Mutagenetix > Incidental Mutation

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 (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110202 (fasta)

Gene Model

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

AlphaFold

Q5DID3

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
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