Incidental Mutation 'IGL02381:1810041L15Rik'
ID291369
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1810041L15Rik
Ensembl Gene ENSMUSG00000062760
Gene NameRIKEN cDNA 1810041L15 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.068) question?
Stock #IGL02381
Quality Score
Status
Chromosome15
Chromosomal Location84379203-84447097 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 84406453 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 218 (S218P)
Ref Sequence ENSEMBL: ENSMUSP00000141117 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080751] [ENSMUST00000189248] [ENSMUST00000189994]
Predicted Effect probably damaging
Transcript: ENSMUST00000080751
AA Change: S198P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000079575
Gene: ENSMUSG00000062760
AA Change: S198P

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
transmembrane domain 99 121 N/A INTRINSIC
low complexity region 152 178 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000189248
AA Change: S218P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000141117
Gene: ENSMUSG00000062760
AA Change: S218P

DomainStartEndE-ValueType
transmembrane domain 31 50 N/A INTRINSIC
transmembrane domain 119 141 N/A INTRINSIC
low complexity region 172 198 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000189994
SMART Domains Protein: ENSMUSP00000140712
Gene: ENSMUSG00000062760

DomainStartEndE-ValueType
signal peptide 1 25 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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030624J02Rik A G 7: 118,775,375 Y342C probably damaging Het
Abcb5 T A 12: 118,940,678 I126F probably damaging Het
Antxrl T G 14: 34,056,611 probably null Het
Arsa A T 15: 89,475,537 Y62* probably null Het
Atg2b C A 12: 105,648,348 C1108F probably damaging Het
Atp8a1 T C 5: 67,705,995 Q651R probably benign Het
Atxn7l2 A G 3: 108,204,495 probably benign Het
Cacna1f A G X: 7,616,068 D597G probably damaging Het
Capn12 T C 7: 28,886,455 probably benign Het
Ctnna2 A T 6: 76,954,783 D624E probably benign Het
Dnah2 T C 11: 69,446,292 E3274G probably benign Het
Dnah7b A T 1: 46,277,120 N3131I probably damaging Het
Fam3a C T X: 74,387,084 G112E probably damaging Het
Focad T G 4: 88,274,090 probably benign Het
Fyb2 G A 4: 104,948,666 probably benign Het
Htt C T 5: 34,829,760 P1108S probably benign Het
Ift80 A T 3: 68,962,320 probably null Het
Insc T C 7: 114,849,942 *533Q probably null Het
Itga2 A G 13: 114,856,722 C786R probably damaging Het
Lman2 A G 13: 55,351,469 W198R possibly damaging Het
Med23 A G 10: 24,900,728 T713A possibly damaging Het
Mtus1 A T 8: 41,083,119 M520K probably benign Het
Mvd C A 8: 122,437,155 G252V probably benign Het
Ncoa3 T A 2: 166,052,817 V340E probably damaging Het
Necab1 A G 4: 15,148,812 probably null Het
Noxred1 T C 12: 87,225,002 D131G probably damaging Het
P2ry4 C A X: 100,594,201 K30N probably damaging Het
Pcdhac2 T A 18: 37,144,267 V100D possibly damaging Het
Piezo1 C A 8: 122,498,544 R571L probably benign Het
Pkd1l2 C T 8: 117,035,800 probably benign Het
Plekhm2 T C 4: 141,642,723 T32A possibly damaging Het
Rev3l T C 10: 39,821,346 V613A possibly damaging Het
Rp1 A G 1: 4,352,390 S156P probably benign Het
Sema3f A T 9: 107,692,395 D48E probably damaging Het
Slc29a4 T C 5: 142,720,099 V446A probably benign Het
Sppl3 C T 5: 115,074,910 probably null Het
Ttn T C 2: 76,769,638 E19064G probably damaging Het
Other mutations in 1810041L15Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01887:1810041L15Rik APN 15 84406650 missense probably damaging 1.00
IGL02826:1810041L15Rik APN 15 84420129 splice site probably benign
R1604:1810041L15Rik UTSW 15 84406471 missense probably benign 0.01
R1823:1810041L15Rik UTSW 15 84406468 missense probably benign 0.00
R2246:1810041L15Rik UTSW 15 84417199 missense probably damaging 1.00
R3771:1810041L15Rik UTSW 15 84406685 nonsense probably null
R3772:1810041L15Rik UTSW 15 84406685 nonsense probably null
R3773:1810041L15Rik UTSW 15 84406685 nonsense probably null
R4805:1810041L15Rik UTSW 15 84417196 missense probably damaging 1.00
R5070:1810041L15Rik UTSW 15 84420163 missense possibly damaging 0.56
R5114:1810041L15Rik UTSW 15 84417226 missense probably damaging 1.00
R5491:1810041L15Rik UTSW 15 84406510 missense probably benign 0.00
R7567:1810041L15Rik UTSW 15 84406713 missense probably benign 0.00
R8715:1810041L15Rik UTSW 15 84417145 missense probably damaging 1.00
Posted On2015-04-16