Incidental Mutation 'R4777:Impdh1'
ID 368011
Institutional Source Beutler Lab
Gene Symbol Impdh1
Ensembl Gene ENSMUSG00000003500
Gene Name inosine monophosphate dehydrogenase 1
Synonyms B930086D20Rik
MMRRC Submission 041992-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.262) question?
Stock # R4777 (G1)
Quality Score 219
Status Not validated
Chromosome 6
Chromosomal Location 29200435-29216363 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 29205201 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 200 (A200E)
Ref Sequence ENSEMBL: ENSMUSP00000125235 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078155] [ENSMUST00000159124] [ENSMUST00000160749] [ENSMUST00000160878] [ENSMUST00000162215] [ENSMUST00000162099] [ENSMUST00000162739]
AlphaFold P50096
Predicted Effect possibly damaging
Transcript: ENSMUST00000078155
AA Change: A223E

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000077289
Gene: ENSMUSG00000003500
AA Change: A223E

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 possibly damaging
Transcript: ENSMUST00000159124
AA Change: A223E

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000124931
Gene: ENSMUSG00000003500
AA Change: A223E

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 possibly damaging
Transcript: ENSMUST00000160878
AA Change: A198E

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000124269
Gene: ENSMUSG00000003500
AA Change: A198E

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 possibly damaging
Transcript: ENSMUST00000162215
AA Change: A200E

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000125235
Gene: ENSMUSG00000003500
AA Change: A200E

DomainStartEndE-ValueType
IMPDH 28 231 5.75e-17 SMART
CBS 161 209 3.37e-8 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000162099
AA Change: A223E

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000124541
Gene: ENSMUSG00000003500
AA Change: A223E

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 possibly damaging
Transcript: ENSMUST00000162739
AA Change: A247E

PolyPhen 2 Score 0.575 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000125077
Gene: ENSMUSG00000003500
AA Change: A247E

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
Predicted Effect probably benign
Transcript: ENSMUST00000162242
SMART Domains Protein: ENSMUSP00000123981
Gene: ENSMUSG00000003500

DomainStartEndE-ValueType
IMPDH 1 145 2e-11 SMART
low complexity region 165 181 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.7%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A C 3: 137,771,503 (GRCm39) S231R probably benign Het
5730455P16Rik A T 11: 80,265,041 (GRCm39) I137N probably damaging Het
Abhd10 G A 16: 45,557,279 (GRCm39) Q176* probably null Het
Acer3 T C 7: 97,910,804 (GRCm39) Y86C probably damaging Het
Ankrd36 T C 11: 5,557,120 (GRCm39) V356A probably benign Het
Atp1a1 A G 3: 101,502,312 (GRCm39) probably null Het
Bmp8b G A 4: 123,015,793 (GRCm39) R260Q possibly damaging Het
C2cd3 T A 7: 100,065,539 (GRCm39) V775D possibly damaging Het
Cacna1b T A 2: 24,622,337 (GRCm39) I216F probably damaging Het
Capn5 T A 7: 97,780,925 (GRCm39) N284I probably damaging Het
Cbr1 C A 16: 93,406,942 (GRCm39) D219E probably benign Het
Cdca2 C T 14: 67,950,589 (GRCm39) R114Q probably damaging Het
Cdh20 G A 1: 109,922,055 (GRCm39) W49* probably null Het
Cep152 C T 2: 125,406,015 (GRCm39) V1506I probably benign Het
Cfap97 C T 8: 46,648,334 (GRCm39) Q537* probably null Het
Cpsf2 T A 12: 101,963,091 (GRCm39) V385E probably damaging Het
Dse A G 10: 34,029,584 (GRCm39) V502A possibly damaging Het
Fam171a1 T A 2: 3,224,550 (GRCm39) F300L probably benign Het
Fnip1 T G 11: 54,391,382 (GRCm39) N438K probably damaging Het
Fstl5 C T 3: 76,500,807 (GRCm39) T412M probably damaging Het
Gm11938 T A 11: 99,494,059 (GRCm39) Q12L unknown Het
Hcls1 G T 16: 36,775,678 (GRCm39) A171S probably damaging Het
Hcn1 ACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ACAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC 13: 118,112,269 (GRCm39) probably benign Het
Hydin G T 8: 111,137,096 (GRCm39) C633F probably damaging Het
Ica1 A T 6: 8,644,145 (GRCm39) D381E probably benign Het
Ift74 A G 4: 94,541,234 (GRCm39) K220E probably benign Het
Igfn1 A T 1: 135,882,600 (GRCm39) D2748E probably benign Het
Il16 A C 7: 83,300,104 (GRCm39) D396E probably benign Het
Itga4 C T 2: 79,144,054 (GRCm39) T647I possibly damaging Het
Jpt1 A T 11: 115,391,497 (GRCm39) M104K probably benign Het
Krt73 C A 15: 101,702,436 (GRCm39) A476S probably benign Het
Lama3 T C 18: 12,546,828 (GRCm39) Y363H probably damaging Het
Lgr4 C T 2: 109,827,027 (GRCm39) P177L probably damaging Het
Lrp2 T C 2: 69,312,608 (GRCm39) D2560G probably damaging Het
Ly6m T C 15: 74,752,532 (GRCm39) N48S probably benign Het
Macf1 A T 4: 123,270,295 (GRCm39) F6617I probably damaging Het
Mcf2l T A 8: 13,068,051 (GRCm39) probably null Het
Mcub T A 3: 129,763,600 (GRCm39) Q42L probably damaging Het
Mfsd9 C T 1: 40,820,700 (GRCm39) V150I possibly damaging Het
Myo15b T C 11: 115,770,478 (GRCm39) V96A probably damaging Het
Nfkb2 G T 19: 46,296,006 (GRCm39) E170D probably benign Het
Or10aa3 T G 1: 173,878,244 (GRCm39) Y102D probably damaging Het
Or10g6 T C 9: 39,933,994 (GRCm39) F102L possibly damaging Het
Or1r1 A G 11: 73,875,221 (GRCm39) V71A probably benign Het
Pgap6 T C 17: 26,340,515 (GRCm39) V633A probably damaging Het
Pinlyp T A 7: 24,241,568 (GRCm39) I153F possibly damaging Het
Plk2 A C 13: 110,534,307 (GRCm39) M296L probably benign Het
Plvap T C 8: 71,960,630 (GRCm39) Y262C probably benign Het
Ppfia3 C A 7: 44,990,581 (GRCm39) G1066V probably damaging Het
Prokr1 A G 6: 87,565,842 (GRCm39) M1T probably null Het
Ptgs2 G T 1: 149,981,138 (GRCm39) A474S probably benign Het
Pth2r A G 1: 65,427,676 (GRCm39) T450A possibly damaging Het
Ranbp6 A T 19: 29,789,037 (GRCm39) F438L probably damaging Het
Ripor1 A T 8: 106,341,622 (GRCm39) Q102L probably damaging Het
Rprd2 C T 3: 95,694,686 (GRCm39) V116I probably benign Het
Sacs T C 14: 61,449,258 (GRCm39) V3768A probably damaging Het
Scn8a T C 15: 100,913,832 (GRCm39) Y1075H probably damaging Het
Senp3 C T 11: 69,569,063 (GRCm39) G366D probably damaging Het
Smim1 T C 4: 154,108,107 (GRCm39) probably benign Het
Sptan1 A G 2: 29,886,447 (GRCm39) I817V probably damaging Het
Stag3 A T 5: 138,307,461 (GRCm39) probably benign Het
Stk17b A T 1: 53,810,867 (GRCm39) H79Q probably damaging Het
Svil A G 18: 5,088,813 (GRCm39) K1296E probably damaging Het
Tmem117 T A 15: 94,992,331 (GRCm39) Y330* probably null Het
Tnxb G T 17: 34,890,917 (GRCm39) R420L probably damaging Het
Trim9 C A 12: 70,393,845 (GRCm39) C33F probably damaging Het
Usp29 A C 7: 6,965,747 (GRCm39) Y530S probably benign Het
Vps26b T C 9: 26,921,752 (GRCm39) T258A possibly damaging Het
Vrtn C A 12: 84,695,600 (GRCm39) H117N probably damaging Het
Wdr33 C T 18: 32,014,301 (GRCm39) H388Y probably damaging Het
Zfp451 A T 1: 33,821,186 (GRCm39) V222D possibly damaging Het
Zfp953 A G 13: 67,491,193 (GRCm39) I253T probably benign Het
Zfy2 A G Y: 2,116,194 (GRCm39) V282A probably benign Het
Zscan29 A T 2: 120,999,805 (GRCm39) V132D probably damaging Het
Zswim4 G T 8: 84,963,586 (GRCm39) D16E probably benign 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
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
R7230:Impdh1 UTSW 6 29,206,062 (GRCm39) splice site probably null
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
(F):5'- TGAGCCTCACAAGCCTGATG -3'
(R):5'- TTCCTGATCTCTGGGAAGAGG -3'

Sequencing Primer
(F):5'- GCCACCTCCTTACTAGTACTATG -3'
(R):5'- GGAAGAGGTCCAGGTCCTG -3'
Posted On 2015-12-29