Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02160:Umodl1'

282393

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 #

IGL02160

Quality Score

Status

Chromosome

Chromosomal Location

30954679-31010708 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30986117 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 562 (V562A)

Ref Sequence

ENSEMBL: ENSMUSP00000110202 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000066554
AA Change: V562A

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000067443
Gene: ENSMUSG00000054134
AA Change: V562A

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: V562A

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000065470
Gene: ENSMUSG00000054134
AA Change: V562A

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: V562A

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110202
Gene: ENSMUSG00000054134
AA Change: V562A

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931440F15Rik	A	T	11: 29,823,593	Y621*	probably null	Het
Acat1	A	G	9: 53,591,987	V184A	probably benign	Het
Adam19	G	A	11: 46,139,695	C750Y	probably damaging	Het
Brd8	C	T	18: 34,602,727	S899N	probably damaging	Het
Cabp2	T	A	19: 4,084,868		probably benign	Het
Carmil3	T	C	14: 55,493,558	M94T	possibly damaging	Het
Ccdc107	A	G	4: 43,495,736	D213G	probably damaging	Het
Cdh23	T	C	10: 60,597,765		probably benign	Het
Cfhr2	T	A	1: 139,810,926	D299V	probably benign	Het
Clcn7	T	C	17: 25,149,030		probably benign	Het
Clspn	G	A	4: 126,581,510	E1019K	probably benign	Het
Ctnna3	A	G	10: 64,250,698	T350A	probably benign	Het
Dmbt1	G	A	7: 131,082,688	G638E	probably damaging	Het
Ext2	A	T	2: 93,813,584	D117E	probably benign	Het
Ffar4	T	A	19: 38,097,455	V110D	possibly damaging	Het
Foxred2	G	T	15: 77,955,650	Q147K	probably benign	Het
Gm960	T	C	19: 4,663,584	D276G	probably damaging	Het
Heatr9	T	C	11: 83,518,825	D107G	probably benign	Het
Hmgxb3	G	A	18: 61,171,236	A94V	probably damaging	Het
Htr5b	A	T	1: 121,528,045	S49T	possibly damaging	Het
Il1rl1	A	T	1: 40,461,837	M458L	probably benign	Het
Il23r	A	T	6: 67,423,578	N589K	probably benign	Het
Kbtbd11	G	A	8: 15,028,801	V467M	probably damaging	Het
Kidins220	T	A	12: 25,004,111	Y537N	probably damaging	Het
Kif27	T	A	13: 58,325,998	E728D	probably damaging	Het
Lum	T	C	10: 97,568,581	S113P	probably damaging	Het
Mkln1	A	G	6: 31,492,791		probably benign	Het
Mmp17	A	G	5: 129,595,569	D195G	possibly damaging	Het
Naa38	T	A	11: 69,396,368		probably benign	Het
Naalad2	G	A	9: 18,379,937	A191V	probably damaging	Het
Naip6	A	T	13: 100,299,425	H863Q	probably benign	Het
Ncoa6	A	G	2: 155,421,083	V477A	possibly damaging	Het
Nipal3	G	T	4: 135,474,417	Y153*	probably null	Het
Olfr1259	G	T	2: 89,943,805	H103Q	probably damaging	Het
Olfr1279	G	A	2: 111,306,798	V198I	probably benign	Het
Olfr1413	T	A	1: 92,573,357	L62Q	probably damaging	Het
Olfr270	A	G	4: 52,971,194	D191G	probably damaging	Het
Olfr982	A	T	9: 40,075,186	N297I	probably damaging	Het
Pik3c2a	G	A	7: 116,388,064	P541S	probably damaging	Het
Ppargc1b	A	T	18: 61,310,435	D552E	probably damaging	Het
Ppfia3	C	A	7: 45,360,051		probably benign	Het
Prcp	G	A	7: 92,917,761	S227N	probably benign	Het
Ptprq	T	A	10: 107,653,565	T900S	probably benign	Het
Ralgapa2	G	A	2: 146,348,440		probably benign	Het
Rcsd1	A	G	1: 165,657,579	S102P	probably damaging	Het
Rfwd3	T	A	8: 111,273,075	N757I	possibly damaging	Het
Rnf217	A	T	10: 31,505,771		probably null	Het
Scn2a	A	G	2: 65,730,116	D1230G	probably damaging	Het
Sdc3	T	C	4: 130,818,575		probably benign	Het
Slc27a4	G	T	2: 29,805,962	D170Y	probably benign	Het
Tcof1	A	G	18: 60,848,743		probably benign	Het
Ticam1	T	A	17: 56,270,560	I512F	possibly damaging	Het
Ticrr	T	C	7: 79,694,019	C1211R	probably benign	Het
Tlr2	A	T	3: 83,837,371	N468K	possibly damaging	Het
Tmod4	T	C	3: 95,129,113		probably benign	Het
Tnxb	T	C	17: 34,714,745	S2380P	probably benign	Het
Tox	A	G	4: 6,711,537	V309A	probably damaging	Het
Tpgs2	A	G	18: 25,140,580	F175L	possibly damaging	Het
Trim43b	A	G	9: 89,091,630	S17P	probably benign	Het
Ttc21a	G	T	9: 119,956,923	L662F	probably damaging	Het
Ubqln1	A	T	13: 58,192,137	N261K	probably damaging	Het
Unc45b	C	T	11: 82,940,181		probably benign	Het
Vars	T	A	17: 35,001,502	I20N	probably damaging	Het
Vcan	T	C	13: 89,684,493	N3092D	probably damaging	Het
Wdr66	A	T	5: 123,256,018	E323D	unknown	Het
Zc3h6	G	T	2: 128,997,685	E139D	probably benign	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
IGL01977:Umodl1	APN	17	30973768	missense	probably damaging	0.99
IGL02063:Umodl1	APN	17	30987914	missense	probably benign	0.07
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
floored	UTSW	17	30988057	nonsense	probably null
surprising	UTSW	17	30986465	missense	possibly damaging	0.77
unsettling	UTSW	17	30986554	nonsense	probably null
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	30986504	missense	probably benign	0.05
R1459:Umodl1	UTSW	17	30982258	splice site	probably benign
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
R7832:Umodl1	UTSW	17	30973692	critical splice acceptor site	probably null
R7915:Umodl1	UTSW	17	30973692	critical splice acceptor site	probably null

Posted On

2015-04-16