Incidental Mutation 'R0123:1110059E24Rik'
ID 76993
Institutional Source Beutler Lab
Gene Symbol 1110059E24Rik
Ensembl Gene ENSMUSG00000035171
Gene Name RIKEN cDNA 1110059E24 gene
Synonyms
MMRRC Submission 038408-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.221) question?
Stock # R0123 (G1)
Quality Score 64
Status Validated (trace)
Chromosome 19
Chromosomal Location 21574677-21630155 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 21575565 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000038830] [ENSMUST00000177577] [ENSMUST00000178523] [ENSMUST00000179553] [ENSMUST00000179768]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000038830
AA Change: T153A
SMART Domains Protein: ENSMUSP00000048395
Gene: ENSMUSG00000035171
AA Change: T153A

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 91.1%
Validation Efficiency 99% (71/72)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T A 7: 120,139,378 (GRCm39) L1470Q probably damaging Het
Abraxas2 G A 7: 132,476,584 (GRCm39) R105Q probably damaging Het
Becn1 A G 11: 101,181,324 (GRCm39) Y326H probably damaging Het
Bicd1 T C 6: 149,414,448 (GRCm39) I387T probably benign Het
Btbd9 C T 17: 30,493,916 (GRCm39) D492N possibly damaging Het
Cacna1g T A 11: 94,300,302 (GRCm39) H2156L probably damaging Het
Cd22 A G 7: 30,566,533 (GRCm39) probably benign Het
Cd59b G A 2: 103,909,286 (GRCm39) probably null Het
Chn2 T C 6: 54,267,436 (GRCm39) probably benign Het
Cmya5 A G 13: 93,232,412 (GRCm39) L892P possibly damaging Het
Col5a2 A G 1: 45,446,195 (GRCm39) I461T probably benign Het
Cts8 T A 13: 61,401,391 (GRCm39) M75L probably benign Het
Ddx50 A T 10: 62,457,156 (GRCm39) probably benign Het
Dlg5 T C 14: 24,197,274 (GRCm39) M1558V probably benign Het
Dnlz T C 2: 26,241,380 (GRCm39) N116S probably damaging Het
Efcab14 T C 4: 115,597,728 (GRCm39) F108L probably damaging Het
Ell2 T C 13: 75,910,259 (GRCm39) probably benign Het
Fam234b T G 6: 135,194,072 (GRCm39) S242A possibly damaging Het
Fhip2a G A 19: 57,369,839 (GRCm39) D461N probably benign Het
Garnl3 T C 2: 32,896,816 (GRCm39) T608A possibly damaging Het
Gata3 T C 2: 9,879,620 (GRCm39) T119A probably benign Het
Hdac2 T A 10: 36,865,180 (GRCm39) D131E probably benign Het
Hira T A 16: 18,774,921 (GRCm39) F949I probably benign Het
Il3 A G 11: 54,156,506 (GRCm39) probably null Het
Itgb3 A T 11: 104,527,914 (GRCm39) K216N probably damaging Het
Jkampl A G 6: 73,446,402 (GRCm39) L49P possibly damaging Het
Kctd21 T A 7: 96,997,298 (GRCm39) I257N probably benign Het
Kif16b A T 2: 142,514,295 (GRCm39) S1215T probably benign Het
Lhx9 A T 1: 138,766,417 (GRCm39) C124S probably damaging Het
Lrch3 T A 16: 32,782,124 (GRCm39) probably benign Het
Lrp1b T C 2: 40,486,995 (GRCm39) E142G probably damaging Het
Macf1 T C 4: 123,326,636 (GRCm39) M2835V possibly damaging Het
Mndal A T 1: 173,685,079 (GRCm39) probably benign Het
Mug2 G T 6: 122,051,673 (GRCm39) V952L possibly damaging Het
Nepn A T 10: 52,276,533 (GRCm39) T29S probably damaging Het
Nlgn1 C T 3: 25,490,089 (GRCm39) C546Y probably damaging Het
Notch4 C T 17: 34,784,337 (GRCm39) R43W possibly damaging Het
Nrxn1 A T 17: 91,302,915 (GRCm39) probably null Het
Or14a260 A G 7: 85,984,803 (GRCm39) I267T probably benign Het
Or8k53 T C 2: 86,178,072 (GRCm39) I13V possibly damaging Het
Phf3 A T 1: 30,844,146 (GRCm39) D1604E probably benign Het
Plekhn1 T C 4: 156,312,700 (GRCm39) R53G probably benign Het
Pnp2 T C 14: 51,200,634 (GRCm39) F100S probably damaging Het
Rimoc1 T C 15: 4,015,776 (GRCm39) K263E probably damaging Het
Rxfp1 A G 3: 79,564,783 (GRCm39) S327P probably damaging Het
Siah2 A G 3: 58,583,536 (GRCm39) V250A probably damaging Het
Slc10a7 T A 8: 79,423,787 (GRCm39) probably null Het
Slc9a1 A G 4: 133,147,916 (GRCm39) K645E probably benign Het
Smarca4 T C 9: 21,548,620 (GRCm39) L302P probably damaging Het
Tas2r120 T A 6: 132,634,552 (GRCm39) Y211* probably null Het
Tenm3 A T 8: 49,127,507 (GRCm39) L57Q probably damaging Het
Tep1 C T 14: 51,067,150 (GRCm39) V2269I possibly damaging Het
Tpd52l1 A G 10: 31,255,252 (GRCm39) S32P probably damaging Het
Tsfm A G 10: 126,858,798 (GRCm39) probably benign Het
Ttn T A 2: 76,540,468 (GRCm39) R34173W probably damaging Het
Ttn C A 2: 76,623,474 (GRCm39) V15368L possibly damaging Het
Upk1a A T 7: 30,311,819 (GRCm39) I25N possibly damaging Het
Vmn1r45 A T 6: 89,910,492 (GRCm39) Y159* probably null Het
Vmn2r13 C A 5: 109,322,915 (GRCm39) V125L probably benign Het
Vps13b T C 15: 35,887,407 (GRCm39) I3272T probably benign Het
Zfp108 A G 7: 23,959,892 (GRCm39) H161R probably benign Het
Zfp982 A T 4: 147,597,093 (GRCm39) K150I probably benign Het
Zfyve1 A G 12: 83,601,847 (GRCm39) probably benign Het
Zswim8 T C 14: 20,766,558 (GRCm39) probably benign Het
Other mutations in 1110059E24Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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'- GCTGATGCAGTCACCAACTCTCAAC -3'
(R):5'- AGGAAGCCTGGGAATTCGTTTTCAC -3'

Sequencing Primer
(F):5'- CCAACTCTCAACACTGAATAATTTG -3'
(R):5'- GGGAATTCGTTTTCACCTTGTC -3'
Posted On 2013-10-16