Incidental Mutation 'IGL01726:Enthd1'
ID105265
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Enthd1
Ensembl Gene ENSMUSG00000050439
Gene NameENTH domain containing 1
SynonymsLOC383075
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.073) question?
Stock #IGL01726
Quality Score
Status
Chromosome15
Chromosomal Location80452240-80565156 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 80452451 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Arginine at position 594 (L594R)
Ref Sequence ENSEMBL: ENSMUSP00000155166 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096347] [ENSMUST00000229110]
Predicted Effect probably damaging
Transcript: ENSMUST00000096347
AA Change: L594R

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000094072
Gene: ENSMUSG00000050439
AA Change: L594R

DomainStartEndE-ValueType
ENTH 15 141 1.53e-50 SMART
low complexity region 419 432 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000229110
AA Change: L594R

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adar T C 3: 89,730,840 probably null Het
Arpc2 A G 1: 74,248,179 T53A probably benign Het
Ccdc170 C A 10: 4,549,713 L545M probably benign Het
Ccm2l T C 2: 153,080,901 probably benign Het
Celsr1 T C 15: 85,926,190 N2166D probably benign Het
Clca4b T G 3: 144,928,342 D104A probably damaging Het
Clcnka C T 4: 141,392,740 probably null Het
Clip2 A T 5: 134,522,664 N201K probably damaging Het
Cyp1a2 G A 9: 57,682,202 L110F possibly damaging Het
Dhtkd1 T C 2: 5,942,656 T6A unknown Het
Espnl A G 1: 91,344,904 D618G probably benign Het
Gm6096 A T 7: 34,251,479 I148F probably damaging Het
Hsf5 C T 11: 87,636,125 T541I probably benign Het
Il18r1 A G 1: 40,498,403 S443G possibly damaging Het
Il1a T C 2: 129,304,720 D151G possibly damaging Het
Ints1 A G 5: 139,768,411 probably benign Het
Kcnh1 A C 1: 192,505,856 D875A possibly damaging Het
Naip6 T A 13: 100,303,252 I336F probably benign Het
Napepld A G 5: 21,675,659 F246S possibly damaging Het
Nova1 C T 12: 46,713,497 probably null Het
Nsa2 C A 13: 97,132,017 A181S probably damaging Het
Ntn5 C A 7: 45,694,247 R337S probably damaging Het
Nynrin T C 14: 55,864,154 S427P probably benign Het
Olfr678 A G 7: 105,069,629 E54G probably damaging Het
Pcgf1 T A 6: 83,078,886 probably null Het
Pfn4 T A 12: 4,774,446 L58I probably benign Het
Plekha1 C A 7: 130,897,329 P116Q probably damaging Het
Pou5f2 T C 13: 78,025,181 S81P possibly damaging Het
Prag1 A G 8: 36,102,992 D243G probably damaging Het
Rbm26 G A 14: 105,152,507 P227L probably damaging Het
Rgl1 A T 1: 152,519,153 N756K probably damaging Het
Rhou A T 8: 123,654,141 T66S possibly damaging Het
Rspo3 A T 10: 29,504,708 D103E probably benign Het
Rundc3b T C 5: 8,520,902 K306E probably benign Het
Slc25a32 A G 15: 39,102,071 probably benign Het
St6galnac2 C T 11: 116,685,119 D169N probably damaging Het
Tarsl2 A G 7: 65,682,818 T556A possibly damaging Het
Tmem266 A G 9: 55,435,202 K324E probably benign Het
Tnrc6c T C 11: 117,749,335 probably benign Het
Trappc9 A T 15: 72,946,122 S452T probably damaging Het
Tspear T A 10: 77,881,287 probably benign Het
Ttll5 T G 12: 85,918,934 I571S probably benign Het
Ttn T C 2: 76,967,089 T544A probably benign Het
Ubn1 T C 16: 5,073,470 probably null Het
Ubr2 C A 17: 46,992,981 probably benign Het
Usp21 A T 1: 171,284,001 W360R probably damaging Het
Vmn2r62 A T 7: 42,765,102 L639H probably damaging Het
Zc3h7b T A 15: 81,771,799 I116N possibly damaging Het
Zfp618 C T 4: 63,132,635 T551I probably damaging Het
Zfp804b T C 5: 7,180,707 probably benign Het
Zkscan8 T C 13: 21,520,803 H322R probably benign Het
Zwint T G 10: 72,657,187 probably null Het
Other mutations in Enthd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02127:Enthd1 APN 15 80452742 missense probably damaging 1.00
PIT4151001:Enthd1 UTSW 15 80452736 missense probably damaging 1.00
R0190:Enthd1 UTSW 15 80534494 splice site probably null
R1237:Enthd1 UTSW 15 80534598 missense probably damaging 1.00
R1616:Enthd1 UTSW 15 80452385 missense probably damaging 1.00
R1697:Enthd1 UTSW 15 80452923 missense probably damaging 1.00
R1826:Enthd1 UTSW 15 80474281 missense probably damaging 0.99
R2037:Enthd1 UTSW 15 80560349 missense possibly damaging 0.86
R3420:Enthd1 UTSW 15 80560024 missense probably damaging 1.00
R3814:Enthd1 UTSW 15 80452682 missense probably benign 0.11
R4049:Enthd1 UTSW 15 80560039 missense probably damaging 0.99
R4403:Enthd1 UTSW 15 80452824 missense probably benign 0.00
R4720:Enthd1 UTSW 15 80560309 missense probably damaging 1.00
R6062:Enthd1 UTSW 15 80452715 missense probably damaging 0.96
R6143:Enthd1 UTSW 15 80509286 missense possibly damaging 0.96
R6984:Enthd1 UTSW 15 80560108 missense probably damaging 1.00
R7062:Enthd1 UTSW 15 80452544 missense probably damaging 1.00
R7105:Enthd1 UTSW 15 80509209 missense probably benign 0.17
R7177:Enthd1 UTSW 15 80474214 missense probably damaging 1.00
R7261:Enthd1 UTSW 15 80560215 missense probably damaging 1.00
Posted On2014-01-21