Mutagenetix > Incidental Mutation

Incidental Mutation 'R9320:Umod'

706095

Institutional Source

Beutler Lab

Gene Symbol

Umod

Ensembl Gene

ENSMUSG00000030963

Gene Name

uromodulin

Synonyms

Tamm-Horsfall glycoprotein, uromucoid, Urehd1, urehr4

Accession Numbers

Essential gene?

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

Stock #

R9320 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

119061931-119078485 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 119065355 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 558 (G558E)

Ref Sequence

ENSEMBL: ENSMUSP00000033263 (fasta)

Gene Model

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

AlphaFold

Q91X17

Predicted Effect

probably damaging
Transcript: ENSMUST00000033263
AA Change: G558E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000033263
Gene: ENSMUSG00000030963
AA Change: G558E

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 damaging
Transcript: ENSMUST00000209095
AA Change: G558E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	C	7: 120,139,320 (GRCm39)	Y1451H	probably damaging	Het
Abca7	T	A	10: 79,833,471 (GRCm39)	M8K	possibly damaging	Het
Ablim3	C	A	18: 61,972,805 (GRCm39)	R238L	probably damaging	Het
Adar	T	A	3: 89,658,368 (GRCm39)	Y1141*	probably null	Het
Arid2	T	C	15: 96,269,067 (GRCm39)	I1060T	probably damaging	Het
Armc2	A	T	10: 41,839,774 (GRCm39)	V397D	possibly damaging	Het
Astn2	A	G	4: 66,322,386 (GRCm39)	V71A	unknown	Het
Bcat2	A	G	7: 45,234,542 (GRCm39)	D141G	probably damaging	Het
Bicdl1	C	A	5: 115,862,769 (GRCm39)	R162L	probably damaging	Het
Btbd17	A	G	11: 114,684,910 (GRCm39)	I43T	possibly damaging	Het
C2cd5	A	T	6: 142,977,019 (GRCm39)	C698*	probably null	Het
Calr	T	A	8: 85,572,629 (GRCm39)	K87*	probably null	Het
Cap2	C	T	13: 46,768,818 (GRCm39)	T208I	probably benign	Het
Col14a1	A	T	15: 55,364,780 (GRCm39)	M1630L	probably benign	Het
Copg1	T	G	6: 87,887,072 (GRCm39)	S816A	possibly damaging	Het
Csf2ra	C	A	19: 61,215,280 (GRCm39)	A112S	possibly damaging	Het
Cwc27	T	A	13: 104,933,799 (GRCm39)	H241L	probably benign	Het
Dgki	T	A	6: 36,892,422 (GRCm39)	E852V	probably damaging	Het
Dpp6	T	C	5: 27,868,521 (GRCm39)		probably null	Het
Dynlrb1	T	C	2: 155,089,860 (GRCm39)		probably null	Het
Ehhadh	C	T	16: 21,592,281 (GRCm39)	V141I	probably benign	Het
Esyt3	A	G	9: 99,194,044 (GRCm39)	L865P	probably damaging	Het
Fam83h	T	A	15: 75,873,924 (GRCm39)	T1138S	possibly damaging	Het
Fzd4	T	C	7: 89,056,912 (GRCm39)	W320R	probably damaging	Het
Gimap7	A	T	6: 48,701,260 (GRCm39)	K282M	probably benign	Het
Gnai2	G	A	9: 107,492,913 (GRCm39)	T330I		Het
Gpr107	T	C	2: 31,078,728 (GRCm39)	S388P	possibly damaging	Het
Il1a	T	G	2: 129,142,654 (GRCm39)	M264L	probably benign	Het
Ints10	A	T	8: 69,279,951 (GRCm39)	I693F	probably damaging	Het
Jak3	A	T	8: 72,134,265 (GRCm39)	N456Y	probably benign	Het
Krcc1	A	G	6: 71,261,457 (GRCm39)	E163G	probably benign	Het
Lctl	A	G	9: 64,040,455 (GRCm39)	Y466C	probably damaging	Het
Lrp12	A	T	15: 39,741,357 (GRCm39)	S472T	probably damaging	Het
Lrp1b	A	G	2: 41,335,111 (GRCm39)		probably null	Het
Lrriq1	T	A	10: 103,057,144 (GRCm39)	M219L	probably benign	Het
Mbl2	T	A	19: 30,216,741 (GRCm39)	D184E	probably damaging	Het
Mrgpra9	G	A	7: 46,885,392 (GRCm39)	R92C	probably benign	Het
Mroh4	G	A	15: 74,483,405 (GRCm39)	T644I	probably damaging	Het
Muc5ac	C	T	7: 141,369,255 (GRCm39)	A3114V	probably benign	Het
Myh11	T	A	16: 14,029,152 (GRCm39)	M1197L		Het
Naga	C	T	15: 82,221,084 (GRCm39)	G71S	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Nsd3	A	G	8: 26,199,088 (GRCm39)		probably null	Het
Nsun6	T	C	2: 15,047,048 (GRCm39)	T101A	probably benign	Het
Or55b10	T	A	7: 102,144,084 (GRCm39)		probably benign	Het
Pabpc4l	T	A	3: 46,401,326 (GRCm39)	D106V	probably damaging	Het
Pdlim5	G	A	3: 141,953,109 (GRCm39)	P529L	probably damaging	Het
Ralgapa1	A	G	12: 55,755,843 (GRCm39)	L1111P	possibly damaging	Het
Rangap1	T	C	15: 81,606,221 (GRCm39)	D40G	probably benign	Het
Ripor2	T	C	13: 24,915,663 (GRCm39)	F1078L	probably damaging	Het
Ryr3	T	C	2: 112,610,336 (GRCm39)	D2312G	probably damaging	Het
Siglecg	T	A	7: 43,058,853 (GRCm39)	I202N	probably benign	Het
Slco4c1	G	T	1: 96,795,644 (GRCm39)	S138*	probably null	Het
Snx27	T	C	3: 94,431,593 (GRCm39)	Y267C	probably damaging	Het
Sphk2	C	T	7: 45,361,179 (GRCm39)	R275H	probably damaging	Het
Stk36	T	A	1: 74,655,793 (GRCm39)	V432E	possibly damaging	Het
Tecrl	C	T	5: 83,428,422 (GRCm39)	S283N	possibly damaging	Het
Tenm2	T	A	11: 35,914,474 (GRCm39)	E2354D	probably damaging	Het
Tmem59l	A	G	8: 70,937,822 (GRCm39)	V186A	possibly damaging	Het
Try4	T	C	6: 41,282,008 (GRCm39)		probably null	Het
Ubr1	C	A	2: 120,727,000 (GRCm39)	G1248V	probably benign	Het
Unc13b	T	C	4: 43,171,044 (GRCm39)	F624S	unknown	Het
Uvssa	T	G	5: 33,547,365 (GRCm39)	D310E	probably benign	Het
Vmn1r222	A	T	13: 23,416,418 (GRCm39)	M265K	probably benign	Het
Vmn1r3	A	G	4: 3,185,284 (GRCm39)	F8L	probably benign	Het
Zfp268	C	G	4: 145,349,156 (GRCm39)	Q198E	possibly damaging	Het
Zfp386	T	A	12: 116,023,517 (GRCm39)	C412S	probably damaging	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
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
R9689:Umod	UTSW	7	119,076,517 (GRCm39)	missense	possibly damaging	0.69

Predicted Primers

PCR Primer
(F):5'- CCTTAGGCTAAGATAGAAAAGCATCAC -3'
(R):5'- TCCAACTCTGTGGTTGAAGAC -3'

Sequencing Primer
(F):5'- GAAAAGCATCACAAATTCATGTCTTC -3'
(R):5'- AATGGGCTGTTCCAAGTCAC -3'

Posted On

2022-03-25