Mutagenetix > Incidental Mutation

Incidental Mutation 'R1515:Umod'

168225

Institutional Source

Beutler Lab

Gene Symbol

Umod

Ensembl Gene

ENSMUSG00000030963

Gene Name

uromodulin

Synonyms

Tamm-Horsfall glycoprotein, uromucoid, Urehd1, urehr4

MMRRC Submission

039562-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R1515 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119061931-119078485 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119064720 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 592 (N592D)

Ref Sequence

ENSEMBL: ENSMUSP00000146652 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033263] [ENSMUST00000209095]

AlphaFold

Q91X17

Predicted Effect

probably benign
Transcript: ENSMUST00000033263
AA Change: N592D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000033263
Gene: ENSMUSG00000030963
AA Change: N592D

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

noncoding transcript
Transcript: ENSMUST00000208401

Predicted Effect

probably benign
Transcript: ENSMUST00000209095
AA Change: N592D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 94.4%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt2	A	G	7: 27,336,583 (GRCm39)	T401A	probably damaging	Het
Arhgap32	G	T	9: 32,027,498 (GRCm39)	V23L	probably benign	Het
Atmin	T	A	8: 117,681,579 (GRCm39)	C193S	possibly damaging	Het
Atp13a5	C	T	16: 29,152,792 (GRCm39)	V225I	probably benign	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
BC024139	A	G	15: 76,008,526 (GRCm39)	V350A	possibly damaging	Het
Birc6	G	T	17: 74,835,631 (GRCm39)	E29*	probably null	Het
Bnc2	T	C	4: 84,332,563 (GRCm39)	N104S	probably null	Het
C030048H21Rik	T	C	2: 26,147,515 (GRCm39)		probably null	Het
Cd320	G	T	17: 34,066,613 (GRCm39)	C117F	probably damaging	Het
Cdkal1	A	G	13: 29,510,133 (GRCm39)	S542P	probably damaging	Het
Crocc	T	C	4: 140,747,048 (GRCm39)	T1587A	probably benign	Het
Defb41	T	C	1: 18,330,817 (GRCm39)		probably null	Het
Dmtf1	A	G	5: 9,190,384 (GRCm39)		probably null	Het
Dnhd1	A	G	7: 105,353,355 (GRCm39)	N2836S	probably benign	Het
Dpp8	G	A	9: 64,986,030 (GRCm39)	S840N	probably benign	Het
Dsc2	A	G	18: 20,167,758 (GRCm39)	F111L	probably damaging	Het
Dsc2	T	A	18: 20,178,622 (GRCm39)	I261F	probably benign	Het
Ece1	T	C	4: 137,678,819 (GRCm39)	V509A	probably benign	Het
Ecm2	T	C	13: 49,671,808 (GRCm39)	M103T	possibly damaging	Het
Emsy	T	C	7: 98,240,063 (GRCm39)	H1064R	probably damaging	Het
Engase	T	C	11: 118,377,966 (GRCm39)	V252A	possibly damaging	Het
F13b	A	G	1: 139,438,703 (GRCm39)	Y369C	probably damaging	Het
Flii	T	C	11: 60,612,432 (GRCm39)		probably null	Het
Fzd10	T	A	5: 128,679,623 (GRCm39)	F448I	probably damaging	Het
Gpr35	T	G	1: 92,910,770 (GRCm39)	F161V	probably damaging	Het
Gprin2	T	C	14: 33,917,230 (GRCm39)	D180G	possibly damaging	Het
Grik3	A	G	4: 125,564,521 (GRCm39)	N501S	probably benign	Het
Hells	A	G	19: 38,956,209 (GRCm39)	K802E	probably damaging	Het
Il1r1	T	A	1: 40,332,509 (GRCm39)	C96*	probably null	Het
Kcnk16	T	A	14: 20,315,345 (GRCm39)	I73F	probably damaging	Het
Kcnq5	A	G	1: 21,472,905 (GRCm39)	S652P	probably benign	Het
Lamc3	A	G	2: 31,830,763 (GRCm39)	D1500G	probably damaging	Het
Macf1	A	G	4: 123,272,273 (GRCm39)	F6468L	probably damaging	Het
Mgrn1	T	A	16: 4,733,644 (GRCm39)	F198I	probably benign	Het
Mmp3	A	G	9: 7,451,232 (GRCm39)	T323A	probably benign	Het
N4bp2	A	G	5: 65,947,841 (GRCm39)	Y157C	probably benign	Het
Nfkbid	C	A	7: 30,124,781 (GRCm39)	H190Q	probably benign	Het
Or10a3m	T	C	7: 108,313,148 (GRCm39)	V184A	possibly damaging	Het
Or5b118	T	C	19: 13,449,044 (GRCm39)	S237P	probably damaging	Het
Or6c75	T	C	10: 129,337,460 (GRCm39)	S236P	probably damaging	Het
Osgin2	C	T	4: 15,998,380 (GRCm39)	G414D	probably benign	Het
Pkd1	G	A	17: 24,813,827 (GRCm39)	R4097H	probably benign	Het
Pnkd	T	A	1: 74,388,968 (GRCm39)	L213Q	probably null	Het
Ppfibp1	A	G	6: 146,928,930 (GRCm39)	H850R	probably benign	Het
Ppp6r1	T	C	7: 4,646,257 (GRCm39)	D148G	probably damaging	Het
Ptprt	A	T	2: 162,079,954 (GRCm39)	S282T	probably damaging	Het
Sgsm3	T	C	15: 80,894,457 (GRCm39)	V536A	probably benign	Het
Slc22a23	T	A	13: 34,387,947 (GRCm39)	Q383L	probably benign	Het
Snx29	T	C	16: 11,217,701 (GRCm39)		probably null	Het
Tmem229b-ps	T	A	10: 53,351,542 (GRCm39)		noncoding transcript	Het
Tmod4	A	T	3: 95,035,990 (GRCm39)	Y317F	possibly damaging	Het
Trim13	T	C	14: 61,843,108 (GRCm39)	M375T	probably benign	Het
Txndc11	A	G	16: 10,892,926 (GRCm39)	S935P	probably damaging	Het
Vmn2r118	A	G	17: 55,917,643 (GRCm39)	Y290H	probably benign	Het
Vps26b	A	G	9: 26,924,041 (GRCm39)	M234T	probably damaging	Het
Zbtb48	A	G	4: 152,104,658 (GRCm39)		probably null	Het
Zfc3h1	T	A	10: 115,252,647 (GRCm39)	F1320Y	probably benign	Het
Zfp784	A	T	7: 5,039,039 (GRCm39)		probably benign	Het

Other mutations in Umod

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R5935:Umod	UTSW	7	119,070,650 (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'- AGCCCCACCTACGAGAGTTTATCC -3'
(R):5'- TGCCCTCAATAAGCTGTCAGGCTG -3'

Sequencing Primer
(F):5'- tgaatgaatgaatCCTCTACAATTGG -3'
(R):5'- ATAAGCTGTCAGGCTGGGATG -3'

Posted On

2014-04-13