Mutagenetix > Incidental Mutation

Incidental Mutation 'R8939:Umod'

680846

Institutional Source

Beutler Lab

Gene Symbol

Umod

Ensembl Gene

ENSMUSG00000030963

Gene Name

uromodulin

Synonyms

Tamm-Horsfall glycoprotein, uromucoid, Urehd1, urehr4

MMRRC Submission

068712-MU

Accession Numbers

Essential gene?

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

Stock #

R8939 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119061931-119078485 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119068700 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 449 (I449V)

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: I449V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000033263
Gene: ENSMUSG00000030963
AA Change: I449V

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: ENSMUST00000207378

Predicted Effect

probably damaging
Transcript: ENSMUST00000209095
AA Change: I449V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (71/71)

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
4930578I06Rik	A	G	14: 64,225,162 (GRCm39)	V12A	probably benign	Het
Abcc12	A	G	8: 87,243,947 (GRCm39)	Y1069H	probably damaging	Het
Abcc9	T	C	6: 142,624,977 (GRCm39)	T473A	probably damaging	Het
Acsm1	A	T	7: 119,239,868 (GRCm39)	T271S	probably benign	Het
Adh6b	T	C	3: 138,055,397 (GRCm39)	I49T	probably benign	Het
Aff4	A	T	11: 53,263,231 (GRCm39)	T84S	probably benign	Het
Angptl7	G	A	4: 148,580,956 (GRCm39)	R280*	probably null	Het
Bhlhe23	T	A	2: 180,418,099 (GRCm39)	K146N	probably damaging	Het
Cacna1s	T	C	1: 136,014,544 (GRCm39)		probably null	Het
Cfap45	C	G	1: 172,372,834 (GRCm39)	R510G	probably damaging	Het
Chl1	A	G	6: 103,642,868 (GRCm39)	Y202C	probably damaging	Het
Chrna6	T	A	8: 27,896,870 (GRCm39)	T336S	probably benign	Het
Clpx	A	G	9: 65,231,519 (GRCm39)	K535E	probably benign	Het
Crybg3	T	C	16: 59,376,512 (GRCm39)	M1581V	probably benign	Het
Ddx4	A	T	13: 112,758,823 (GRCm39)	I246K	probably benign	Het
F7	G	T	8: 13,078,724 (GRCm39)	G52C	probably damaging	Het
Fam186b	T	C	15: 99,177,223 (GRCm39)	Q701R	probably benign	Het
Fign	T	A	2: 63,809,456 (GRCm39)	M605L	probably benign	Het
Fpr2	T	C	17: 18,113,883 (GRCm39)	F293S	probably damaging	Het
Gm40460	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	7: 141,794,171 (GRCm39)		probably benign	Het
Gria2	A	T	3: 80,618,170 (GRCm39)		probably benign	Het
Grid1	G	A	14: 35,043,664 (GRCm39)	D340N	probably damaging	Het
Gsto2	T	C	19: 47,873,203 (GRCm39)		probably null	Het
Hsd3b1	A	G	3: 98,760,299 (GRCm39)	W231R	probably damaging	Het
Igflr1	CAGAG	CAG	7: 30,266,888 (GRCm39)		probably null	Het
Ighv1-80	C	T	12: 115,876,113 (GRCm39)	G68R	probably damaging	Het
Il10ra	A	G	9: 45,177,802 (GRCm39)	V69A	unknown	Het
Klhdc1	C	T	12: 69,300,537 (GRCm39)	A159V	probably damaging	Het
Krtap4-6	A	G	11: 99,556,229 (GRCm39)	I166T	unknown	Het
Lce1h	A	T	3: 92,670,976 (GRCm39)	C59S	unknown	Het
Magi3	T	C	3: 103,996,748 (GRCm39)		probably benign	Het
Map3k1	G	T	13: 111,892,837 (GRCm39)	S806*	probably null	Het
Map3k6	T	A	4: 132,979,954 (GRCm39)		probably benign	Het
Mgam	G	A	6: 40,740,137 (GRCm39)		probably null	Het
Mtx1	A	G	3: 89,120,033 (GRCm39)	V207A	probably damaging	Het
Muc5ac	A	T	7: 141,347,091 (GRCm39)	N356Y	probably damaging	Het
Myo16	T	C	8: 10,524,679 (GRCm39)	F810S	probably damaging	Het
Nlrx1	A	G	9: 44,166,761 (GRCm39)	L774P	probably damaging	Het
Nr1i2	C	T	16: 38,086,382 (GRCm39)	V28I	probably benign	Het
Or10h28	A	G	17: 33,488,589 (GRCm39)	K297R	probably damaging	Het
Or5b122	A	C	19: 13,562,860 (GRCm39)	N64T	probably damaging	Het
Pcmtd2	T	C	2: 181,496,863 (GRCm39)		probably benign	Het
Pcnx3	A	G	19: 5,730,347 (GRCm39)	L102P	probably damaging	Het
Pnpla6	A	G	8: 3,571,319 (GRCm39)	E114G	possibly damaging	Het
Ppp4r1	T	C	17: 66,110,926 (GRCm39)	V70A	probably damaging	Het
Psd2	G	A	18: 36,121,292 (GRCm39)	V421M	probably damaging	Het
Qng1	C	T	13: 58,532,875 (GRCm39)	A32T	probably damaging	Het
Rbak	C	T	5: 143,160,025 (GRCm39)	E343K	possibly damaging	Het
Rhbdf1	G	A	11: 32,160,093 (GRCm39)	A136V	probably benign	Het
Rusc1	T	A	3: 88,995,337 (GRCm39)	E231D	probably benign	Het
Rxfp1	T	C	3: 79,552,231 (GRCm39)	E690G	probably damaging	Het
Sdr9c7	A	G	10: 127,734,776 (GRCm39)	E88G	probably benign	Het
Sec23b	T	C	2: 144,411,137 (GRCm39)		probably null	Het
Sgcb	A	T	5: 73,801,661 (GRCm39)	I68N	probably damaging	Het
Sh3pxd2b	T	C	11: 32,364,433 (GRCm39)		probably benign	Het
Slc25a48	C	T	13: 56,611,519 (GRCm39)	P209S	probably damaging	Het
Slc9a3	C	A	13: 74,311,895 (GRCm39)	H614Q	possibly damaging	Het
Slurp1	G	A	15: 74,598,763 (GRCm39)	S76L	probably damaging	Het
Spen	T	C	4: 141,202,969 (GRCm39)	E1886G	possibly damaging	Het
Sqor	C	T	2: 122,649,549 (GRCm39)	P151S	possibly damaging	Het
Sstr4	C	A	2: 148,238,228 (GRCm39)	L280M	probably damaging	Het
Stard10	A	G	7: 100,991,847 (GRCm39)	Y117C	probably damaging	Het
Stard13	A	T	5: 150,968,574 (GRCm39)		probably null	Het
Stim2	G	T	5: 54,262,673 (GRCm39)	R305L	possibly damaging	Het
Syt14	G	A	1: 192,612,896 (GRCm39)	R635C	probably damaging	Het
Tmcc3	A	T	10: 94,381,483 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,575,695 (GRCm39)	N23320S	possibly damaging	Het
Ubqln4	A	G	3: 88,473,023 (GRCm39)	T493A	probably benign	Het
Ugt2b34	A	G	5: 87,039,158 (GRCm39)	L501P	probably damaging	Het
Vmn2r51	C	A	7: 9,833,953 (GRCm39)	D362Y	possibly damaging	Het
Xirp2	A	C	2: 67,346,488 (GRCm39)	T2910P	probably benign	Het
Zscan20	A	G	4: 128,498,315 (GRCm39)	S28P	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
R8786:Umod	UTSW	7	119,076,581 (GRCm39)	missense	possibly damaging	0.76
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'- AGGACCAACTTCTTTACCTGTC -3'
(R):5'- ACTGCCATTTGCTAAGCTGTG -3'

Sequencing Primer
(F):5'- GCATAGCAGTTGGTCATTAGCAGTAC -3'
(R):5'- CCATTTGCTAAGCTGTGGTGAG -3'

Posted On

2021-08-31