Incidental Mutation 'IGL01868:Amdhd2'
ID 178588
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Amdhd2
Ensembl Gene ENSMUSG00000036820
Gene Name amidohydrolase domain containing 2
Synonyms 5730457F11Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.900) question?
Stock # IGL01868
Quality Score
Status
Chromosome 17
Chromosomal Location 24374807-24382740 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 24376504 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 346 (T346K)
Ref Sequence ENSEMBL: ENSMUSP00000036141 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040735] [ENSMUST00000129523]
AlphaFold Q8JZV7
Predicted Effect probably damaging
Transcript: ENSMUST00000040735
AA Change: T346K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000036141
Gene: ENSMUSG00000036820
AA Change: T346K

DomainStartEndE-ValueType
Pfam:Amidohydro_1 62 401 7.2e-18 PFAM
Pfam:Amidohydro_3 327 404 5.3e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129523
SMART Domains Protein: ENSMUSP00000120520
Gene: ENSMUSG00000036820

DomainStartEndE-ValueType
Pfam:Amidohydro_5 1 71 1.5e-7 PFAM
Pfam:Amidohydro_4 22 176 2.5e-9 PFAM
Pfam:Amidohydro_1 27 134 2.7e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130520
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131766
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132944
Predicted Effect unknown
Transcript: ENSMUST00000138685
AA Change: T21K
SMART Domains Protein: ENSMUSP00000122523
Gene: ENSMUSG00000036820
AA Change: T21K

DomainStartEndE-ValueType
Pfam:Amidohydro_1 5 57 1.1e-7 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 G A 18: 67,547,218 (GRCm39) T569M possibly damaging Het
Aldh1l1 A T 6: 90,560,212 (GRCm39) K620* probably null Het
Arhgap44 T C 11: 64,902,904 (GRCm39) D521G probably damaging Het
Ccdc146 C A 5: 21,538,052 (GRCm39) A91S probably damaging Het
Ccdc187 C A 2: 26,170,960 (GRCm39) R506L probably benign Het
Cd37 T C 7: 44,885,603 (GRCm39) Q128R probably benign Het
Cdh22 T A 2: 164,999,278 (GRCm39) M185L probably damaging Het
Cib2 A T 9: 54,455,759 (GRCm39) N68K probably damaging Het
Ddx46 C T 13: 55,787,683 (GRCm39) R96* probably null Het
Dnajc13 A T 9: 104,039,944 (GRCm39) H2050Q possibly damaging Het
Drgx C A 14: 32,330,334 (GRCm39) F150L probably damaging Het
Duox1 A G 2: 122,168,888 (GRCm39) H1172R probably benign Het
Eftud2 C T 11: 102,759,953 (GRCm39) V132I probably benign Het
Fcrl5 G A 3: 87,351,014 (GRCm39) D87N possibly damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm5862 A C 5: 26,227,769 (GRCm39) W41G probably benign Het
Kat6a T C 8: 23,416,471 (GRCm39) F660L probably damaging Het
Lipo2 T C 19: 33,708,238 (GRCm39) M259V probably benign Het
Lrrcc1 T A 3: 14,619,417 (GRCm39) L90* probably null Het
Lsm1 G A 8: 26,283,821 (GRCm39) probably null Het
Luzp1 T C 4: 136,270,048 (GRCm39) I757T probably damaging Het
Micall1 A G 15: 78,999,260 (GRCm39) I76V probably benign Het
Mmp21 A T 7: 133,277,643 (GRCm39) D394E probably damaging Het
Mtfr1l T C 4: 134,258,018 (GRCm39) D68G probably null Het
Necab2 A G 8: 120,189,315 (GRCm39) S162G probably benign Het
Or11a4 A T 17: 37,536,043 (GRCm39) Q9L probably benign Het
Or4c100 T C 2: 88,356,059 (GRCm39) V44A possibly damaging Het
Or51b17 G A 7: 103,542,583 (GRCm39) R120* probably null Het
Or6n1 C T 1: 173,916,936 (GRCm39) T110I possibly damaging Het
Pde7b A T 10: 20,282,911 (GRCm39) C376* probably null Het
Pira12 G A 7: 3,900,174 (GRCm39) Q143* probably null Het
Plcb2 A G 2: 118,540,071 (GRCm39) L1074P probably damaging Het
Plcb2 G T 2: 118,541,868 (GRCm39) T914N probably benign Het
Prph C A 15: 98,954,224 (GRCm39) D207E probably damaging Het
Rbp4 C A 19: 38,112,968 (GRCm39) R37L probably damaging Het
Ryr3 T C 2: 112,633,503 (GRCm39) probably benign Het
Sardh T G 2: 27,117,159 (GRCm39) Q496P probably benign Het
Serpina1f T A 12: 103,659,704 (GRCm39) N193Y probably benign Het
Slc10a7 G A 8: 79,423,965 (GRCm39) probably null Het
Spg7 T C 8: 123,816,975 (GRCm39) probably null Het
Sphkap T C 1: 83,258,120 (GRCm39) probably null Het
Tas2r121 T A 6: 132,677,235 (GRCm39) I246L probably benign Het
Tbc1d9b T C 11: 50,052,460 (GRCm39) F889S probably damaging Het
Tcp10a T C 17: 7,597,263 (GRCm39) M140T possibly damaging Het
Tctn2 G A 5: 124,754,591 (GRCm39) noncoding transcript Het
Tfap2b G T 1: 19,284,506 (GRCm39) R138L probably damaging Het
Tnrc18 T C 5: 142,757,567 (GRCm39) T985A unknown Het
Treml1 G A 17: 48,673,035 (GRCm39) V211I probably benign Het
Ubr4 C T 4: 139,139,989 (GRCm39) Q1191* probably null Het
Vim G A 2: 13,583,249 (GRCm39) R217H possibly damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r77 A G 7: 86,452,224 (GRCm39) D468G probably benign Het
Vmn2r98 G T 17: 19,286,548 (GRCm39) V349F probably benign Het
Vwa7 A T 17: 35,240,235 (GRCm39) E401V probably null Het
Zfp119b C A 17: 56,246,866 (GRCm39) V75L possibly damaging Het
Zfp287 C T 11: 62,606,083 (GRCm39) E275K probably benign Het
Other mutations in Amdhd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01546:Amdhd2 APN 17 24,382,574 (GRCm39) missense probably benign 0.38
IGL02889:Amdhd2 APN 17 24,376,761 (GRCm39) missense probably damaging 1.00
IGL03127:Amdhd2 APN 17 24,376,712 (GRCm39) critical splice donor site probably null
R0619:Amdhd2 UTSW 17 24,375,562 (GRCm39) missense possibly damaging 0.65
R0759:Amdhd2 UTSW 17 24,380,587 (GRCm39) missense probably benign 0.02
R0970:Amdhd2 UTSW 17 24,375,544 (GRCm39) critical splice donor site probably null
R1657:Amdhd2 UTSW 17 24,375,029 (GRCm39) missense probably damaging 1.00
R1929:Amdhd2 UTSW 17 24,376,860 (GRCm39) splice site probably null
R2080:Amdhd2 UTSW 17 24,375,578 (GRCm39) missense probably benign 0.00
R2127:Amdhd2 UTSW 17 24,377,282 (GRCm39) critical splice donor site probably null
R2871:Amdhd2 UTSW 17 24,376,829 (GRCm39) unclassified probably benign
R4419:Amdhd2 UTSW 17 24,377,652 (GRCm39) missense probably benign 0.31
R5681:Amdhd2 UTSW 17 24,375,014 (GRCm39) missense probably damaging 1.00
R6315:Amdhd2 UTSW 17 24,377,330 (GRCm39) missense probably benign 0.00
R6413:Amdhd2 UTSW 17 24,377,290 (GRCm39) missense probably damaging 1.00
R7402:Amdhd2 UTSW 17 24,380,657 (GRCm39) missense
R8276:Amdhd2 UTSW 17 24,382,574 (GRCm39) missense probably damaging 0.98
R8831:Amdhd2 UTSW 17 24,376,712 (GRCm39) critical splice donor site probably null
R9327:Amdhd2 UTSW 17 24,377,421 (GRCm39) missense probably benign 0.01
Posted On 2014-05-07