Incidental Mutation 'R5935:Umod'
ID 462176
Institutional Source Beutler Lab
Gene Symbol Umod
Ensembl Gene ENSMUSG00000030963
Gene Name uromodulin
Synonyms Tamm-Horsfall glycoprotein, uromucoid, Urehd1, urehr4
MMRRC Submission 044129-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R5935 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 119061931-119078485 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 119070650 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 414 (I414N)
Ref Sequence ENSEMBL: ENSMUSP00000146652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033263] [ENSMUST00000209095]
AlphaFold Q91X17
Predicted Effect probably damaging
Transcript: ENSMUST00000033263
AA Change: I414N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000033263
Gene: ENSMUSG00000030963
AA Change: I414N

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: ENSMUST00000207378
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208401
Predicted Effect probably damaging
Transcript: ENSMUST00000209095
AA Change: I414N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.4360 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 96% (92/96)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26b C G 8: 43,974,335 (GRCm39) M222I probably benign Het
Ahnak T C 19: 8,992,546 (GRCm39) V4610A possibly damaging Het
Ankrd13c C T 3: 157,653,220 (GRCm39) silent Het
Cables2 A G 2: 179,903,841 (GRCm39) probably benign Het
Cabp2 C A 19: 4,136,497 (GRCm39) A181D probably damaging Het
Camsap3 A G 8: 3,651,999 (GRCm39) D265G probably damaging Het
Cbs G T 17: 31,851,853 (GRCm39) T50N probably damaging Het
Cenpa A T 5: 30,830,381 (GRCm39) Q83L possibly damaging Het
Cit A T 5: 116,063,598 (GRCm39) probably benign Het
Ckap5 A G 2: 91,445,445 (GRCm39) E1694G possibly damaging Het
Copz1 A T 15: 103,203,197 (GRCm39) M104L probably benign Het
Crot T A 5: 9,024,192 (GRCm39) M335L probably benign Het
Ctnna2 T C 6: 77,120,904 (GRCm39) D373G probably benign Het
Ctu2 G A 8: 123,203,693 (GRCm39) probably benign Het
Cyp3a59 T A 5: 146,027,455 (GRCm39) Y75* probably null Het
Dbi A G 1: 120,048,583 (GRCm39) I21T probably benign Het
Dcun1d3 A G 7: 119,458,799 (GRCm39) S79P probably benign Het
Dock10 T A 1: 80,483,304 (GRCm39) probably benign Het
Dstyk T A 1: 132,381,875 (GRCm39) I543N probably damaging Het
Epx G T 11: 87,756,318 (GRCm39) A621E probably damaging Het
Farp2 G A 1: 93,548,367 (GRCm39) probably null Het
Gm11992 C T 11: 9,002,711 (GRCm39) P25S probably damaging Het
Grik5 A T 7: 24,758,502 (GRCm39) M307K possibly damaging Het
Hnf1b A T 11: 83,773,503 (GRCm39) N234I probably damaging Het
Htr2a A G 14: 74,882,530 (GRCm39) D172G probably damaging Het
Ifit1bl2 T C 19: 34,597,128 (GRCm39) T163A probably benign Het
Igsf10 A T 3: 59,235,578 (GRCm39) D1534E probably benign Het
Il3ra T G 14: 14,350,799 (GRCm38) V178G probably damaging Het
Itgb1 A T 8: 129,439,718 (GRCm39) K136* probably null Het
Itprid1 A T 6: 55,874,754 (GRCm39) R235* probably null Het
Lama2 T A 10: 26,891,494 (GRCm39) I2540F probably benign Het
Lrp8 C A 4: 107,714,493 (GRCm39) H622Q probably damaging Het
Lrrc2 T A 9: 110,795,629 (GRCm39) M138K probably benign Het
Lrrk2 C A 15: 91,630,034 (GRCm39) H1242N probably benign Het
Lsm11 G C 11: 45,835,445 (GRCm39) R99G probably benign Het
Mif4gd C T 11: 115,500,439 (GRCm39) V40M probably benign Het
Mpp3 A T 11: 101,916,241 (GRCm39) V37D probably damaging Het
Mre11a T A 9: 14,698,258 (GRCm39) D35E probably damaging Het
Mroh4 C A 15: 74,493,003 (GRCm39) V233F probably damaging Het
Npy2r A T 3: 82,448,068 (GRCm39) S123T possibly damaging Het
Nrip2 A G 6: 128,385,361 (GRCm39) Y264C possibly damaging Het
Obscn A G 11: 58,897,639 (GRCm39) S6639P unknown Het
Or10d4 C T 9: 39,580,386 (GRCm39) T11I probably benign Het
Or51t4 T A 7: 102,598,017 (GRCm39) F105Y probably benign Het
Osbpl5 C T 7: 143,310,695 (GRCm39) probably benign Het
Panx1 A T 9: 14,921,513 (GRCm39) Y121N probably damaging Het
Pcdhb8 A G 18: 37,489,243 (GRCm39) D307G probably damaging Het
Pde1b A G 15: 103,429,866 (GRCm39) K120E possibly damaging Het
Pdzrn4 T C 15: 92,295,255 (GRCm39) S154P probably benign Het
Ppp1r13b T C 12: 111,796,876 (GRCm39) K889R probably benign Het
Ppp4r3a T A 12: 101,017,872 (GRCm39) D439V probably damaging Het
Ptk2b A G 14: 66,411,328 (GRCm39) I401T probably damaging Het
Rab24 T C 13: 55,468,343 (GRCm39) T153A probably damaging Het
Rarb C A 14: 16,434,264 (GRCm38) A305S probably damaging Het
Rc3h2 GCC GCCC 2: 37,304,745 (GRCm39) probably null Het
Scn10a G A 9: 119,456,237 (GRCm39) T1194I probably damaging Het
Scn3a G T 2: 65,295,180 (GRCm39) N1514K probably damaging Het
Serpinb3d T C 1: 107,011,105 (GRCm39) T36A probably benign Het
Shisa5 T A 9: 108,885,751 (GRCm39) M229K possibly damaging Het
Sik2 C T 9: 50,828,431 (GRCm39) G204R probably damaging Het
Sla C T 15: 66,665,554 (GRCm39) G46E probably damaging Het
Slc35g3 A T 11: 69,652,509 (GRCm39) M1K probably null Het
Slc5a7 A T 17: 54,583,972 (GRCm39) Y439* probably null Het
Slc9a1 T C 4: 133,147,176 (GRCm39) probably benign Het
Slitrk6 T G 14: 110,987,305 (GRCm39) T801P probably benign Het
Spata31d1c T C 13: 65,184,894 (GRCm39) V812A possibly damaging Het
Spata31g1 T C 4: 42,971,465 (GRCm39) L230P probably benign Het
Spef1l G A 7: 139,556,526 (GRCm39) H154Y probably benign Het
Sphkap A C 1: 83,317,320 (GRCm39) L59R probably damaging Het
Spmip8 A T 8: 96,046,620 (GRCm39) T98S possibly damaging Het
Srsf10 C A 4: 135,583,553 (GRCm39) R6S probably damaging Het
Supt5 T A 7: 28,028,900 (GRCm39) R131S probably benign Het
Syne1 T C 10: 5,310,706 (GRCm39) probably null Het
Tet2 T A 3: 133,194,296 (GRCm39) H46L possibly damaging Het
Tnfsf4 T A 1: 161,244,819 (GRCm39) N169K probably damaging Het
Tprg1 A T 16: 25,136,011 (GRCm39) M1L possibly damaging Het
Tsen2 A G 6: 115,536,556 (GRCm39) Y104C probably damaging Het
Ttc6 A G 12: 57,720,590 (GRCm39) Y952C probably damaging Het
Usp10 G T 8: 120,673,828 (GRCm39) V398L possibly damaging Het
Vmn2r23 A T 6: 123,718,854 (GRCm39) I736F possibly damaging Het
Vmn2r65 C A 7: 84,592,869 (GRCm39) G446V probably benign Het
Wbp1l C T 19: 46,642,619 (GRCm39) R191* probably null Het
Yars2 A G 16: 16,127,335 (GRCm39) I467V probably benign Het
Ykt6 A G 11: 5,909,338 (GRCm39) E49G possibly damaging Het
Zan T A 5: 137,442,192 (GRCm39) M1907L unknown Het
Zdhhc2 T C 8: 40,917,277 (GRCm39) S225P probably damaging Het
Zfc3h1 A T 10: 115,267,262 (GRCm39) probably benign Het
Other mutations in Umod
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01151:Umod APN 7 119,076,442 (GRCm39) missense possibly damaging 0.93
IGL02527:Umod APN 7 119,068,690 (GRCm39) missense probably damaging 1.00
R0265:Umod UTSW 7 119,065,296 (GRCm39) missense probably benign 0.00
R1073:Umod UTSW 7 119,063,964 (GRCm39) missense possibly damaging 0.56
R1117:Umod UTSW 7 119,076,529 (GRCm39) missense possibly damaging 0.71
R1515:Umod UTSW 7 119,064,720 (GRCm39) missense probably benign 0.00
R1774:Umod UTSW 7 119,076,574 (GRCm39) missense possibly damaging 0.82
R1803:Umod UTSW 7 119,063,947 (GRCm39) missense probably damaging 0.96
R1864:Umod UTSW 7 119,062,478 (GRCm39) missense probably damaging 0.99
R1942:Umod UTSW 7 119,076,155 (GRCm39) missense probably damaging 1.00
R2060:Umod UTSW 7 119,075,938 (GRCm39) missense probably damaging 0.97
R2354:Umod UTSW 7 119,065,416 (GRCm39) missense probably damaging 1.00
R3015:Umod UTSW 7 119,071,763 (GRCm39) missense probably damaging 1.00
R3030:Umod UTSW 7 119,076,062 (GRCm39) missense probably benign 0.02
R4016:Umod UTSW 7 119,075,913 (GRCm39) missense possibly damaging 0.56
R4406:Umod UTSW 7 119,065,287 (GRCm39) missense probably damaging 1.00
R4446:Umod UTSW 7 119,065,279 (GRCm39) splice site probably null
R5062:Umod UTSW 7 119,071,644 (GRCm39) nonsense probably null
R5358:Umod UTSW 7 119,071,577 (GRCm39) missense probably damaging 1.00
R6045:Umod UTSW 7 119,076,046 (GRCm39) missense probably benign
R6239:Umod UTSW 7 119,076,520 (GRCm39) missense probably damaging 1.00
R7111:Umod UTSW 7 119,076,369 (GRCm39) nonsense probably null
R7168:Umod UTSW 7 119,077,549 (GRCm39) splice site probably benign
R7265:Umod UTSW 7 119,065,296 (GRCm39) missense probably benign 0.00
R7273:Umod UTSW 7 119,076,250 (GRCm39) missense probably benign 0.16
R8749:Umod UTSW 7 119,070,639 (GRCm39) missense probably benign 0.00
R8786:Umod UTSW 7 119,076,581 (GRCm39) missense possibly damaging 0.76
R8939:Umod UTSW 7 119,068,700 (GRCm39) missense probably damaging 1.00
R9320:Umod UTSW 7 119,065,355 (GRCm39) missense probably damaging 1.00
R9689:Umod UTSW 7 119,076,517 (GRCm39) missense possibly damaging 0.69
Predicted Primers PCR Primer
(F):5'- CTAAGGGTCTGAGGGTCTGAAG -3'
(R):5'- CGCCACTTCTGTTGTGACAC -3'

Sequencing Primer
(F):5'- CTGAGGGGTTAAAGACTGGGAGC -3'
(R):5'- CACTTCTGTTGTGACACAGAGACAG -3'
Posted On 2017-02-28