Incidental Mutation 'IGL01403:Aspdh'
ID 79728
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aspdh
Ensembl Gene ENSMUSG00000038704
Gene Name aspartate dehydrogenase domain containing
Synonyms 0610012D14Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # IGL01403
Quality Score
Status
Chromosome 7
Chromosomal Location 44114859-44117175 bp(+) (GRCm39)
Type of Mutation splice site (4 bp from exon)
DNA Base Change (assembly) A to G at 44115983 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121766 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035844] [ENSMUST00000035929] [ENSMUST00000058667] [ENSMUST00000117324] [ENSMUST00000118493] [ENSMUST00000118628] [ENSMUST00000135624] [ENSMUST00000134398] [ENSMUST00000121922] [ENSMUST00000136609] [ENSMUST00000120852] [ENSMUST00000136679] [ENSMUST00000146128] [ENSMUST00000152902] [ENSMUST00000156957] [ENSMUST00000206887] [ENSMUST00000208117]
AlphaFold Q9DCQ2
Predicted Effect probably benign
Transcript: ENSMUST00000035844
SMART Domains Protein: ENSMUSP00000048415
Gene: ENSMUSG00000038695

DomainStartEndE-ValueType
Josephin 18 176 1.47e-81 SMART
Predicted Effect probably null
Transcript: ENSMUST00000035929
SMART Domains Protein: ENSMUSP00000039202
Gene: ENSMUSG00000038704

DomainStartEndE-ValueType
Pfam:NAD_binding_3 17 128 3.8e-24 PFAM
Pfam:DUF108 174 265 2.9e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000058667
SMART Domains Protein: ENSMUSP00000053123
Gene: ENSMUSG00000047085

DomainStartEndE-ValueType
signal peptide 1 38 N/A INTRINSIC
LRRNT 58 92 5.6e-8 SMART
LRR 91 110 1.62e2 SMART
LRR 111 134 1.16e-1 SMART
LRR_TYP 135 158 8.22e-2 SMART
LRR_TYP 159 182 5.99e-4 SMART
LRR 208 229 1.62e2 SMART
LRR_TYP 230 253 3.63e-3 SMART
LRR 254 277 9.75e0 SMART
LRR_TYP 278 301 5.29e-5 SMART
LRRCT 313 364 1.92e-3 SMART
IGc2 378 445 1.45e-9 SMART
low complexity region 462 482 N/A INTRINSIC
low complexity region 528 547 N/A INTRINSIC
transmembrane domain 573 595 N/A INTRINSIC
low complexity region 596 607 N/A INTRINSIC
low complexity region 624 644 N/A INTRINSIC
low complexity region 673 686 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000117324
SMART Domains Protein: ENSMUSP00000113313
Gene: ENSMUSG00000038695

DomainStartEndE-ValueType
Josephin 18 176 1.47e-81 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000118493
SMART Domains Protein: ENSMUSP00000113226
Gene: ENSMUSG00000038695

DomainStartEndE-ValueType
Josephin 18 176 1.47e-81 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000118628
SMART Domains Protein: ENSMUSP00000113172
Gene: ENSMUSG00000038695

DomainStartEndE-ValueType
Josephin 18 176 1.47e-81 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133801
Predicted Effect probably null
Transcript: ENSMUST00000135624
Predicted Effect probably benign
Transcript: ENSMUST00000134398
Predicted Effect probably benign
Transcript: ENSMUST00000139097
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130220
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133656
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131817
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132952
Predicted Effect probably benign
Transcript: ENSMUST00000121922
SMART Domains Protein: ENSMUSP00000112796
Gene: ENSMUSG00000038695

DomainStartEndE-ValueType
Josephin 18 134 7e-33 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000136609
SMART Domains Protein: ENSMUSP00000123205
Gene: ENSMUSG00000038695

DomainStartEndE-ValueType
Josephin 18 97 7.71e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000120852
SMART Domains Protein: ENSMUSP00000114105
Gene: ENSMUSG00000038695

DomainStartEndE-ValueType
Josephin 18 176 1.47e-81 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000136679
SMART Domains Protein: ENSMUSP00000114900
Gene: ENSMUSG00000038695

DomainStartEndE-ValueType
Pfam:Josephin 18 61 3.6e-11 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000146128
SMART Domains Protein: ENSMUSP00000119474
Gene: ENSMUSG00000038704

DomainStartEndE-ValueType
Pfam:NAD_binding_3 5 110 1e-19 PFAM
Pfam:DUF108 153 252 7.5e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152902
Predicted Effect probably null
Transcript: ENSMUST00000156957
SMART Domains Protein: ENSMUSP00000121766
Gene: ENSMUSG00000038704

DomainStartEndE-ValueType
Pfam:DUF108 52 151 2.6e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000206887
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184821
Predicted Effect probably benign
Transcript: ENSMUST00000208117
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206210
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149341
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155659
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207591
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A T 12: 118,836,602 (GRCm39) L1103Q probably damaging Het
Adam12 T A 7: 133,521,339 (GRCm39) Q605L probably benign Het
Adk A G 14: 21,284,983 (GRCm39) K102R probably damaging Het
Afdn C T 17: 14,124,132 (GRCm39) P1761S probably damaging Het
Ascc1 A G 10: 59,848,280 (GRCm39) probably benign Het
Bbx T C 16: 50,022,876 (GRCm39) I753V probably benign Het
Ccdc33 T C 9: 58,024,668 (GRCm39) Y186C probably damaging Het
Ccdc78 T A 17: 26,007,218 (GRCm39) probably null Het
Ckmt1 T C 2: 121,193,447 (GRCm39) probably benign Het
Csf1r A G 18: 61,247,897 (GRCm39) T322A probably benign Het
Dnah7b T C 1: 46,155,460 (GRCm39) probably benign Het
Dr1 A G 5: 108,417,576 (GRCm39) N41D possibly damaging Het
Ehmt1 G A 2: 24,729,638 (GRCm39) T633I possibly damaging Het
Fgf7 T A 2: 125,877,860 (GRCm39) Y76N probably damaging Het
Hmcn1 A T 1: 150,468,848 (GRCm39) W5038R probably damaging Het
Ighv14-1 A G 12: 113,895,862 (GRCm39) V21A probably damaging Het
Igkv5-37 T A 6: 69,940,420 (GRCm39) I75F probably damaging Het
Inhbc T A 10: 127,205,968 (GRCm39) I100F probably damaging Het
Irs3 A G 5: 137,643,581 (GRCm39) F68L probably damaging Het
Itpr3 T A 17: 27,337,569 (GRCm39) C2460S probably damaging Het
Krt34 A G 11: 99,929,116 (GRCm39) C365R possibly damaging Het
Krt81 G A 15: 101,361,269 (GRCm39) H104Y probably benign Het
Ly6g A G 15: 75,030,497 (GRCm39) N82S probably damaging Het
Mrpl58 A T 11: 115,297,404 (GRCm39) I72F probably damaging Het
Myo9a G A 9: 59,778,846 (GRCm39) R1534H probably damaging Het
Npat T A 9: 53,466,429 (GRCm39) F239L probably benign Het
Nsd2 A G 5: 34,042,722 (GRCm39) probably benign Het
Nuggc T C 14: 65,860,635 (GRCm39) V427A probably benign Het
Or52b1 G A 7: 104,978,605 (GRCm39) R265C probably benign Het
Or5p55 A G 7: 107,566,828 (GRCm39) T75A possibly damaging Het
Pde4a A T 9: 21,116,412 (GRCm39) I467F probably damaging Het
Pkhd1l1 T A 15: 44,347,229 (GRCm39) C198* probably null Het
Pla2r1 A G 2: 60,254,632 (GRCm39) V1312A probably damaging Het
Pola2 T C 19: 6,009,121 (GRCm39) H79R probably benign Het
Potefam1 T C 2: 111,059,515 (GRCm39) probably benign Het
Pramel15 A T 4: 144,103,703 (GRCm39) M141K probably benign Het
Psen2 A T 1: 180,062,548 (GRCm39) probably benign Het
Rnf213 A G 11: 119,334,126 (GRCm39) K3112E probably damaging Het
Slc6a4 G T 11: 76,922,498 (GRCm39) V630L probably benign Het
Smg1 A T 7: 117,757,355 (GRCm39) probably benign Het
Tmc8 A G 11: 117,681,900 (GRCm39) T510A possibly damaging Het
Usp18 T A 6: 121,245,627 (GRCm39) H334Q possibly damaging Het
Vmn2r103 T C 17: 20,013,229 (GRCm39) Y117H probably benign Het
Vps13b T A 15: 35,709,625 (GRCm39) D1857E probably benign Het
Other mutations in Aspdh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02967:Aspdh APN 7 44,114,963 (GRCm39) splice site probably null
R3854:Aspdh UTSW 7 44,115,613 (GRCm39) missense possibly damaging 0.93
R4751:Aspdh UTSW 7 44,116,629 (GRCm39) nonsense probably null
R6434:Aspdh UTSW 7 44,116,474 (GRCm39) missense probably damaging 1.00
R8485:Aspdh UTSW 7 44,117,093 (GRCm39) missense probably damaging 1.00
Z1177:Aspdh UTSW 7 44,114,954 (GRCm39) missense probably damaging 0.98
Posted On 2013-11-05