Mutagenetix > Incidental Mutation

Incidental Mutation 'G1citation:Umodl1'

660755

Institutional Source

Beutler Lab

Gene Symbol

Umodl1

Ensembl Gene

ENSMUSG00000054134

Gene Name

uromodulin-like 1

Synonyms

D17Ertd488e

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

G1citation (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30954679-31010708 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 30986554 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 708 (Q708*)

Ref Sequence

ENSEMBL: ENSMUSP00000110202 (fasta)

Gene Model

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

AlphaFold

Q5DID3

Predicted Effect

probably null
Transcript: ENSMUST00000066554
AA Change: Q708*

SMART Domains

Protein: ENSMUSP00000067443
Gene: ENSMUSG00000054134
AA Change: Q708*

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
AA Change: Q679*

SMART Domains

Protein: ENSMUSP00000065470
Gene: ENSMUSG00000054134
AA Change: Q679*

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
AA Change: Q708*

SMART Domains

Protein: ENSMUSP00000110202
Gene: ENSMUSG00000054134
AA Change: Q708*

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

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

94% (46/49)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam11	G	A	11: 102,776,675 (GRCm38)	R687Q	possibly damaging	Het
AI987944	A	G	7: 41,374,808 (GRCm38)	L249P	probably damaging	Het
Ankrd28	T	A	14: 31,736,840 (GRCm38)		probably null	Het
Bahcc1	T	C	11: 120,287,721 (GRCm38)	S2369P	probably damaging	Het
Birc6	A	T	17: 74,598,044 (GRCm38)	K1277N	probably damaging	Het
Birc6	T	C	17: 74,580,382 (GRCm38)	S902P	possibly damaging	Het
Brwd1	T	C	16: 96,041,274 (GRCm38)	E821G	probably benign	Het
Cct8l1	T	C	5: 25,517,939 (GRCm38)	S551P	possibly damaging	Het
Cmtm1	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	8: 104,309,702 (GRCm38)		probably null	Het
Cyp2c39	A	T	19: 39,536,817 (GRCm38)	D188V	probably damaging	Het
Dclk3	G	T	9: 111,439,337 (GRCm38)	A25S	probably benign	Het
Dpep2	A	T	8: 105,985,241 (GRCm38)	M518K	probably benign	Het
Dst	T	C	1: 34,275,674 (GRCm38)	V6462A	probably damaging	Het
Entpd3	T	C	9: 120,562,038 (GRCm38)		probably null	Het
Epm2aip1	T	C	9: 111,272,556 (GRCm38)	V199A	probably damaging	Het
Fam193b	A	G	13: 55,541,691 (GRCm38)		probably benign	Het
Fam50b	G	A	13: 34,747,101 (GRCm38)	E187K	possibly damaging	Het
Fat1	A	G	8: 45,026,404 (GRCm38)	D2829G	probably damaging	Het
Fcgbp	T	A	7: 28,107,356 (GRCm38)	Y2250N	probably damaging	Het
Grik5	C	T	7: 25,046,355 (GRCm38)	R431Q	possibly damaging	Het
H2-Aa	C	T	17: 34,287,677 (GRCm38)		probably null	Het
Igsf9	T	A	1: 172,497,163 (GRCm38)	S883T	possibly damaging	Het
Kcnh7	T	G	2: 62,787,904 (GRCm38)	I414L	probably damaging	Het
Kcnma1	T	C	14: 24,003,744 (GRCm38)		probably null	Het
Kcnmb1	T	C	11: 33,964,686 (GRCm38)		probably benign	Het
Kmt2d	A	G	15: 98,849,459 (GRCm38)		probably benign	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,189,077 (GRCm38)		probably benign	Het
Nlgn1	T	C	3: 26,133,647 (GRCm38)	T30A	probably benign	Het
Nucb1	A	G	7: 45,498,865 (GRCm38)	F175L	probably damaging	Het
Pax6	T	A	2: 105,685,923 (GRCm38)	V182E	probably benign	Het
Ptger1	A	G	8: 83,668,650 (GRCm38)	D252G	probably benign	Het
Rexo4	T	C	2: 26,960,271 (GRCm38)	D275G	probably damaging	Het
Ripk4	T	C	16: 97,746,036 (GRCm38)	D342G	probably damaging	Het
Rpl10l	A	T	12: 66,284,213 (GRCm38)	C49S	possibly damaging	Het
Sema7a	T	C	9: 57,960,336 (GRCm38)	F457S	probably damaging	Het
Shank3	G	A	15: 89,531,627 (GRCm38)	D155N	probably damaging	Het
Smpd3	G	A	8: 106,265,964 (GRCm38)		probably benign	Het
Smpd4	T	C	16: 17,640,233 (GRCm38)	V465A	probably damaging	Het
Sohlh2	T	C	3: 55,207,686 (GRCm38)	V364A	probably damaging	Het
Sos2	C	T	12: 69,650,649 (GRCm38)	R99Q	probably damaging	Het
Spry2	G	A	14: 105,893,357 (GRCm38)	Q132*	probably null	Het
Tbx19	G	T	1: 165,140,140 (GRCm38)	P346Q	probably damaging	Het
Tdrd6	A	G	17: 43,627,215 (GRCm38)	Y981H	probably damaging	Het
Tinag	T	C	9: 77,031,702 (GRCm38)	K165E	probably benign	Het
Tubb4a	A	T	17: 57,080,904 (GRCm38)	I374N	probably damaging	Het
Vmn2r3	A	T	3: 64,287,455 (GRCm38)	V14E	probably benign	Het
Zfp82	G	A	7: 30,056,287 (GRCm38)	L457F	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
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
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'- TGGGGTGACAAGCTCTGTTC -3'
(R):5'- GTCTGAGCCCACCTATGTTCAAG -3'

Sequencing Primer
(F):5'- GTGACAAGCTCTGTTCCCTGG -3'
(R):5'- TGAGCCCACCTATGTTCAAGATGAG -3'

Posted On

2021-02-01