Incidental Mutation 'R3878:1700020A23Rik'
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ID276933
Institutional Source Beutler Lab
Gene Symbol 1700020A23Rik
Ensembl Gene ENSMUSG00000027409
Gene NameRIKEN cDNA 1700020A23 gene
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #R3878 (G1)
Quality Score225
Status Not validated
Chromosome2
Chromosomal Location130405259-130406074 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 130405640 bp
ZygosityHeterozygous
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]
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
4930402H24Rik T C 2: 130,778,503 R237G possibly damaging Het
A2ml1 T C 6: 128,554,361 S915G probably benign Het
Ablim1 T C 19: 57,037,210 probably null Het
Cadm2 C T 16: 66,815,441 E78K probably damaging Het
Ceacam5 C T 7: 17,750,581 P416L probably damaging Het
Chsy3 T C 18: 59,409,773 F661S probably damaging Het
Clstn3 G A 6: 124,457,942 T338I probably damaging Het
Ctif A G 18: 75,519,977 I403T probably damaging Het
Eprs T A 1: 185,415,953 probably null Het
Fam214b T G 4: 43,035,867 H288P probably damaging Het
Frs2 A C 10: 117,078,910 S35A probably benign Het
Gpr155 C T 2: 73,368,392 W394* probably null Het
Ift140 G A 17: 25,028,944 V259M probably benign Het
Igkv9-124 A T 6: 67,942,207 S74T probably benign Het
Krt14 C T 11: 100,207,089 V123M possibly damaging Het
Mcm2 G A 6: 88,893,008 R60C probably damaging Het
Nebl T C 2: 17,393,252 T457A possibly damaging Het
Nlrp4g A G 9: 124,349,362 noncoding transcript Het
Nsa2 C G 13: 97,132,034 G175A probably benign Het
Olfr1090 T C 2: 86,754,628 T37A probably benign Het
Pax1 A T 2: 147,362,308 probably benign Het
Pdzd2 T C 15: 12,376,176 E1291G probably benign Het
Relb G A 7: 19,617,844 H115Y probably damaging Het
Rnase10 A G 14: 51,009,432 E52G probably damaging Het
Sla2 G A 2: 156,875,942 R137C probably damaging Het
Slc14a2 C T 18: 78,159,074 V614I probably benign Het
Slc20a2 T C 8: 22,568,383 L645P possibly damaging Het
Smoc2 A G 17: 14,325,617 D56G probably damaging Het
Szt2 A G 4: 118,390,585 S789P probably damaging Het
Tenm2 A G 11: 36,139,574 probably null Het
Tm9sf3 A G 19: 41,246,713 V169A probably damaging Het
Trbv13-1 C T 6: 41,116,388 T86I probably benign Het
Trim24 A G 6: 37,964,773 D886G probably benign Het
Trim33 A G 3: 103,352,005 I1003M probably damaging Het
Trim37 T C 11: 87,206,002 V777A probably benign Het
Ttc7 A C 17: 87,370,738 probably benign Het
Ttn T C 2: 76,766,020 D11856G possibly damaging Het
Vmn1r226 A T 17: 20,687,998 D164V possibly damaging Het
Vmn1r34 G A 6: 66,637,568 T62I possibly damaging Het
Wapl T C 14: 34,692,147 L322P probably damaging Het
Zfp62 A G 11: 49,215,133 D17G probably damaging Het
Other mutations in 1700020A23Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01448:1700020A23Rik APN 2 130405847 missense possibly damaging 0.59
X0060:1700020A23Rik UTSW 2 130405595 missense probably damaging 0.99
Z1088:1700020A23Rik UTSW 2 130405852 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 On2015-04-06