Incidental Mutation 'IGL01649:4931429L15Rik'
ID102772
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4931429L15Rik
Ensembl Gene ENSMUSG00000056617
Gene NameRIKEN cDNA 4931429L15 gene
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01649
Quality Score
Status
Chromosome9
Chromosomal Location46303361-46319986 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 46305818 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 220 (S220P)
Ref Sequence ENSEMBL: ENSMUSP00000128017 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159565] [ENSMUST00000160795] [ENSMUST00000172280]
Predicted Effect probably benign
Transcript: ENSMUST00000159565
AA Change: S220P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000124991
Gene: ENSMUSG00000056617
AA Change: S220P

DomainStartEndE-ValueType
low complexity region 80 87 N/A INTRINSIC
low complexity region 259 272 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160795
Predicted Effect probably benign
Transcript: ENSMUST00000172280
AA Change: S220P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000128017
Gene: ENSMUSG00000056617
AA Change: S220P

DomainStartEndE-ValueType
low complexity region 80 87 N/A INTRINSIC
low complexity region 259 272 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430A15Rik A T 2: 111,214,576 probably benign Het
Adam18 T C 8: 24,614,896 N634S possibly damaging Het
Arhgef18 T A 8: 3,441,211 probably benign Het
Birc6 A G 17: 74,604,546 S1518G probably benign Het
Cltc A G 11: 86,726,400 V341A probably benign Het
Dlg5 A G 14: 24,138,691 V1721A probably damaging Het
Dnah10 A T 5: 124,732,489 I274F probably damaging Het
Dock1 T A 7: 134,777,410 L622Q probably damaging Het
Dysf A G 6: 84,199,839 D1960G probably damaging Het
Fat3 T C 9: 16,376,719 T503A possibly damaging Het
Glb1 A G 9: 114,423,948 Y73C probably damaging Het
Gm9396 G T 3: 130,068,619 noncoding transcript Het
Gml2 G T 15: 74,824,221 E155* probably null Het
Ikzf4 G A 10: 128,635,820 R323C probably damaging Het
Kiz A G 2: 146,889,309 T240A probably benign Het
Lzts3 T C 2: 130,635,431 K480E probably damaging Het
Mcm7 T C 5: 138,169,436 H105R probably damaging Het
Mpdz A G 4: 81,303,633 L1464P probably damaging Het
Mrgpra9 A C 7: 47,235,152 L256V probably benign Het
Mrpl40 T C 16: 18,872,579 Q127R probably benign Het
Myom2 G T 8: 15,113,755 R1003L probably benign Het
Nav2 A G 7: 49,575,729 T1806A probably damaging Het
Olfr248 T C 1: 174,391,408 L113P probably damaging Het
Pibf1 A T 14: 99,187,763 Y562F possibly damaging Het
Ppm1n A T 7: 19,278,197 probably benign Het
Psg17 A G 7: 18,816,802 V376A possibly damaging Het
Sept8 T A 11: 53,535,028 F143I possibly damaging Het
Sestd1 A G 2: 77,199,045 Y330H probably damaging Het
Sntg1 C T 1: 8,681,969 probably benign Het
Stpg2 C A 3: 139,419,862 P472Q probably damaging Het
Thbs1 A G 2: 118,114,982 K314R probably benign Het
Vav3 T C 3: 109,562,762 Y508H probably benign Het
Other mutations in 4931429L15Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00909:4931429L15Rik APN 9 46308952 missense possibly damaging 0.95
R0094:4931429L15Rik UTSW 9 46306886 missense possibly damaging 0.94
R0094:4931429L15Rik UTSW 9 46306886 missense possibly damaging 0.94
R1496:4931429L15Rik UTSW 9 46310254 unclassified probably benign
R1971:4931429L15Rik UTSW 9 46308788 missense probably benign 0.00
R2139:4931429L15Rik UTSW 9 46304295 missense probably damaging 0.96
R4078:4931429L15Rik UTSW 9 46304061 nonsense probably null
R4780:4931429L15Rik UTSW 9 46308846 missense possibly damaging 0.90
R5088:4931429L15Rik UTSW 9 46305740 missense probably benign 0.00
R5138:4931429L15Rik UTSW 9 46306821 critical splice donor site probably null
R5419:4931429L15Rik UTSW 9 46309326 critical splice donor site probably null
R5734:4931429L15Rik UTSW 9 46304005 unclassified probably benign
R5739:4931429L15Rik UTSW 9 46309419 missense probably benign 0.27
R5907:4931429L15Rik UTSW 9 46306822 missense probably damaging 0.97
R6127:4931429L15Rik UTSW 9 46308922 missense probably damaging 1.00
R6564:4931429L15Rik UTSW 9 46306904 missense probably damaging 0.99
R7556:4931429L15Rik UTSW 9 46310313 nonsense probably null
R7818:4931429L15Rik UTSW 9 46304221 missense probably benign 0.01
X0024:4931429L15Rik UTSW 9 46308969 small deletion probably benign
Z1177:4931429L15Rik UTSW 9 46305838 missense probably damaging 0.96
Posted On2014-01-21