Mutagenetix > Incidental Mutation

Incidental Mutation 'R7219:Umodl1'

561697

Institutional Source

Beutler Lab

Gene Symbol

Umodl1

Ensembl Gene

ENSMUSG00000054134

Gene Name

uromodulin-like 1

Synonyms

D17Ertd488e

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7219 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30954679-31010708 bp(+) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to G at 30982262 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000067443 (fasta)

Gene Model

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

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

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

0.9480

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

97% (77/79)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,849,644	S300P	unknown	Het
Abhd17a	T	A	10: 80,584,174	K226*	probably null	Het
Alkbh7	T	A	17: 56,998,508	H108Q	probably damaging	Het
Ankrd44	A	C	1: 54,766,910	H112Q	probably damaging	Het
Capn3	A	G	2: 120,503,454	E790G	probably damaging	Het
Cd47	C	A	16: 49,908,077	N330K	possibly damaging	Het
Cd55	A	G	1: 130,462,606	S22P	possibly damaging	Het
Cdc25a	A	G	9: 109,889,086	I373V	probably damaging	Het
Cfap43	T	C	19: 47,791,473	I514V	probably benign	Het
Cfap73	A	T	5: 120,630,135	M186K	probably benign	Het
Chd9	A	G	8: 91,001,766	D1270G	unknown	Het
Ciita	A	G	16: 10,512,257	T802A	probably benign	Het
Dlgap2	A	G	8: 14,743,296	E430G	probably benign	Het
Dlx1	C	A	2: 71,530,169	S59*	probably null	Het
Dnaaf3	T	C	7: 4,528,077	N119S	probably damaging	Het
Dnah11	T	G	12: 118,041,095	I2164L	possibly damaging	Het
Dnah11	T	C	12: 118,126,889	K1079R	probably benign	Het
Dnah12	C	T	14: 26,854,880	T3029I	probably damaging	Het
Dppa3	A	T	6: 122,629,959	Y136F	probably damaging	Het
Enox1	T	A	14: 77,720,844	M611K	probably benign	Het
Fam149a	A	T	8: 45,350,563	I378N	possibly damaging	Het
Fam208b	T	A	13: 3,590,521	L205F	probably damaging	Het
Farp2	T	C	1: 93,560,318	F89S	probably damaging	Het
Fbn2	C	T	18: 58,053,027	V1750M	probably benign	Het
Frs3	A	G	17: 47,702,695	T181A	probably damaging	Het
Heatr4	T	A	12: 83,957,870	I726F	possibly damaging	Het
Ighg1	T	G	12: 113,326,596	E375A		Het
Ikzf4	G	T	10: 128,634,383	Q476K	possibly damaging	Het
Kcnh1	G	T	1: 192,505,637	C829F	probably benign	Het
Krtap19-4	T	C	16: 88,884,909	Y53C	unknown	Het
Lor	C	A	3: 92,081,398	G194C	unknown	Het
Lrp1	A	C	10: 127,557,228	D2720E	probably benign	Het
Lrp4	A	G	2: 91,492,023	Y1068C	probably damaging	Het
Mbnl1	A	G	3: 60,603,823	N67D	probably benign	Het
Mrpl21	A	G	19: 3,286,998	E123G	probably benign	Het
Mst1	A	T	9: 108,081,286	D65V	probably damaging	Het
Myo15b	T	A	11: 115,877,095		probably null	Het
Myo5a	A	G	9: 75,120,770	Y79C	probably damaging	Het
Oas1c	A	T	5: 120,802,892	W279R	probably damaging	Het
Olfr1283	A	T	2: 111,369,537	I302L	probably benign	Het
Olfr1291-ps1	A	T	2: 111,500,187	M312L	probably benign	Het
Olfr561	A	G	7: 102,781,706	I77V	probably benign	Het
Pcdh9	C	T	14: 93,015,780	G1149D	possibly damaging	Het
Pcid2	G	A	8: 13,079,907	T283I	probably benign	Het
Pdhx	A	G	2: 103,028,415	V348A	probably benign	Het
Pi16	C	A	17: 29,319,234	P7Q	possibly damaging	Het
Psmb3	T	A	11: 97,711,197	M131K	probably null	Het
Raph1	A	G	1: 60,502,873	Y309H	unknown	Het
Rasgrf1	A	G	9: 89,984,288	N593S	probably damaging	Het
Rbm38	A	C	2: 173,022,197	E53A	possibly damaging	Het
Rufy3	A	G	5: 88,649,856	T631A	probably benign	Het
Sbno1	A	T	5: 124,405,659	D272E	probably benign	Het
Scamp1	T	A	13: 94,224,907	Y207F	probably damaging	Het
Scn8a	T	A	15: 100,969,103	S263R	probably damaging	Het
Setbp1	T	G	18: 78,755,745	T1407P	probably damaging	Het
Skor2	T	C	18: 76,860,401	L606P	possibly damaging	Het
Slc35f6	A	G	5: 30,657,452	N241S	probably benign	Het
Slc36a2	T	G	11: 55,168,918	D247A	probably benign	Het
Smim10l1	T	A	6: 133,107,932	F87L	unknown	Het
Son	T	C	16: 91,665,001	S2265P	unknown	Het
Spta1	A	G	1: 174,222,637	N1748D	probably damaging	Het
Sptbn2	A	G	19: 4,724,173	D84G	probably damaging	Het
Tbc1d24	G	A	17: 24,185,292	R293C	probably damaging	Het
Tex15	A	G	8: 33,546,240	T65A	probably benign	Het
Thyn1	A	G	9: 27,005,210	Y97C	probably damaging	Het
Tmem64	T	C	4: 15,266,700	L250P	probably damaging	Het
Tnfrsf9	A	T	4: 150,935,534	K217N	probably damaging	Het
Tnxb	A	G	17: 34,679,065	T896A	probably benign	Het
Trpm1	T	A	7: 64,204,585	I285N	possibly damaging	Het
Try5	T	A	6: 41,311,703	D194V	probably damaging	Het
U2surp	G	A	9: 95,490,162	R316*	probably null	Het
Ubr2	G	T	17: 46,935,434	S1618*	probably null	Het
Ugp2	T	C	11: 21,323,271	I449M	probably damaging	Het
Vmn2r31	C	T	7: 7,387,106	V538I	probably benign	Het
Vmn2r31	A	T	7: 7,394,398	M287K	probably damaging	Het
Wwc2	A	G	8: 47,858,884	V748A	unknown	Het
Zfp800	A	C	6: 28,243,663	H434Q	probably benign	Het
Zfp869	A	G	8: 69,706,706	C406R	probably damaging	Het
Zhx1	A	G	15: 58,054,337	V171A	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- GTGTCAGTGTTACCATTCCTTG -3'
(R):5'- TGCGTCCTTGTTCCGAGTAC -3'

Sequencing Primer
(F):5'- GTCAGTGTTACCATTCCTTGTATAG -3'
(R):5'- TCCGAGTACTTGAGGGCAG -3'

Posted On

2019-06-26