Incidental Mutation 'IGL01902:4931406B18Rik'
ID179560
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4931406B18Rik
Ensembl Gene ENSMUSG00000013353
Gene NameRIKEN cDNA 4931406B18 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.049) question?
Stock #IGL01902
Quality Score
Status
Chromosome7
Chromosomal Location43492044-43505940 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 43497843 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 228 (S228P)
Ref Sequence ENSEMBL: ENSMUSP00000126619 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013497] [ENSMUST00000163474] [ENSMUST00000163619] [ENSMUST00000168213] [ENSMUST00000168883] [ENSMUST00000171174] [ENSMUST00000191516]
Predicted Effect probably benign
Transcript: ENSMUST00000013497
AA Change: S322P

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000013497
Gene: ENSMUSG00000013353
AA Change: S322P

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
PDB:2ZG3|A 24 185 9e-7 PDB
Blast:IG_like 119 185 3e-19 BLAST
low complexity region 186 205 N/A INTRINSIC
SCOP:d1iray3 219 297 6e-3 SMART
transmembrane domain 311 333 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000163474
AA Change: S228P

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000126619
Gene: ENSMUSG00000013353
AA Change: S228P

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Blast:IG_like 23 111 3e-12 BLAST
SCOP:d1he7a_ 111 203 1e-3 SMART
Blast:IG_like 125 194 1e-5 BLAST
transmembrane domain 217 239 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163619
SMART Domains Protein: ENSMUSP00000131071
Gene: ENSMUSG00000013353

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
PDB:2ZG3|A 17 88 1e-5 PDB
Blast:IG_like 22 88 2e-21 BLAST
low complexity region 89 104 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168213
SMART Domains Protein: ENSMUSP00000129928
Gene: ENSMUSG00000013353

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Blast:IG_like 23 119 2e-13 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168636
Predicted Effect probably benign
Transcript: ENSMUST00000168883
Predicted Effect probably benign
Transcript: ENSMUST00000171174
AA Change: S322P

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000129888
Gene: ENSMUSG00000013353
AA Change: S322P

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Ig_2 113 216 5.6e-3 PFAM
Pfam:Ig_2 200 297 7.7e-3 PFAM
transmembrane domain 311 333 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000191516
AA Change: S322P

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000139468
Gene: ENSMUSG00000013353
AA Change: S322P

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Ig_2 113 216 5.6e-3 PFAM
Pfam:Ig_2 200 297 7.7e-3 PFAM
transmembrane domain 311 333 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl2 A T 2: 27,087,252 I242F probably damaging Het
Bicdl1 A G 5: 115,651,874 L284P probably damaging Het
Bnc2 A G 4: 84,390,944 I138T probably damaging Het
Cep350 A G 1: 155,861,985 L2704S probably damaging Het
Col7a1 C A 9: 108,977,827 P2442T unknown Het
Cpne6 A T 14: 55,512,750 T113S possibly damaging Het
Crnkl1 T C 2: 145,924,712 probably null Het
Cyp2c67 T A 19: 39,649,026 D2V probably damaging Het
Frzb T A 2: 80,413,367 S323C probably damaging Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm5862 A C 5: 26,022,771 W41G probably benign Het
Ins2 C T 7: 142,679,442 C31Y probably damaging Het
Lipf A T 19: 33,970,779 N234Y probably benign Het
Mtf1 T C 4: 124,804,927 F73L probably damaging Het
Nrxn1 A G 17: 91,088,491 probably null Het
Pcnx A G 12: 81,979,094 T1538A probably damaging Het
Polr1a T A 6: 71,963,748 V47D probably damaging Het
Prune2 A G 19: 17,118,638 E502G probably benign Het
Ralgapa2 C T 2: 146,315,014 V1886M probably damaging Het
Rapgef3 T A 15: 97,750,300 H676L probably benign Het
Rbm20 A T 19: 53,840,991 N607Y probably damaging Het
Smc5 G A 19: 23,259,768 T233I possibly damaging Het
Snx13 A T 12: 35,133,307 probably null Het
Suz12 T A 11: 80,025,950 C510S probably benign Het
Tab2 A T 10: 7,919,992 M242K probably benign Het
Tep1 A G 14: 50,866,091 probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Other mutations in 4931406B18Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01068:4931406B18Rik APN 7 43504175 splice site probably benign
IGL02616:4931406B18Rik APN 7 43501013 splice site probably null
IGL02677:4931406B18Rik APN 7 43501095 nonsense probably null
IGL03030:4931406B18Rik APN 7 43495633 missense possibly damaging 0.62
R0007:4931406B18Rik UTSW 7 43498042 splice site probably benign
R0788:4931406B18Rik UTSW 7 43499199 missense probably damaging 0.98
R1544:4931406B18Rik UTSW 7 43498119 missense possibly damaging 0.92
R2995:4931406B18Rik UTSW 7 43499368 missense probably damaging 1.00
R4656:4931406B18Rik UTSW 7 43501141 missense probably benign 0.20
R5595:4931406B18Rik UTSW 7 43497872 missense possibly damaging 0.92
R6288:4931406B18Rik UTSW 7 43498125 missense probably damaging 1.00
R6389:4931406B18Rik UTSW 7 43497830 missense possibly damaging 0.94
R6651:4931406B18Rik UTSW 7 43498072 missense possibly damaging 0.81
R6912:4931406B18Rik UTSW 7 43501147 missense possibly damaging 0.95
R7254:4931406B18Rik UTSW 7 43498199 missense probably damaging 0.99
Posted On2014-05-07