Incidental Mutation 'IGL03120:Etnppl'
ID409933
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Etnppl
Ensembl Gene ENSMUSG00000019232
Gene Nameethanolamine phosphate phospholyase
Synonyms1300019H02Rik, Agxt2l1
Accession Numbers

Genbank: NM_027907.3, NM_001163587.1; Ensembl: ENSMUST00000072271

Is this an essential gene? Probably non essential (E-score: 0.087) question?
Stock #IGL03120
Quality Score
Status
Chromosome3
Chromosomal Location130617448-130637521 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 130620692 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 73 (T73A)
Ref Sequence ENSEMBL: ENSMUSP00000129120 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072271] [ENSMUST00000163620] [ENSMUST00000166187]
Predicted Effect probably damaging
Transcript: ENSMUST00000072271
AA Change: T79A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000072121
Gene: ENSMUSG00000019232
AA Change: T79A

DomainStartEndE-ValueType
Pfam:Aminotran_3 32 373 2.6e-81 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000163620
AA Change: T73A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000129120
Gene: ENSMUSG00000019232
AA Change: T73A

DomainStartEndE-ValueType
Pfam:Aminotran_3 32 367 1.6e-73 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000166187
AA Change: T79A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000131294
Gene: ENSMUSG00000019232
AA Change: T79A

DomainStartEndE-ValueType
Pfam:Aminotran_3 26 433 1.3e-91 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172432
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199940
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110059G10Rik A G 9: 122,949,053 L42P probably benign Het
4932415D10Rik A G 10: 82,285,035 V77A possibly damaging Het
Cacna1e T C 1: 154,443,881 I1420V probably damaging Het
Corin T C 5: 72,360,689 Y263C probably damaging Het
Cyp4f15 A T 17: 32,690,764 I112F probably damaging Het
Dach1 T C 14: 97,827,789 E724G probably damaging Het
Dip2b T C 15: 100,203,127 probably benign Het
Dnah2 T A 11: 69,421,848 E4297V probably damaging Het
Dot1l A G 10: 80,786,273 probably benign Het
Endod1 C A 9: 14,357,035 V385F probably damaging Het
Frmd4b T A 6: 97,396,245 D104V possibly damaging Het
Gm884 T C 11: 103,616,975 probably benign Het
Gp5 T C 16: 30,308,198 I553V possibly damaging Het
Gpc5 A G 14: 115,370,144 E386G possibly damaging Het
Hbb-bs A G 7: 103,827,778 probably benign Het
Klra2 T A 6: 131,220,217 Y273F probably benign Het
Msto1 A T 3: 88,910,809 V366E probably damaging Het
Mtcl1 A G 17: 66,379,383 S843P probably damaging Het
Nhsl2 A G X: 102,071,333 N97S probably benign Het
Npm2 C A 14: 70,652,599 probably benign Het
Npr2 C T 4: 43,643,133 R506C probably damaging Het
Olfr661 A T 7: 104,688,402 Y129F probably benign Het
Olr1 T C 6: 129,488,935 E36G probably damaging Het
Pcdhb19 A G 18: 37,498,156 I335V probably benign Het
Pla2g6 T C 15: 79,286,860 D772G probably damaging Het
Ppfibp1 C A 6: 146,998,169 D119E probably benign Het
Prdm9 T C 17: 15,544,931 N529S probably benign Het
Rnf20 T A 4: 49,649,955 probably benign Het
Tmem132c T A 5: 127,563,384 V873E probably benign Het
Tmem2 G A 19: 21,823,843 D775N possibly damaging Het
Ttn T C 2: 76,927,084 probably null Het
Vmn2r54 A G 7: 12,615,387 I756T probably damaging Het
Other mutations in Etnppl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01784:Etnppl APN 3 130631778 missense possibly damaging 0.81
IGL02087:Etnppl APN 3 130626545 missense probably benign
IGL02524:Etnppl APN 3 130630671 unclassified probably benign
IGL03101:Etnppl APN 3 130622318 missense probably damaging 1.00
1mM(1):Etnppl UTSW 3 130628830 splice site probably benign
PIT4810001:Etnppl UTSW 3 130620714 missense probably benign 0.35
R0279:Etnppl UTSW 3 130629413 missense probably damaging 1.00
R1075:Etnppl UTSW 3 130629563 missense probably benign 0.01
R1117:Etnppl UTSW 3 130634563 missense probably benign 0.00
R1502:Etnppl UTSW 3 130628789 missense probably benign 0.01
R1581:Etnppl UTSW 3 130628744 missense possibly damaging 0.80
R1730:Etnppl UTSW 3 130620749 missense probably damaging 1.00
R1783:Etnppl UTSW 3 130620749 missense probably damaging 1.00
R1816:Etnppl UTSW 3 130634562 missense probably benign
R1855:Etnppl UTSW 3 130620722 missense probably benign 0.40
R1885:Etnppl UTSW 3 130629462 missense probably benign 0.04
R2330:Etnppl UTSW 3 130630575 missense probably damaging 1.00
R4067:Etnppl UTSW 3 130631793 missense probably damaging 1.00
R5862:Etnppl UTSW 3 130631824 missense possibly damaging 0.89
R6183:Etnppl UTSW 3 130620317 missense probably damaging 1.00
R6374:Etnppl UTSW 3 130620693 missense probably damaging 1.00
R7169:Etnppl UTSW 3 130620696 missense probably damaging 1.00
R7324:Etnppl UTSW 3 130629575 missense probably damaging 1.00
R7654:Etnppl UTSW 3 130629511 missense probably benign 0.00
Posted On2016-08-02