Incidental Mutation 'R5062:Umod'
ID 386688
Institutional Source Beutler Lab
Gene Symbol Umod
Ensembl Gene ENSMUSG00000030963
Gene Name uromodulin
Synonyms uromucoid, urehr4, Urehd1, Tamm-Horsfall glycoprotein
MMRRC Submission 042652-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # R5062 (G1)
Quality Score 177
Status Validated
Chromosome 7
Chromosomal Location 119462711-119479282 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 119472421 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 366 (Q366*)
Ref Sequence ENSEMBL: ENSMUSP00000146652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033263] [ENSMUST00000207261] [ENSMUST00000207460] [ENSMUST00000209095]
AlphaFold Q91X17
Predicted Effect probably null
Transcript: ENSMUST00000033263
AA Change: Q366*
SMART Domains Protein: ENSMUSP00000033263
Gene: ENSMUSG00000030963
AA Change: Q366*

EGF 31 64 4.03e-1 SMART
EGF_CA 65 106 3.81e-11 SMART
EGF_CA 107 155 4.81e-8 SMART
Blast:ZP 256 325 6e-30 BLAST
ZP 335 586 2.19e-70 SMART
low complexity region 619 634 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000207261
Predicted Effect probably benign
Transcript: ENSMUST00000207378
Predicted Effect probably benign
Transcript: ENSMUST00000207460
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207729
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208401
Predicted Effect probably null
Transcript: ENSMUST00000209095
AA Change: Q366*
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.7%
  • 20x: 90.1%
Validation Efficiency 100% (79/79)
MGI Phenotype FUNCTION: This gene encodes a glycoprotein that is the most abundant protein in mammalian urine under physiological conditions. It is synthesized in the kidney as a glycosyl-phosphatidylinositol anchored protein and released into urine as a soluble form by proteolytic cleavage. It is thought to regulate water and salt balance in the thick ascending limb of Henle and to protect against urinary tract infection and calcium oxalate crystal formation. In mouse deficiency of this gene is associated with increased susceptibility to bacterial infections and formation of calcium crystals in kidneys. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous inactivation of this gene causes renal dysfunction and increased susceptibility to bladder infection, and may lead to renal calcinosis and stone formation. Homozygotes for an ENU-induced allele exhibit renal dysfunction and alterations in ureahandling, energy, bone, and lipid metabolism. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A T 11: 110,177,066 (GRCm38) I1593N probably benign Het
Akr1b10 G T 6: 34,392,106 (GRCm38) K173N probably damaging Het
Artn A T 4: 117,927,676 (GRCm38) L3Q probably damaging Het
Asxl3 T A 18: 22,522,718 (GRCm38) S1262T possibly damaging Het
Atp6v0a4 A T 6: 38,074,183 (GRCm38) M420K probably benign Het
Bcam T A 7: 19,760,101 (GRCm38) T422S possibly damaging Het
Casp2 C T 6: 42,269,272 (GRCm38) probably benign Het
Ccdc137 A G 11: 120,462,515 (GRCm38) probably benign Het
Cd177 C A 7: 24,744,316 (GRCm38) A786S probably benign Het
Cdca4 T C 12: 112,821,863 (GRCm38) N82D probably benign Het
Clu A C 14: 65,979,728 (GRCm38) T337P probably damaging Het
Col6a3 A C 1: 90,779,352 (GRCm38) I2013S unknown Het
Cpne9 T A 6: 113,304,488 (GRCm38) M510K probably damaging Het
Cyp3a13 A C 5: 137,898,899 (GRCm38) N384K possibly damaging Het
Fam186a A C 15: 99,944,646 (GRCm38) I1239S possibly damaging Het
Fryl T C 5: 73,075,893 (GRCm38) E413G possibly damaging Het
Fscn2 A C 11: 120,366,749 (GRCm38) Y312S probably damaging Het
Fshr A T 17: 88,986,046 (GRCm38) C401* probably null Het
Glyat A C 19: 12,650,263 (GRCm38) Q74P probably damaging Het
Gm5724 A C 6: 141,767,454 (GRCm38) M67R possibly damaging Het
Gm6158 A T 14: 24,070,090 (GRCm38) noncoding transcript Het
Grm7 A G 6: 110,646,136 (GRCm38) N90S probably damaging Het
Hectd1 A T 12: 51,744,879 (GRCm38) C2536S probably damaging Het
Herc3 C T 6: 58,855,760 (GRCm38) Q137* probably null Het
Kctd3 A C 1: 188,995,693 (GRCm38) probably benign Het
Klhl30 A G 1: 91,355,578 (GRCm38) T301A probably benign Het
Klra9 T C 6: 130,179,109 (GRCm38) K228E possibly damaging Het
Lamc3 A T 2: 31,905,667 (GRCm38) T355S possibly damaging Het
Lcmt1 A C 7: 123,410,830 (GRCm38) probably null Het
Limch1 C T 5: 66,969,235 (GRCm38) P60S probably damaging Het
Lrfn2 A G 17: 49,070,500 (GRCm38) D203G probably damaging Het
Mc5r T C 18: 68,339,281 (GRCm38) L237P probably damaging Het
Mknk2 G A 10: 80,671,769 (GRCm38) R58W probably damaging Het
Mrgpra2b T C 7: 47,502,928 (GRCm38) probably benign Het
Mroh2a GCCC GC 1: 88,232,257 (GRCm38) probably null Het
Nae1 A T 8: 104,516,702 (GRCm38) C395S possibly damaging Het
Ncoa1 A G 12: 4,259,333 (GRCm38) M1321T probably damaging Het
Neb A C 2: 52,280,501 (GRCm38) F1720V possibly damaging Het
Nectin2 C T 7: 19,738,273 (GRCm38) V64I probably benign Het
Nisch T A 14: 31,172,440 (GRCm38) T1145S probably damaging Het
Nlrp5 A T 7: 23,435,910 (GRCm38) R1009* probably null Het
Olfr103 A T 17: 37,336,931 (GRCm38) H100Q probably damaging Het
Olfr727 T A 14: 50,127,437 (GRCm38) Y287N probably damaging Het
Otx1 C A 11: 21,997,037 (GRCm38) A91S probably damaging Het
Pak1ip1 A G 13: 41,008,145 (GRCm38) probably benign Het
Pcm1 T C 8: 41,259,260 (GRCm38) V189A probably damaging Het
Peak1 G T 9: 56,260,289 (GRCm38) N118K probably damaging Het
Phgdh T A 3: 98,328,339 (GRCm38) I121F probably damaging Het
Pi4ka G T 16: 17,309,397 (GRCm38) A1064E probably benign Het
Pkhd1 A C 1: 20,585,711 (GRCm38) C199W probably benign Het
Plat A G 8: 22,772,311 (GRCm38) D117G probably benign Het
Ppp2r2b C A 18: 42,688,461 (GRCm38) V211L possibly damaging Het
Ptgs1 A G 2: 36,237,282 (GRCm38) D60G probably damaging Het
Ryr2 T C 13: 11,700,354 (GRCm38) E2776G probably damaging Het
Sema4c C T 1: 36,552,978 (GRCm38) probably null Het
Sharpin T C 15: 76,347,611 (GRCm38) probably benign Het
Slamf6 A G 1: 171,936,533 (GRCm38) I164M possibly damaging Het
Spef1 A G 2: 131,173,281 (GRCm38) Y46H probably damaging Het
Spns1 G A 7: 126,374,329 (GRCm38) probably benign Het
Supt5 C T 7: 28,329,015 (GRCm38) probably null Het
Tbx5 T A 5: 119,836,922 (GRCm38) D3E probably damaging Het
Thbs1 T C 2: 118,121,237 (GRCm38) probably null Het
Tmem140 G A 6: 34,872,962 (GRCm38) V138M probably damaging Het
Tmem200a T A 10: 25,993,915 (GRCm38) D152V probably damaging Het
Tmem200b A G 4: 131,922,537 (GRCm38) D256G probably damaging Het
Tns1 A T 1: 73,952,864 (GRCm38) L885Q probably damaging Het
Vsir A G 10: 60,364,263 (GRCm38) I208V probably damaging Het
Zfp646 G A 7: 127,880,499 (GRCm38) R616H probably damaging Het
Other mutations in Umod
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01151:Umod APN 7 119,477,219 (GRCm38) missense possibly damaging 0.93
IGL02527:Umod APN 7 119,469,467 (GRCm38) missense probably damaging 1.00
R0265:Umod UTSW 7 119,466,073 (GRCm38) missense probably benign 0.00
R1073:Umod UTSW 7 119,464,741 (GRCm38) missense possibly damaging 0.56
R1117:Umod UTSW 7 119,477,306 (GRCm38) missense possibly damaging 0.71
R1515:Umod UTSW 7 119,465,497 (GRCm38) missense probably benign 0.00
R1774:Umod UTSW 7 119,477,351 (GRCm38) missense possibly damaging 0.82
R1803:Umod UTSW 7 119,464,724 (GRCm38) missense probably damaging 0.96
R1864:Umod UTSW 7 119,463,255 (GRCm38) missense probably damaging 0.99
R1942:Umod UTSW 7 119,476,932 (GRCm38) missense probably damaging 1.00
R2060:Umod UTSW 7 119,476,715 (GRCm38) missense probably damaging 0.97
R2354:Umod UTSW 7 119,466,193 (GRCm38) missense probably damaging 1.00
R3015:Umod UTSW 7 119,472,540 (GRCm38) missense probably damaging 1.00
R3030:Umod UTSW 7 119,476,839 (GRCm38) missense probably benign 0.02
R4016:Umod UTSW 7 119,476,690 (GRCm38) missense possibly damaging 0.56
R4406:Umod UTSW 7 119,466,064 (GRCm38) missense probably damaging 1.00
R4446:Umod UTSW 7 119,466,056 (GRCm38) splice site probably null
R5358:Umod UTSW 7 119,472,354 (GRCm38) missense probably damaging 1.00
R5935:Umod UTSW 7 119,471,427 (GRCm38) missense probably damaging 1.00
R6045:Umod UTSW 7 119,476,823 (GRCm38) missense probably benign
R6239:Umod UTSW 7 119,477,297 (GRCm38) missense probably damaging 1.00
R7111:Umod UTSW 7 119,477,146 (GRCm38) nonsense probably null
R7168:Umod UTSW 7 119,478,326 (GRCm38) splice site probably benign
R7265:Umod UTSW 7 119,466,073 (GRCm38) missense probably benign 0.00
R7273:Umod UTSW 7 119,477,027 (GRCm38) missense probably benign 0.16
R8749:Umod UTSW 7 119,471,416 (GRCm38) missense probably benign 0.00
R8786:Umod UTSW 7 119,477,358 (GRCm38) missense possibly damaging 0.76
R8939:Umod UTSW 7 119,469,477 (GRCm38) missense probably damaging 1.00
R9320:Umod UTSW 7 119,466,132 (GRCm38) missense probably damaging 1.00
R9689:Umod UTSW 7 119,477,294 (GRCm38) missense possibly damaging 0.69
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-06-06