Incidental Mutation 'IGL01448:1700020A23Rik'
ID 84527
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700020A23Rik
Ensembl Gene ENSMUSG00000027409
Gene Name RIKEN cDNA 1700020A23 gene
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock # IGL01448
Quality Score
Status
Chromosome 2
Chromosomal Location 130405259-130406074 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 130405847 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 75 (E75D)
Ref Sequence ENSEMBL: ENSMUSP00000140511 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028898] [ENSMUST00000055421] [ENSMUST00000110281] [ENSMUST00000188900] [ENSMUST00000189961]
AlphaFold Q9DA59
Predicted Effect possibly damaging
Transcript: ENSMUST00000028898
AA Change: E75D

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000028898
Gene: ENSMUSG00000027409
AA Change: E75D

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 possibly damaging
Transcript: ENSMUST00000110281
AA Change: E75D

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000105910
Gene: ENSMUSG00000027409
AA Change: E75D

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
SMART Domains Protein: ENSMUSP00000139502
Gene: ENSMUSG00000100963

DomainStartEndE-ValueType
transmembrane domain 26 48 N/A INTRINSIC
low complexity region 158 175 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000189961
AA Change: E75D

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000140511
Gene: ENSMUSG00000027409
AA Change: E75D

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700084J12Rik A G 15: 33,405,633 probably benign Het
2610303G11Rik T A 9: 98,186,709 noncoding transcript Het
4931414P19Rik T C 14: 54,585,960 D320G possibly damaging Het
Adamts6 G A 13: 104,297,164 E34K probably damaging Het
Alms1 T A 6: 85,677,899 N3142K possibly damaging Het
Anapc7 G A 5: 122,428,213 A62T probably damaging Het
Atp8b3 G A 10: 80,520,422 P1152L probably benign Het
Cc2d2a C T 5: 43,684,185 T181I possibly damaging Het
Celsr2 A G 3: 108,393,239 L2835P probably damaging Het
Ctns A T 11: 73,188,722 V99D possibly damaging Het
Dchs1 T C 7: 105,771,927 R429G probably damaging Het
Ddx11 T C 17: 66,134,137 V218A probably damaging Het
Eftud2 G A 11: 102,865,563 probably benign Het
Erich1 G T 8: 14,078,853 T29N possibly damaging Het
Exosc8 T C 3: 54,729,265 E215G probably damaging Het
Fam184a G T 10: 53,698,949 A188E probably benign Het
Fign A G 2: 63,979,688 S413P probably damaging Het
Fkbp6 A G 5: 135,349,696 S33P probably damaging Het
Glb1 A G 9: 114,450,677 probably benign Het
H2-Q1 T C 17: 35,323,461 probably benign Het
Helz2 T C 2: 181,233,977 T1575A probably damaging Het
Il18r1 A G 1: 40,474,730 E32G probably damaging Het
Ints5 C T 19: 8,895,487 P270L possibly damaging Het
Itga7 G T 10: 128,949,468 E847* probably null Het
Kcns3 A C 12: 11,091,643 S352A possibly damaging Het
Kiz A G 2: 146,863,801 K94E probably benign Het
Lin7b C T 7: 45,369,200 V12M probably damaging Het
Myo18b A T 5: 112,811,704 I1409N probably damaging Het
Myo5b A G 18: 74,644,090 H407R probably damaging Het
Nelfa T C 5: 33,898,802 T506A probably damaging Het
Olfr497 T A 7: 108,423,028 Y152* probably null Het
Olfr763 A G 10: 129,011,860 T192A probably damaging Het
Olfr816 A G 10: 129,912,245 I11T possibly damaging Het
Olfr984 A T 9: 40,101,082 M136K probably damaging Het
Pclo A C 5: 14,676,394 probably benign Het
Pes1 G A 11: 3,977,979 E544K possibly damaging Het
Rabgap1l A G 1: 160,740,745 probably benign Het
Rapgef2 C T 3: 79,103,962 probably null Het
Rapgef2 T C 3: 79,068,937 M1521V probably benign Het
Reln A G 5: 22,040,405 V735A probably benign Het
Slc2a4 A G 11: 69,945,076 S316P possibly damaging Het
Smarce1 C T 11: 99,210,187 G373E possibly damaging Het
Spata31d1a T A 13: 59,701,559 R918S probably benign Het
St3gal4 T C 9: 35,052,331 K227R probably benign Het
Stra6l T A 4: 45,864,864 probably null Het
Stxbp5l T C 16: 37,215,979 I425V probably damaging Het
Tcaf2 T C 6: 42,630,328 T231A probably benign Het
Tiparp G T 3: 65,552,609 G442* probably null Het
Tnks A G 8: 34,839,982 Y1138H probably damaging Het
Vezt T A 10: 93,996,857 I231F probably damaging Het
Vmn2r4 A T 3: 64,406,395 N388K probably damaging Het
Zbed3 A G 13: 95,336,634 K189E possibly damaging Het
Zfp512b T C 2: 181,587,785 T625A possibly damaging Het
Zfp827 A T 8: 79,060,733 Q176L possibly damaging Het
Other mutations in 1700020A23Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3878:1700020A23Rik UTSW 2 130405640 missense probably benign 0.02
R9571:1700020A23Rik UTSW 2 130405562 missense probably benign 0.19
X0060:1700020A23Rik UTSW 2 130405595 missense probably damaging 0.99
Z1088:1700020A23Rik UTSW 2 130405852 missense probably damaging 1.00
Posted On 2013-11-11