H probably damaging Het
Cacna1d A G 14: 29,829,753 (GRCm39) I954T probably damaging Het
Ccdc157 A G 11: 4,101,795 (GRCm39) F42S probably damaging Het
Cfap251 T C 5: 123,425,408 (GRCm39) V789A probably benign Het
Chd2 A T 7: 73,140,362 (GRCm39) L622* probably null Het
Csmd3 T C 15: 47,811,483 (GRCm39) T1203A probably benign Het
Cxcl17 A G 7: 25,101,636 (GRCm39) V67A possibly damaging Het
Ddx4 T C 13: 112,758,773 (GRCm39) T263A possibly damaging Het
Eps8l1 A G 7: 4,474,393 (GRCm39) D288G probably benign Het
Fbxl4 A G 4: 22,386,154 (GRCm39) K254E probably benign Het
Glis1 T C 4: 107,425,123 (GRCm39) S245P probably damaging Het
Gm11111 T C 5: 98,701,387 (GRCm39) probably benign Het
Haus3 A T 5: 34,311,397 (GRCm39) H544Q probably benign Het
Hmcn1 A G 1: 150,649,554 (GRCm39) V644A probably benign Het
Lmo7 T C 14: 102,114,264 (GRCm39) L2P probably damaging Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Mga A G 2: 119,747,078 (GRCm39) T410A probably damaging Het
Mical3 T C 6: 121,001,740 (GRCm39) D584G probably damaging Het
Miga1 A T 3: 152,023,300 (GRCm39) F250L possibly damaging Het
Mroh1 A G 15: 76,336,463 (GRCm39) D1553G probably benign Het
Myof T C 19: 37,913,067 (GRCm39) Y1462C probably damaging Het
Notch4 T C 17: 34,784,718 (GRCm39) C144R probably damaging Het
Obox1 T C 7: 15,289,250 (GRCm39) V55A probably damaging Het
Or14j8 T A 17: 38,263,720 (GRCm39) H65L possibly damaging Het
Or4a69 C T 2: 89,312,876 (GRCm39) G201D probably benign Het
Or6c69c T A 10: 129,911,061 (GRCm39) S261T probably damaging Het
Pclo T C 5: 14,729,662 (GRCm39) probably benign Het
Prr14l C T 5: 32,985,293 (GRCm39) V1401I possibly damaging Het
Rad51ap1 T C 6: 126,905,130 (GRCm39) probably null Het
Rev3l T A 10: 39,698,818 (GRCm39) V1105D probably damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Sgsm2 A T 11: 74,744,674 (GRCm39) C848* probably null Het
Slc39a10 A T 1: 46,858,422 (GRCm39) V625E probably benign Het
Spry4 C T 18: 38,723,630 (GRCm39) M44I probably benign Het
Stat5b A T 11: 100,699,220 (GRCm39) probably null Het
Tas2r126 T C 6: 42,412,070 (GRCm39) I201T probably benign Het
Tasor T C 14: 27,202,050 (GRCm39) probably null Het
Tex44 A G 1: 86,355,368 (GRCm39) T426A probably benign Het
Tln2 T C 9: 67,179,950 (GRCm39) D807G possibly damaging Het
Tlr9 A G 9: 106,100,949 (GRCm39) N80S probably benign Het
Trpm7 A C 2: 126,672,082 (GRCm39) H579Q probably benign Het
Ufd1 T C 16: 18,633,661 (GRCm39) S29P probably damaging Het
Ugt2a3 G T 5: 87,473,457 (GRCm39) Q487K probably damaging Het
Zfyve9 A G 4: 108,552,964 (GRCm39) probably null 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
R1969:1110059E24Rik UTSW 19 21,575,609 (GRCm39) unclassified probably benign
R4294:1110059E24Rik UTSW 19 21,576,113 (GRCm39) splice site probably null
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'- TGCTGATGCAGTCACCAACTCTC -3'
(R):5'- GAAGGGCTTCTTTCCTGACTCCTTG -3'

Sequencing Primer
(F):5'- GTGTGCCCACACATATTCTG -3'
(R):5'- AGCAGTTAGAATCTGCTGACTCC -3'
Posted On 2014-04-13