Incidental Mutation 'IGL01302:Endod1'
ID73285
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Endod1
Ensembl Gene ENSMUSG00000037419
Gene Nameendonuclease domain containing 1
Synonyms2210414F18Rik, 2310067E08Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock #IGL01302
Quality Score
Status
Chromosome9
Chromosomal Location14353990-14381507 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 14357239 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 317 (S317T)
Ref Sequence ENSEMBL: ENSMUSP00000127751 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000167549]
Predicted Effect possibly damaging
Transcript: ENSMUST00000167549
AA Change: S317T

PolyPhen 2 Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000127751
Gene: ENSMUSG00000037419
AA Change: S317T

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Endonuclease_NS 61 261 9.04e-1 SMART
NUC 62 264 1.64e-3 SMART
coiled coil region 271 299 N/A INTRINSIC
transmembrane domain 343 365 N/A INTRINSIC
transmembrane domain 430 452 N/A INTRINSIC
transmembrane domain 467 486 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213403
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,399,470 probably benign Het
Abcb5 T A 12: 118,918,200 D598V probably damaging Het
Adssl1 T C 12: 112,634,736 probably benign Het
Akap9 T A 5: 3,970,711 S1141T probably benign Het
Avil T C 10: 127,017,034 probably null Het
Avl9 C A 6: 56,725,090 H77N probably damaging Het
Cacna1e A G 1: 154,443,907 V1349A probably damaging Het
Cdc23 A C 18: 34,634,644 S483A probably benign Het
Cep192 C T 18: 67,858,903 P1951S probably benign Het
Cp A G 3: 19,966,367 T175A probably damaging Het
Dubr A C 16: 50,732,635 noncoding transcript Het
Eif4g2 G T 7: 111,074,713 Q695K possibly damaging Het
Ep400 T C 5: 110,742,048 T450A probably benign Het
Erc1 A C 6: 119,722,303 V790G probably damaging Het
Fam222a T A 5: 114,594,453 L23Q possibly damaging Het
Fam35a C T 14: 34,259,727 V485I probably benign Het
Fancf A G 7: 51,861,287 V323A probably benign Het
Grik2 T A 10: 49,244,330 Q621L probably damaging Het
Gsk3b G T 16: 38,220,018 R319L probably benign Het
Ikzf1 A G 11: 11,768,923 Y297C probably damaging Het
Katnal2 T C 18: 77,047,167 probably benign Het
Lrba G T 3: 86,295,400 C289F probably damaging Het
Mos T C 4: 3,871,815 probably benign Het
Mycn T C 12: 12,937,586 D270G possibly damaging Het
Olfr672 A T 7: 104,996,721 M61K probably damaging Het
Olfr777 T A 10: 129,268,523 I267F probably benign Het
Pclo A G 5: 14,675,999 probably benign Het
Pgm2 A G 4: 99,929,606 D14G probably damaging Het
Pramel7 T A 2: 87,491,373 D106V possibly damaging Het
Prdm9 G T 17: 15,553,346 H263N probably benign Het
Psd4 T A 2: 24,396,787 probably null Het
Ptprc G A 1: 138,099,631 T493I possibly damaging Het
Rbbp8 T A 18: 11,721,979 S420R probably benign Het
Sap30bp A G 11: 115,962,547 T219A probably damaging Het
Slc2a7 T A 4: 150,157,564 L200Q probably damaging Het
Slc38a6 T A 12: 73,288,525 probably null Het
Tatdn2 T A 6: 113,704,024 probably benign Het
Thrb A G 14: 18,011,056 probably benign Het
Timp4 T C 6: 115,246,308 Y218C possibly damaging Het
Tlr5 A G 1: 182,974,748 D525G probably benign Het
Usp32 G T 11: 84,988,482 T1467N probably benign Het
Vmn2r78 A G 7: 86,915,361 I5V unknown Het
Zbtb43 T C 2: 33,454,091 H374R probably benign Het
Zfhx4 C A 3: 5,243,568 T618K probably damaging Het
Other mutations in Endod1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00472:Endod1 APN 9 14356753 missense possibly damaging 0.93
IGL02895:Endod1 APN 9 14356870 missense probably benign 0.06
IGL02994:Endod1 APN 9 14356887 missense possibly damaging 0.93
IGL03120:Endod1 APN 9 14357035 missense probably damaging 0.98
royal_gorge UTSW 9 14356870 missense probably benign 0.06
R0745:Endod1 UTSW 9 14357117 missense possibly damaging 0.92
R1087:Endod1 UTSW 9 14357193 missense possibly damaging 0.69
R1829:Endod1 UTSW 9 14356926 missense probably damaging 1.00
R1857:Endod1 UTSW 9 14357109 missense probably benign 0.05
R2120:Endod1 UTSW 9 14357653 missense probably benign 0.07
R3906:Endod1 UTSW 9 14380855 missense probably benign 0.12
R4801:Endod1 UTSW 9 14357023 missense probably benign 0.05
R4802:Endod1 UTSW 9 14357023 missense probably benign 0.05
R5017:Endod1 UTSW 9 14356891 nonsense probably null
R6027:Endod1 UTSW 9 14357597 nonsense probably null
R6179:Endod1 UTSW 9 14357461 missense probably benign 0.00
R6279:Endod1 UTSW 9 14356870 missense probably benign 0.06
R6300:Endod1 UTSW 9 14356870 missense probably benign 0.06
R6986:Endod1 UTSW 9 14357310 missense probably damaging 1.00
R7314:Endod1 UTSW 9 14356999 missense probably benign 0.07
Posted On2013-10-07