Incidental Mutation 'IGL02609:Gm8229'
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ID300394
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm8229
Ensembl Gene ENSMUSG00000090379
Gene Namepredicted gene 8229
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.470) question?
Stock #IGL02609
Quality Score
Status
Chromosome14
Chromosomal Location44365357-44370841 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 44366625 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 90 (E90D)
Gene Model predicted gene model for transcript(s):
Predicted Effect probably benign
Transcript: ENSMUST00000168161
AA Change: E90D

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000132728
Gene: ENSMUSG00000090379
AA Change: E90D

DomainStartEndE-ValueType
Pfam:Takusan 57 137 5.5e-28 PFAM
coiled coil region 164 186 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210407C18Rik A T 11: 58,612,616 C29S probably damaging Het
A930011G23Rik A G 5: 99,233,995 probably benign Het
Adcy10 T G 1: 165,538,475 Y520* probably null Het
Agrn A T 4: 156,175,223 probably benign Het
AI661453 A T 17: 47,468,372 probably benign Het
Arhgap6 A G X: 169,178,066 probably benign Het
Asxl2 T C 12: 3,500,018 S587P probably damaging Het
B3gntl1 A G 11: 121,644,601 probably benign Het
Bahcc1 T C 11: 120,289,398 F2527L possibly damaging Het
Baz2b T A 2: 59,917,369 M1317L possibly damaging Het
Bcas3 A T 11: 85,457,894 K204I probably damaging Het
C1qtnf1 T C 11: 118,448,004 F167L probably damaging Het
Cfap58 C T 19: 47,975,502 T523M possibly damaging Het
Ddb1 T A 19: 10,622,466 C680S possibly damaging Het
Eef1d T C 15: 75,896,313 Q200R probably null Het
Gm10717 A T 9: 3,026,287 Y195F probably damaging Het
Gm28557 T A 13: 67,071,019 K214* probably null Het
Gm438 T A 4: 144,779,737 D128V probably damaging Het
Hhla1 T C 15: 65,930,614 probably benign Het
Hivep1 C T 13: 42,155,654 H457Y probably damaging Het
Htr2c T C X: 147,193,760 probably benign Het
Ifi44 A T 3: 151,732,497 S384R probably damaging Het
Impad1 T A 4: 4,767,763 R338* probably null Het
Kirrel2 T C 7: 30,448,340 T628A probably benign Het
Kmt2d T C 15: 98,851,793 probably benign Het
Larp4b T A 13: 9,170,680 I655N probably damaging Het
Lrrd1 G A 5: 3,858,803 V692I probably benign Het
Mum1 A T 10: 80,230,083 E57V probably damaging Het
Nes T C 3: 87,977,221 I929T probably benign Het
Ogfr T C 2: 180,592,515 probably benign Het
Rfx2 G T 17: 56,805,404 P43Q probably benign Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Sh3tc1 T C 5: 35,707,172 K495R probably damaging Het
Slit1 A T 19: 41,602,304 C1310S probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Stk35 T C 2: 129,801,801 V235A probably damaging Het
Syde2 T G 3: 145,998,520 V142G probably benign Het
Tgfb3 A G 12: 86,077,839 F32L probably benign Het
Tmem35a T C X: 134,304,697 F121L probably damaging Het
Trp53bp2 T A 1: 182,453,724 D963E probably benign Het
Vmn1r26 A G 6: 58,008,875 S110P probably damaging Het
Vpreb2 T C 16: 17,980,694 probably benign Het
Xrn2 A T 2: 147,050,025 T721S probably benign Het
Other mutations in Gm8229
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02090:Gm8229 APN 14 44366597 missense unknown
R3699:Gm8229 UTSW 14 44366527 missense unknown
R6444:Gm8229 UTSW 14 44365471 missense unknown
R7877:Gm8229 UTSW 14 44366576 nonsense probably null
Posted On2015-04-16