Mutagenetix > Incidental Mutation

Incidental Mutation 'R8786:Umod'

670638

Institutional Source

Beutler Lab

Gene Symbol

Umod

Ensembl Gene

ENSMUSG00000030963

Gene Name

uromodulin

Synonyms

Tamm-Horsfall glycoprotein, uromucoid, Urehd1, urehr4

MMRRC Submission

068632-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

R8786 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119061931-119078485 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 119076581 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 62 (V62M)

Ref Sequence

ENSEMBL: ENSMUSP00000033263 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033263] [ENSMUST00000207261] [ENSMUST00000207460] [ENSMUST00000209095]

AlphaFold

Q91X17

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033263
AA Change: V62M

PolyPhen 2 Score 0.765 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000033263
Gene: ENSMUSG00000030963
AA Change: V62M

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

possibly damaging
Transcript: ENSMUST00000207261
AA Change: V62M

PolyPhen 2 Score 0.765 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207460
AA Change: V62M

PolyPhen 2 Score 0.765 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209095
AA Change: V62M

PolyPhen 2 Score 0.765 (Sensitivity: 0.85; Specificity: 0.92)

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (72/72)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl4	A	T	3: 95,592,784 (GRCm39)	M1K	probably null	Het
Atg2a	G	T	19: 6,294,460 (GRCm39)	V59L	probably damaging	Het
Atxn7	C	A	14: 14,103,316 (GRCm38)	T888K	possibly damaging	Het
Btbd9	T	C	17: 30,749,144 (GRCm39)	R57G	probably damaging	Het
Catspere2	T	A	1: 177,843,362 (GRCm39)		probably benign	Het
Catspere2	G	A	1: 177,843,555 (GRCm39)		probably benign	Het
Ccdc9b	C	A	2: 118,587,732 (GRCm39)	S534I	unknown	Het
Crp	T	C	1: 172,526,293 (GRCm39)	V126A	probably benign	Het
Csf1r	A	T	18: 61,247,942 (GRCm39)	T337S	probably damaging	Het
Dcaf12	T	C	4: 41,296,439 (GRCm39)	N299S	probably damaging	Het
Dcaf17	T	C	2: 70,917,744 (GRCm39)		probably null	Het
Dip2c	A	G	13: 9,665,830 (GRCm39)	D985G	probably damaging	Het
Dtna	A	G	18: 23,716,190 (GRCm39)	T138A	probably benign	Het
Emid1	T	C	11: 5,081,517 (GRCm39)	D212G	probably benign	Het
Epyc	G	A	10: 97,511,525 (GRCm39)	D173N	probably damaging	Het
Fanci	A	G	7: 79,052,298 (GRCm39)	D162G	probably benign	Het
Firrm	A	T	1: 163,792,040 (GRCm39)	L626Q	probably damaging	Het
Fry	T	C	5: 150,317,501 (GRCm39)	V827A	probably benign	Het
Ggps1	T	C	13: 14,228,505 (GRCm39)	E226G	probably benign	Het
Gopc	G	A	10: 52,230,750 (GRCm39)	R183*	probably null	Het
Grik4	C	T	9: 42,453,130 (GRCm39)	G752S	probably damaging	Het
H2-D1	T	A	17: 35,482,844 (GRCm39)	C125S	probably damaging	Het
H2-Q1	T	A	17: 35,539,869 (GRCm39)	V46D	probably damaging	Het
Hsd17b3	T	C	13: 64,219,862 (GRCm39)	N126S	probably damaging	Het
Igsf10	G	A	3: 59,238,063 (GRCm39)	T706I	probably benign	Het
Kmt2e	A	G	5: 23,669,864 (GRCm39)	D117G	probably damaging	Het
Kmt5a	C	T	5: 124,584,074 (GRCm39)	A18V	probably benign	Het
Krtap29-1	C	T	11: 99,869,465 (GRCm39)	G139R	probably damaging	Het
Lama5	T	C	2: 179,838,100 (GRCm39)	Y872C	probably damaging	Het
Lrriq4	T	A	3: 30,704,752 (GRCm39)	M260K	probably benign	Het
Map2	G	A	1: 66,472,755 (GRCm39)		probably benign	Het
Mrpl51	C	T	6: 125,169,340 (GRCm39)	A8V	probably benign	Het
Ndufs3	T	C	2: 90,732,778 (GRCm39)	T103A	probably benign	Het
Numa1	T	G	7: 101,647,616 (GRCm39)	L449R	probably benign	Het
Or10g3b	C	T	14: 52,587,021 (GRCm39)	A161T	possibly damaging	Het
Pan3	C	T	5: 147,424,951 (GRCm39)	P295S	possibly damaging	Het
Pds5b	T	C	5: 150,704,134 (GRCm39)	S846P	probably damaging	Het
Phf2	A	T	13: 48,967,219 (GRCm39)	M712K	unknown	Het
Phlda2	A	T	7: 143,056,211 (GRCm39)	V6E	probably benign	Het
Pkdrej	C	A	15: 85,704,044 (GRCm39)	A631S	probably benign	Het
Plcd3	G	T	11: 102,962,569 (GRCm39)	N627K	probably damaging	Het
Prpf6	T	C	2: 181,262,415 (GRCm39)	I138T	possibly damaging	Het
Psd4	G	A	2: 24,295,444 (GRCm39)	S866N	probably benign	Het
Ptprb	A	C	10: 116,155,306 (GRCm39)	T400P	probably benign	Het
Rxfp1	T	C	3: 79,570,677 (GRCm39)		probably null	Het
Sbf2	A	G	7: 110,063,793 (GRCm39)		probably null	Het
Serpinb9h	G	A	13: 33,588,204 (GRCm39)	R263H	probably benign	Het
Setd4	C	T	16: 93,390,162 (GRCm39)	R89Q	probably benign	Het
Sgpp1	A	G	12: 75,763,152 (GRCm39)	I343T	probably benign	Het
Sh2b2	T	C	5: 136,260,658 (GRCm39)	D186G	probably benign	Het
Slc12a4	A	T	8: 106,680,549 (GRCm39)	I191N	probably damaging	Het
Slc4a4	A	T	5: 89,232,549 (GRCm39)	D251V	probably benign	Het
Slc6a5	A	T	7: 49,561,843 (GRCm39)	D125V	possibly damaging	Het
Slf1	T	A	13: 77,274,806 (GRCm39)	I16F	possibly damaging	Het
Sncaip	T	C	18: 53,031,334 (GRCm39)	V521A	probably damaging	Het
Spmip10	T	C	18: 56,727,568 (GRCm39)	F89L	probably damaging	Het
Stx19	T	C	16: 62,642,775 (GRCm39)	L197P	probably damaging	Het
Sucla2	A	G	14: 73,797,905 (GRCm39)	N39D	probably benign	Het
Sult1d1	T	A	5: 87,712,575 (GRCm39)	T90S	probably benign	Het
Syna	C	T	5: 134,588,723 (GRCm39)	M75I	probably benign	Het
Tas2r138	A	G	6: 40,589,611 (GRCm39)	S212P	probably damaging	Het
Tdrd3	T	A	14: 87,709,637 (GRCm39)	C106*	probably null	Het
Tlk2	C	T	11: 105,172,059 (GRCm39)	A743V	unknown	Het
Tlr3	T	C	8: 45,851,286 (GRCm39)	D537G	possibly damaging	Het
Tmc1	A	G	19: 20,803,953 (GRCm39)	Y375H	probably damaging	Het
Tsen54	T	A	11: 115,711,498 (GRCm39)	M305K	probably damaging	Het
Vmn1r10	A	G	6: 57,091,010 (GRCm39)	T201A	probably benign	Het
Vmn1r103	T	C	7: 20,243,676 (GRCm39)	T262A	probably benign	Het
Vmn2r100	T	C	17: 19,742,838 (GRCm39)	V404A	probably damaging	Het
Vmn2r56	A	G	7: 12,449,393 (GRCm39)	F282L	probably damaging	Het
Wdr64	A	T	1: 175,636,327 (GRCm39)	K982*	probably null	Het
Xpo6	A	T	7: 125,712,127 (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
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
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
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'- AGTCGCCTTCTGTGTTGACAC -3'
(R):5'- GGTGCCAACAACTTAACAAGTC -3'

Sequencing Primer
(F):5'- CCAGGGCATGACAGTTACTG -3'
(R):5'- ACTTAACAAGTCCAGAAAAGCAAG -3'

Posted On

2021-04-30