Mutagenetix > Incidental Mutation

Incidental Mutation 'R3975:Umodl1'

368306

Institutional Source

Beutler Lab

Gene Symbol

Umodl1

Ensembl Gene

ENSMUSG00000054134

Gene Name

uromodulin-like 1

Synonyms

D17Ertd488e

MMRRC Submission

040939-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3975 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

30954679-31010708 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 30984789 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 525 (Y525*)

Ref Sequence

ENSEMBL: ENSMUSP00000110202 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066554] [ENSMUST00000066981] [ENSMUST00000114555]

AlphaFold

Q5DID3

Predicted Effect

probably null
Transcript: ENSMUST00000066554
AA Change: Y525*

SMART Domains

Protein: ENSMUSP00000067443
Gene: ENSMUSG00000054134
AA Change: Y525*

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
WAP	118	159	3.15e-4	SMART
EGF_like	265	306	3.72e-2	SMART
FN3	305	381	2.61e0	SMART
EGF	503	545	4.63e-1	SMART
low complexity region	651	661	N/A	INTRINSIC
FN3	736	811	6.01e-5	SMART
SEA	821	936	8.88e-2	SMART
EGF	933	974	4.26e0	SMART
ZP	1024	1267	5.44e-25	SMART
transmembrane domain	1301	1323	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000066981
AA Change: Y525*

SMART Domains

Protein: ENSMUSP00000065470
Gene: ENSMUSG00000054134
AA Change: Y525*

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:EMI	34	102	8.7e-13	PFAM
WAP	118	159	3.15e-4	SMART
EGF_like	265	306	3.72e-2	SMART
FN3	305	381	2.61e0	SMART
Pfam:SEA	388	492	8.9e-15	PFAM
EGF	503	545	4.63e-1	SMART
low complexity region	619	632	N/A	INTRINSIC
SEA	706	821	8.88e-2	SMART
EGF	818	859	4.26e0	SMART
ZP	909	1152	5.44e-25	SMART
transmembrane domain	1186	1208	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000114555
AA Change: Y525*

SMART Domains

Protein: ENSMUSP00000110202
Gene: ENSMUSG00000054134
AA Change: Y525*

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:EMI	34	102	9.7e-13	PFAM
WAP	118	159	3.15e-4	SMART
EGF_like	265	306	3.72e-2	SMART
FN3	305	381	2.61e0	SMART
Pfam:SEA	388	492	9.9e-15	PFAM
EGF	503	545	4.63e-1	SMART
low complexity region	651	661	N/A	INTRINSIC
FN3	736	811	6.01e-5	SMART
SEA	821	936	8.88e-2	SMART
EGF	933	974	4.26e0	SMART
ZP	1024	1267	5.44e-25	SMART
transmembrane domain	1301	1323	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.6%

Validation Efficiency

95% (59/62)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam23	T	A	1: 63,547,729 (GRCm38)	Y416*	probably null	Het
Akr1b10	G	T	6: 34,392,496 (GRCm38)		probably null	Het
Arap2	G	T	5: 62,748,894 (GRCm38)	P261T	possibly damaging	Het
Bckdha	C	A	7: 25,631,433 (GRCm38)	D53Y	probably damaging	Het
Bfsp2	A	G	9: 103,480,072 (GRCm38)	V52A	probably benign	Het
Bola3	T	C	6: 83,351,267 (GRCm38)	L45P	probably benign	Het
Cacna2d4	A	G	6: 119,278,173 (GRCm38)		probably null	Het
Ceacam16	C	A	7: 19,853,612 (GRCm38)	Q410H	probably damaging	Het
Cenpe	A	G	3: 135,235,225 (GRCm38)		probably null	Het
Cenpe	T	C	3: 135,238,472 (GRCm38)		probably null	Het
Clca1	A	T	3: 145,032,639 (GRCm38)	V36D	probably damaging	Het
Copa	T	A	1: 172,121,245 (GRCm38)	S1155T	probably benign	Het
Crb2	C	A	2: 37,793,668 (GRCm38)	P1061T	possibly damaging	Het
Crot	T	C	5: 8,977,541 (GRCm38)	T264A	probably benign	Het
Cyp51	C	T	5: 4,091,877 (GRCm38)	G346S	probably damaging	Het
Dnah6	A	G	6: 73,121,992 (GRCm38)	S2027P	possibly damaging	Het
Fam129a	T	C	1: 151,649,335 (GRCm38)	Y164H	probably damaging	Het
Fbxo18	T	C	2: 11,767,210 (GRCm38)	H220R	possibly damaging	Het
Gdf2	T	A	14: 33,944,834 (GRCm38)	V171D	probably damaging	Het
Gm9825	A	T	6: 7,983,149 (GRCm38)		noncoding transcript	Het
Golgb1	T	G	16: 36,918,571 (GRCm38)	V2424G	probably damaging	Het
Gpbp1l1	T	C	4: 116,570,985 (GRCm38)		probably null	Het
Gpx6	C	A	13: 21,317,658 (GRCm38)	S150Y	probably damaging	Het
Greb1l	A	G	18: 10,522,247 (GRCm38)	N672S	possibly damaging	Het
Kcnma1	C	T	14: 24,003,747 (GRCm38)		probably null	Het
Lrba	T	C	3: 86,351,255 (GRCm38)	F1350L	probably damaging	Het
Nat8f4	A	G	6: 85,901,070 (GRCm38)	V157A	possibly damaging	Het
Nt5dc2	T	C	14: 31,138,875 (GRCm38)	S439P	probably damaging	Het
Olfr1090	T	A	2: 86,754,543 (GRCm38)	H65L	probably damaging	Het
Olfr134	A	G	17: 38,175,495 (GRCm38)	N137S	probably benign	Het
Olfr141	G	A	2: 86,806,460 (GRCm38)	P180S	possibly damaging	Het
Olfr693	T	C	7: 106,677,785 (GRCm38)	R234G	probably damaging	Het
Orm3	A	T	4: 63,356,158 (GRCm38)		probably null	Het
Otof	A	G	5: 30,370,712 (GRCm38)	L1929P	probably damaging	Het
Pex5l	C	A	3: 33,015,015 (GRCm38)	C111F	probably damaging	Het
Plcl1	T	A	1: 55,698,215 (GRCm38)	M905K	probably benign	Het
Prdm6	T	C	18: 53,540,206 (GRCm38)	I186T	possibly damaging	Het
Rara	T	G	11: 98,970,569 (GRCm38)	I236S	probably damaging	Het
Reln	A	T	5: 21,995,366 (GRCm38)	S1379T	possibly damaging	Het
Rp1l1	T	A	14: 64,030,309 (GRCm38)	Y1115N	probably damaging	Het
Rpe65	A	T	3: 159,604,585 (GRCm38)	N135I	probably damaging	Het
Rps6	A	G	4: 86,856,813 (GRCm38)	V18A	probably benign	Het
Scrn3	T	C	2: 73,335,777 (GRCm38)	S385P	possibly damaging	Het
Sis	T	C	3: 72,943,635 (GRCm38)	T577A	probably damaging	Het
Slx1b	G	A	7: 126,691,807 (GRCm38)	L239F	probably damaging	Het
Smad4	G	T	18: 73,677,736 (GRCm38)	T59K	possibly damaging	Het
Smad6	A	G	9: 64,020,930 (GRCm38)	V32A	probably benign	Het
Smc6	T	A	12: 11,274,074 (GRCm38)	F73L	probably damaging	Het
Sorbs2	T	C	8: 45,772,710 (GRCm38)		probably null	Het
Svbp	T	A	4: 119,195,893 (GRCm38)	F32I	probably benign	Het
Tap1	C	A	17: 34,189,567 (GRCm38)		probably benign	Het
Tesk1	C	T	4: 43,445,786 (GRCm38)	P280S	possibly damaging	Het
Thrb	A	G	14: 18,033,456 (GRCm38)	I406M	probably damaging	Het
Tsc22d1	T	C	14: 76,418,609 (GRCm38)	S761P	probably damaging	Het
Ttn	T	C	2: 76,876,653 (GRCm38)		probably benign	Het
Vmn2r70	C	T	7: 85,559,332 (GRCm38)	V646I	probably benign	Het
Wipf1	C	T	2: 73,437,169 (GRCm38)	G295D	probably benign	Het
Wisp3	C	G	10: 39,155,098 (GRCm38)	C143S	probably damaging	Het
Zim1	A	T	7: 6,677,130 (GRCm38)	H511Q	probably damaging	Het

Other mutations in Umodl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00915:Umodl1	APN	17	31,008,750 (GRCm38)	utr 3 prime	probably benign
IGL01344:Umodl1	APN	17	30,996,264 (GRCm38)	missense	probably damaging	0.99
IGL01529:Umodl1	APN	17	30,996,259 (GRCm38)	missense	possibly damaging	0.94
IGL01609:Umodl1	APN	17	30,998,826 (GRCm38)	missense	possibly damaging	0.90
IGL01625:Umodl1	APN	17	30,996,255 (GRCm38)	missense	probably benign	0.00
IGL01877:Umodl1	APN	17	30,982,320 (GRCm38)	missense	probably benign	0.00
IGL01977:Umodl1	APN	17	30,973,768 (GRCm38)	missense	probably damaging	0.99
IGL02063:Umodl1	APN	17	30,987,914 (GRCm38)	missense	probably benign	0.07
IGL02160:Umodl1	APN	17	30,986,117 (GRCm38)	missense	probably damaging	0.97
IGL02252:Umodl1	APN	17	30,994,815 (GRCm38)	critical splice donor site	probably null
IGL02427:Umodl1	APN	17	30,968,441 (GRCm38)	splice site	probably benign
IGL02496:Umodl1	APN	17	30,998,654 (GRCm38)	missense	probably damaging	0.99
IGL02633:Umodl1	APN	17	30,989,488 (GRCm38)	missense	probably damaging	1.00
IGL03271:Umodl1	APN	17	30,986,499 (GRCm38)	nonsense	probably null
IGL03392:Umodl1	APN	17	30,996,355 (GRCm38)	missense	probably damaging	0.98
Disquieting	UTSW	17	30,959,155 (GRCm38)	missense	probably damaging	1.00
floored	UTSW	17	30,988,057 (GRCm38)	nonsense	probably null
R7231_umodl1_507	UTSW	17	30,986,116 (GRCm38)	missense	probably damaging	1.00
surprising	UTSW	17	30,986,465 (GRCm38)	missense	possibly damaging	0.77
unsettling	UTSW	17	30,986,554 (GRCm38)	nonsense	probably null
G1citation:Umodl1	UTSW	17	30,986,554 (GRCm38)	nonsense	probably null
PIT4468001:Umodl1	UTSW	17	30,959,278 (GRCm38)	missense	probably damaging	1.00
R0048:Umodl1	UTSW	17	30,968,477 (GRCm38)	missense	probably damaging	1.00
R0048:Umodl1	UTSW	17	30,968,477 (GRCm38)	missense	probably damaging	1.00
R0653:Umodl1	UTSW	17	30,984,028 (GRCm38)	missense	probably benign	0.00
R0831:Umodl1	UTSW	17	30,996,351 (GRCm38)	missense	probably damaging	1.00
R1078:Umodl1	UTSW	17	30,959,373 (GRCm38)	missense	probably benign	0.00
R1166:Umodl1	UTSW	17	31,002,798 (GRCm38)	splice site	probably benign
R1231:Umodl1	UTSW	17	30,959,278 (GRCm38)	missense	probably damaging	1.00
R1459:Umodl1	UTSW	17	30,986,504 (GRCm38)	missense	probably benign	0.05
R1459:Umodl1	UTSW	17	30,982,258 (GRCm38)	splice site	probably benign
R1510:Umodl1	UTSW	17	30,959,229 (GRCm38)	missense	probably damaging	1.00
R1654:Umodl1	UTSW	17	30,987,968 (GRCm38)	missense	probably benign
R1757:Umodl1	UTSW	17	31,008,700 (GRCm38)	missense	probably damaging	0.99
R1781:Umodl1	UTSW	17	30,968,550 (GRCm38)	missense	probably damaging	1.00
R1873:Umodl1	UTSW	17	30,982,264 (GRCm38)	missense	probably damaging	0.99
R1911:Umodl1	UTSW	17	30,992,154 (GRCm38)	missense	possibly damaging	0.74
R1917:Umodl1	UTSW	17	30,984,043 (GRCm38)	missense	probably damaging	1.00
R1918:Umodl1	UTSW	17	30,984,043 (GRCm38)	missense	probably damaging	1.00
R2057:Umodl1	UTSW	17	31,008,766 (GRCm38)	critical splice donor site	probably null
R2058:Umodl1	UTSW	17	31,008,766 (GRCm38)	critical splice donor site	probably null
R2089:Umodl1	UTSW	17	30,971,919 (GRCm38)	missense	probably benign	0.00
R2091:Umodl1	UTSW	17	30,971,919 (GRCm38)	missense	probably benign	0.00
R2091:Umodl1	UTSW	17	30,971,919 (GRCm38)	missense	probably benign	0.00
R2431:Umodl1	UTSW	17	30,992,088 (GRCm38)	missense	possibly damaging	0.79
R2903:Umodl1	UTSW	17	30,992,173 (GRCm38)	missense	probably damaging	1.00
R3032:Umodl1	UTSW	17	30,989,528 (GRCm38)	missense	probably benign	0.01
R3956:Umodl1	UTSW	17	31,002,863 (GRCm38)	missense	probably benign	0.10
R4207:Umodl1	UTSW	17	30,959,367 (GRCm38)	missense	probably damaging	1.00
R4287:Umodl1	UTSW	17	30,988,065 (GRCm38)	missense	probably benign	0.11
R4452:Umodl1	UTSW	17	30,994,815 (GRCm38)	critical splice donor site	probably null
R4684:Umodl1	UTSW	17	30,998,114 (GRCm38)	missense	probably benign	0.00
R4769:Umodl1	UTSW	17	30,984,002 (GRCm38)	missense	possibly damaging	0.92
R4887:Umodl1	UTSW	17	31,008,665 (GRCm38)	missense	probably benign	0.06
R4888:Umodl1	UTSW	17	30,999,201 (GRCm38)	missense	probably damaging	1.00
R4978:Umodl1	UTSW	17	30,986,081 (GRCm38)	missense	probably benign
R4993:Umodl1	UTSW	17	30,986,485 (GRCm38)	missense	probably benign	0.00
R5241:Umodl1	UTSW	17	30,984,092 (GRCm38)	missense	probably benign	0.18
R5254:Umodl1	UTSW	17	30,980,359 (GRCm38)	missense	possibly damaging	0.86
R5454:Umodl1	UTSW	17	30,986,465 (GRCm38)	missense	possibly damaging	0.77
R5456:Umodl1	UTSW	17	30,982,289 (GRCm38)	missense	probably benign	0.04
R5754:Umodl1	UTSW	17	30,994,787 (GRCm38)	missense	probably damaging	0.96
R6189:Umodl1	UTSW	17	30,996,282 (GRCm38)	missense	possibly damaging	0.75
R6222:Umodl1	UTSW	17	31,002,892 (GRCm38)	critical splice donor site	probably null
R6289:Umodl1	UTSW	17	30,982,351 (GRCm38)	missense	probably benign	0.16
R6432:Umodl1	UTSW	17	30,986,147 (GRCm38)	missense	probably benign	0.38
R6478:Umodl1	UTSW	17	30,959,155 (GRCm38)	missense	probably damaging	1.00
R6702:Umodl1	UTSW	17	30,986,299 (GRCm38)	splice site	probably null
R6822:Umodl1	UTSW	17	30,986,554 (GRCm38)	nonsense	probably null
R6999:Umodl1	UTSW	17	30,999,123 (GRCm38)	missense	probably damaging	1.00
R7067:Umodl1	UTSW	17	30,982,272 (GRCm38)	missense	probably damaging	1.00
R7123:Umodl1	UTSW	17	30,982,344 (GRCm38)	missense	possibly damaging	0.90
R7219:Umodl1	UTSW	17	30,982,262 (GRCm38)	critical splice acceptor site	probably null
R7231:Umodl1	UTSW	17	30,986,116 (GRCm38)	missense	probably damaging	1.00
R7234:Umodl1	UTSW	17	30,986,621 (GRCm38)	missense	possibly damaging	0.87
R7297:Umodl1	UTSW	17	31,008,665 (GRCm38)	missense	probably benign	0.06
R7392:Umodl1	UTSW	17	30,982,332 (GRCm38)	missense	probably damaging	0.99
R7401:Umodl1	UTSW	17	30,998,148 (GRCm38)	missense	probably damaging	1.00
R7461:Umodl1	UTSW	17	30,988,057 (GRCm38)	nonsense	probably null
R7594:Umodl1	UTSW	17	30,954,805 (GRCm38)	missense	probably benign	0.02
R7613:Umodl1	UTSW	17	30,988,057 (GRCm38)	nonsense	probably null
R7763:Umodl1	UTSW	17	30,986,456 (GRCm38)	missense	probably benign	0.24
R7797:Umodl1	UTSW	17	30,959,151 (GRCm38)	missense	probably benign	0.02
R7832:Umodl1	UTSW	17	30,973,692 (GRCm38)	critical splice acceptor site	probably null
R7954:Umodl1	UTSW	17	30,986,387 (GRCm38)	missense	probably benign	0.00
R8088:Umodl1	UTSW	17	30,973,796 (GRCm38)	missense	probably benign	0.29
R8111:Umodl1	UTSW	17	30,971,818 (GRCm38)	missense	probably damaging	0.99
R8314:Umodl1	UTSW	17	30,984,832 (GRCm38)	missense	probably damaging	0.99
R8826:Umodl1	UTSW	17	30,983,984 (GRCm38)	missense	possibly damaging	0.65
R9067:Umodl1	UTSW	17	30,973,703 (GRCm38)	missense	probably damaging	1.00
R9091:Umodl1	UTSW	17	30,966,704 (GRCm38)	missense	probably damaging	1.00
R9099:Umodl1	UTSW	17	30,959,173 (GRCm38)	missense	probably benign	0.01
R9270:Umodl1	UTSW	17	30,966,704 (GRCm38)	missense	probably damaging	1.00
R9341:Umodl1	UTSW	17	30,998,727 (GRCm38)	missense	possibly damaging	0.95
R9343:Umodl1	UTSW	17	30,998,727 (GRCm38)	missense	possibly damaging	0.95
R9400:Umodl1	UTSW	17	30,996,393 (GRCm38)	missense	probably damaging	0.99
R9569:Umodl1	UTSW	17	30,998,169 (GRCm38)	missense	probably damaging	1.00
R9615:Umodl1	UTSW	17	30,998,178 (GRCm38)	missense	possibly damaging	0.94
R9787:Umodl1	UTSW	17	30,959,350 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTTTGACAGACTTGGGCCTC -3'
(R):5'- CTGGGGACATTTCGTGACTTTC -3'

Sequencing Primer
(F):5'- CCCAGCAGTTCTCTGTAGGAAG -3'
(R):5'- ACATTTCGTGACTTTCTTGGGC -3'

Posted On

2016-01-22