Incidental Mutation 'R7982:Uros'
ID 651269
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 046023-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7982 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 133287972-133311801 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 133294278 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 168 (S168T)
Ref Sequence ENSEMBL: ENSMUSP00000101750 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033276] [ENSMUST00000106144] [ENSMUST00000106145] [ENSMUST00000106146]
AlphaFold P51163
Predicted Effect probably benign
Transcript: ENSMUST00000033276
SMART Domains Protein: ENSMUSP00000033276
Gene: ENSMUSG00000030979

DomainStartEndE-ValueType
Pfam:HEM4 17 253 1.2e-44 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000106144
AA Change: S168T
SMART Domains Protein: ENSMUSP00000101750
Gene: ENSMUSG00000030979
AA Change: S168T

DomainStartEndE-ValueType
Pfam:HEM4 17 168 5.1e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106145
SMART Domains Protein: ENSMUSP00000101751
Gene: ENSMUSG00000030979

DomainStartEndE-ValueType
Pfam:HEM4 17 253 2.9e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106146
SMART Domains Protein: ENSMUSP00000101752
Gene: ENSMUSG00000030979

DomainStartEndE-ValueType
Pfam:HEM4 17 253 1.2e-44 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb6 A G 1: 75,150,284 (GRCm39) S625P probably damaging Het
Actl6b A G 5: 137,561,424 (GRCm39) N142S probably benign Het
Ank1 A T 8: 23,609,397 (GRCm39) D1363V probably damaging Het
Aox4 A C 1: 58,296,400 (GRCm39) L1032F possibly damaging Het
Atosb T C 4: 43,034,483 (GRCm39) T371A probably damaging Het
Bcl2l15 T C 3: 103,740,158 (GRCm39) M4T probably damaging Het
Cand1 A T 10: 119,052,378 (GRCm39) S242R probably damaging Het
Cant1 A T 11: 118,300,968 (GRCm39) V229D probably benign Het
Ccdc117 A G 11: 5,481,460 (GRCm39) S224P possibly damaging Het
Cdc42ep4 T C 11: 113,619,402 (GRCm39) R330G possibly damaging Het
Cep164 T C 9: 45,690,162 (GRCm39) E527G probably benign Het
Cfap58 A G 19: 47,963,006 (GRCm39) D472G probably benign Het
Cln6 A C 9: 62,756,450 (GRCm39) K198T possibly damaging Het
Col4a4 G A 1: 82,549,162 (GRCm39) probably benign Het
Cyp1b1 T C 17: 80,017,919 (GRCm39) Y412C probably damaging Het
Dhx30 A T 9: 109,914,524 (GRCm39) L991Q probably damaging Het
Dst C T 1: 34,221,621 (GRCm39) T2475I possibly damaging Het
Exoc8 A T 8: 125,623,149 (GRCm39) V406E probably damaging Het
Grk6 T A 13: 55,599,519 (GRCm39) C201S probably damaging Het
Helz T C 11: 107,517,456 (GRCm39) V664A possibly damaging Het
Hsd17b11 A G 5: 104,151,090 (GRCm39) C215R possibly damaging Het
Ift25 T C 4: 107,132,480 (GRCm39) V89A probably benign Het
Kbtbd12 T C 6: 88,595,616 (GRCm39) I71M possibly damaging Het
Khdc1a A T 1: 21,421,130 (GRCm39) H105L probably benign Het
Klf6 T A 13: 5,911,822 (GRCm39) L62Q probably damaging Het
Mc1r A G 8: 124,134,879 (GRCm39) R211G probably damaging Het
Nt5m T A 11: 59,739,157 (GRCm39) W68R possibly damaging Het
Nufip1 T C 14: 76,363,679 (GRCm39) V301A probably benign Het
Or10ac1 T A 6: 42,515,225 (GRCm39) T244S probably damaging Het
Or12d14-ps1 T G 17: 37,673,502 (GRCm39) F165V probably damaging Het
Or2b7 T C 13: 21,740,136 (GRCm39) N19D probably benign Het
Or51f5 A T 7: 102,424,310 (GRCm39) D193V probably damaging Het
Or5ac25 A G 16: 59,181,927 (GRCm39) I218T probably benign Het
Ostn T C 16: 27,140,189 (GRCm39) probably null Het
Pcdhb6 C T 18: 37,467,273 (GRCm39) R65* probably null Het
Pds5b T C 5: 150,693,406 (GRCm39) I706T probably damaging Het
Pgm2 T G 5: 64,258,302 (GRCm39) Y96D probably damaging Het
Pkd1l2 G A 8: 117,777,926 (GRCm39) T875I possibly damaging Het
Poc1b A G 10: 99,000,764 (GRCm39) S355G probably benign Het
Ppp6r1 A C 7: 4,646,157 (GRCm39) D181E probably benign Het
Pstpip2 G A 18: 77,967,073 (GRCm39) V325M probably benign Het
Rras2 A T 7: 113,658,186 (GRCm39) V92D probably damaging Het
Rsf1 CGGC CGGCGGCGGGGGC 7: 97,229,139 (GRCm39) probably benign Het
Ryr3 GTCTTCTTCTTCTTCTTC GTCTTCTTCTTCTTC 2: 112,499,594 (GRCm39) probably benign Het
Stac2 T A 11: 97,933,379 (GRCm39) M188L probably benign Het
Synrg G A 11: 83,910,644 (GRCm39) D859N probably damaging Het
Tarbp1 A T 8: 127,171,040 (GRCm39) S987T probably damaging Het
Tbx20 C A 9: 24,685,220 (GRCm39) probably benign Het
Trim30d G T 7: 104,121,817 (GRCm39) N309K possibly damaging Het
Ttc16 C T 2: 32,665,047 (GRCm39) probably benign Het
Ttc34 T A 4: 154,945,875 (GRCm39) I303N possibly damaging Het
Ubr4 T C 4: 139,155,519 (GRCm39) probably null Het
Vmn2r6 C T 3: 64,467,241 (GRCm39) G86D probably damaging Het
Ybx2 C T 11: 69,831,448 (GRCm39) T295I possibly damaging Het
Zbed5 T A 5: 129,929,321 (GRCm39) C146S possibly damaging Het
Zcchc2 G A 1: 105,958,901 (GRCm39) C1124Y probably damaging Het
Zfp626 G A 7: 27,510,175 (GRCm39) probably null 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
R3722:Uros UTSW 7 133,304,120 (GRCm39) start codon destroyed probably null 1.00
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
R9257:Uros UTSW 7 133,292,853 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- TGCTCTCAACCCTAGCCTAG -3'
(R):5'- GCCCTCTCTTTGAAGGAGAG -3'

Sequencing Primer
(F):5'- CCTCCTGGGAGTGTTGCAG -3'
(R):5'- TAAAAGGCATAGGATCAAAGATGGTC -3'
Posted On 2020-09-15