Incidental Mutation 'IGL02389:0610040J01Rik'
ID 291689
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 0610040J01Rik
Ensembl Gene ENSMUSG00000060512
Gene Name RIKEN cDNA 0610040J01 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.078) question?
Stock # IGL02389
Quality Score
Status
Chromosome 5
Chromosomal Location 63812363-63899625 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 63896483 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 11 (S11N)
Ref Sequence ENSEMBL: ENSMUSP00000142473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081747] [ENSMUST00000196367] [ENSMUST00000196575] [ENSMUST00000199667]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000081747
AA Change: S11N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080443
Gene: ENSMUSG00000060512
AA Change: S11N

DomainStartEndE-ValueType
Pfam:DUF4699 9 313 2.5e-123 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000196367
AA Change: S11N

PolyPhen 2 Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect probably null
Transcript: ENSMUST00000196575
AA Change: S11N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably null
Transcript: ENSMUST00000199667
AA Change: S11N

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aqp9 T C 9: 71,122,906 I200V possibly damaging Het
BC100530 C A 16: 36,367,486 V6F possibly damaging Het
Cntn2 T C 1: 132,525,321 E411G probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dennd3 A G 15: 73,567,056 D1091G probably damaging Het
Dock2 T C 11: 34,698,740 probably benign Het
Dscam T A 16: 96,640,897 I1577F probably benign Het
Egflam A T 15: 7,250,078 N482K probably benign Het
Fam216a T C 5: 122,367,511 T129A probably damaging Het
Fbxo40 T C 16: 36,969,774 M325V probably benign Het
Fbxw8 C T 5: 118,128,955 V148M possibly damaging Het
Fcgbp C T 7: 28,075,171 R57C probably damaging Het
Gnpnat1 A G 14: 45,380,931 probably null Het
Gria2 T C 3: 80,709,422 T408A probably benign Het
H2-T3 A G 17: 36,186,608 M59T probably benign Het
Jakmip1 C T 5: 37,100,843 Q278* probably null Het
Krtap21-1 C T 16: 89,403,424 G110D unknown Het
Myo7a C T 7: 98,106,991 probably null Het
Nlrp9c T A 7: 26,394,207 Q11L probably benign Het
Olfr1442 A T 19: 12,674,535 D110V probably benign Het
Olfr298 A G 7: 86,489,128 L141P probably damaging Het
Olfr767 A C 10: 129,079,230 I244M probably damaging Het
Olfr790 T A 10: 129,501,070 M62K probably benign Het
Pdzd8 A G 19: 59,301,393 I525T probably benign Het
Pign A T 1: 105,646,781 L280* probably null Het
Pik3r4 T G 9: 105,650,331 I294M possibly damaging Het
Pkhd1 T A 1: 20,117,720 I3455F probably damaging Het
Prmt3 C T 7: 49,848,758 Q471* probably null Het
Prrc2c A G 1: 162,692,870 F2006L probably damaging Het
Ptger3 C T 3: 157,567,171 R52C probably damaging Het
Rfx2 T C 17: 56,808,325 probably benign Het
Sh3bp4 T C 1: 89,145,148 F573L probably damaging Het
Slc18a2 G T 19: 59,263,301 probably benign Het
Slc26a8 T A 17: 28,638,650 I840F probably benign Het
Slc5a4b A T 10: 76,072,465 Y364* probably null Het
Slitrk1 A G 14: 108,912,322 I319T probably benign Het
Stxbp5l C T 16: 37,208,205 A499T probably benign Het
Tnks2 T A 19: 36,884,103 S951R probably benign Het
Trim30c A G 7: 104,382,174 F478S probably benign Het
Tyro3 C T 2: 119,804,864 probably benign Het
Vmn1r34 A T 6: 66,637,058 L232Q probably damaging Het
Zfp148 T A 16: 33,495,446 C215S probably damaging Het
Zzef1 T A 11: 72,899,538 V2106D possibly damaging Het
Zzef1 C T 11: 72,891,217 P1995S probably benign Het
Other mutations in 0610040J01Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01621:0610040J01Rik APN 5 63898383 missense possibly damaging 0.79
IGL02229:0610040J01Rik APN 5 63898353 missense probably damaging 0.99
IGL02411:0610040J01Rik APN 5 63898116 missense probably benign 0.31
R0243:0610040J01Rik UTSW 5 63898463 missense probably benign 0.10
R0411:0610040J01Rik UTSW 5 63896491 splice site probably benign
R1978:0610040J01Rik UTSW 5 63898537 nonsense probably null
R2072:0610040J01Rik UTSW 5 63898737 missense possibly damaging 0.83
R2202:0610040J01Rik UTSW 5 63898668 missense possibly damaging 0.91
R3161:0610040J01Rik UTSW 5 63896490 splice site probably benign
R3162:0610040J01Rik UTSW 5 63896490 splice site probably benign
R4428:0610040J01Rik UTSW 5 63898839 unclassified probably benign
R4429:0610040J01Rik UTSW 5 63898839 unclassified probably benign
R4430:0610040J01Rik UTSW 5 63898839 unclassified probably benign
R4431:0610040J01Rik UTSW 5 63898839 unclassified probably benign
R4464:0610040J01Rik UTSW 5 63898839 unclassified probably benign
R4465:0610040J01Rik UTSW 5 63898839 unclassified probably benign
R4467:0610040J01Rik UTSW 5 63898839 unclassified probably benign
R4491:0610040J01Rik UTSW 5 63898469 missense probably damaging 1.00
R5161:0610040J01Rik UTSW 5 63898001 nonsense probably null
R6115:0610040J01Rik UTSW 5 63897974 missense probably damaging 1.00
R6273:0610040J01Rik UTSW 5 63898218 missense probably damaging 1.00
R7445:0610040J01Rik UTSW 5 63898619 missense probably damaging 0.99
R7593:0610040J01Rik UTSW 5 63898431 missense probably damaging 0.97
R8070:0610040J01Rik UTSW 5 63898167 missense probably benign 0.01
R8140:0610040J01Rik UTSW 5 63898611 missense possibly damaging 0.83
R8165:0610040J01Rik UTSW 5 63897946 splice site probably null
R8557:0610040J01Rik UTSW 5 63898611 missense probably benign 0.04
Posted On 2015-04-16