Incidental Mutation 'IGL00594:A130010J15Rik'
ID8503
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol A130010J15Rik
Ensembl Gene ENSMUSG00000079144
Gene NameRIKEN cDNA A130010J15 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock #IGL00594
Quality Score
Status
Chromosome1
Chromosomal Location193168046-193177832 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 193174801 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 154 (T154A)
Ref Sequence ENSEMBL: ENSMUSP00000136653 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043550] [ENSMUST00000076521] [ENSMUST00000110831] [ENSMUST00000160077] [ENSMUST00000160822] [ENSMUST00000161235] [ENSMUST00000178744] [ENSMUST00000191613] [ENSMUST00000192020] [ENSMUST00000192189] [ENSMUST00000193307] [ENSMUST00000194278]
Predicted Effect probably benign
Transcript: ENSMUST00000043550
SMART Domains Protein: ENSMUSP00000040977
Gene: ENSMUSG00000037318

DomainStartEndE-ValueType
low complexity region 23 44 N/A INTRINSIC
coiled coil region 279 486 N/A INTRINSIC
transmembrane domain 487 506 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000076521
SMART Domains Protein: ENSMUSP00000075839
Gene: ENSMUSG00000026638

DomainStartEndE-ValueType
IRF 3 116 1.98e-59 SMART
low complexity region 135 151 N/A INTRINSIC
Blast:IRF 158 189 6e-8 BLAST
IRF-3 223 407 3.92e-86 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110831
AA Change: T154A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000106455
Gene: ENSMUSG00000079144
AA Change: T154A

DomainStartEndE-ValueType
Pfam:DUF4504 13 263 1.4e-83 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160077
AA Change: T154A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000141934
Gene: ENSMUSG00000079144
AA Change: T154A

DomainStartEndE-ValueType
Pfam:DUF4504 13 163 6.7e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160302
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160332
Predicted Effect probably benign
Transcript: ENSMUST00000160822
AA Change: T154A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000124546
Gene: ENSMUSG00000079144
AA Change: T154A

DomainStartEndE-ValueType
Pfam:DUF4504 15 263 2.7e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161235
AA Change: T154A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000124191
Gene: ENSMUSG00000079144
AA Change: T154A

DomainStartEndE-ValueType
Pfam:DUF4504 13 263 1.4e-83 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000178744
AA Change: T154A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000136653
Gene: ENSMUSG00000079144
AA Change: T154A

DomainStartEndE-ValueType
Pfam:DUF4504 13 263 1.4e-83 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000191613
SMART Domains Protein: ENSMUSP00000141799
Gene: ENSMUSG00000079144

DomainStartEndE-ValueType
Pfam:DUF4504 13 70 7.3e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000192020
SMART Domains Protein: ENSMUSP00000141698
Gene: ENSMUSG00000037318

DomainStartEndE-ValueType
low complexity region 23 44 N/A INTRINSIC
coiled coil region 279 486 N/A INTRINSIC
transmembrane domain 487 506 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000192189
Predicted Effect probably benign
Transcript: ENSMUST00000193307
SMART Domains Protein: ENSMUSP00000142273
Gene: ENSMUSG00000079144

DomainStartEndE-ValueType
Pfam:DUF4504 13 84 3.4e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000194278
SMART Domains Protein: ENSMUSP00000141661
Gene: ENSMUSG00000037318

DomainStartEndE-ValueType
low complexity region 23 44 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox1 A G 11: 116,174,505 probably benign Het
Adgrg2 G A X: 160,485,777 V677I probably benign Het
Aifm1 T C X: 48,482,099 T386A probably benign Het
Aspm T C 1: 139,487,422 probably benign Het
Fgfr2 A G 7: 130,228,723 V175A probably damaging Het
Gm14781 C T X: 91,635,485 Q348* probably null Het
Gm382 T C X: 127,063,152 Y987H probably benign Het
Golga3 A T 5: 110,204,975 M911L probably benign Het
Hmgxb3 A G 18: 61,157,739 V354A probably benign Het
Ifne T C 4: 88,879,804 N126D probably benign Het
Igkv3-7 T C 6: 70,607,823 V49A possibly damaging Het
Kbtbd8 A T 6: 95,126,513 Y381F probably damaging Het
Klc1 C T 12: 111,776,884 T215M probably damaging Het
Lrp2 A T 2: 69,486,280 V2119E probably benign Het
Lrrc7 A G 3: 158,187,010 V322A probably benign Het
Ms4a14 A G 19: 11,301,619 S1192P possibly damaging Het
Ndufaf6 T C 4: 11,062,127 Y168C probably damaging Het
Plcg2 C T 8: 117,556,071 T97I possibly damaging Het
Rasgrp4 T C 7: 29,148,541 probably benign Het
Rgs22 T C 15: 36,083,631 H515R probably benign Het
Rpn1 G T 6: 88,095,629 R318L probably damaging Het
Shroom2 A T X: 152,613,516 F1359Y probably damaging Het
Tarsl2 T A 7: 65,676,132 probably null Het
Tbc1d12 A G 19: 38,896,043 E346G possibly damaging Het
Tbccd1 A G 16: 22,822,544 F361S possibly damaging Het
Tenm1 G T X: 42,715,036 P837T probably benign Het
Tmem144 A G 3: 79,839,167 V27A probably benign Het
Zfp616 T A 11: 74,082,963 N19K possibly damaging Het
Zkscan7 T C 9: 122,895,594 Y543H possibly damaging Het
Other mutations in A130010J15Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00330:A130010J15Rik APN 1 193174779 missense probably benign 0.13
R2094:A130010J15Rik UTSW 1 193174846 missense probably benign 0.08
R4754:A130010J15Rik UTSW 1 193174529 missense probably damaging 1.00
R4824:A130010J15Rik UTSW 1 193174657 missense probably benign 0.01
R6195:A130010J15Rik UTSW 1 193174834 unclassified probably null
R6393:A130010J15Rik UTSW 1 193174382 missense possibly damaging 0.82
R6551:A130010J15Rik UTSW 1 193174523 missense probably damaging 0.96
R6809:A130010J15Rik UTSW 1 193174781 missense possibly damaging 0.62
Posted On2012-12-06