Incidental Mutation 'IGL01318:4930550L24Rik'
ID73945
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4930550L24Rik
Ensembl Gene ENSMUSG00000046180
Gene NameRIKEN cDNA 4930550L24 gene
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01318
Quality Score
Status
ChromosomeX
Chromosomal Location58909360-58920304 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 58919469 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 196 (I196N)
Ref Sequence ENSEMBL: ENSMUSP00000113812 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062542] [ENSMUST00000118305]
Predicted Effect probably damaging
Transcript: ENSMUST00000062542
AA Change: I196N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051134
Gene: ENSMUSG00000046180
AA Change: I196N

DomainStartEndE-ValueType
low complexity region 32 70 N/A INTRINSIC
Pfam:MAGE 91 261 3.7e-49 PFAM
low complexity region 278 296 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000118305
AA Change: I196N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113812
Gene: ENSMUSG00000046180
AA Change: I196N

DomainStartEndE-ValueType
low complexity region 32 70 N/A INTRINSIC
MAGE 91 261 1.23e-98 SMART
low complexity region 278 296 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg10b T C 15: 90,228,389 probably benign Het
Ambn T C 5: 88,460,695 probably benign Het
Asap2 A G 12: 21,247,295 D585G probably null Het
Chaf1a G T 17: 56,059,336 probably benign Het
Ddhd1 A G 14: 45,616,551 S443P probably damaging Het
Dlk2 A G 17: 46,302,464 E215G probably damaging Het
Efhd2 T C 4: 141,859,865 N202S probably benign Het
Fam208b A C 13: 3,575,067 S946A possibly damaging Het
Gkap1 A T 13: 58,237,039 I308K probably damaging Het
Gm14025 C A 2: 129,038,702 V435L probably benign Het
Gm9848 T A 13: 113,108,240 noncoding transcript Het
Hmcn1 G A 1: 150,719,240 T1826I probably damaging Het
Htr5a T C 5: 27,842,744 V99A probably benign Het
Inha T G 1: 75,509,928 F289C probably damaging Het
Kcna3 T C 3: 107,037,978 V519A probably benign Het
Kcnma1 A T 14: 23,314,322 probably benign Het
Kctd1 A G 18: 15,062,690 V292A possibly damaging Het
Map2k4 A G 11: 65,756,263 probably benign Het
Mfap2 G T 4: 141,015,545 A175S possibly damaging Het
Milr1 G A 11: 106,765,245 A114T possibly damaging Het
Mogs G T 6: 83,118,577 V792F probably damaging Het
Nt5dc3 T A 10: 86,825,225 M418K possibly damaging Het
Olfr1098 A T 2: 86,922,949 N194K probably benign Het
Olfr1448 A G 19: 12,920,126 L61P probably damaging Het
Olfr77 A G 9: 19,920,758 E183G probably benign Het
Osbpl10 G A 9: 115,232,122 W756* probably null Het
Pgam5 A G 5: 110,265,525 Y235H probably damaging Het
Pgm5 G T 19: 24,816,478 A274E probably damaging Het
Prex1 C A 2: 166,569,340 probably benign Het
Prps1l1 A T 12: 34,985,378 N164I probably benign Het
Ralbp1 C A 17: 65,864,282 R232L probably damaging Het
Rnaseh2a C T 8: 84,965,123 probably benign Het
Stard9 A T 2: 120,698,719 H1819L possibly damaging Het
Stom T A 2: 35,336,877 I15F probably benign Het
Tph1 T G 7: 46,665,238 T22P probably damaging Het
Uqcrfs1 A G 13: 30,540,921 I212T probably benign Het
Ush2a T C 1: 188,814,353 I3442T probably benign Het
Vmn2r113 A G 17: 22,958,335 I698V probably benign Het
Vmn2r75 T C 7: 86,165,566 I240V probably benign Het
Wdr17 T C 8: 54,672,550 T432A probably damaging Het
Other mutations in 4930550L24Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03351:4930550L24Rik APN X 58918937 missense probably benign 0.14
Posted On2013-10-07