Incidental Mutation 'IGL03249:2410002F23Rik'
ID414516
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 2410002F23Rik
Ensembl Gene ENSMUSG00000045411
Gene NameRIKEN cDNA 2410002F23 gene
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL03249
Quality Score
Status
Chromosome7
Chromosomal Location44246722-44252319 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 44250725 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 18 (Y18C)
Ref Sequence ENSEMBL: ENSMUSP00000140017 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012921] [ENSMUST00000055858] [ENSMUST00000071296] [ENSMUST00000084937] [ENSMUST00000107945] [ENSMUST00000107948] [ENSMUST00000107949] [ENSMUST00000107950] [ENSMUST00000118216] [ENSMUST00000137702] [ENSMUST00000145653] [ENSMUST00000146155] [ENSMUST00000185481] [ENSMUST00000186606] [ENSMUST00000187524] [ENSMUST00000188111] [ENSMUST00000188382] [ENSMUST00000191537]
Predicted Effect probably benign
Transcript: ENSMUST00000012921
SMART Domains Protein: ENSMUSP00000012921
Gene: ENSMUSG00000012777

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:His_Phos_2 30 338 3.2e-53 PFAM
transmembrane domain 391 413 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000055858
AA Change: Y18C

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000103583
Gene: ENSMUSG00000045411
AA Change: Y18C

DomainStartEndE-ValueType
low complexity region 53 66 N/A INTRINSIC
low complexity region 167 177 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000071296
AA Change: Y18C

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000071265
Gene: ENSMUSG00000045411
AA Change: Y18C

DomainStartEndE-ValueType
low complexity region 53 66 N/A INTRINSIC
low complexity region 167 177 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000084937
AA Change: Y18C

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000095894
Gene: ENSMUSG00000045411
AA Change: Y18C

DomainStartEndE-ValueType
low complexity region 53 66 N/A INTRINSIC
low complexity region 167 177 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107945
SMART Domains Protein: ENSMUSP00000103578
Gene: ENSMUSG00000012777

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:His_Phos_2 30 324 2.3e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107948
AA Change: Y18C

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000103581
Gene: ENSMUSG00000045411
AA Change: Y18C

DomainStartEndE-ValueType
low complexity region 53 66 N/A INTRINSIC
low complexity region 167 177 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107949
AA Change: Y18C

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000103582
Gene: ENSMUSG00000045411
AA Change: Y18C

DomainStartEndE-ValueType
low complexity region 53 66 N/A INTRINSIC
low complexity region 167 177 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107950
AA Change: Y18C

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000103584
Gene: ENSMUSG00000045411
AA Change: Y18C

DomainStartEndE-ValueType
low complexity region 53 66 N/A INTRINSIC
low complexity region 167 177 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000116702
Predicted Effect noncoding transcript
Transcript: ENSMUST00000116723
Predicted Effect noncoding transcript
Transcript: ENSMUST00000116853
Predicted Effect noncoding transcript
Transcript: ENSMUST00000117033
Predicted Effect probably benign
Transcript: ENSMUST00000118216
SMART Domains Protein: ENSMUSP00000112922
Gene: ENSMUSG00000012777

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:His_Phos_2 30 338 3.2e-53 PFAM
transmembrane domain 392 414 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125318
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136210
Predicted Effect probably benign
Transcript: ENSMUST00000137702
AA Change: Y18C

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000119445
Gene: ENSMUSG00000045411
AA Change: Y18C

DomainStartEndE-ValueType
low complexity region 53 66 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137742
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138978
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144905
Predicted Effect probably damaging
Transcript: ENSMUST00000145653
AA Change: Y18C

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000146155
AA Change: Y18C

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000117318
Gene: ENSMUSG00000045411
AA Change: Y18C

DomainStartEndE-ValueType
low complexity region 53 66 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000185481
AA Change: Y18C

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000139913
Gene: ENSMUSG00000045411
AA Change: Y18C

DomainStartEndE-ValueType
low complexity region 53 66 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000186606
SMART Domains Protein: ENSMUSP00000139441
Gene: ENSMUSG00000045411

DomainStartEndE-ValueType
low complexity region 50 60 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000187524
AA Change: Y18C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140017
Gene: ENSMUSG00000045411
AA Change: Y18C

DomainStartEndE-ValueType
low complexity region 53 66 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187581
Predicted Effect probably benign
Transcript: ENSMUST00000188111
AA Change: Y18C

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000139694
Gene: ENSMUSG00000045411
AA Change: Y18C

DomainStartEndE-ValueType
low complexity region 53 66 N/A INTRINSIC
low complexity region 167 177 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000188382
AA Change: Y18C

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000140200
Gene: ENSMUSG00000045411
AA Change: Y18C

DomainStartEndE-ValueType
low complexity region 53 66 N/A INTRINSIC
low complexity region 167 177 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188476
Predicted Effect probably benign
Transcript: ENSMUST00000191537
SMART Domains Protein: ENSMUSP00000141077
Gene: ENSMUSG00000045411

DomainStartEndE-ValueType
low complexity region 50 60 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 A G 14: 118,627,706 probably benign Het
Acnat2 T C 4: 49,381,787 K202E probably benign Het
Arid2 A T 15: 96,401,965 R1786S probably damaging Het
Atp2a1 C T 7: 126,462,805 E40K probably benign Het
Cdc23 A G 18: 34,644,016 probably benign Het
Ctnnd2 A G 15: 30,683,236 D461G probably benign Het
Galntl6 G T 8: 57,777,176 probably benign Het
Gcc2 T A 10: 58,270,992 Y583* probably null Het
Olfr740 T C 14: 50,453,211 V53A probably damaging Het
Plekhg2 C A 7: 28,368,002 R281L probably damaging Het
Rbm27 A G 18: 42,301,747 D292G probably damaging Het
Ryr3 A T 2: 112,640,656 M4594K probably benign Het
Sec22a T C 16: 35,347,763 Y126C probably damaging Het
Svopl T C 6: 38,017,053 T348A probably benign Het
Svs1 A T 6: 48,988,369 H437L probably benign Het
Tecta T C 9: 42,391,886 E150G probably benign Het
Ttc8 T G 12: 98,943,821 probably benign Het
Zfp51 T A 17: 21,463,439 N105K probably damaging Het
Other mutations in 2410002F23Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1137:2410002F23Rik UTSW 7 44250832 missense probably benign 0.00
R1930:2410002F23Rik UTSW 7 44251116 missense probably damaging 0.99
R1966:2410002F23Rik UTSW 7 44251226 missense probably benign 0.26
R2109:2410002F23Rik UTSW 7 44251011 missense probably benign 0.20
R5580:2410002F23Rik UTSW 7 44251240 missense possibly damaging 0.66
Posted On2016-08-02