Incidental Mutation 'R3878:1700020A23Rik'
ID 276933
Institutional Source Beutler Lab
Gene Symbol 1700020A23Rik
Ensembl Gene ENSMUSG00000027409
Gene Name RIKEN cDNA 1700020A23 gene
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # R3878 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 130247179-130247994 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 130247560 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 32 (T32M)
Ref Sequence ENSEMBL: ENSMUSP00000139502 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028898] [ENSMUST00000055421] [ENSMUST00000110281] [ENSMUST00000188900] [ENSMUST00000189961]
AlphaFold Q9DA59
Predicted Effect probably benign
Transcript: ENSMUST00000028898
AA Change: T32M

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000028898
Gene: ENSMUSG00000027409
AA Change: T32M

DomainStartEndE-ValueType
transmembrane domain 26 48 N/A INTRINSIC
low complexity region 68 82 N/A INTRINSIC
transmembrane domain 99 121 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000055421
SMART Domains Protein: ENSMUSP00000055299
Gene: ENSMUSG00000049692

DomainStartEndE-ValueType
Pfam:TMEM239 1 149 1.2e-85 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110281
AA Change: T32M

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000105910
Gene: ENSMUSG00000027409
AA Change: T32M

DomainStartEndE-ValueType
transmembrane domain 26 48 N/A INTRINSIC
low complexity region 68 82 N/A INTRINSIC
transmembrane domain 99 121 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120139
Predicted Effect probably benign
Transcript: ENSMUST00000188900
AA Change: T32M

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000139502
Gene: ENSMUSG00000100963
AA Change: T32M

DomainStartEndE-ValueType
transmembrane domain 26 48 N/A INTRINSIC
low complexity region 158 175 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000189961
AA Change: T32M

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000140511
Gene: ENSMUSG00000027409
AA Change: T32M

DomainStartEndE-ValueType
transmembrane domain 26 48 N/A INTRINSIC
low complexity region 68 82 N/A INTRINSIC
transmembrane domain 99 121 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,531,324 (GRCm39) S915G probably benign Het
Ablim1 T C 19: 57,025,642 (GRCm39) probably null Het
Atosb T G 4: 43,035,867 (GRCm39) H288P probably damaging Het
Cadm2 C T 16: 66,612,329 (GRCm39) E78K probably damaging Het
Ceacam5 C T 7: 17,484,506 (GRCm39) P416L probably damaging Het
Chsy3 T C 18: 59,542,845 (GRCm39) F661S probably damaging Het
Clstn3 G A 6: 124,434,901 (GRCm39) T338I probably damaging Het
Ctif A G 18: 75,653,048 (GRCm39) I403T probably damaging Het
Dnaaf9 T C 2: 130,620,423 (GRCm39) R237G possibly damaging Het
Eprs1 T A 1: 185,148,150 (GRCm39) probably null Het
Frs2 A C 10: 116,914,815 (GRCm39) S35A probably benign Het
Gpr155 C T 2: 73,198,736 (GRCm39) W394* probably null Het
Ift140 G A 17: 25,247,918 (GRCm39) V259M probably benign Het
Igkv9-124 A T 6: 67,919,191 (GRCm39) S74T probably benign Het
Krt14 C T 11: 100,097,915 (GRCm39) V123M possibly damaging Het
Mcm2 G A 6: 88,869,990 (GRCm39) R60C probably damaging Het
Nebl T C 2: 17,398,063 (GRCm39) T457A possibly damaging Het
Nlrp4g A G 9: 124,349,362 (GRCm38) noncoding transcript Het
Nsa2 C G 13: 97,268,542 (GRCm39) G175A probably benign Het
Or8k40 T C 2: 86,584,972 (GRCm39) T37A probably benign Het
Pax1 A T 2: 147,204,228 (GRCm39) probably benign Het
Pdzd2 T C 15: 12,376,262 (GRCm39) E1291G probably benign Het
Relb G A 7: 19,351,769 (GRCm39) H115Y probably damaging Het
Rnase10 A G 14: 51,246,889 (GRCm39) E52G probably damaging Het
Sla2 G A 2: 156,717,862 (GRCm39) R137C probably damaging Het
Slc14a2 C T 18: 78,202,289 (GRCm39) V614I probably benign Het
Slc20a2 T C 8: 23,058,399 (GRCm39) L645P possibly damaging Het
Smoc2 A G 17: 14,545,879 (GRCm39) D56G probably damaging Het
Szt2 A G 4: 118,247,782 (GRCm39) S789P probably damaging Het
Tenm2 A G 11: 36,030,401 (GRCm39) probably null Het
Tm9sf3 A G 19: 41,235,152 (GRCm39) V169A probably damaging Het
Trbv13-1 C T 6: 41,093,322 (GRCm39) T86I probably benign Het
Trim24 A G 6: 37,941,708 (GRCm39) D886G probably benign Het
Trim33 A G 3: 103,259,321 (GRCm39) I1003M probably damaging Het
Trim37 T C 11: 87,096,828 (GRCm39) V777A probably benign Het
Ttc7 A C 17: 87,678,166 (GRCm39) probably benign Het
Ttn T C 2: 76,596,364 (GRCm39) D11856G possibly damaging Het
Vmn1r226 A T 17: 20,908,260 (GRCm39) D164V possibly damaging Het
Vmn1r34 G A 6: 66,614,552 (GRCm39) T62I possibly damaging Het
Wapl T C 14: 34,414,104 (GRCm39) L322P probably damaging Het
Zfp62 A G 11: 49,105,960 (GRCm39) D17G probably damaging Het
Other mutations in 1700020A23Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01448:1700020A23Rik APN 2 130,247,767 (GRCm39) missense possibly damaging 0.59
R9571:1700020A23Rik UTSW 2 130,247,482 (GRCm39) missense probably benign 0.19
X0060:1700020A23Rik UTSW 2 130,247,515 (GRCm39) missense probably damaging 0.99
Z1088:1700020A23Rik UTSW 2 130,247,772 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATCCCTAATCTCTTAGCACTAGGTC -3'
(R):5'- AGAAGTCTGTGTCGTGGCAG -3'

Sequencing Primer
(F):5'- AGGTCTTCCTAATAACCTCTAGGAC -3'
(R):5'- GGTTGGCACCTGTGGGC -3'
Posted On 2015-04-06