Incidental Mutation 'IGL02383:5530400C23Rik'
ID 291478
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 5530400C23Rik
Ensembl Gene ENSMUSG00000055594
Gene Name RIKEN cDNA 5530400C23 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.142) question?
Stock # IGL02383
Quality Score
Status
Chromosome 6
Chromosomal Location 133269179-133272753 bp(+) (GRCm39)
Type of Mutation utr 5 prime
DNA Base Change (assembly) T to C at 133269205 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000035635 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048459]
AlphaFold Q9D3I0
Predicted Effect probably benign
Transcript: ENSMUST00000048459
SMART Domains Protein: ENSMUSP00000035635
Gene: ENSMUSG00000055594

DomainStartEndE-ValueType
Pfam:Pro-rich 1 163 5.2e-13 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adap2 C A 11: 80,051,015 (GRCm39) A115D probably damaging Het
Ankrd1 A G 19: 36,097,165 (GRCm39) V6A probably benign Het
Apobr T A 7: 126,185,779 (GRCm39) V430E probably benign Het
Arhgap28 A G 17: 68,203,084 (GRCm39) V123A probably benign Het
Atp2b2 A G 6: 113,790,903 (GRCm39) V167A probably damaging Het
B3galnt2 A T 13: 14,171,618 (GRCm39) *505C probably null Het
Bcat2 T A 7: 45,237,431 (GRCm39) L305Q probably damaging Het
Coa8 T A 12: 111,690,847 (GRCm39) probably benign Het
Col9a1 T C 1: 24,224,339 (GRCm39) S174P unknown Het
Ddx41 A T 13: 55,680,170 (GRCm39) D418E probably benign Het
Defa40 A G 8: 21,740,377 (GRCm39) D61G probably damaging Het
Exoc6 T C 19: 37,566,922 (GRCm39) F240L probably benign Het
Fbln7 G A 2: 128,737,477 (GRCm39) V431I probably benign Het
Gfral T A 9: 76,104,374 (GRCm39) N213Y probably damaging Het
Golgb1 A G 16: 36,706,562 (GRCm39) D22G probably benign Het
H2-M1 G A 17: 36,981,141 (GRCm39) T298I unknown Het
Haus3 A T 5: 34,323,580 (GRCm39) Y343* probably null Het
Hid1 T C 11: 115,243,446 (GRCm39) E534G probably damaging Het
Il4ra T C 7: 125,170,676 (GRCm39) V196A probably benign Het
Itm2b C A 14: 73,600,536 (GRCm39) E255* probably null Het
Kidins220 A T 12: 25,047,332 (GRCm39) probably benign Het
Klhl22 T A 16: 17,594,762 (GRCm39) F297Y possibly damaging Het
Krt9 T C 11: 100,082,041 (GRCm39) E253G probably damaging Het
Man2a2 G A 7: 80,009,388 (GRCm39) A822V probably damaging Het
Map3k6 T A 4: 132,973,932 (GRCm39) probably null Het
Med29 C A 7: 28,086,448 (GRCm39) R120L possibly damaging Het
Napa C T 7: 15,846,503 (GRCm39) probably benign Het
Ncapd3 T A 9: 26,961,624 (GRCm39) Y351N probably benign Het
Nphs1 C T 7: 30,181,060 (GRCm39) probably benign Het
Or5b94 A G 19: 12,651,899 (GRCm39) D110G probably benign Het
Prss16 T C 13: 22,193,697 (GRCm39) I33V probably benign Het
Ripk1 A G 13: 34,199,227 (GRCm39) Y193C probably damaging Het
Rph3a C T 5: 121,102,002 (GRCm39) R78H probably damaging Het
Rrp9 T A 9: 106,362,471 (GRCm39) I452N probably damaging Het
Ryr2 A T 13: 11,737,607 (GRCm39) probably benign Het
Sec23a A G 12: 59,048,813 (GRCm39) L103P probably damaging Het
Slc17a9 A C 2: 180,377,674 (GRCm39) D190A probably benign Het
Slc44a4 G A 17: 35,146,686 (GRCm39) V422I probably benign Het
Smc5 C T 19: 23,191,996 (GRCm39) probably benign Het
Tax1bp1 C T 6: 52,730,351 (GRCm39) S611F probably benign Het
Tmem38b G A 4: 53,854,345 (GRCm39) M192I probably benign Het
Unc45a G T 7: 79,989,410 (GRCm39) C34* probably null Het
Usp46 T A 5: 74,190,014 (GRCm39) M6L probably benign Het
Uspl1 G A 5: 149,150,212 (GRCm39) V471M probably damaging Het
Vmn1r35 T A 6: 66,655,875 (GRCm39) Q265L probably damaging Het
Vmn1r35 G T 6: 66,655,876 (GRCm39) Q265K probably damaging Het
Vmn1r50 A G 6: 90,084,461 (GRCm39) I69V possibly damaging Het
Vps33b A G 7: 79,935,082 (GRCm39) probably null Het
Xntrpc A C 7: 101,742,802 (GRCm39) D604A probably damaging Het
Yeats4 T A 10: 117,051,716 (GRCm39) R180S probably benign Het
Other mutations in 5530400C23Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01018:5530400C23Rik APN 6 133,271,461 (GRCm39) missense probably benign
IGL01018:5530400C23Rik APN 6 133,271,460 (GRCm39) missense probably benign
R0066:5530400C23Rik UTSW 6 133,269,287 (GRCm39) splice site probably benign
R0105:5530400C23Rik UTSW 6 133,271,277 (GRCm39) missense probably benign 0.32
R0468:5530400C23Rik UTSW 6 133,271,421 (GRCm39) missense probably benign 0.25
R0600:5530400C23Rik UTSW 6 133,270,174 (GRCm39) splice site probably benign
R1523:5530400C23Rik UTSW 6 133,271,256 (GRCm39) missense possibly damaging 0.85
R3418:5530400C23Rik UTSW 6 133,271,082 (GRCm39) missense probably benign 0.32
R3419:5530400C23Rik UTSW 6 133,271,082 (GRCm39) missense probably benign 0.32
R5362:5530400C23Rik UTSW 6 133,271,445 (GRCm39) missense probably benign
R6160:5530400C23Rik UTSW 6 133,271,289 (GRCm39) missense possibly damaging 0.85
R7733:5530400C23Rik UTSW 6 133,271,240 (GRCm39) missense probably benign 0.32
R8746:5530400C23Rik UTSW 6 133,271,256 (GRCm39) missense possibly damaging 0.71
R9544:5530400C23Rik UTSW 6 133,271,202 (GRCm39) missense possibly damaging 0.85
Posted On 2015-04-16