Mutagenetix > Incidental Mutation

Incidental Mutation 'R5062:Umod'

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

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*

Domain	Start	End	E-Value	Type
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

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
(F):5'- GTCAGGTCGAACAACTCACTC -3'
(R):5'- CTTAAGCCCAGTGACCATGC -3'

Sequencing Primer
(F):5'- CTCAAAGCTCATACAAGTGGTG -3'
(R):5'- AGTGACCATGCTGTGCTC -3'

Posted On

2016-06-06