Incidental Mutation 'R5182:1110059E24Rik'
ID 397644
Institutional Source Beutler Lab
Gene Symbol 1110059E24Rik
Ensembl Gene ENSMUSG00000035171
Gene Name RIKEN cDNA 1110059E24 gene
Synonyms
MMRRC Submission 042853-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.221) question?
Stock # R5182 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 21574677-21630155 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to G at 21608129 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 1 (M1T)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038830] [ENSMUST00000177577] [ENSMUST00000178523] [ENSMUST00000179553] [ENSMUST00000179768]
AlphaFold no structure available at present
Predicted Effect probably benign
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 probably null
Transcript: ENSMUST00000178012
AA Change: M1T
Predicted Effect probably benign
Transcript: ENSMUST00000178523
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178781
Predicted Effect probably benign
Transcript: ENSMUST00000179553
Predicted Effect unknown
Transcript: ENSMUST00000180304
AA Change: M12T
Predicted Effect probably benign
Transcript: ENSMUST00000179768
SMART Domains Protein: ENSMUSP00000136927
Gene: ENSMUSG00000035171

DomainStartEndE-ValueType
Pfam:DUF2039 13 104 2.5e-36 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 100% (66/66)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 T C 17: 85,000,172 (GRCm39) L243P probably damaging Het
Ankrd27 A G 7: 35,327,912 (GRCm39) T811A probably damaging Het
Auts2 T C 5: 131,503,919 (GRCm39) N188S probably null Het
Bak1 G A 17: 27,241,722 (GRCm39) P65L possibly damaging Het
Cep350 A C 1: 155,733,854 (GRCm39) L3013R probably damaging Het
Clca3b A G 3: 144,533,776 (GRCm39) I533T probably damaging Het
Col6a5 C A 9: 105,734,531 (GRCm39) E2637* probably null Het
Coq5 G A 5: 115,417,815 (GRCm39) R15H probably benign Het
Dnah5 T G 15: 28,311,424 (GRCm39) I1801S probably damaging Het
Dnhd1 G A 7: 105,352,416 (GRCm39) R2523Q probably damaging Het
Dpf3 T C 12: 83,417,370 (GRCm39) E34G probably damaging Het
Dst C A 1: 34,218,167 (GRCm39) Q1536K probably benign Het
Eeig2 T C 3: 108,892,667 (GRCm39) K173E possibly damaging Het
Eng T C 2: 32,562,971 (GRCm39) probably null Het
Fignl1 A T 11: 11,751,717 (GRCm39) I446N probably damaging Het
Fras1 C A 5: 96,784,032 (GRCm39) C845* probably null Het
Gfm2 T C 13: 97,299,401 (GRCm39) V347A probably damaging Het
Gpld1 A T 13: 25,168,053 (GRCm39) probably null Het
Grn C A 11: 102,321,380 (GRCm39) probably benign Het
Gsdmc4 C A 15: 63,765,653 (GRCm39) V299F probably damaging Het
Hrnr A T 3: 93,239,450 (GRCm39) R3229S unknown Het
Icam5 A G 9: 20,946,106 (GRCm39) T313A probably benign Het
Ift172 T A 5: 31,424,958 (GRCm39) D668V possibly damaging Het
Kdm5a T A 6: 120,365,066 (GRCm39) C322* probably null Het
Klk6 A G 7: 43,478,084 (GRCm39) K152R probably benign Het
Man1a2 A C 3: 100,554,333 (GRCm39) I250S probably damaging Het
Nkpd1 A G 7: 19,257,181 (GRCm39) Y170C probably damaging Het
Nmd3 T A 3: 69,629,801 (GRCm39) probably null Het
Or2y3 A G 17: 38,393,005 (GRCm39) M288T probably benign Het
Or51f1 A T 7: 102,506,176 (GRCm39) D104E probably benign Het
Pax4 C T 6: 28,444,368 (GRCm39) E229K probably benign Het
Pdc T C 1: 150,209,105 (GRCm39) I196T possibly damaging Het
Pld1 T C 3: 28,099,230 (GRCm39) I299T probably damaging Het
Pnma1 T C 12: 84,193,819 (GRCm39) I295V probably benign Het
Prkg2 T A 5: 99,172,568 (GRCm39) Y49F probably benign Het
Psmd12 T C 11: 107,370,485 (GRCm39) L28P probably damaging Het
Ptprg A G 14: 12,154,174 (GRCm38) T632A probably benign Het
Rab43 A G 6: 87,771,637 (GRCm39) *118R probably null Het
Rabep1 C T 11: 70,795,454 (GRCm39) R227* probably null Het
Rad51c T G 11: 87,288,545 (GRCm39) I213L possibly damaging Het
Ranbp17 A T 11: 33,169,287 (GRCm39) probably benign Het
Ryr3 T C 2: 112,585,495 (GRCm39) E2735G probably damaging Het
Sdc3 A G 4: 130,548,995 (GRCm39) probably benign Het
Sirpa G A 2: 129,457,652 (GRCm39) R242H possibly damaging Het
Slc12a4 G A 8: 106,671,238 (GRCm39) T983M probably damaging Het
Snx7 A G 3: 117,626,506 (GRCm39) Y252H probably damaging Het
St18 C T 1: 6,887,877 (GRCm39) T482I probably benign Het
St7 A G 6: 17,846,236 (GRCm39) Y163C probably damaging Het
Tas2r140 A T 6: 40,468,866 (GRCm39) Q232L probably benign Het
Tgm6 A T 2: 129,983,222 (GRCm39) K270N probably damaging Het
Tiam2 G A 17: 3,488,996 (GRCm39) G768D probably damaging Het
Ttn C T 2: 76,700,773 (GRCm39) probably benign Het
Ube4b A C 4: 149,465,699 (GRCm39) S250R probably null Het
Ubxn2a G A 12: 4,930,634 (GRCm39) A242V probably damaging Het
Usp10 G A 8: 120,683,420 (GRCm39) V764I possibly damaging Het
Vmn1r222 A G 13: 23,416,667 (GRCm39) L182P probably damaging Het
Vmn2r114 A G 17: 23,510,632 (GRCm39) V616A probably damaging Het
Vps13a A G 19: 16,672,863 (GRCm39) V1303A possibly damaging Het
Wnk2 G T 13: 49,214,637 (GRCm39) T1315K possibly damaging Het
Zfp936 G A 7: 42,839,331 (GRCm39) C266Y probably damaging Het
Zscan20 G T 4: 128,480,504 (GRCm39) N662K possibly 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
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
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'- CCAAGCTACTGTTGCGACTTTC -3'
(R):5'- TGCAAGAGAGCCGCTATCTC -3'

Sequencing Primer
(F):5'- TGCGACTTTCTGACTTCAGG -3'
(R):5'- GTTGGCCACAGTACTTTATCACAGG -3'
Posted On 2016-07-06