Incidental Mutation 'IGL01335:6820408C15Rik'
ID74586
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 6820408C15Rik
Ensembl Gene ENSMUSG00000032680
Gene NameRIKEN cDNA 6820408C15 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock #IGL01335
Quality Score
Status
Chromosome2
Chromosomal Location152415587-152444330 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 152442387 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 300 (M300K)
Ref Sequence ENSEMBL: ENSMUSP00000037024 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039961] [ENSMUST00000128737] [ENSMUST00000153713]
Predicted Effect possibly damaging
Transcript: ENSMUST00000039961
AA Change: M300K

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000037024
Gene: ENSMUSG00000032680
AA Change: M300K

DomainStartEndE-ValueType
Pfam:DUF4618 96 353 4.1e-105 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128737
SMART Domains Protein: ENSMUSP00000117627
Gene: ENSMUSG00000032680

DomainStartEndE-ValueType
Pfam:DUF4618 97 158 1.4e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153713
SMART Domains Protein: ENSMUSP00000120724
Gene: ENSMUSG00000032680

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029J07Rik A T 8: 45,973,605 probably benign Het
Adamts14 T A 10: 61,198,681 R1143W possibly damaging Het
Ankrd28 T C 14: 31,702,024 Y1083C probably damaging Het
Anxa8 T C 14: 34,089,590 M34T probably damaging Het
Aox1 G T 1: 58,082,153 E928* probably null Het
Atp8b5 T A 4: 43,302,628 F50L possibly damaging Het
Brpf1 A G 6: 113,319,337 S863G probably damaging Het
Cdc42bpb A G 12: 111,294,096 probably benign Het
Cdh6 C T 15: 13,051,309 A413T probably benign Het
Cfap97 A G 8: 46,170,455 Q294R probably damaging Het
Cit C T 5: 115,908,830 probably benign Het
Dmbt1 A G 7: 131,088,767 Y736C possibly damaging Het
Eno2 C T 6: 124,766,655 G107E probably damaging Het
Gja8 T C 3: 96,919,242 Q368R probably benign Het
Gm3633 T A 14: 42,640,638 probably benign Het
Gm4987 A T X: 46,455,878 noncoding transcript Het
Gna13 G A 11: 109,365,743 R164Q probably damaging Het
Grhl1 A T 12: 24,608,058 E351D probably damaging Het
Idua A G 5: 108,680,871 Q280R probably benign Het
Igsf5 T A 16: 96,373,153 probably benign Het
Mrpl52 T C 14: 54,427,199 Y39H probably damaging Het
Naa16 A T 14: 79,345,116 probably benign Het
Naa35 T A 13: 59,616,796 L338Q probably damaging Het
Nat8l A T 5: 33,998,447 Y149F probably benign Het
Nck1 A T 9: 100,497,737 W154R probably damaging Het
Ncoa1 A T 12: 4,297,520 S351R probably benign Het
Olfr1046 A T 2: 86,217,572 L46Q probably damaging Het
Olfr1145 A T 2: 87,810,446 T209S probably damaging Het
Olfr1490 A T 19: 13,655,176 H249L probably damaging Het
Olfr765 T C 10: 129,046,511 K184R probably benign Het
Pacs1 A T 19: 5,142,632 V624E probably damaging Het
Pde6b G A 5: 108,423,513 R444H probably benign Het
Pigk A T 3: 152,742,536 T226S probably benign Het
Prkdc T C 16: 15,816,896 probably null Het
Ptbp1 G A 10: 79,862,874 probably null Het
Pyroxd1 T C 6: 142,361,758 V418A probably damaging Het
Rhot1 A T 11: 80,250,229 D421V probably damaging Het
Rimkla T C 4: 119,477,959 T76A possibly damaging Het
Rtn1 A G 12: 72,308,350 V274A probably benign Het
Tatdn2 T A 6: 113,704,056 M289K probably benign Het
Trak1 A G 9: 121,454,316 T476A possibly damaging Het
Ube2i C A 17: 25,269,436 Q11H probably damaging Het
Ugt2a3 A T 5: 87,336,785 C127S probably damaging Het
Uimc1 T A 13: 55,034,911 Q619L probably benign Het
Upk3a T A 15: 85,019,585 Y162N probably damaging Het
Usp33 T C 3: 152,392,217 S849P probably damaging Het
Vmn2r120 G A 17: 57,525,732 T149I possibly damaging Het
Vmn2r15 G A 5: 109,286,736 P701S possibly damaging Het
Vmn2r28 T C 7: 5,481,088 I704M possibly damaging Het
Wdhd1 T C 14: 47,250,782 E756G possibly damaging Het
Xlr3c C A X: 73,260,033 V102F probably benign Het
Zfp384 T G 6: 125,025,053 D220E probably benign Het
Zfp521 A T 18: 13,844,719 V879E probably benign Het
Other mutations in 6820408C15Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01986:6820408C15Rik APN 2 152441036 missense possibly damaging 0.84
IGL02153:6820408C15Rik APN 2 152441241 missense probably benign 0.06
IGL02178:6820408C15Rik APN 2 152428001 splice site probably benign
IGL03339:6820408C15Rik APN 2 152442456 missense probably damaging 1.00
R0468:6820408C15Rik UTSW 2 152441266 missense probably benign 0.01
R1624:6820408C15Rik UTSW 2 152434111 missense probably damaging 0.98
R1642:6820408C15Rik UTSW 2 152440854 missense probably damaging 1.00
R2420:6820408C15Rik UTSW 2 152429001 missense probably damaging 1.00
R3109:6820408C15Rik UTSW 2 152442456 missense probably damaging 1.00
R3153:6820408C15Rik UTSW 2 152440824 missense probably damaging 1.00
R3154:6820408C15Rik UTSW 2 152440824 missense probably damaging 1.00
R3875:6820408C15Rik UTSW 2 152434080 missense probably benign
R4237:6820408C15Rik UTSW 2 152428953 missense possibly damaging 0.46
R4746:6820408C15Rik UTSW 2 152440765 missense probably benign 0.13
R4957:6820408C15Rik UTSW 2 152444093 missense probably damaging 1.00
R4959:6820408C15Rik UTSW 2 152440888 missense possibly damaging 0.90
R4973:6820408C15Rik UTSW 2 152440888 missense possibly damaging 0.90
R5261:6820408C15Rik UTSW 2 152440857 missense probably damaging 1.00
R5399:6820408C15Rik UTSW 2 152440868 missense probably damaging 1.00
R5971:6820408C15Rik UTSW 2 152440870 missense probably damaging 1.00
R6138:6820408C15Rik UTSW 2 152440870 missense probably damaging 1.00
R6223:6820408C15Rik UTSW 2 152427953 missense probably benign 0.00
R6379:6820408C15Rik UTSW 2 152427992 missense probably benign 0.01
R6642:6820408C15Rik UTSW 2 152440870 missense probably damaging 1.00
R6815:6820408C15Rik UTSW 2 152441055 missense probably benign 0.29
R8083:6820408C15Rik UTSW 2 152441067 missense possibly damaging 0.94
U15987:6820408C15Rik UTSW 2 152440870 missense probably damaging 1.00
Posted On2013-10-07