Incidental Mutation 'IGL02967:Aspdh'
ID365683
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aspdh
Ensembl Gene ENSMUSG00000038704
Gene Nameaspartate dehydrogenase domain containing
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.084) question?
Stock #IGL02967
Quality Score
Status
Chromosome7
Chromosomal Location44465391-44467758 bp(+) (GRCm38)
Type of Mutationunclassified (4132 bp from exon)
DNA Base Change (assembly) A to G at 44465539 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119374 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035844] [ENSMUST00000035929] [ENSMUST00000035929] [ENSMUST00000035929] [ENSMUST00000058667] [ENSMUST00000117324] [ENSMUST00000118493] [ENSMUST00000118628] [ENSMUST00000120852] [ENSMUST00000121922] [ENSMUST00000127790] [ENSMUST00000134398] [ENSMUST00000135624] [ENSMUST00000136609] [ENSMUST00000136679] [ENSMUST00000146128] [ENSMUST00000152902] [ENSMUST00000156093] [ENSMUST00000156957] [ENSMUST00000206887] [ENSMUST00000208117]
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 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 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 null
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 probably benign
Transcript: ENSMUST00000120852
SMART Domains Protein: ENSMUSP00000114105
Gene: ENSMUSG00000038695

DomainStartEndE-ValueType
Josephin 18 176 1.47e-81 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000121922
SMART Domains Protein: ENSMUSP00000112796
Gene: ENSMUSG00000038695

DomainStartEndE-ValueType
Josephin 18 134 7e-33 SMART
Predicted Effect probably null
Transcript: ENSMUST00000127790
SMART Domains Protein: ENSMUSP00000123389
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
Blast:LRR 183 207 2e-6 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130220
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131817
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132952
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133656
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133801
Predicted Effect probably benign
Transcript: ENSMUST00000134398
Predicted Effect probably null
Transcript: ENSMUST00000135624
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: ENSMUST00000136679
SMART Domains Protein: ENSMUSP00000114900
Gene: ENSMUSG00000038695

DomainStartEndE-ValueType
Pfam:Josephin 18 61 3.6e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139097
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 noncoding transcript
Transcript: ENSMUST00000149341
Predicted Effect probably benign
Transcript: ENSMUST00000152902
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155659
Predicted Effect probably null
Transcript: ENSMUST00000156093
SMART Domains Protein: ENSMUSP00000119374
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
Blast:LRR 183 207 2e-6 BLAST
LRR 208 230 3.65e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000156957
SMART Domains Protein: ENSMUSP00000121766
Gene: ENSMUSG00000038704

DomainStartEndE-ValueType
Pfam:DUF108 52 151 2.6e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184821
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206210
Predicted Effect probably benign
Transcript: ENSMUST00000206887
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207591
Predicted Effect probably benign
Transcript: ENSMUST00000208117
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,378,291 T3455A probably damaging Het
Abca8a G A 11: 110,050,936 P1169L probably damaging Het
Ablim3 T A 18: 61,826,503 K272* probably null Het
Acin1 A G 14: 54,642,753 V574A possibly damaging Het
Acot4 A T 12: 84,043,461 I311L probably benign Het
Akap9 C T 5: 3,976,164 A1273V probably benign Het
Ap1g2 T A 14: 55,105,022 probably benign Het
Apob A T 12: 8,015,366 K4112* probably null Het
Atf7ip T C 6: 136,606,727 I1252T probably damaging Het
Avpr1a A G 10: 122,449,462 T220A possibly damaging Het
Bdp1 A G 13: 100,042,270 F1856S possibly damaging Het
Btbd11 A G 10: 85,633,782 T856A probably benign Het
Cit A T 5: 115,945,837 N743I probably benign Het
Clvs2 T C 10: 33,595,788 K174E probably damaging Het
Cyp4f40 A T 17: 32,674,248 Q351L probably damaging Het
Dmbt1 G T 7: 131,071,189 V550L possibly damaging Het
Edem1 T G 6: 108,836,777 S178A probably damaging Het
Fam222b C T 11: 78,154,108 A165V probably benign Het
Fer T C 17: 63,896,267 V64A possibly damaging Het
Fggy T G 4: 95,926,749 F535C possibly damaging Het
Fkbp15 A T 4: 62,304,390 S1091T probably damaging Het
Fstl5 G A 3: 76,322,191 V100M probably damaging Het
Fut7 G T 2: 25,425,143 V91L probably damaging Het
Gemin4 A T 11: 76,212,241 C565S probably damaging Het
Gzmm C T 10: 79,695,063 T233I possibly damaging Het
Hps5 A T 7: 46,769,380 L789Q possibly damaging Het
Krt32 G A 11: 100,084,050 S357F possibly damaging Het
Lrig2 C T 3: 104,494,196 probably benign Het
Lrp8 C A 4: 107,861,234 Q678K probably benign Het
Mmp27 C A 9: 7,571,590 Q45K probably benign Het
Myh1 A G 11: 67,209,070 D602G possibly damaging Het
Ncoa1 G T 12: 4,295,294 H684Q probably damaging Het
Nol9 T C 4: 152,041,102 V170A possibly damaging Het
Notch2 A G 3: 98,146,144 D2041G probably damaging Het
Nrg3 G T 14: 38,668,299 probably benign Het
Nuak1 T A 10: 84,440,221 H46L probably damaging Het
Pdzd2 G T 15: 12,374,341 Q1903K probably benign Het
Pik3c2g T C 6: 139,967,828 V616A probably damaging Het
Ppp6c A G 2: 39,226,217 Y9H probably damaging Het
Prdm11 A T 2: 93,012,889 F75Y probably damaging Het
Prelid1 G A 13: 55,324,406 V132I probably benign Het
Prom1 A G 5: 44,044,398 S227P probably damaging Het
Psmb5 G A 14: 54,616,626 R132C probably benign Het
Pus10 A G 11: 23,718,602 N360D probably damaging Het
Pygm G A 19: 6,393,838 V610M probably damaging Het
Setd1a A G 7: 127,785,177 probably benign Het
Sfmbt1 T A 14: 30,816,802 W793R probably damaging Het
Slc25a4 A G 8: 46,209,150 L157P probably damaging Het
Sost T G 11: 101,964,258 E75A possibly damaging Het
Tdrd9 A G 12: 111,992,488 S119G possibly damaging Het
Tepsin A G 11: 120,094,128 I238T probably benign Het
Tfr2 T A 5: 137,582,819 L507* probably null Het
Tmem106a T C 11: 101,586,295 I110T possibly damaging Het
Tmem38a A T 8: 72,586,082 D298V possibly damaging Het
Tmprss12 A T 15: 100,285,381 R201S probably benign Het
Ugt2b36 T C 5: 87,090,900 T271A possibly damaging Het
Virma T G 4: 11,514,096 V650G probably benign Het
Vmn1r220 A T 13: 23,183,992 I178N probably damaging Het
Zfp609 A G 9: 65,697,619 S1276P possibly damaging Het
Zfp809 A G 9: 22,235,102 Y29C probably damaging Het
Other mutations in Aspdh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01403:Aspdh APN 7 44466559 splice site probably null
R3854:Aspdh UTSW 7 44466189 missense possibly damaging 0.93
R4751:Aspdh UTSW 7 44467205 nonsense probably null
R6434:Aspdh UTSW 7 44467050 missense probably damaging 1.00
Posted On2015-12-18