Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01977:Umodl1'

181726

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Umodl1

Ensembl Gene

ENSMUSG00000054134

Gene Name

uromodulin-like 1

Synonyms

D17Ertd488e

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01977

Quality Score

Status

Chromosome

Chromosomal Location

30954679-31010708 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30973768 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 290 (Y290N)

Ref Sequence

ENSEMBL: ENSMUSP00000110202 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000066554
AA Change: Y290N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000067443
Gene: ENSMUSG00000054134
AA Change: Y290N

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 damaging
Transcript: ENSMUST00000066981
AA Change: Y290N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000065470
Gene: ENSMUSG00000054134
AA Change: Y290N

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 damaging
Transcript: ENSMUST00000114555
AA Change: Y290N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000110202
Gene: ENSMUSG00000054134
AA Change: Y290N

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	A	10: 80,006,152	S1040T	probably benign	Het
Adam25	T	C	8: 40,755,097	Y467H	probably benign	Het
Ank1	A	G	8: 23,115,433	I1061V	probably benign	Het
Anxa10	T	C	8: 62,076,314	E123G	probably damaging	Het
Arhgap35	G	A	7: 16,563,203	L646F	probably damaging	Het
Atp8b5	A	G	4: 43,320,590		probably null	Het
Brap	A	G	5: 121,678,847		probably benign	Het
Carmil3	A	G	14: 55,493,536	T87A	probably damaging	Het
Ccdc172	A	G	19: 58,552,877	D256G	possibly damaging	Het
Cep350	C	T	1: 155,911,968	A1375T	probably benign	Het
Chrdl2	A	T	7: 100,022,056	Q127L	probably benign	Het
Cyp2c29	T	C	19: 39,290,897		probably benign	Het
Ddi1	C	A	9: 6,266,226	V48F	probably benign	Het
Ddrgk1	C	T	2: 130,655,246		probably benign	Het
Fastkd1	C	T	2: 69,694,588	V626I	possibly damaging	Het
Fgd5	A	G	6: 92,024,562	T755A	probably benign	Het
Fpgt	G	T	3: 155,088,018	T124K	probably damaging	Het
Gnl2	G	A	4: 125,047,612		probably null	Het
Got1	A	T	19: 43,515,845	S46T	probably benign	Het
Hbb-bt	G	T	7: 103,813,863	H3N	probably benign	Het
Ikbke	C	T	1: 131,272,101		probably benign	Het
Il2rb	A	G	15: 78,481,697	S467P	probably benign	Het
Kcnma1	A	G	14: 23,530,299		probably benign	Het
Ltbp2	T	C	12: 84,830,199	N391D	probably damaging	Het
Npr3	A	T	15: 11,858,718	I360N	probably damaging	Het
Nradd	G	A	9: 110,622,169	P44S	possibly damaging	Het
Olfr1023	G	T	2: 85,887,367	C189F	probably damaging	Het
Olfr871	G	A	9: 20,212,459	V37I	possibly damaging	Het
Pcdh17	A	G	14: 84,533,097	E1005G	possibly damaging	Het
Pcdhb11	A	G	18: 37,422,291	T225A	possibly damaging	Het
Pja2	T	C	17: 64,297,826	D454G	probably benign	Het
Pon3	T	C	6: 5,221,670	Y320C	probably damaging	Het
Prl2a1	A	G	13: 27,806,278	D70G	probably damaging	Het
Proc	T	A	18: 32,127,419	T218S	probably benign	Het
Proz	G	T	8: 13,066,913	G155V	probably damaging	Het
Rab11fip3	T	C	17: 26,068,003	E392G	possibly damaging	Het
Rab3gap2	C	T	1: 185,267,023	R976*	probably null	Het
Shisa2	G	A	14: 59,629,986	C229Y	probably damaging	Het
Slc2a5	T	C	4: 150,142,218	V379A	probably damaging	Het
Slc31a2	A	T	4: 62,295,960	K47N	probably damaging	Het
Sult2a6	G	A	7: 14,253,486	T88I	probably benign	Het
Tbc1d14	T	C	5: 36,505,037	Y302C	probably damaging	Het
Thumpd3	C	A	6: 113,059,966	N275K	possibly damaging	Het
Tnks2	T	C	19: 36,872,590		probably null	Het
Tube1	G	A	10: 39,135,045		probably benign	Het
Usp34	G	A	11: 23,452,661	E726K	probably damaging	Het
Vmn2r84	T	A	10: 130,394,066	D59V	probably benign	Het
Vps11	T	A	9: 44,356,219		probably benign	Het
Wdr19	T	C	5: 65,228,569	Y631H	probably benign	Het
Wdr62	G	A	7: 30,258,101	H88Y	probably damaging	Het
Wdr93	A	T	7: 79,752,505	N184I	probably damaging	Het
Wnk4	T	A	11: 101,265,414	F473Y	probably damaging	Het
Zbtb16	A	G	9: 48,657,183	W661R	probably damaging	Het

Other mutations in Umodl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00915:Umodl1	APN	17	31008750	utr 3 prime	probably benign
IGL01344:Umodl1	APN	17	30996264	missense	probably damaging	0.99
IGL01529:Umodl1	APN	17	30996259	missense	possibly damaging	0.94
IGL01609:Umodl1	APN	17	30998826	missense	possibly damaging	0.90
IGL01625:Umodl1	APN	17	30996255	missense	probably benign	0.00
IGL01877:Umodl1	APN	17	30982320	missense	probably benign	0.00
IGL02063:Umodl1	APN	17	30987914	missense	probably benign	0.07
IGL02160:Umodl1	APN	17	30986117	missense	probably damaging	0.97
IGL02252:Umodl1	APN	17	30994815	critical splice donor site	probably null
IGL02427:Umodl1	APN	17	30968441	splice site	probably benign
IGL02496:Umodl1	APN	17	30998654	missense	probably damaging	0.99
IGL02633:Umodl1	APN	17	30989488	missense	probably damaging	1.00
IGL03271:Umodl1	APN	17	30986499	nonsense	probably null
IGL03392:Umodl1	APN	17	30996355	missense	probably damaging	0.98
PIT4468001:Umodl1	UTSW	17	30959278	missense	probably damaging	1.00
R0048:Umodl1	UTSW	17	30968477	missense	probably damaging	1.00
R0048:Umodl1	UTSW	17	30968477	missense	probably damaging	1.00
R0653:Umodl1	UTSW	17	30984028	missense	probably benign	0.00
R0831:Umodl1	UTSW	17	30996351	missense	probably damaging	1.00
R1078:Umodl1	UTSW	17	30959373	missense	probably benign	0.00
R1166:Umodl1	UTSW	17	31002798	splice site	probably benign
R1231:Umodl1	UTSW	17	30959278	missense	probably damaging	1.00
R1459:Umodl1	UTSW	17	30982258	splice site	probably benign
R1459:Umodl1	UTSW	17	30986504	missense	probably benign	0.05
R1510:Umodl1	UTSW	17	30959229	missense	probably damaging	1.00
R1654:Umodl1	UTSW	17	30987968	missense	probably benign
R1757:Umodl1	UTSW	17	31008700	missense	probably damaging	0.99
R1781:Umodl1	UTSW	17	30968550	missense	probably damaging	1.00
R1873:Umodl1	UTSW	17	30982264	missense	probably damaging	0.99
R1911:Umodl1	UTSW	17	30992154	missense	possibly damaging	0.74
R1917:Umodl1	UTSW	17	30984043	missense	probably damaging	1.00
R1918:Umodl1	UTSW	17	30984043	missense	probably damaging	1.00
R2057:Umodl1	UTSW	17	31008766	critical splice donor site	probably null
R2058:Umodl1	UTSW	17	31008766	critical splice donor site	probably null
R2089:Umodl1	UTSW	17	30971919	missense	probably benign	0.00
R2091:Umodl1	UTSW	17	30971919	missense	probably benign	0.00
R2091:Umodl1	UTSW	17	30971919	missense	probably benign	0.00
R2431:Umodl1	UTSW	17	30992088	missense	possibly damaging	0.79
R2903:Umodl1	UTSW	17	30992173	missense	probably damaging	1.00
R3032:Umodl1	UTSW	17	30989528	missense	probably benign	0.01
R3956:Umodl1	UTSW	17	31002863	missense	probably benign	0.10
R3975:Umodl1	UTSW	17	30984789	nonsense	probably null
R4207:Umodl1	UTSW	17	30959367	missense	probably damaging	1.00
R4287:Umodl1	UTSW	17	30988065	missense	probably benign	0.11
R4452:Umodl1	UTSW	17	30994815	critical splice donor site	probably null
R4684:Umodl1	UTSW	17	30998114	missense	probably benign	0.00
R4769:Umodl1	UTSW	17	30984002	missense	possibly damaging	0.92
R4887:Umodl1	UTSW	17	31008665	missense	probably benign	0.06
R4888:Umodl1	UTSW	17	30999201	missense	probably damaging	1.00
R4978:Umodl1	UTSW	17	30986081	missense	probably benign
R4993:Umodl1	UTSW	17	30986485	missense	probably benign	0.00
R5241:Umodl1	UTSW	17	30984092	missense	probably benign	0.18
R5254:Umodl1	UTSW	17	30980359	missense	possibly damaging	0.86
R5454:Umodl1	UTSW	17	30986465	missense	possibly damaging	0.77
R5456:Umodl1	UTSW	17	30982289	missense	probably benign	0.04
R5754:Umodl1	UTSW	17	30994787	missense	probably damaging	0.96
R6189:Umodl1	UTSW	17	30996282	missense	possibly damaging	0.75
R6222:Umodl1	UTSW	17	31002892	critical splice donor site	probably null
R6289:Umodl1	UTSW	17	30982351	missense	probably benign	0.16
R6432:Umodl1	UTSW	17	30986147	missense	probably benign	0.38
R6478:Umodl1	UTSW	17	30959155	missense	probably damaging	1.00
R6702:Umodl1	UTSW	17	30986299	splice site	probably null
R6822:Umodl1	UTSW	17	30986554	nonsense	probably null
R6999:Umodl1	UTSW	17	30999123	missense	probably damaging	1.00
R7067:Umodl1	UTSW	17	30982272	missense	probably damaging	1.00
R7123:Umodl1	UTSW	17	30982344	missense	possibly damaging	0.90
R7219:Umodl1	UTSW	17	30982262	critical splice acceptor site	probably null
R7231:Umodl1	UTSW	17	30986116	missense	probably damaging	1.00
R7234:Umodl1	UTSW	17	30986621	missense	possibly damaging	0.87
R7297:Umodl1	UTSW	17	31008665	missense	probably benign	0.06
R7392:Umodl1	UTSW	17	30982332	missense	probably damaging	0.99
R7401:Umodl1	UTSW	17	30998148	missense	probably damaging	1.00
R7461:Umodl1	UTSW	17	30988057	nonsense	probably null
R7594:Umodl1	UTSW	17	30954805	missense	probably benign	0.02
R7613:Umodl1	UTSW	17	30988057	nonsense	probably null
R7763:Umodl1	UTSW	17	30986456	missense	probably benign	0.24
R7797:Umodl1	UTSW	17	30959151	missense	probably benign	0.02

Posted On

2014-05-07