Incidental Mutation 'R3722:Uros'
ID 258967
Institutional Source Beutler Lab
Gene Symbol Uros
Ensembl Gene ENSMUSG00000030979
Gene Name uroporphyrinogen III synthase
Synonyms uroporphyrinogen-III synthase, hydroxymethylbilane hydrolyase (cyclizing), URO-synthase, Uros3
MMRRC Submission 040713-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3722 (G1)
Quality Score 202
Status Validated
Chromosome 7
Chromosomal Location 133287972-133311801 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to T at 133304120 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000147433 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033276] [ENSMUST00000106144] [ENSMUST00000106145] [ENSMUST00000106146] [ENSMUST00000124759] [ENSMUST00000151348] [ENSMUST00000153698] [ENSMUST00000209636]
AlphaFold P51163
Predicted Effect probably null
Transcript: ENSMUST00000033276
AA Change: M1K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000033276
Gene: ENSMUSG00000030979
AA Change: M1K

DomainStartEndE-ValueType
Pfam:HEM4 17 253 1.2e-44 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000106144
AA Change: M1K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101750
Gene: ENSMUSG00000030979
AA Change: M1K

DomainStartEndE-ValueType
Pfam:HEM4 17 168 5.1e-20 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000106145
AA Change: M1K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101751
Gene: ENSMUSG00000030979
AA Change: M1K

DomainStartEndE-ValueType
Pfam:HEM4 17 253 2.9e-45 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000106146
AA Change: M1K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101752
Gene: ENSMUSG00000030979
AA Change: M1K

DomainStartEndE-ValueType
Pfam:HEM4 17 253 1.2e-44 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000124759
AA Change: M1K

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135760
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144789
Predicted Effect probably null
Transcript: ENSMUST00000151348
AA Change: M1K

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably null
Transcript: ENSMUST00000153698
AA Change: M1K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably null
Transcript: ENSMUST00000209636
AA Change: M1K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.9558 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 98% (61/62)
MGI Phenotype FUNCTION: The protein encoded by this gene is the fourth enzyme in the heme biosynthesis pathway. It converts hydroxymethylbilane to uroporphyrinogen III, a cyclic tetrapyrrole. This enzyme is defective in the autosomal recessive disorder congenital erythropoietic porphyria. Alternate promoter usage controls cell type-specific expression, including erythroid cell-specific expression. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete embryonic lethality before implantation. Knock-in mice with sufficient residual enzymatic activity for survival display hemolytic anemia, hepatosplenomegaly, increased porphyrin level, erythruria, porphyria, and skin photosensitivity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb A T 10: 10,216,254 (GRCm39) S1485T probably benign Het
Akap9 A G 5: 4,120,351 (GRCm39) Y3589C probably damaging Het
Alkbh8 T C 9: 3,385,153 (GRCm39) Y482H probably damaging Het
Appl1 G A 14: 26,649,801 (GRCm39) T575M probably damaging Het
Arhgap21 T C 2: 20,855,102 (GRCm39) E1420G probably damaging Het
Asic3 A T 5: 24,621,997 (GRCm39) Y419F probably benign Het
Atg7 A G 6: 114,672,624 (GRCm39) Y279C probably damaging Het
Braf G A 6: 39,600,610 (GRCm39) P616L probably damaging Het
Btnl2 T C 17: 34,577,109 (GRCm39) M88T possibly damaging Het
C1rb T A 6: 124,557,620 (GRCm39) Y586N probably damaging Het
Cacna1s T C 1: 135,996,780 (GRCm39) F127S possibly damaging Het
Cd47 A G 16: 49,688,205 (GRCm39) I42V probably benign Het
Cox8b T A 7: 140,478,918 (GRCm39) K66* probably null Het
Diras2 T A 13: 52,662,059 (GRCm39) I83F probably damaging Het
Dlg2 T A 7: 91,361,008 (GRCm39) probably null Het
Dnah8 G A 17: 31,073,872 (GRCm39) R4514H probably damaging Het
Dnai1 G A 4: 41,602,615 (GRCm39) R113H probably damaging Het
Dolpp1 T C 2: 30,287,500 (GRCm39) L204P probably damaging Het
Fam170a C T 18: 50,415,271 (GRCm39) P306S probably benign Het
Fbxl12 A T 9: 20,550,268 (GRCm39) probably null Het
Fndc3a T A 14: 72,777,648 (GRCm39) I1186F probably benign Het
Gm12886 T A 4: 121,274,667 (GRCm39) D71V probably damaging Het
H3c8 T C 13: 23,719,722 (GRCm39) V36A possibly damaging Het
Ica1 A G 6: 8,659,021 (GRCm39) probably benign Het
Ighv8-11 A G 12: 115,530,771 (GRCm39) I119T possibly damaging Het
Ism1 A T 2: 139,573,931 (GRCm39) R94* probably null Het
Kbtbd11 T A 8: 15,079,118 (GRCm39) C572* probably null Het
Kcnk15 T C 2: 163,700,214 (GRCm39) L132P probably damaging Het
Lrmda T A 14: 22,077,399 (GRCm39) probably benign Het
Mei1 A G 15: 81,987,405 (GRCm39) H399R possibly damaging Het
Mrtfb C T 16: 13,203,557 (GRCm39) A201V probably damaging Het
Ncstn G A 1: 171,895,462 (GRCm39) T562M possibly damaging Het
Nudt4 A T 10: 95,385,367 (GRCm39) probably null Het
Omp T C 7: 97,794,420 (GRCm39) N69S probably benign Het
Or10d3 A C 9: 39,461,418 (GRCm39) C250G probably damaging Het
Or4a75 A T 2: 89,448,503 (GRCm39) I11N possibly damaging Het
Pak1 C T 7: 97,503,704 (GRCm39) P13L probably damaging Het
Pde4d T A 13: 110,087,866 (GRCm39) C744* probably null Het
Pelp1 T C 11: 70,289,026 (GRCm39) Y240C possibly damaging Het
Pou2f1 G C 1: 165,722,538 (GRCm39) P349R probably damaging Het
Ptprk A G 10: 28,259,619 (GRCm39) D353G probably damaging Het
Ptprs A G 17: 56,724,485 (GRCm39) F1152S probably damaging Het
Rnf135 G T 11: 80,087,743 (GRCm39) A231S probably benign Het
Rpn1 G A 6: 88,067,282 (GRCm39) probably null Het
Rreb1 T A 13: 38,131,074 (GRCm39) D1409E probably benign Het
Sipa1l2 G A 8: 126,200,323 (GRCm39) H668Y probably damaging Het
Slc35a5 A T 16: 44,967,685 (GRCm39) I138N probably damaging Het
Slc35d1 T C 4: 103,065,321 (GRCm39) K187E possibly damaging Het
Slc44a2 A T 9: 21,254,273 (GRCm39) I212F possibly damaging Het
Slc7a1 G A 5: 148,272,343 (GRCm39) R445* probably null Het
Snapc4 A G 2: 26,255,440 (GRCm39) L1028P probably benign Het
Snrnp40 C T 4: 130,262,068 (GRCm39) T152I possibly damaging Het
Spata31f1a T C 4: 42,851,472 (GRCm39) E228G probably benign Het
Spink4 T A 4: 40,929,136 (GRCm39) C54S probably damaging Het
Tex2 C T 11: 106,437,566 (GRCm39) W203* probably null Het
Tmcc1 T C 6: 116,110,783 (GRCm39) E170G possibly damaging Het
Ttc23l CT CTTGGATT 15: 10,537,648 (GRCm39) probably benign Het
Ttc23l G A 15: 10,537,652 (GRCm39) S206L probably benign Het
Ttll6 A G 11: 96,024,747 (GRCm39) N46D probably benign Het
Txk T A 5: 72,865,078 (GRCm39) K266* probably null Het
Uggt2 T C 14: 119,278,930 (GRCm39) E859G probably damaging Het
Vps13b T A 15: 35,671,528 (GRCm39) I1677N probably damaging Het
Zbtb5 A G 4: 44,994,863 (GRCm39) probably null Het
Zfp760 A G 17: 21,941,143 (GRCm39) Y106C probably damaging Het
Other mutations in Uros
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02135:Uros APN 7 133,288,734 (GRCm39) missense possibly damaging 0.87
R1960:Uros UTSW 7 133,288,735 (GRCm39) missense probably benign
R4065:Uros UTSW 7 133,304,057 (GRCm39) critical splice donor site probably null
R6577:Uros UTSW 7 133,302,569 (GRCm39) missense probably damaging 1.00
R7982:Uros UTSW 7 133,294,278 (GRCm39) missense unknown
R9257:Uros UTSW 7 133,292,853 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- ACCAGGGCTGTCTTGAAAATAAGG -3'
(R):5'- TCAGTGACAGAGGGCTTGAG -3'

Sequencing Primer
(F):5'- GGGAAGTGACGTCATATTAATCACC -3'
(R):5'- CTTGAGAAAGACCAAGCCCGTTTAG -3'
Posted On 2015-01-23