Incidental Mutation 'IGL01151:Umod'
ID51677
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Umod
Ensembl Gene ENSMUSG00000030963
Gene Nameuromodulin
Synonymsuromucoid, urehr4, Urehd1, Tamm-Horsfall glycoprotein
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.110) question?
Stock #IGL01151
Quality Score
Status
Chromosome7
Chromosomal Location119462711-119479282 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 119477219 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 108 (V108A)
Ref Sequence ENSEMBL: ENSMUSP00000146652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033263] [ENSMUST00000207261] [ENSMUST00000207460] [ENSMUST00000209095]
Predicted Effect possibly damaging
Transcript: ENSMUST00000033263
AA Change: V108A

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000033263
Gene: ENSMUSG00000030963
AA Change: V108A

DomainStartEndE-ValueType
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
AA Change: V108A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207729
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208401
Predicted Effect possibly damaging
Transcript: ENSMUST00000209095
AA Change: V108A

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
Coding Region Coverage
Validation Efficiency
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T C 13: 81,405,399 Q5452R probably benign Het
Ankrd42 A G 7: 92,605,200 probably benign Het
Camk2g T C 14: 20,765,959 D157G probably damaging Het
Cd55b A T 1: 130,422,906 V18E possibly damaging Het
Ep300 T A 15: 81,623,472 probably benign Het
Fbxw26 A G 9: 109,721,780 V393A possibly damaging Het
Fkbp4 T C 6: 128,435,791 T59A probably benign Het
Gbp5 T C 3: 142,500,594 L13P probably damaging Het
Gpr161 G T 1: 165,321,509 L482F probably damaging Het
Il6st T A 13: 112,493,651 S344T probably benign Het
Itpr3 T G 17: 27,091,529 F429V probably damaging Het
Kbtbd11 G T 8: 15,029,176 D592Y probably damaging Het
Magi3 C A 3: 104,051,374 G465V probably damaging Het
Naip6 T A 13: 100,299,093 Y974F probably benign Het
Nek1 A G 8: 61,020,077 Y169C probably damaging Het
Nos1ap A T 1: 170,589,276 I30N probably damaging Het
Obox5 T C 7: 15,758,591 I157T possibly damaging Het
Olfr1130 A T 2: 87,607,979 D197V probably damaging Het
Pcdhb10 T A 18: 37,412,195 I108N probably damaging Het
Pgf A G 12: 85,171,736 L80P probably damaging Het
Rpgrip1l A G 8: 91,275,149 L459P probably damaging Het
Slc9a1 A T 4: 133,411,989 I173F probably damaging Het
Taf15 T C 11: 83,487,371 S146P possibly damaging Het
Tedc1 C T 12: 113,163,188 R357* probably null Het
Thumpd1 C T 7: 119,718,195 R161Q probably damaging Het
Tjp2 A G 19: 24,138,810 I5T possibly damaging Het
Usp38 A T 8: 81,013,840 S199R probably damaging Het
Vmn2r73 T A 7: 85,857,878 Y742F probably damaging Het
Other mutations in Umod
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02527:Umod APN 7 119469467 missense probably damaging 1.00
R0265:Umod UTSW 7 119466073 missense probably benign 0.00
R1073:Umod UTSW 7 119464741 missense possibly damaging 0.56
R1117:Umod UTSW 7 119477306 missense possibly damaging 0.71
R1515:Umod UTSW 7 119465497 missense probably benign 0.00
R1774:Umod UTSW 7 119477351 missense possibly damaging 0.82
R1803:Umod UTSW 7 119464724 missense probably damaging 0.96
R1864:Umod UTSW 7 119463255 missense probably damaging 0.99
R1942:Umod UTSW 7 119476932 missense probably damaging 1.00
R2060:Umod UTSW 7 119476715 missense probably damaging 0.97
R2354:Umod UTSW 7 119466193 missense probably damaging 1.00
R3015:Umod UTSW 7 119472540 missense probably damaging 1.00
R3030:Umod UTSW 7 119476839 missense probably benign 0.02
R4016:Umod UTSW 7 119476690 missense possibly damaging 0.56
R4406:Umod UTSW 7 119466064 missense probably damaging 1.00
R4446:Umod UTSW 7 119466056 splice site probably null
R5062:Umod UTSW 7 119472421 nonsense probably null
R5358:Umod UTSW 7 119472354 missense probably damaging 1.00
R5935:Umod UTSW 7 119471427 missense probably damaging 1.00
R6045:Umod UTSW 7 119476823 missense probably benign
R6239:Umod UTSW 7 119477297 missense probably damaging 1.00
R7111:Umod UTSW 7 119477146 nonsense probably null
R7168:Umod UTSW 7 119478326 splice site probably benign
R7265:Umod UTSW 7 119466073 missense probably benign 0.00
R7273:Umod UTSW 7 119477027 missense probably benign 0.16
Posted On2013-06-21