Incidental Mutation 'IGL00330:A130010J15Rik'
ID7291
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: 0.065) question?
Stock #IGL00330
Quality Score
Status
Chromosome1
Chromosomal Location193168046-193177832 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 193174779 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 146 (D146E)
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: D146E

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000106455
Gene: ENSMUSG00000079144
AA Change: D146E

DomainStartEndE-ValueType
Pfam:DUF4504 13 263 1.4e-83 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160077
AA Change: D146E

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000141934
Gene: ENSMUSG00000079144
AA Change: D146E

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: D146E

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000124546
Gene: ENSMUSG00000079144
AA Change: D146E

DomainStartEndE-ValueType
Pfam:DUF4504 15 263 2.7e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161235
AA Change: D146E

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000124191
Gene: ENSMUSG00000079144
AA Change: D146E

DomainStartEndE-ValueType
Pfam:DUF4504 13 263 1.4e-83 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000178744
AA Change: D146E

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000136653
Gene: ENSMUSG00000079144
AA Change: D146E

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpi A T 1: 87,099,720 L308Q probably damaging Het
Bhmt2 A T 13: 93,666,771 probably benign Het
Bsn T C 9: 108,115,340 E1071G probably damaging Het
Car3 A T 3: 14,868,379 N128Y probably benign Het
Cdkl2 C T 5: 92,017,377 probably null Het
Cul9 T C 17: 46,510,841 probably benign Het
Fam166b G A 4: 43,428,158 R100W possibly damaging Het
Fam208b A G 13: 3,574,832 F1706S probably benign Het
Gm5771 T C 6: 41,394,773 L51P probably damaging Het
Gpr149 T G 3: 62,530,673 I688L probably damaging Het
Kcnq4 G A 4: 120,698,016 Q657* probably null Het
Kif14 G A 1: 136,469,018 S354N probably benign Het
Kif19a G A 11: 114,779,585 G107D probably damaging Het
Loxhd1 A C 18: 77,395,450 R1242S probably damaging Het
Ms4a6c T C 19: 11,478,312 Y162H probably benign Het
Msrb2 G T 2: 19,371,699 R6L unknown Het
Mum1l1 A G X: 139,235,694 D327G probably damaging Het
Myh2 A G 11: 67,193,440 N1630D probably benign Het
Myrf A G 19: 10,224,513 V200A probably benign Het
Ncor2 A G 5: 125,042,743 probably null Het
Nrg1 T A 8: 31,818,089 Q621L probably damaging Het
Olfr1350 A T 7: 6,570,668 I226F possibly damaging Het
Olfr745 G A 14: 50,643,168 A296T probably benign Het
Pfkp A G 13: 6,619,550 F211S probably damaging Het
Prame T C X: 135,614,509 N273S probably benign Het
Rnh1 G A 7: 141,166,731 A49V possibly damaging Het
Serhl C T 15: 83,104,373 S167F probably benign Het
Skint1 T C 4: 112,021,580 probably null Het
Taar7b A C 10: 24,000,842 I302L probably benign Het
Zfp106 G A 2: 120,539,497 P15S probably benign Het
Zfp385b T C 2: 77,476,778 Q167R probably damaging Het
Zfp800 T A 6: 28,243,038 T643S probably benign Het
Other mutations in A130010J15Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00594:A130010J15Rik APN 1 193174801 missense probably benign 0.00
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 On2012-04-20