Incidental Mutation 'R7982:Uros'
ID651269
Institutional Source Beutler Lab
Gene Symbol Uros
Ensembl Gene ENSMUSG00000030979
Gene Nameuroporphyrinogen III synthase
Synonymshydroxymethylbilane hydrolyase (cyclizing), URO-synthase, uroporphyrinogen-III synthase, Uros3
MMRRC Submission
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R7982 (G1)
Quality Score225.009
Status Not validated
Chromosome7
Chromosomal Location133686243-133710072 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 133692549 bp
ZygosityHeterozygous
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]
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: 75,173,640 S625P probably damaging Het
Actl6b A G 5: 137,563,162 N142S probably benign Het
Ank1 A T 8: 23,119,381 D1363V probably damaging Het
Aox4 A C 1: 58,257,241 L1032F possibly damaging Het
Bcl2l15 T C 3: 103,832,842 M4T probably damaging Het
Cand1 A T 10: 119,216,473 S242R probably damaging Het
Cant1 A T 11: 118,410,142 V229D probably benign Het
Ccdc117 A G 11: 5,531,460 S224P possibly damaging Het
Cdc42ep4 T C 11: 113,728,576 R330G possibly damaging Het
Cep164 T C 9: 45,778,864 E527G probably benign Het
Cfap58 A G 19: 47,974,567 D472G probably benign Het
Cln6 A C 9: 62,849,168 K198T possibly damaging Het
Col4a4 G A 1: 82,571,441 probably benign Het
Cyp1b1 T C 17: 79,710,490 Y412C probably damaging Het
Dhx30 A T 9: 110,085,456 L991Q probably damaging Het
Dst C T 1: 34,182,540 T2475I possibly damaging Het
Exoc8 A T 8: 124,896,410 V406E probably damaging Het
Fam214b T C 4: 43,034,483 T371A probably damaging Het
Grk6 T A 13: 55,451,706 C201S probably damaging Het
Helz T C 11: 107,626,630 V664A possibly damaging Het
Hsd17b11 A G 5: 104,003,224 C215R possibly damaging Het
Hspb11 T C 4: 107,275,283 V89A probably benign Het
Kbtbd12 T C 6: 88,618,634 I71M possibly damaging Het
Khdc1a A T 1: 21,350,906 H105L probably benign Het
Klf6 T A 13: 5,861,823 L62Q probably damaging Het
Mc1r A G 8: 123,408,140 R211G probably damaging Het
Nt5m T A 11: 59,848,331 W68R possibly damaging Het
Nufip1 T C 14: 76,126,239 V301A probably benign Het
Olfr104-ps T G 17: 37,362,611 F165V probably damaging Het
Olfr1535 T C 13: 21,555,966 N19D probably benign Het
Olfr209 A G 16: 59,361,564 I218T probably benign Het
Olfr455 T A 6: 42,538,291 T244S probably damaging Het
Olfr561 A T 7: 102,775,103 D193V probably damaging Het
Ostn T C 16: 27,321,439 probably null Het
Pcdhb6 C T 18: 37,334,220 R65* probably null Het
Pds5b T C 5: 150,769,941 I706T probably damaging Het
Pgm1 T G 5: 64,100,959 Y96D probably damaging Het
Pkd1l2 G A 8: 117,051,187 T875I possibly damaging Het
Poc1b A G 10: 99,164,902 S355G probably benign Het
Ppp6r1 A C 7: 4,643,158 D181E probably benign Het
Pstpip2 G A 18: 77,879,373 V325M probably benign Het
Rras2 A T 7: 114,058,951 V92D probably damaging Het
Rsf1 CGGC CGGCGGCGGGGGC 7: 97,579,932 probably benign Het
Ryr3 GTCTTCTTCTTCTTCTTC GTCTTCTTCTTCTTC 2: 112,669,249 probably benign Het
Stac2 T A 11: 98,042,553 M188L probably benign Het
Synrg G A 11: 84,019,818 D859N probably damaging Het
Tarbp1 A T 8: 126,444,301 S987T probably damaging Het
Tbx20 C A 9: 24,773,924 probably benign Het
Trim30d G T 7: 104,472,610 N309K possibly damaging Het
Ttc16 C T 2: 32,775,035 probably benign Het
Ttc34 T A 4: 154,861,418 I303N possibly damaging Het
Ubr4 T C 4: 139,428,208 probably null Het
Vmn2r6 C T 3: 64,559,820 G86D probably damaging Het
Ybx2 C T 11: 69,940,622 T295I possibly damaging Het
Zbed5 T A 5: 129,900,480 C146S possibly damaging Het
Zcchc2 G A 1: 106,031,171 C1124Y probably damaging Het
Zfp626 G A 7: 27,810,750 probably null Het
Other mutations in Uros
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02135:Uros APN 7 133687005 missense possibly damaging 0.87
R1960:Uros UTSW 7 133687006 missense probably benign
R3722:Uros UTSW 7 133702391 start codon destroyed probably null 1.00
R4065:Uros UTSW 7 133702328 critical splice donor site probably null
R6577:Uros UTSW 7 133700840 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCTCTCAACCCTAGCCTAG -3'
(R):5'- GCCCTCTCTTTGAAGGAGAG -3'

Sequencing Primer
(F):5'- CCTCCTGGGAGTGTTGCAG -3'
(R):5'- TAAAAGGCATAGGATCAAAGATGGTC -3'
Posted On2020-09-15