Incidental Mutation 'R0180:1110059E24Rik'
ID 23885
Institutional Source Beutler Lab
Gene Symbol 1110059E24Rik
Ensembl Gene ENSMUSG00000035171
Gene Name RIKEN cDNA 1110059E24 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.221) question?
Stock # R0180 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 21574677-21630155 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 21630003 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 24 (N24Y)
Ref Sequence ENSEMBL: ENSMUSP00000136927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038830] [ENSMUST00000052556] [ENSMUST00000177577] [ENSMUST00000178523] [ENSMUST00000179553] [ENSMUST00000179768]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000038830
AA Change: N24Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048395
Gene: ENSMUSG00000035171
AA Change: N24Y

DomainStartEndE-ValueType
Pfam:DUF2039 14 102 2.9e-35 PFAM
low complexity region 134 152 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000052556
SMART Domains Protein: ENSMUSP00000056099
Gene: ENSMUSG00000047368

DomainStartEndE-ValueType
low complexity region 4 19 N/A INTRINSIC
Pfam:Hydrolase_4 88 209 8.3e-9 PFAM
Pfam:Abhydrolase_5 93 265 6.3e-31 PFAM
Pfam:DLH 128 265 8.4e-7 PFAM
Pfam:Peptidase_S9 132 286 9.8e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000177577
AA Change: N24Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000178523
AA Change: N24Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178781
Predicted Effect probably damaging
Transcript: ENSMUST00000179553
AA Change: N24Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000179768
AA Change: N24Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136927
Gene: ENSMUSG00000035171
AA Change: N24Y

DomainStartEndE-ValueType
Pfam:DUF2039 13 104 2.5e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000180304
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 89.5%
Validation Efficiency 77% (53/69)
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810408A11Rik A T 11: 69,789,702 (GRCm39) M311K probably benign Het
Ackr2 T C 9: 121,737,982 (GRCm39) I119T probably benign Het
Adamtsl3 A G 7: 82,225,198 (GRCm39) M336V probably benign Het
Adhfe1 T A 1: 9,634,082 (GRCm39) F374I probably benign Het
Apob C T 12: 8,058,285 (GRCm39) Q2256* probably null Het
Arg1 T C 10: 24,792,728 (GRCm39) I169V probably benign Het
Atxn1 A G 13: 45,711,024 (GRCm39) V636A probably damaging Het
B3gnt5 T A 16: 19,587,850 (GRCm39) I23K possibly damaging Het
Catsperg1 A T 7: 28,889,856 (GRCm39) probably null Het
Celf3 T A 3: 94,392,647 (GRCm39) F115L probably damaging Het
Cep192 T A 18: 67,968,559 (GRCm39) H984Q probably damaging Het
Col18a1 A G 10: 76,932,351 (GRCm39) V493A probably benign Het
Col5a2 C T 1: 45,450,620 (GRCm39) G376S probably damaging Het
Colec12 A G 18: 9,848,890 (GRCm39) H356R probably damaging Het
Colec12 C T 18: 9,858,921 (GRCm39) P568L unknown Het
Cracr2a T C 6: 127,581,037 (GRCm39) probably null Het
Ctsr T C 13: 61,310,559 (GRCm39) H62R probably damaging Het
Cyp4f40 G T 17: 32,878,641 (GRCm39) W61L probably benign Het
Dnah9 T G 11: 66,038,116 (GRCm39) H140P probably damaging Het
Dnai7 A G 6: 145,128,944 (GRCm39) probably benign Het
Dnm1 T G 2: 32,218,005 (GRCm39) I464L probably damaging Het
Dnmt1 G A 9: 20,819,916 (GRCm39) T1409I probably damaging Het
Dock1 G A 7: 134,700,566 (GRCm39) D1109N probably damaging Het
Efhc1 A G 1: 21,037,713 (GRCm39) M297V probably benign Het
Emcn A T 3: 137,124,755 (GRCm39) probably null Het
Ephb1 A T 9: 101,804,703 (GRCm39) M905K probably damaging Het
Fbxw10 A G 11: 62,743,922 (GRCm39) Y276C probably benign Het
Fermt3 C A 19: 6,979,711 (GRCm39) S474I possibly damaging Het
Frg1 T A 8: 41,852,105 (GRCm39) probably null Het
Gbf1 T C 19: 46,274,161 (GRCm39) S1732P probably benign Het
Gbp8 A C 5: 105,179,142 (GRCm39) L119R probably damaging Het
Gldc C T 19: 30,078,217 (GRCm39) A927T possibly damaging Het
Gm8836 T A 6: 70,237,389 (GRCm39) probably benign Het
Grhl3 C T 4: 135,281,841 (GRCm39) V344I probably benign Het
Hhipl1 T A 12: 108,294,329 (GRCm39) L745H probably damaging Het
Ido1 T C 8: 25,083,156 (GRCm39) I90V possibly damaging Het
Itpr2 T A 6: 146,403,407 (GRCm39) probably benign Het
Kif1b T G 4: 149,298,116 (GRCm39) S1029R probably damaging Het
Kmt2a G A 9: 44,738,148 (GRCm39) probably benign Het
Limk1 T C 5: 134,698,115 (GRCm39) N215D probably damaging Het
Lims2 A G 18: 32,089,368 (GRCm39) K144E probably benign Het
Mfsd6l A T 11: 68,447,371 (GRCm39) Q74L possibly damaging Het
Mroh1 T A 15: 76,312,450 (GRCm39) S546T probably damaging Het
Ncbp3 T A 11: 72,955,804 (GRCm39) probably null Het
Nlrx1 G A 9: 44,166,756 (GRCm39) H776Y possibly damaging Het
Nptxr T C 15: 79,678,604 (GRCm39) M228V probably benign Het
Nsf T A 11: 103,821,606 (GRCm39) L13F probably damaging Het
Nyap1 T C 5: 137,736,283 (GRCm39) E68G probably damaging Het
Or10p22 A T 10: 128,826,703 (GRCm39) R307S possibly damaging Het
Or51r1 A G 7: 102,228,239 (GRCm39) Y179C probably damaging Het
Pcdhb9 A G 18: 37,535,307 (GRCm39) N434D probably damaging Het
Pgm5 T C 19: 24,793,127 (GRCm39) D313G probably damaging Het
Pkdcc G A 17: 83,529,299 (GRCm39) probably null Het
Pkp1 T C 1: 135,814,538 (GRCm39) K261R probably benign Het
Pnpla6 A G 8: 3,574,250 (GRCm39) probably null Het
Polr3b A G 10: 84,458,379 (GRCm39) T17A probably benign Het
Ppt2 A T 17: 34,845,477 (GRCm39) M98K probably damaging Het
Rasal3 T C 17: 32,618,379 (GRCm39) D142G probably benign Het
Rbm17 G A 2: 11,592,590 (GRCm39) S295L probably benign Het
Rhbdf1 A T 11: 32,160,042 (GRCm39) V153D possibly damaging Het
Slc6a3 C T 13: 73,710,455 (GRCm39) T355M probably damaging Het
Snrnp35 A T 5: 124,628,883 (GRCm39) probably benign Het
Sorcs2 A T 5: 36,311,189 (GRCm39) I37N probably damaging Het
Tecta G T 9: 42,278,109 (GRCm39) P1133Q probably benign Het
Tmem145 A G 7: 25,014,124 (GRCm39) I413V probably benign Het
Trappc11 G T 8: 47,981,009 (GRCm39) T144K possibly damaging Het
Triml2 A T 8: 43,643,346 (GRCm39) I223L probably benign Het
Ube2g2 T A 10: 77,466,573 (GRCm39) N19K possibly damaging Het
Ubqln3 A G 7: 103,791,047 (GRCm39) Y348H probably damaging Het
Wfs1 A G 5: 37,124,372 (GRCm39) F840L probably damaging Het
Zc3h11a T C 1: 133,549,349 (GRCm39) I771V probably benign Het
Zdhhc23 G A 16: 43,794,066 (GRCm39) P203S probably benign Het
Zfp106 T G 2: 120,364,356 (GRCm39) T684P probably damaging Het
Zfp217 A T 2: 169,962,057 (GRCm39) L90Q probably damaging 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
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'- AGTCGCTGCAAAGAGACACTCG -3'
(R):5'- AGAAAGCCGGACTTGCACCTTG -3'

Sequencing Primer
(F):5'- CACTACTGAGATGTGCTGACC -3'
(R):5'- GTAGAAGAACTTCTTCCGGGTCAC -3'
Posted On 2013-04-16