Mutagenetix > Incidental Mutation

Incidental Mutation 'R6702:Umodl1'

528836

Institutional Source

Beutler Lab

Gene Symbol

Umodl1

Ensembl Gene

ENSMUSG00000054134

Gene Name

uromodulin-like 1

Synonyms

D17Ertd488e

MMRRC Submission

044820-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6702 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30954679-31010708 bp(+) (GRCm38)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

A to G at 30986299 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000065470 (fasta)

Gene Model

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

AlphaFold

Q5DID3

Predicted Effect

probably benign
Transcript: ENSMUST00000066554
AA Change: M623V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000067443
Gene: ENSMUSG00000054134
AA Change: M623V

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 benign
Transcript: ENSMUST00000114555
AA Change: M623V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000110202
Gene: ENSMUSG00000054134
AA Change: M623V

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

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.5%

Validation Efficiency

97% (59/61)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	T	A	10: 21,621,659 (GRCm38)	Y66*	probably null	Het
Ak3	A	G	19: 29,026,227 (GRCm38)	V183A	probably damaging	Het
Ano10	G	T	9: 122,259,564 (GRCm38)	Q397K	possibly damaging	Het
Atg7	C	A	6: 114,671,097 (GRCm38)		probably null	Het
Brpf3	A	C	17: 28,810,659 (GRCm38)	N531T	probably benign	Het
Casp2	T	C	6: 42,268,051 (GRCm38)	V128A	probably benign	Het
Cdcp2	T	C	4: 107,107,086 (GRCm38)	C378R	probably benign	Het
Cfap54	T	A	10: 92,868,734 (GRCm38)	D2828V	unknown	Het
Col6a3	T	C	1: 90,779,439 (GRCm38)	D1984G	unknown	Het
Csnk2a1	A	G	2: 152,258,688 (GRCm38)	T93A	probably benign	Het
Ddx54	T	A	5: 120,626,503 (GRCm38)	D758E	possibly damaging	Het
Dlx2	A	G	2: 71,546,227 (GRCm38)	S56P	probably damaging	Het
Dna2	T	A	10: 62,973,294 (GRCm38)	I1055N	possibly damaging	Het
Dnah10	A	G	5: 124,805,805 (GRCm38)	Y2909C	probably damaging	Het
Dnm3	A	G	1: 162,318,687 (GRCm38)	F296L	probably benign	Het
Fat1	A	G	8: 44,953,046 (GRCm38)	T945A	probably benign	Het
Herpud1	T	C	8: 94,392,526 (GRCm38)		probably null	Het
Iqub	T	A	6: 24,449,745 (GRCm38)	N707I	probably damaging	Het
Kif26b	C	G	1: 178,917,287 (GRCm38)	S1649R	possibly damaging	Het
Lamp5	C	G	2: 136,059,563 (GRCm38)	N102K	possibly damaging	Het
Ltbr	A	G	6: 125,308,068 (GRCm38)	S290P	probably benign	Het
Map4k1	T	G	7: 29,002,396 (GRCm38)	S803A	possibly damaging	Het
Mef2c	T	A	13: 83,625,406 (GRCm38)	C134S	possibly damaging	Het
Myo15a	A	G	11: 60,492,992 (GRCm38)	I1622V	probably benign	Het
Nbea	A	G	3: 56,005,502 (GRCm38)	Y955H	probably benign	Het
Ndor1	A	G	2: 25,249,890 (GRCm38)	F142S	possibly damaging	Het
Nynrin	A	G	14: 55,864,478 (GRCm38)	T535A	possibly damaging	Het
Or4k15	A	G	14: 50,127,231 (GRCm38)	Y218C	probably damaging	Het
Or4k42	T	A	2: 111,490,109 (GRCm38)		probably null	Het
Or5ac23	C	T	16: 59,328,598 (GRCm38)	V304I	probably benign	Het
Or5d46	G	A	2: 88,340,242 (GRCm38)	V226I	probably benign	Het
Or8b51	A	T	9: 38,657,777 (GRCm38)	I205N	possibly damaging	Het
Pcdhb13	T	G	18: 37,444,775 (GRCm38)	H735Q	probably benign	Het
Pcdhb7	A	T	18: 37,341,906 (GRCm38)	M32L	probably benign	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm38)		probably benign	Het
Per2	C	T	1: 91,427,949 (GRCm38)	E696K	probably damaging	Het
Pld4	T	C	12: 112,765,051 (GRCm38)	S213P	probably damaging	Het
Prkg1	T	A	19: 30,993,084 (GRCm38)	H209L	probably benign	Het
Psg16	T	C	7: 17,090,396 (GRCm38)	L35P	probably damaging	Het
Pxn	C	T	5: 115,551,896 (GRCm38)	L160F	probably benign	Het
Rab3a	A	G	8: 70,756,448 (GRCm38)	D77G	probably damaging	Het
Resf1	T	A	6: 149,327,878 (GRCm38)	N807K	probably damaging	Het
Rgma	A	T	7: 73,417,320 (GRCm38)	T108S	probably damaging	Het
Rxrg	A	G	1: 167,613,805 (GRCm38)	S51G	probably benign	Het
S1pr3	A	T	13: 51,419,439 (GRCm38)	I219F	probably damaging	Het
Sec23b	A	T	2: 144,559,189 (GRCm38)		probably null	Het
Sfrp5	G	T	19: 42,201,827 (GRCm38)	T62K	probably benign	Het
Slco1a6	T	A	6: 142,103,100 (GRCm38)	Y318F	probably damaging	Het
Slit1	A	C	19: 41,614,870 (GRCm38)	S931A	possibly damaging	Het
Sorl1	A	T	9: 42,071,201 (GRCm38)	V361E	probably damaging	Het
St6galnac2	A	G	11: 116,684,387 (GRCm38)	S209P	probably benign	Het
Supt6	C	A	11: 78,231,800 (GRCm38)	R199L	possibly damaging	Het
Tas2r107	A	C	6: 131,659,384 (GRCm38)	M234R	probably benign	Het
Tmem72	C	G	6: 116,698,349 (GRCm38)	V61L	probably benign	Het
Trpm5	C	A	7: 143,069,318 (GRCm38)		probably benign	Het
Ttn	T	G	2: 76,720,112 (GRCm38)	T23282P	probably damaging	Het
Ubap2	GCCCGCTTGCCCCGCT	GCCCGCTTGCCCCGCTTGCCCCGCT	4: 41,227,210 (GRCm38)		probably benign	Het
Ubr3	A	T	2: 69,956,049 (GRCm38)	R836W	probably benign	Het
Ythdf1	A	G	2: 180,919,133 (GRCm38)		probably null	Het
Zfp780b	T	C	7: 27,971,641 (GRCm38)	T81A	possibly damaging	Het
Zfp811	T	C	17: 32,797,842 (GRCm38)	E407G	probably damaging	Het

Other mutations in Umodl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00915:Umodl1	APN	17	31,008,750 (GRCm38)	utr 3 prime	probably benign
IGL01344:Umodl1	APN	17	30,996,264 (GRCm38)	missense	probably damaging	0.99
IGL01529:Umodl1	APN	17	30,996,259 (GRCm38)	missense	possibly damaging	0.94
IGL01609:Umodl1	APN	17	30,998,826 (GRCm38)	missense	possibly damaging	0.90
IGL01625:Umodl1	APN	17	30,996,255 (GRCm38)	missense	probably benign	0.00
IGL01877:Umodl1	APN	17	30,982,320 (GRCm38)	missense	probably benign	0.00
IGL01977:Umodl1	APN	17	30,973,768 (GRCm38)	missense	probably damaging	0.99
IGL02063:Umodl1	APN	17	30,987,914 (GRCm38)	missense	probably benign	0.07
IGL02160:Umodl1	APN	17	30,986,117 (GRCm38)	missense	probably damaging	0.97
IGL02252:Umodl1	APN	17	30,994,815 (GRCm38)	critical splice donor site	probably null
IGL02427:Umodl1	APN	17	30,968,441 (GRCm38)	splice site	probably benign
IGL02496:Umodl1	APN	17	30,998,654 (GRCm38)	missense	probably damaging	0.99
IGL02633:Umodl1	APN	17	30,989,488 (GRCm38)	missense	probably damaging	1.00
IGL03271:Umodl1	APN	17	30,986,499 (GRCm38)	nonsense	probably null
IGL03392:Umodl1	APN	17	30,996,355 (GRCm38)	missense	probably damaging	0.98
Disquieting	UTSW	17	30,959,155 (GRCm38)	missense	probably damaging	1.00
floored	UTSW	17	30,988,057 (GRCm38)	nonsense	probably null
R7231_umodl1_507	UTSW	17	30,986,116 (GRCm38)	missense	probably damaging	1.00
surprising	UTSW	17	30,986,465 (GRCm38)	missense	possibly damaging	0.77
unsettling	UTSW	17	30,986,554 (GRCm38)	nonsense	probably null
G1citation:Umodl1	UTSW	17	30,986,554 (GRCm38)	nonsense	probably null
PIT4468001:Umodl1	UTSW	17	30,959,278 (GRCm38)	missense	probably damaging	1.00
R0048:Umodl1	UTSW	17	30,968,477 (GRCm38)	missense	probably damaging	1.00
R0048:Umodl1	UTSW	17	30,968,477 (GRCm38)	missense	probably damaging	1.00
R0653:Umodl1	UTSW	17	30,984,028 (GRCm38)	missense	probably benign	0.00
R0831:Umodl1	UTSW	17	30,996,351 (GRCm38)	missense	probably damaging	1.00
R1078:Umodl1	UTSW	17	30,959,373 (GRCm38)	missense	probably benign	0.00
R1166:Umodl1	UTSW	17	31,002,798 (GRCm38)	splice site	probably benign
R1231:Umodl1	UTSW	17	30,959,278 (GRCm38)	missense	probably damaging	1.00
R1459:Umodl1	UTSW	17	30,986,504 (GRCm38)	missense	probably benign	0.05
R1459:Umodl1	UTSW	17	30,982,258 (GRCm38)	splice site	probably benign
R1510:Umodl1	UTSW	17	30,959,229 (GRCm38)	missense	probably damaging	1.00
R1654:Umodl1	UTSW	17	30,987,968 (GRCm38)	missense	probably benign
R1757:Umodl1	UTSW	17	31,008,700 (GRCm38)	missense	probably damaging	0.99
R1781:Umodl1	UTSW	17	30,968,550 (GRCm38)	missense	probably damaging	1.00
R1873:Umodl1	UTSW	17	30,982,264 (GRCm38)	missense	probably damaging	0.99
R1911:Umodl1	UTSW	17	30,992,154 (GRCm38)	missense	possibly damaging	0.74
R1917:Umodl1	UTSW	17	30,984,043 (GRCm38)	missense	probably damaging	1.00
R1918:Umodl1	UTSW	17	30,984,043 (GRCm38)	missense	probably damaging	1.00
R2057:Umodl1	UTSW	17	31,008,766 (GRCm38)	critical splice donor site	probably null
R2058:Umodl1	UTSW	17	31,008,766 (GRCm38)	critical splice donor site	probably null
R2089:Umodl1	UTSW	17	30,971,919 (GRCm38)	missense	probably benign	0.00
R2091:Umodl1	UTSW	17	30,971,919 (GRCm38)	missense	probably benign	0.00
R2091:Umodl1	UTSW	17	30,971,919 (GRCm38)	missense	probably benign	0.00
R2431:Umodl1	UTSW	17	30,992,088 (GRCm38)	missense	possibly damaging	0.79
R2903:Umodl1	UTSW	17	30,992,173 (GRCm38)	missense	probably damaging	1.00
R3032:Umodl1	UTSW	17	30,989,528 (GRCm38)	missense	probably benign	0.01
R3956:Umodl1	UTSW	17	31,002,863 (GRCm38)	missense	probably benign	0.10
R3975:Umodl1	UTSW	17	30,984,789 (GRCm38)	nonsense	probably null
R4207:Umodl1	UTSW	17	30,959,367 (GRCm38)	missense	probably damaging	1.00
R4287:Umodl1	UTSW	17	30,988,065 (GRCm38)	missense	probably benign	0.11
R4452:Umodl1	UTSW	17	30,994,815 (GRCm38)	critical splice donor site	probably null
R4684:Umodl1	UTSW	17	30,998,114 (GRCm38)	missense	probably benign	0.00
R4769:Umodl1	UTSW	17	30,984,002 (GRCm38)	missense	possibly damaging	0.92
R4887:Umodl1	UTSW	17	31,008,665 (GRCm38)	missense	probably benign	0.06
R4888:Umodl1	UTSW	17	30,999,201 (GRCm38)	missense	probably damaging	1.00
R4978:Umodl1	UTSW	17	30,986,081 (GRCm38)	missense	probably benign
R4993:Umodl1	UTSW	17	30,986,485 (GRCm38)	missense	probably benign	0.00
R5241:Umodl1	UTSW	17	30,984,092 (GRCm38)	missense	probably benign	0.18
R5254:Umodl1	UTSW	17	30,980,359 (GRCm38)	missense	possibly damaging	0.86
R5454:Umodl1	UTSW	17	30,986,465 (GRCm38)	missense	possibly damaging	0.77
R5456:Umodl1	UTSW	17	30,982,289 (GRCm38)	missense	probably benign	0.04
R5754:Umodl1	UTSW	17	30,994,787 (GRCm38)	missense	probably damaging	0.96
R6189:Umodl1	UTSW	17	30,996,282 (GRCm38)	missense	possibly damaging	0.75
R6222:Umodl1	UTSW	17	31,002,892 (GRCm38)	critical splice donor site	probably null
R6289:Umodl1	UTSW	17	30,982,351 (GRCm38)	missense	probably benign	0.16
R6432:Umodl1	UTSW	17	30,986,147 (GRCm38)	missense	probably benign	0.38
R6478:Umodl1	UTSW	17	30,959,155 (GRCm38)	missense	probably damaging	1.00
R6822:Umodl1	UTSW	17	30,986,554 (GRCm38)	nonsense	probably null
R6999:Umodl1	UTSW	17	30,999,123 (GRCm38)	missense	probably damaging	1.00
R7067:Umodl1	UTSW	17	30,982,272 (GRCm38)	missense	probably damaging	1.00
R7123:Umodl1	UTSW	17	30,982,344 (GRCm38)	missense	possibly damaging	0.90
R7219:Umodl1	UTSW	17	30,982,262 (GRCm38)	critical splice acceptor site	probably null
R7231:Umodl1	UTSW	17	30,986,116 (GRCm38)	missense	probably damaging	1.00
R7234:Umodl1	UTSW	17	30,986,621 (GRCm38)	missense	possibly damaging	0.87
R7297:Umodl1	UTSW	17	31,008,665 (GRCm38)	missense	probably benign	0.06
R7392:Umodl1	UTSW	17	30,982,332 (GRCm38)	missense	probably damaging	0.99
R7401:Umodl1	UTSW	17	30,998,148 (GRCm38)	missense	probably damaging	1.00
R7461:Umodl1	UTSW	17	30,988,057 (GRCm38)	nonsense	probably null
R7594:Umodl1	UTSW	17	30,954,805 (GRCm38)	missense	probably benign	0.02
R7613:Umodl1	UTSW	17	30,988,057 (GRCm38)	nonsense	probably null
R7763:Umodl1	UTSW	17	30,986,456 (GRCm38)	missense	probably benign	0.24
R7797:Umodl1	UTSW	17	30,959,151 (GRCm38)	missense	probably benign	0.02
R7832:Umodl1	UTSW	17	30,973,692 (GRCm38)	critical splice acceptor site	probably null
R7954:Umodl1	UTSW	17	30,986,387 (GRCm38)	missense	probably benign	0.00
R8088:Umodl1	UTSW	17	30,973,796 (GRCm38)	missense	probably benign	0.29
R8111:Umodl1	UTSW	17	30,971,818 (GRCm38)	missense	probably damaging	0.99
R8314:Umodl1	UTSW	17	30,984,832 (GRCm38)	missense	probably damaging	0.99
R8826:Umodl1	UTSW	17	30,983,984 (GRCm38)	missense	possibly damaging	0.65
R9067:Umodl1	UTSW	17	30,973,703 (GRCm38)	missense	probably damaging	1.00
R9091:Umodl1	UTSW	17	30,966,704 (GRCm38)	missense	probably damaging	1.00
R9099:Umodl1	UTSW	17	30,959,173 (GRCm38)	missense	probably benign	0.01
R9270:Umodl1	UTSW	17	30,966,704 (GRCm38)	missense	probably damaging	1.00
R9341:Umodl1	UTSW	17	30,998,727 (GRCm38)	missense	possibly damaging	0.95
R9343:Umodl1	UTSW	17	30,998,727 (GRCm38)	missense	possibly damaging	0.95
R9400:Umodl1	UTSW	17	30,996,393 (GRCm38)	missense	probably damaging	0.99
R9569:Umodl1	UTSW	17	30,998,169 (GRCm38)	missense	probably damaging	1.00
R9615:Umodl1	UTSW	17	30,998,178 (GRCm38)	missense	possibly damaging	0.94
R9787:Umodl1	UTSW	17	30,959,350 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCTGTAACAACGAAGGTCACAG -3'
(R):5'- ATAGCCCGTGGTTGTAGCAG -3'

Sequencing Primer
(F):5'- AAGGTCACAGTCCCAGCTG -3'
(R):5'- CCCGTGGTTGTAGCAGTCAGG -3'

Posted On

2018-07-24