Incidental Mutation 'IGL00094:1700006E09Rik'
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ID1129
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700006E09Rik
Ensembl Gene ENSMUSG00000010841
Gene NameRIKEN cDNA 1700006E09 gene
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00094
Quality Score
Status
Chromosome11
Chromosomal Location101984279-101992264 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 101990820 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 114 (E114G)
Ref Sequence ENSEMBL: ENSMUSP00000010985 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010985] [ENSMUST00000107172] [ENSMUST00000107173] [ENSMUST00000175972] [ENSMUST00000176722]
Predicted Effect possibly damaging
Transcript: ENSMUST00000010985
AA Change: E114G

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000010985
Gene: ENSMUSG00000010841
AA Change: E114G

DomainStartEndE-ValueType
Pfam:KIAA1430 35 130 1.1e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107172
SMART Domains Protein: ENSMUSP00000102790
Gene: ENSMUSG00000003518

DomainStartEndE-ValueType
DSPc 29 176 8.04e-58 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107173
SMART Domains Protein: ENSMUSP00000102791
Gene: ENSMUSG00000003518

DomainStartEndE-ValueType
DSPc 54 201 8.04e-58 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000175972
Predicted Effect possibly damaging
Transcript: ENSMUST00000176722
AA Change: E63G

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000134890
Gene: ENSMUSG00000010841
AA Change: E63G

DomainStartEndE-ValueType
Pfam:KIAA1430 1 80 4.8e-22 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T A 5: 125,514,190 N547K probably benign Het
Abca13 A G 11: 9,297,443 T2397A probably benign Het
Abcc1 A G 16: 14,470,534 N1341S probably null Het
Adcy9 T A 16: 4,304,582 I535L probably benign Het
Akap6 A G 12: 53,140,980 S1726G possibly damaging Het
Ap3d1 T C 10: 80,741,979 M5V probably benign Het
Ash1l T A 3: 88,981,712 N299K probably benign Het
B3gnt2 C T 11: 22,836,151 V346I probably benign Het
Ceacam14 G A 7: 17,814,137 V51I probably damaging Het
Cfap69 T C 5: 5,584,682 D812G probably damaging Het
Chrna9 T C 5: 65,969,257 V118A probably benign Het
Cpsf7 A G 19: 10,539,787 R418G probably damaging Het
Csnk1g3 T C 18: 53,919,003 Y215H probably damaging Het
Dcaf5 A C 12: 80,339,323 N676K probably benign Het
Dld A T 12: 31,335,577 M255K probably benign Het
Esr2 A T 12: 76,133,896 L417H probably damaging Het
Fsip2 T A 2: 82,990,386 S5488T probably benign Het
Gatb A T 3: 85,601,920 I130L possibly damaging Het
Gbp9 T C 5: 105,081,264 K506E probably benign Het
Hkdc1 T C 10: 62,393,789 N703S probably damaging Het
Itgb3 T A 11: 104,633,584 V182E probably damaging Het
Itih4 A T 14: 30,895,469 Y582F probably damaging Het
Lancl2 T A 6: 57,724,537 probably benign Het
Lgals3 A G 14: 47,384,718 K197R probably benign Het
Lipe T C 7: 25,383,552 T767A probably damaging Het
Lrp2 T A 2: 69,507,779 D1219V probably damaging Het
Lrriq3 T A 3: 155,101,061 C116S probably benign Het
Mcm5 T G 8: 75,124,945 probably null Het
Mtpn G T 6: 35,522,776 T31K probably damaging Het
Mycbp2 A T 14: 103,223,050 Y1494N probably damaging Het
Nbeal1 G T 1: 60,235,191 E498* probably null Het
Nos1 T G 5: 117,910,100 S657A probably damaging Het
Nr3c1 A T 18: 39,428,608 probably null Het
Olfr1126 T A 2: 87,457,927 V254E probably damaging Het
Olfr1262 T A 2: 90,003,021 I205N possibly damaging Het
Olfr1502 A T 19: 13,861,786 probably benign Het
Olfr281 T G 15: 98,456,418 V36G possibly damaging Het
Olfr44 T C 9: 39,484,648 I202V probably benign Het
Olfr45 A T 7: 140,691,436 H177L probably damaging Het
Olfr851 T A 9: 19,496,859 I37N probably damaging Het
Osbp2 T G 11: 3,711,848 S735R probably benign Het
Otop3 A T 11: 115,344,453 T304S probably benign Het
Pcdhac2 A T 18: 37,145,075 L369F probably damaging Het
Pick1 T C 15: 79,247,257 probably benign Het
Prlhr A T 19: 60,467,681 V149E probably damaging Het
Prss12 G A 3: 123,486,949 probably benign Het
Rab19 A T 6: 39,388,198 probably benign Het
Ralgapb T C 2: 158,420,856 W5R probably damaging Het
Rfx4 T A 10: 84,840,199 L44Q probably damaging Het
Scube2 T C 7: 109,808,454 T760A probably damaging Het
Shcbp1 A C 8: 4,754,258 Y145* probably null Het
Snx31 T A 15: 36,545,616 probably null Het
Spopl A T 2: 23,537,631 V163E possibly damaging Het
Sqor T C 2: 122,787,543 I107T probably damaging Het
Tcte1 T C 17: 45,534,928 F153L probably damaging Het
Tnfrsf11b T A 15: 54,259,842 H121L probably damaging Het
Tnip1 G T 11: 54,940,817 Y10* probably null Het
Tnxb G T 17: 34,685,629 G1123C probably damaging Het
Wdr62 T C 7: 30,243,523 E515G probably benign Het
Zfand1 A T 3: 10,348,530 D32E probably null Het
Zfp112 A C 7: 24,122,243 T3P probably damaging Het
Other mutations in 1700006E09Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02442:1700006E09Rik APN 11 101990826 missense probably benign 0.00
R1802:1700006E09Rik UTSW 11 101988476 missense possibly damaging 0.56
R1937:1700006E09Rik UTSW 11 101987163 missense probably damaging 0.97
R2015:1700006E09Rik UTSW 11 101987218 missense probably damaging 1.00
R3732:1700006E09Rik UTSW 11 101988452 nonsense probably null
R3732:1700006E09Rik UTSW 11 101988452 nonsense probably null
R3733:1700006E09Rik UTSW 11 101988452 nonsense probably null
R3813:1700006E09Rik UTSW 11 101991488 missense probably benign 0.01
R5804:1700006E09Rik UTSW 11 101990814 missense probably damaging 1.00
R7351:1700006E09Rik UTSW 11 101991505 missense probably benign 0.01
R7451:1700006E09Rik UTSW 11 101991457 missense possibly damaging 0.85
R8546:1700006E09Rik UTSW 11 101990861 missense probably damaging 1.00
Posted On2011-07-12