Incidental Mutation 'IGL00162:C330021F23Rik'
ID1424
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol C330021F23Rik
Ensembl Gene ENSMUSG00000065952
Gene NameRIKEN cDNA C330021F23 gene
SynonymsRps23rg1
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL00162
Quality Score
Status
Chromosome8
Chromosomal Location3567990-3584939 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 3583904 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 2 (T2A)
Ref Sequence ENSEMBL: ENSMUSP00000119487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057028] [ENSMUST00000086479] [ENSMUST00000136592] [ENSMUST00000151633] [ENSMUST00000171962] [ENSMUST00000207077] [ENSMUST00000207432] [ENSMUST00000207533] [ENSMUST00000207712] [ENSMUST00000207970] [ENSMUST00000208036] [ENSMUST00000208240]
Predicted Effect probably benign
Transcript: ENSMUST00000057028
SMART Domains Protein: ENSMUSP00000058958
Gene: ENSMUSG00000044433

DomainStartEndE-ValueType
low complexity region 30 45 N/A INTRINSIC
low complexity region 90 109 N/A INTRINSIC
Pfam:CH 166 315 5.5e-27 PFAM
Pfam:CAMSAP_CH 214 296 1.2e-29 PFAM
low complexity region 359 373 N/A INTRINSIC
coiled coil region 595 633 N/A INTRINSIC
low complexity region 645 655 N/A INTRINSIC
coiled coil region 696 727 N/A INTRINSIC
low complexity region 749 779 N/A INTRINSIC
low complexity region 828 837 N/A INTRINSIC
low complexity region 866 881 N/A INTRINSIC
coiled coil region 900 943 N/A INTRINSIC
low complexity region 944 965 N/A INTRINSIC
low complexity region 1002 1024 N/A INTRINSIC
CAMSAP_CKK 1111 1240 1.29e-86 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000086479
AA Change: T26A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000136628
Gene: ENSMUSG00000065952
AA Change: T26A

DomainStartEndE-ValueType
transmembrane domain 104 126 N/A INTRINSIC
low complexity region 129 140 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000136592
AA Change: T26A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000123235
Gene: ENSMUSG00000065952
AA Change: T26A

DomainStartEndE-ValueType
transmembrane domain 104 126 N/A INTRINSIC
low complexity region 129 140 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146939
Predicted Effect probably benign
Transcript: ENSMUST00000151633
AA Change: T2A

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000119487
Gene: ENSMUSG00000065952
AA Change: T2A

DomainStartEndE-ValueType
transmembrane domain 72 94 N/A INTRINSIC
low complexity region 105 116 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000171962
SMART Domains Protein: ENSMUSP00000125993
Gene: ENSMUSG00000044433

DomainStartEndE-ValueType
low complexity region 30 45 N/A INTRINSIC
low complexity region 90 109 N/A INTRINSIC
Pfam:CAMSAP_CH 214 296 6e-31 PFAM
low complexity region 360 374 N/A INTRINSIC
Pfam:CAMSAP_CC1 587 645 1.1e-27 PFAM
low complexity region 646 656 N/A INTRINSIC
coiled coil region 697 728 N/A INTRINSIC
low complexity region 750 780 N/A INTRINSIC
low complexity region 829 838 N/A INTRINSIC
low complexity region 867 882 N/A INTRINSIC
coiled coil region 901 944 N/A INTRINSIC
low complexity region 945 966 N/A INTRINSIC
low complexity region 1003 1025 N/A INTRINSIC
CAMSAP_CKK 1112 1241 1.29e-86 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000207077
Predicted Effect probably benign
Transcript: ENSMUST00000207432
Predicted Effect probably benign
Transcript: ENSMUST00000207533
Predicted Effect probably benign
Transcript: ENSMUST00000207712
Predicted Effect probably benign
Transcript: ENSMUST00000207970
Predicted Effect probably benign
Transcript: ENSMUST00000208036
Predicted Effect probably benign
Transcript: ENSMUST00000208240
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cc2d1b T G 4: 108,627,378 L470R probably damaging Het
Cd96 A T 16: 46,071,799 N275K possibly damaging Het
Col22a1 A G 15: 71,860,958 probably null Het
Cyb561 T C 11: 105,935,836 H197R probably damaging Het
Dlgap1 T C 17: 70,516,085 S22P probably benign Het
Dnajc6 A G 4: 101,508,089 probably benign Het
Fgf6 A T 6: 127,024,085 K185N possibly damaging Het
Fshr T C 17: 88,986,191 N353S probably damaging Het
Gabbr1 T A 17: 37,048,443 Y103* probably null Het
Gm7247 G A 14: 51,523,505 C177Y possibly damaging Het
Hikeshi A G 7: 89,935,781 F72L probably damaging Het
Ikzf4 T C 10: 128,634,547 E368G probably benign Het
Kdm3b A G 18: 34,809,409 E851G probably benign Het
Kif3b A G 2: 153,317,131 D284G probably damaging Het
Kyat3 G A 3: 142,734,474 A320T probably benign Het
Mok C T 12: 110,808,197 probably benign Het
Mrgpra3 A G 7: 47,589,519 F220L probably benign Het
Nr4a1 T C 15: 101,270,899 V272A probably damaging Het
Olfr1124 A G 2: 87,435,063 H192R probably benign Het
Olfr703 A G 7: 106,845,367 Y252C possibly damaging Het
Pikfyve T A 1: 65,260,121 probably null Het
Plekhn1 T G 4: 156,223,363 T369P probably damaging Het
Ptpn12 T C 5: 21,029,850 E45G probably damaging Het
Ralgps1 A T 2: 33,137,682 *516R probably null Het
Senp6 A G 9: 80,116,610 D385G probably damaging Het
Siglech T C 7: 55,772,591 probably benign Het
Slit1 A G 19: 41,650,835 L212P probably damaging Het
Smchd1 T A 17: 71,465,673 probably benign Het
Snapc4 A T 2: 26,369,312 C609S probably benign Het
Strn3 T C 12: 51,661,196 T139A possibly damaging Het
Tcaf3 T C 6: 42,593,385 T478A probably benign Het
Tlr3 A G 8: 45,400,690 S198P probably damaging Het
Ttn C T 2: 76,890,479 probably benign Het
Vil1 G A 1: 74,423,875 E406K probably damaging Het
Zfp462 A G 4: 55,011,483 probably null Het
Zfyve9 A G 4: 108,642,107 V1338A possibly damaging Het
Other mutations in C330021F23Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1291:C330021F23Rik UTSW 8 3583938 missense probably damaging 1.00
R4755:C330021F23Rik UTSW 8 3583922 missense probably damaging 1.00
R7796:C330021F23Rik UTSW 8 3584160 missense probably benign 0.00
R7835:C330021F23Rik UTSW 8 3580452 intron probably benign
Posted On2011-07-12