Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02252:Umodl1'

286477

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 #

IGL02252

Quality Score

Status

Chromosome

Chromosomal Location

30954679-31010708 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 30994815 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110202 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000066554

SMART Domains

Protein: ENSMUSP00000067443
Gene: ENSMUSG00000054134

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

SMART Domains

Protein: ENSMUSP00000065470
Gene: ENSMUSG00000054134

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

SMART Domains

Protein: ENSMUSP00000110202
Gene: ENSMUSG00000054134

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

0.9386

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	G	2: 68,614,334		probably benign	Het
Actl7b	A	T	4: 56,741,205	I51N	probably damaging	Het
Adamts12	A	G	15: 11,311,015	I1119M	probably benign	Het
Apol10a	T	A	15: 77,488,470	V102D	probably benign	Het
Atrx	T	C	X: 105,845,823	E1628G	possibly damaging	Het
Btnl2	C	T	17: 34,365,390	S429F	possibly damaging	Het
C4bp	C	A	1: 130,636,787	D387Y	probably damaging	Het
Crybg3	G	T	16: 59,552,524		probably benign	Het
Dcaf12	G	T	4: 41,294,085	H351N	probably benign	Het
Fign	A	G	2: 63,980,639	S96P	probably benign	Het
Ggt5	A	G	10: 75,602,732	I96V	possibly damaging	Het
Gm11639	C	A	11: 104,753,927	R1114S	possibly damaging	Het
Gm3238	A	G	10: 77,770,857		probably benign	Het
Gm4792	G	T	10: 94,295,240	P69Q	unknown	Het
Gm5155	G	T	7: 17,910,532	V525F	possibly damaging	Het
Ighv1-58	A	T	12: 115,312,277	N80K	possibly damaging	Het
Ikbkap	G	T	4: 56,759,813	Q1151K	probably benign	Het
Irgm1	C	T	11: 48,866,154	G277S	possibly damaging	Het
Jsrp1	A	G	10: 80,808,873	V233A	probably benign	Het
Kcp	T	A	6: 29,504,549	R85W	probably damaging	Het
Kif14	T	C	1: 136,478,392	Y565H	probably damaging	Het
Klk1b4	G	A	7: 44,210,670	W69*	probably null	Het
Knl1	A	T	2: 119,072,540	Q1574L	probably damaging	Het
Lao1	A	G	4: 118,967,416	N232D	probably benign	Het
Lipn	A	G	19: 34,071,757	I108V	probably benign	Het
Lrrc49	T	A	9: 60,687,859	M1L	probably benign	Het
Matn2	G	T	15: 34,316,590	R26L	probably damaging	Het
Mmp16	G	A	4: 18,110,523	D440N	probably damaging	Het
Mn1	G	A	5: 111,421,241	A1026T	probably damaging	Het
Mrgpra1	A	T	7: 47,335,164	F256I	probably benign	Het
Msantd3	A	C	4: 48,560,869	E148D	probably benign	Het
Mylk3	G	T	8: 85,355,476	L361I	probably benign	Het
Nlrp12	A	G	7: 3,245,350	S117P	probably benign	Het
Nsmaf	T	C	4: 6,398,378	E870G	probably benign	Het
Olfr469	C	A	7: 107,823,146	A108S	probably benign	Het
Olfr854	T	A	9: 19,566,971	I138F	probably damaging	Het
Oplah	T	C	15: 76,304,764	T320A	probably damaging	Het
Pard3	T	G	8: 127,398,756	S729A	probably benign	Het
Pdzd9	T	C	7: 120,663,015	I75V	probably benign	Het
Pgf	A	G	12: 85,169,425		probably benign	Het
Phf1	T	A	17: 26,935,135	V140D	possibly damaging	Het
Pkd1l3	T	C	8: 109,631,076	S775P	possibly damaging	Het
Rhobtb1	A	T	10: 69,249,685	T85S	probably damaging	Het
Sez6	T	A	11: 77,974,513	Y659N	probably damaging	Het
Sfmbt1	T	C	14: 30,817,733	L826P	probably damaging	Het
Sftpd	T	A	14: 41,172,514	D316V	probably damaging	Het
Shc2	T	C	10: 79,626,370	D313G	probably benign	Het
Snrk	T	C	9: 122,157,260	Y232H	probably damaging	Het
Sntg1	G	T	1: 8,414,228	P456Q	probably benign	Het
Sorbs1	A	T	19: 40,314,397	N783K	probably damaging	Het
Stag3	A	T	5: 138,302,548	I923F	probably damaging	Het
Tep1	T	A	14: 50,830,255	H2168L	possibly damaging	Het
Tmem132c	A	T	5: 127,462,927	N339I	possibly damaging	Het
Trim34b	A	G	7: 104,329,932	T129A	probably damaging	Het
Ttc21a	T	C	9: 119,956,928	L664P	probably damaging	Het
Ubl5	C	T	9: 20,645,627	R56*	probably null	Het
Ubox5	G	A	2: 130,599,787	R327W	probably damaging	Het
Ubr5	G	T	15: 38,024,894	A546E	probably damaging	Het
Unc45a	T	C	7: 80,332,969		probably benign	Het
Vmn1r236	C	T	17: 21,286,839	T73I	probably benign	Het
Vmn2r67	T	G	7: 85,155,800	N35H	probably benign	Het
Vmn2r74	A	G	7: 85,957,323	Y272H	probably benign	Het
Wdr43	T	A	17: 71,626,850	D147E	probably damaging	Het
Zfp352	A	T	4: 90,224,130	D169V	probably benign	Het
Zim1	A	T	7: 6,688,628	N15K	unknown	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
IGL02160:Umodl1	APN	17	30986117	missense	probably damaging	0.97
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	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
R7915:Umodl1	UTSW	17	30973692	critical splice acceptor site	probably null
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

Posted On

2015-04-16