Incidental Mutation 'IGL02349:D1Ertd622e'
ID289426
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol D1Ertd622e
Ensembl Gene ENSMUSG00000044768
Gene NameDNA segment, Chr 1, ERATO Doi 622, expressed
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.167) question?
Stock #IGL02349
Quality Score
Status
Chromosome1
Chromosomal Location97606318-97662074 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 97646052 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 96 (L96P)
Ref Sequence ENSEMBL: ENSMUSP00000137803 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053033] [ENSMUST00000142234] [ENSMUST00000149927] [ENSMUST00000153115]
Predicted Effect probably damaging
Transcript: ENSMUST00000053033
AA Change: L96P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000051034
Gene: ENSMUSG00000044768
AA Change: L96P

DomainStartEndE-ValueType
Pfam:UNC119_bdg 3 201 2.3e-119 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000142234
AA Change: L96P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137803
Gene: ENSMUSG00000044768
AA Change: L96P

DomainStartEndE-ValueType
Pfam:UNC119_bdg 3 134 1.1e-74 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000149927
AA Change: L96P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000121997
Gene: ENSMUSG00000044768
AA Change: L96P

DomainStartEndE-ValueType
Pfam:UNC119_bdg 3 201 8.7e-116 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000153115
AA Change: L96P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138031
Gene: ENSMUSG00000044768
AA Change: L96P

DomainStartEndE-ValueType
Pfam:UNC119_bdg 3 201 2.3e-119 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb8 A G 5: 24,406,464 I484V probably benign Het
Acly C T 11: 100,519,679 E158K probably benign Het
Akap3 T A 6: 126,860,263 D3E probably benign Het
Alg8 A G 7: 97,379,894 N152S possibly damaging Het
Ano7 A G 1: 93,391,490 T323A probably benign Het
Bmp1 T C 14: 70,507,549 Y252C possibly damaging Het
Cacnb3 A T 15: 98,640,961 K159* probably null Het
Capns2 T A 8: 92,902,062 V193D probably benign Het
Cct2 A G 10: 117,053,139 I48T probably benign Het
Cep152 A G 2: 125,594,956 S555P probably damaging Het
Col5a3 T C 9: 20,772,361 E1533G unknown Het
Cyp17a1 A G 19: 46,667,497 L451P probably damaging Het
Dgcr8 T C 16: 18,280,306 E407G possibly damaging Het
Dhx57 T A 17: 80,255,571 N876Y probably damaging Het
Dnah7b T A 1: 46,099,503 L235* probably null Het
Fgfr2 A G 7: 130,242,606 Y50H probably damaging Het
Gars T A 6: 55,048,064 probably benign Het
Gfpt2 A T 11: 49,807,703 I42F probably benign Het
Glcci1 A G 6: 8,558,581 K35E probably damaging Het
Gpatch1 T A 7: 35,307,255 M163L probably damaging Het
Gpr132 T C 12: 112,852,855 Y117C probably damaging Het
Ints1 G A 5: 139,768,468 P650S probably damaging Het
Itga2b T C 11: 102,461,363 D464G probably damaging Het
Kansl2 C A 15: 98,529,446 G185C probably damaging Het
Kat6b T A 14: 21,637,593 M570K probably damaging Het
Map3k19 T A 1: 127,823,769 D615V possibly damaging Het
Map3k7cl A G 16: 87,556,013 probably benign Het
Msto1 A C 3: 88,910,898 S360R possibly damaging Het
Myo15b C A 11: 115,863,105 probably benign Het
Nhlrc2 T C 19: 56,591,719 V428A possibly damaging Het
Olfr33 G A 7: 102,714,126 R96C probably damaging Het
Olfr348 A C 2: 36,787,046 T174P possibly damaging Het
Olfr470 A G 7: 107,845,605 S43P probably benign Het
Olfr568 A T 7: 102,877,909 Y263F probably benign Het
Olfr61 T C 7: 140,638,471 F257L probably benign Het
Olfr874 T A 9: 37,746,206 M24K probably benign Het
Pcm1 G T 8: 41,288,155 probably null Het
Plekhg3 A T 12: 76,562,300 N149I probably damaging Het
Rbp3 C A 14: 33,955,719 H541Q probably damaging Het
Rgp1 T C 4: 43,581,236 probably null Het
Scyl2 A T 10: 89,657,938 probably benign Het
Tas2r144 A C 6: 42,216,076 H250P probably benign Het
Tmppe T C 9: 114,405,200 V189A probably benign Het
Trp53bp1 G A 2: 121,199,074 S1875L probably damaging Het
Txnl4a T A 18: 80,218,729 L60H probably damaging Het
Upp2 A G 2: 58,777,886 D217G probably benign Het
Vmn2r74 A G 7: 85,952,516 L638P probably damaging Het
Vnn1 A G 10: 23,898,503 N148S possibly damaging Het
Xrcc1 C T 7: 24,567,042 Q241* probably null Het
Zfp990 A G 4: 145,530,877 probably benign Het
Other mutations in D1Ertd622e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01486:D1Ertd622e APN 1 97646006 missense probably damaging 0.99
R0577:D1Ertd622e UTSW 1 97661826 splice site probably null
R1646:D1Ertd622e UTSW 1 97645806 missense probably damaging 0.99
R3611:D1Ertd622e UTSW 1 97646334 missense probably damaging 1.00
R5270:D1Ertd622e UTSW 1 97645995 missense probably damaging 1.00
R5934:D1Ertd622e UTSW 1 97645930 missense possibly damaging 0.69
R6863:D1Ertd622e UTSW 1 97646305 missense probably benign
R7133:D1Ertd622e UTSW 1 97645920 missense probably benign 0.01
R7911:D1Ertd622e UTSW 1 97645890 missense probably damaging 0.98
R7992:D1Ertd622e UTSW 1 97645890 missense probably damaging 0.98
Posted On2015-04-16