Incidental Mutation 'IGL02426:Rtl9'
ID 292920
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rtl9
Ensembl Gene ENSMUSG00000085584
Gene Name retrotransposon Gag like 9
Synonyms Rgag1, Mart9, Mar9
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # IGL02426
Quality Score
Status
Chromosome X
Chromosomal Location 141882590-141887293 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 141886098 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1170 (V1170A)
Ref Sequence ENSEMBL: ENSMUSP00000128287 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165829]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000165829
AA Change: V1170A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128287
Gene: ENSMUSG00000085584
AA Change: V1170A

DomainStartEndE-ValueType
internal_repeat_2 24 411 4.71e-5 PROSPERO
internal_repeat_1 56 459 4.41e-9 PROSPERO
internal_repeat_2 608 1036 4.71e-5 PROSPERO
internal_repeat_1 700 1107 4.41e-9 PROSPERO
low complexity region 1144 1153 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 G A 16: 20,157,675 (GRCm39) T1294M probably damaging Het
Bad A G 19: 6,928,785 (GRCm39) S128G probably damaging Het
Casp9 T G 4: 141,539,515 (GRCm39) probably null Het
Ccdc39 T C 3: 33,879,547 (GRCm39) K507R possibly damaging Het
Cep76 A G 18: 67,767,987 (GRCm39) S182P probably benign Het
Cmklr2 T C 1: 63,222,827 (GRCm39) Y136C probably damaging Het
Cmtr2 A G 8: 110,948,322 (GRCm39) M211V possibly damaging Het
Cobl T A 11: 12,204,351 (GRCm39) K777* probably null Het
Cul9 T G 17: 46,834,184 (GRCm39) T1253P possibly damaging Het
Dmd T A X: 83,892,342 (GRCm39) L3002H probably damaging Het
Dnah9 C T 11: 66,015,979 (GRCm39) V421I probably benign Het
Eif4a2 A G 16: 22,929,399 (GRCm39) I234V probably benign Het
Epha4 T C 1: 77,421,514 (GRCm39) M323V probably benign Het
Fam47c A G X: 77,781,943 (GRCm39) D175G probably benign Het
Gm14178 T C 11: 99,638,341 (GRCm39) Het
Hes3 T C 4: 152,371,397 (GRCm39) N184S probably benign Het
Kdm6a A G X: 18,112,549 (GRCm39) E45G probably damaging Het
Kdr T C 5: 76,135,126 (GRCm39) K33E probably benign Het
Or2a52 A C 6: 43,144,022 (GRCm39) D10A probably benign Het
Or4k37 A T 2: 111,158,920 (GRCm39) D52V probably damaging Het
Or4k45 A T 2: 111,394,883 (GRCm39) I302K probably benign Het
Or52n4b A G 7: 108,144,187 (GRCm39) T150A probably benign Het
Or8h7 A G 2: 86,720,964 (GRCm39) L185S probably damaging Het
Pi4ka A T 16: 17,196,296 (GRCm39) probably benign Het
Pigk T A 3: 152,448,120 (GRCm39) probably null Het
Pikfyve A G 1: 65,290,771 (GRCm39) T1197A possibly damaging Het
Plppr4 T C 3: 117,115,944 (GRCm39) I638V probably benign Het
Pramel28 T C 4: 143,693,229 (GRCm39) D83G possibly damaging Het
Ryr3 A G 2: 112,731,250 (GRCm39) S687P possibly damaging Het
Skint5 T C 4: 113,797,981 (GRCm39) T201A probably benign Het
Socs5 G T 17: 87,442,320 (GRCm39) R420L probably damaging Het
Sos1 C T 17: 80,742,372 (GRCm39) S385N possibly damaging Het
Tomm34 A T 2: 163,906,875 (GRCm39) V106D probably damaging Het
Tubal3 T C 13: 3,982,750 (GRCm39) S177P probably damaging Het
Wbp2nl G A 15: 82,190,374 (GRCm39) A101T probably damaging Het
Other mutations in Rtl9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02504:Rtl9 APN X 141,885,287 (GRCm39) missense probably benign 0.38
IGL03227:Rtl9 APN X 141,882,824 (GRCm39) missense probably benign 0.30
R0193:Rtl9 UTSW X 141,883,274 (GRCm39) missense probably damaging 1.00
R0627:Rtl9 UTSW X 141,884,271 (GRCm39) missense possibly damaging 0.94
R1828:Rtl9 UTSW X 141,886,011 (GRCm39) missense possibly damaging 0.87
R1967:Rtl9 UTSW X 141,886,037 (GRCm39) missense probably damaging 1.00
R2060:Rtl9 UTSW X 141,885,026 (GRCm39) missense possibly damaging 0.52
Posted On 2015-04-16