Mutagenetix > Incidental Mutation

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 (GRCm38)

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]

AlphaFold

Q5DID3

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
Disquieting	UTSW	17	30959155	missense	probably damaging	1.00
floored	UTSW	17	30988057	nonsense	probably null
R7231_umodl1_507	UTSW	17	30986116	missense	probably damaging	1.00
surprising	UTSW	17	30986465	missense	possibly damaging	0.77
unsettling	UTSW	17	30986554	nonsense	probably null
G1citation:Umodl1	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	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
R7832:Umodl1	UTSW	17	30973692	critical splice acceptor site	probably null
R7954:Umodl1	UTSW	17	30986387	missense	probably benign	0.00
R8088:Umodl1	UTSW	17	30973796	missense	probably benign	0.29
R8111:Umodl1	UTSW	17	30971818	missense	probably damaging	0.99
R8314:Umodl1	UTSW	17	30984832	missense	probably damaging	0.99
R8826:Umodl1	UTSW	17	30983984	missense	possibly damaging	0.65
R9067:Umodl1	UTSW	17	30973703	missense	probably damaging	1.00
R9091:Umodl1	UTSW	17	30966704	missense	probably damaging	1.00
R9099:Umodl1	UTSW	17	30959173	missense	probably benign	0.01
R9270:Umodl1	UTSW	17	30966704	missense	probably damaging	1.00
R9341:Umodl1	UTSW	17	30998727	missense	possibly damaging	0.95
R9343:Umodl1	UTSW	17	30998727	missense	possibly damaging	0.95
R9400:Umodl1	UTSW	17	30996393	missense	probably damaging	0.99
R9569:Umodl1	UTSW	17	30998169	missense	probably damaging	1.00
R9615:Umodl1	UTSW	17	30998178	missense	possibly damaging	0.94
R9787:Umodl1	UTSW	17	30959350	missense	probably damaging	1.00

Posted On

2015-04-16