Incidental Mutation 'IGL02874:Impdh1'
ID362643
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Impdh1
Ensembl Gene ENSMUSG00000003500
Gene Nameinosine monophosphate dehydrogenase 1
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.302) question?
Stock #IGL02874
Quality Score
Status
Chromosome6
Chromosomal Location29200434-29216364 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 29203156 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 389 (M389K)
Ref Sequence ENSEMBL: ENSMUSP00000124269 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078155] [ENSMUST00000159124] [ENSMUST00000160749] [ENSMUST00000160878] [ENSMUST00000162099] [ENSMUST00000162215] [ENSMUST00000162739]
Predicted Effect probably damaging
Transcript: ENSMUST00000078155
AA Change: M414K

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000077289
Gene: ENSMUSG00000003500
AA Change: M414K

DomainStartEndE-ValueType
IMPDH 28 504 6.73e-263 SMART
CBS 117 168 6.49e-10 SMART
CBS 184 232 3.37e-8 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000159124
AA Change: M414K

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000124931
Gene: ENSMUSG00000003500
AA Change: M414K

DomainStartEndE-ValueType
IMPDH 28 504 6.73e-263 SMART
CBS 117 168 6.49e-10 SMART
CBS 184 232 3.37e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160613
Predicted Effect probably benign
Transcript: ENSMUST00000160749
SMART Domains Protein: ENSMUSP00000125488
Gene: ENSMUSG00000003500

DomainStartEndE-ValueType
Pfam:IMPDH 28 84 3.9e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000160878
AA Change: M389K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124269
Gene: ENSMUSG00000003500
AA Change: M389K

DomainStartEndE-ValueType
IMPDH 28 479 2.97e-232 SMART
CBS 92 143 6.49e-10 SMART
CBS 159 207 3.37e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161654
Predicted Effect probably damaging
Transcript: ENSMUST00000162099
AA Change: M414K

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000124541
Gene: ENSMUSG00000003500
AA Change: M414K

DomainStartEndE-ValueType
IMPDH 28 504 6.73e-263 SMART
CBS 117 168 6.49e-10 SMART
CBS 184 232 3.37e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162215
SMART Domains Protein: ENSMUSP00000125235
Gene: ENSMUSG00000003500

DomainStartEndE-ValueType
IMPDH 28 231 5.75e-17 SMART
CBS 161 209 3.37e-8 SMART
Predicted Effect unknown
Transcript: ENSMUST00000162242
AA Change: M54K
SMART Domains Protein: ENSMUSP00000123981
Gene: ENSMUSG00000003500
AA Change: M54K

DomainStartEndE-ValueType
IMPDH 1 145 2e-11 SMART
low complexity region 165 181 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000162739
AA Change: M438K
SMART Domains Protein: ENSMUSP00000125077
Gene: ENSMUSG00000003500
AA Change: M438K

DomainStartEndE-ValueType
low complexity region 8 22 N/A INTRINSIC
low complexity region 32 61 N/A INTRINSIC
IMPDH 86 558 2e-256 SMART
CBS 171 222 6.49e-10 SMART
CBS 238 286 3.37e-8 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene acts as a homotetramer to regulate cell growth. The encoded protein is an enzyme that catalyzes the synthesis of xanthine monophosphate (XMP) from inosine-5'-monophosphate (IMP). This is the rate-limiting step in the de novo synthesis of guanine nucleotides. Defects in this gene are a cause of retinitis pigmentosa type 10 (RP10). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
PHENOTYPE: Mic homozygous for disruptions of this gene display abnormalities in T cell proliferation. Mice homozygous for an ENU-induced mutation exhibit reduced thickness of the outer nuclear layer and total retina thickness. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp8a2 A G 14: 59,802,252 Y876H probably damaging Het
Cfap65 G A 1: 74,911,108 Q1161* probably null Het
Chrd C T 16: 20,735,196 T282I probably damaging Het
Clasp1 T C 1: 118,552,043 S749P possibly damaging Het
Clec4a3 T A 6: 122,967,560 N188K probably benign Het
Dmpk A G 7: 19,087,001 M181V possibly damaging Het
Dnah7a A T 1: 53,605,814 M1021K possibly damaging Het
Exoc5 A T 14: 49,051,446 N48K probably benign Het
Golga1 A G 2: 39,039,092 L338P probably damaging Het
Hdc T A 2: 126,601,676 T334S probably benign Het
Idh2 A G 7: 80,097,873 S300P probably damaging Het
Igkv4-78 T C 6: 69,060,206 I7V probably benign Het
Kcnd2 T A 6: 21,216,923 C209S probably damaging Het
Olfr661 C A 7: 104,688,023 Q3K probably benign Het
Olfr735 A T 14: 50,346,126 H105Q probably damaging Het
Olfr741 G T 14: 50,486,229 C257F possibly damaging Het
Ovol1 T C 19: 5,551,181 K194R probably damaging Het
Pcdh17 A T 14: 84,448,240 I716F possibly damaging Het
Pck1 T C 2: 173,155,249 I228T probably damaging Het
Pla2g2a T C 4: 138,834,848 F132L probably benign Het
Prex1 A G 2: 166,585,047 V1086A probably damaging Het
Rasd2 T C 8: 75,218,699 I52T probably damaging Het
Robo1 T C 16: 73,012,918 Y1185H probably damaging Het
Sema6c T G 3: 95,170,377 V441G probably damaging Het
Slc9a4 A T 1: 40,584,038 M146L probably benign Het
Thsd4 C T 9: 60,252,730 V358I probably damaging Het
Ttbk1 T C 17: 46,470,225 E474G probably benign Het
Ttbk2 T A 2: 120,745,712 D928V probably damaging Het
Ttn C T 2: 76,811,178 G11779S probably damaging Het
Wfdc6b T C 2: 164,617,448 probably null Het
Other mutations in Impdh1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01543:Impdh1 APN 6 29203378 missense probably damaging 0.97
IGL01642:Impdh1 APN 6 29207166 missense possibly damaging 0.57
IGL02187:Impdh1 APN 6 29207087 splice site probably benign
IGL02294:Impdh1 APN 6 29205202 missense probably benign 0.19
IGL02570:Impdh1 APN 6 29203198 missense probably damaging 1.00
IGL02858:Impdh1 APN 6 29206925 nonsense probably null
steve UTSW 6 29204632 nonsense probably null
R0089:Impdh1 UTSW 6 29206326 missense probably benign
R0855:Impdh1 UTSW 6 29206972 missense probably damaging 1.00
R1331:Impdh1 UTSW 6 29206478 missense probably damaging 0.96
R1797:Impdh1 UTSW 6 29207169 missense probably damaging 0.98
R1824:Impdh1 UTSW 6 29205088 missense probably benign 0.08
R1981:Impdh1 UTSW 6 29206451 missense possibly damaging 0.70
R2076:Impdh1 UTSW 6 29205163 missense probably damaging 0.99
R3841:Impdh1 UTSW 6 29202769 missense probably damaging 0.98
R4020:Impdh1 UTSW 6 29202694 missense probably benign 0.01
R4415:Impdh1 UTSW 6 29209222 missense probably damaging 1.00
R4471:Impdh1 UTSW 6 29204632 nonsense probably null
R4777:Impdh1 UTSW 6 29205202 missense possibly damaging 0.95
R5783:Impdh1 UTSW 6 29206343 missense possibly damaging 0.66
R5973:Impdh1 UTSW 6 29207162 missense probably damaging 1.00
R7230:Impdh1 UTSW 6 29206063 splice site probably null
R7512:Impdh1 UTSW 6 29207169 missense probably benign 0.22
Posted On2015-12-18