Incidental Mutation 'R7230:Impdh1'
ID 574587
Institutional Source Beutler Lab
Gene Symbol Impdh1
Ensembl Gene ENSMUSG00000003500
Gene Name inosine monophosphate dehydrogenase 1
Synonyms B930086D20Rik
MMRRC Submission 045302-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.262) question?
Stock # R7230 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 29200435-29216363 bp(-) (GRCm39)
Type of Mutation splice site (3 bp from exon)
DNA Base Change (assembly) T to C at 29206062 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125077 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078155] [ENSMUST00000159124] [ENSMUST00000160749] [ENSMUST00000160878] [ENSMUST00000162099] [ENSMUST00000162215] [ENSMUST00000162739]
AlphaFold P50096
Predicted Effect probably null
Transcript: ENSMUST00000078155
SMART Domains Protein: ENSMUSP00000077289
Gene: ENSMUSG00000003500

IMPDH 28 504 6.73e-263 SMART
CBS 117 168 6.49e-10 SMART
CBS 184 232 3.37e-8 SMART
Predicted Effect probably null
Transcript: ENSMUST00000159124
SMART Domains Protein: ENSMUSP00000124931
Gene: ENSMUSG00000003500

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: ENSMUST00000160749
SMART Domains Protein: ENSMUSP00000125488
Gene: ENSMUSG00000003500

Pfam:IMPDH 28 84 3.9e-20 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000160878
SMART Domains Protein: ENSMUSP00000124269
Gene: ENSMUSG00000003500

IMPDH 28 479 2.97e-232 SMART
CBS 92 143 6.49e-10 SMART
CBS 159 207 3.37e-8 SMART
Predicted Effect probably null
Transcript: ENSMUST00000162099
SMART Domains Protein: ENSMUSP00000124541
Gene: ENSMUSG00000003500

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

IMPDH 28 231 5.75e-17 SMART
CBS 161 209 3.37e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162242
SMART Domains Protein: ENSMUSP00000123981
Gene: ENSMUSG00000003500

IMPDH 1 145 2e-11 SMART
low complexity region 165 181 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000162739
SMART Domains Protein: ENSMUSP00000125077
Gene: ENSMUSG00000003500

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (50/50)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 A C 7: 45,766,812 (GRCm39) D989E probably benign Het
Adad1 A G 3: 37,119,315 (GRCm39) Y132C probably damaging Het
Adam33 A T 2: 130,895,483 (GRCm39) C579S probably damaging Het
Adam6a A C 12: 113,509,202 (GRCm39) Q525P probably damaging Het
Alpk3 C T 7: 80,743,042 (GRCm39) P953L probably damaging Het
Arb2a G A 13: 77,907,591 (GRCm39) E5K probably damaging Het
Atat1 A G 17: 36,220,331 (GRCm39) S54P probably damaging Het
Bpgm A G 6: 34,464,502 (GRCm39) E73G possibly damaging Het
Cab39 T A 1: 85,775,880 (GRCm39) probably null Het
Ccdc162 A G 10: 41,554,809 (GRCm39) L285P probably damaging Het
Ccdc30 T C 4: 119,196,979 (GRCm39) E429G possibly damaging Het
Cct3 C T 3: 88,220,567 (GRCm39) R260W probably damaging Het
Chd1 C A 17: 15,927,199 (GRCm39) probably null Het
Cxcr4 T G 1: 128,517,527 (GRCm39) T45P probably damaging Het
Disp2 G T 2: 118,622,286 (GRCm39) R1006L probably damaging Het
Dlec1 T G 9: 118,953,606 (GRCm39) probably null Het
Dram2 T G 3: 106,480,294 (GRCm39) Y202* probably null Het
Etl4 C A 2: 20,802,799 (GRCm39) T1035K probably damaging Het
F5 T C 1: 164,012,522 (GRCm39) F479L probably benign Het
Frrs1l C A 4: 56,972,372 (GRCm39) G110W probably damaging Het
Gpbp1l1 T A 4: 116,445,807 (GRCm39) I303N probably damaging Het
Grik5 A G 7: 24,722,495 (GRCm39) F538S probably damaging Het
Hgsnat C A 8: 26,444,860 (GRCm39) probably null Het
Hs2st1 T C 3: 144,140,307 (GRCm39) D338G probably benign Het
Ipo9 T C 1: 135,334,496 (GRCm39) probably benign Het
Kdm4b T G 17: 56,676,155 (GRCm39) L220R probably damaging Het
Map1a T A 2: 121,131,299 (GRCm39) F705Y probably damaging Het
Med22 C T 2: 26,798,223 (GRCm39) D99N probably benign Het
Muc6 T C 7: 141,235,479 (GRCm39) Y519C probably damaging Het
Myt1l A G 12: 29,833,873 (GRCm39) I25M probably damaging Het
Ncam1 T A 9: 49,421,123 (GRCm39) I731F probably benign Het
Nlrp4f T A 13: 65,342,715 (GRCm39) H310L probably benign Het
Or2ag1b A T 7: 106,288,731 (GRCm39) M69K possibly damaging Het
Or2ag2b C A 7: 106,417,386 (GRCm39) T32K possibly damaging Het
Or4f14 T A 2: 111,742,906 (GRCm39) Y123F probably damaging Het
Or4k40 A T 2: 111,251,261 (GRCm39) F12I probably damaging Het
Prl8a6 T A 13: 27,617,021 (GRCm39) Y223F probably benign Het
Prss39 A G 1: 34,541,228 (GRCm39) D244G probably damaging Het
Ptx4 A T 17: 25,342,077 (GRCm39) Q184L possibly damaging Het
Slc26a1 A T 5: 108,819,611 (GRCm39) D545E probably damaging Het
Slc7a12 T C 3: 14,570,441 (GRCm39) S398P probably damaging Het
Slc9a4 T C 1: 40,639,931 (GRCm39) V241A probably damaging Het
Snw1 T C 12: 87,511,324 (GRCm39) D109G probably damaging Het
Syne2 T A 12: 75,980,674 (GRCm39) I1477K probably benign Het
Timd4 A T 11: 46,701,691 (GRCm39) Y18F probably benign Het
Tmprss2 A G 16: 97,379,797 (GRCm39) Y168H probably benign Het
Ttn A T 2: 76,569,044 (GRCm39) I27283K probably damaging Het
Tulp4 C T 17: 6,282,055 (GRCm39) H695Y probably damaging Het
Vasn C T 16: 4,467,486 (GRCm39) R478C probably benign Het
Zfp58 A T 13: 67,640,082 (GRCm39) C136* probably null Het
Other mutations in Impdh1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01543:Impdh1 APN 6 29,203,377 (GRCm39) missense probably damaging 0.97
IGL01642:Impdh1 APN 6 29,207,165 (GRCm39) missense possibly damaging 0.57
IGL02187:Impdh1 APN 6 29,207,086 (GRCm39) splice site probably benign
IGL02294:Impdh1 APN 6 29,205,201 (GRCm39) missense probably benign 0.19
IGL02570:Impdh1 APN 6 29,203,197 (GRCm39) missense probably damaging 1.00
IGL02858:Impdh1 APN 6 29,206,924 (GRCm39) nonsense probably null
IGL02874:Impdh1 APN 6 29,203,155 (GRCm39) missense probably damaging 1.00
steve UTSW 6 29,204,631 (GRCm39) nonsense probably null
R0089:Impdh1 UTSW 6 29,206,325 (GRCm39) missense probably benign
R0855:Impdh1 UTSW 6 29,206,971 (GRCm39) missense probably damaging 1.00
R1331:Impdh1 UTSW 6 29,206,477 (GRCm39) missense probably damaging 0.96
R1797:Impdh1 UTSW 6 29,207,168 (GRCm39) missense probably damaging 0.98
R1824:Impdh1 UTSW 6 29,205,087 (GRCm39) missense probably benign 0.08
R1981:Impdh1 UTSW 6 29,206,450 (GRCm39) missense possibly damaging 0.70
R2076:Impdh1 UTSW 6 29,205,162 (GRCm39) missense probably damaging 0.99
R3841:Impdh1 UTSW 6 29,202,768 (GRCm39) missense probably damaging 0.98
R4020:Impdh1 UTSW 6 29,202,693 (GRCm39) missense probably benign 0.01
R4415:Impdh1 UTSW 6 29,209,221 (GRCm39) missense probably damaging 1.00
R4471:Impdh1 UTSW 6 29,204,631 (GRCm39) nonsense probably null
R4777:Impdh1 UTSW 6 29,205,201 (GRCm39) missense possibly damaging 0.95
R5783:Impdh1 UTSW 6 29,206,342 (GRCm39) missense possibly damaging 0.66
R5973:Impdh1 UTSW 6 29,207,161 (GRCm39) missense probably damaging 1.00
R7512:Impdh1 UTSW 6 29,207,168 (GRCm39) missense probably benign 0.22
R8686:Impdh1 UTSW 6 29,216,214 (GRCm39) start gained probably benign
R8893:Impdh1 UTSW 6 29,216,248 (GRCm39) start gained probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-09-18