Mutagenetix > Incidental Mutation

Incidental Mutation 'R8111:Umodl1'

630899

Institutional Source

Beutler Lab

Gene Symbol

Umodl1

Ensembl Gene

ENSMUSG00000054134

Gene Name

uromodulin-like 1

Synonyms

D17Ertd488e

MMRRC Submission

067540-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8111 (G1)

Quality Score

181.009

Status

Not validated

Chromosome

Chromosomal Location

30954679-31010708 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30971818 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 213 (V213A)

Ref Sequence

ENSEMBL: ENSMUSP00000067443 (fasta)

Gene Model

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

AlphaFold

Q5DID3

Predicted Effect

probably damaging
Transcript: ENSMUST00000066554
AA Change: V213A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000067443
Gene: ENSMUSG00000054134
AA Change: V213A

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: V213A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000065470
Gene: ENSMUSG00000054134
AA Change: V213A

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: V213A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000110202
Gene: ENSMUSG00000054134
AA Change: V213A

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: 98.7%
20x: 93.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	C	T	14: 32,660,309 (GRCm38)	W1233*	probably null	Het
4930590J08Rik	A	G	6: 91,917,710 (GRCm38)	I247V	probably benign	Het
8030423J24Rik	T	A	13: 70,883,958 (GRCm38)	C50S	unknown	Het
Adam29	T	G	8: 55,871,550 (GRCm38)	H623P	probably benign	Het
Adamts5	A	G	16: 85,899,315 (GRCm38)	V318A	probably damaging	Het
Ano3	T	C	2: 110,783,713 (GRCm38)	D215G	possibly damaging	Het
Ap3b2	A	G	7: 81,463,782 (GRCm38)	I893T	unknown	Het
Apob	G	A	12: 8,008,801 (GRCm38)	A2428T	probably benign	Het
Armc3	T	C	2: 19,296,863 (GRCm38)	V660A	probably benign	Het
Atf7	G	T	15: 102,563,334 (GRCm38)	T42K	probably damaging	Het
Atg9a	A	T	1: 75,187,722 (GRCm38)	I160N	probably damaging	Het
Atp2b1	T	C	10: 98,996,924 (GRCm38)	V429A	possibly damaging	Het
Bpifb3	A	C	2: 153,922,689 (GRCm38)	H167P	probably benign	Het
Cacna1f	G	T	X: 7,621,087 (GRCm38)	E921D	probably damaging	Het
Ccdc57	T	A	11: 120,878,887 (GRCm38)	L713F	probably damaging	Het
Chd1l	C	T	3: 97,587,210 (GRCm38)	E385K	possibly damaging	Het
Csmd1	C	T	8: 15,917,306 (GRCm38)	V3186I	probably benign	Het
Dclre1c	T	A	2: 3,447,148 (GRCm38)	D349E	probably benign	Het
Dlg1	C	T	16: 31,842,802 (GRCm38)	T657M	possibly damaging	Het
Dync2h1	T	C	9: 7,148,688 (GRCm38)	I919V	probably benign	Het
Dync2i2	C	A	2: 30,031,847 (GRCm38)	A501S	possibly damaging	Het
Eml5	A	G	12: 98,792,514 (GRCm38)		probably null	Het
Epas1	C	A	17: 86,818,432 (GRCm38)	S286*	probably null	Het
Fat1	G	A	8: 45,026,058 (GRCm38)	V2714I	possibly damaging	Het
Fuca2	T	C	10: 13,514,801 (GRCm38)	M447T	probably benign	Het
Gm10800	CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA	CAAGAAAACTGAAAATCA	2: 98,667,016 (GRCm38)		probably null	Het
Gm11110	A	C	17: 57,103,427 (GRCm38)	C24G	probably null	Het
Gm6176	T	A	7: 22,051,168 (GRCm38)	I113F	probably benign	Het
Gmcl1	G	T	6: 86,721,426 (GRCm38)	A163E	probably damaging	Het
Gpat2	G	T	2: 127,433,857 (GRCm38)	L518F	probably damaging	Het
Gpr137b	T	C	13: 13,359,406 (GRCm38)	Y355C		Het
Hgsnat	C	T	8: 25,968,412 (GRCm38)	V195I	probably benign	Het
Hivep3	T	A	4: 120,098,386 (GRCm38)	S1300T	probably damaging	Het
Hs3st2	A	T	7: 121,393,139 (GRCm38)	H137L	probably damaging	Het
Iffo1	T	C	6: 125,145,818 (GRCm38)	S188P	possibly damaging	Het
Itih1	T	C	14: 30,932,268 (GRCm38)	D684G	probably damaging	Het
Lrba	C	A	3: 86,327,705 (GRCm38)	N852K	probably damaging	Het
Lrriq4	T	C	3: 30,655,781 (GRCm38)	S425P	possibly damaging	Het
Mdn1	T	A	4: 32,674,003 (GRCm38)	S562T	possibly damaging	Het
Mex3a	T	C	3: 88,536,757 (GRCm38)	V380A	probably benign	Het
Mgat4d	A	T	8: 83,368,147 (GRCm38)	N271I	probably damaging	Het
Mmp24	T	A	2: 155,807,425 (GRCm38)	V254E	possibly damaging	Het
Muc16	T	A	9: 18,592,629 (GRCm38)	R6455S	possibly damaging	Het
Npffr1	T	A	10: 61,623,349 (GRCm38)	V127E	probably damaging	Het
Obox5	T	A	7: 15,758,616 (GRCm38)	N165K	probably damaging	Het
Or10g3b	G	A	14: 52,349,887 (GRCm38)	T53M	possibly damaging	Het
Otulin	A	C	15: 27,606,295 (GRCm38)	V344G	probably damaging	Het
Pappa	A	G	4: 65,261,992 (GRCm38)	D1030G	probably damaging	Het
Pdzd2	G	A	15: 12,373,506 (GRCm38)	S2181L	probably benign	Het
Ppp2r3c	C	A	12: 55,297,849 (GRCm38)	M111I	probably benign	Het
Prss37	T	C	6: 40,517,813 (GRCm38)	T13A	probably benign	Het
Sfi1	TCGC	TC	11: 3,146,254 (GRCm38)		probably null	Het
Sgo2b	T	A	8: 63,943,104 (GRCm38)	K39N	probably damaging	Het
Sike1	T	C	3: 103,001,807 (GRCm38)	*208Q	probably null	Het
Spire1	A	G	18: 67,519,321 (GRCm38)	S229P	probably damaging	Het
Tmem132b	A	G	5: 125,622,793 (GRCm38)	I132V	probably benign	Het
Washc1	C	G	17: 66,116,038 (GRCm38)	Q116E	probably benign	Het
Zfp553	T	A	7: 127,236,921 (GRCm38)	C549*	probably null	Het
Zfp9	G	A	6: 118,464,600 (GRCm38)	P367L	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
R6702:Umodl1	UTSW	17	30,986,299 (GRCm38)	splice site	probably null
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
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'- CTTTACTGTTGGGTAGACAAGTGC -3'
(R):5'- TAGCCTCAGAGTCTGCTTGG -3'

Sequencing Primer
(F):5'- GTAGACAAGTGCATATGTGTGC -3'
(R):5'- TTGGCAGTGTCCCCAGAG -3'

Posted On

2020-06-30