Mutagenetix > Incidental Mutation

Incidental Mutation 'R9400:Umodl1'

711078

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 #

R9400 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30954679-31010708 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30996393 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1064 (T1064A)

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: T1064A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000067443
Gene: ENSMUSG00000054134
AA Change: T1064A

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

unknown
Transcript: ENSMUST00000066981
AA Change: T949A

SMART Domains

Protein: ENSMUSP00000065470
Gene: ENSMUSG00000054134
AA Change: T949A

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: T1064A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000110202
Gene: ENSMUSG00000054134
AA Change: T1064A

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	A	G	17: 8,992,286 (GRCm38)	N89S	probably benign	Het
9930111J21Rik1	C	T	11: 48,948,417 (GRCm38)	E448K	possibly damaging	Het
Acer1	G	A	17: 56,981,990 (GRCm38)	T40M	probably damaging	Het
Adam1a	T	C	5: 121,519,830 (GRCm38)	T467A	probably benign	Het
Agmat	A	G	4: 141,749,670 (GRCm38)	D129G	probably damaging	Het
Ak8	T	A	2: 28,759,999 (GRCm38)	I346N	probably benign	Het
Ankrd12	A	T	17: 65,984,880 (GRCm38)	V1186E	probably damaging	Het
Ankrd27	T	G	7: 35,616,857 (GRCm38)	L516R	probably damaging	Het
Aplp2	C	A	9: 31,164,559 (GRCm38)	R402L	possibly damaging	Het
Aspm	A	G	1: 139,479,903 (GRCm38)	Y2176C	probably damaging	Het
Boc	T	C	16: 44,499,481 (GRCm38)	D380G		Het
Celsr1	G	T	15: 86,033,085 (GRCm38)	S229*	probably null	Het
Chst2	T	C	9: 95,405,589 (GRCm38)	S235G	probably benign	Het
Clca4b	A	G	3: 144,911,192 (GRCm38)	V899A	probably benign	Het
Ddx1	A	G	12: 13,223,702 (GRCm38)	S617P	probably damaging	Het
Etv5	A	T	16: 22,401,726 (GRCm38)	F304I	probably benign	Het
Fmo9	T	G	1: 166,677,674 (GRCm38)	E50A	probably benign	Het
Gbp11	T	C	5: 105,330,975 (GRCm38)	E199G	probably damaging	Het
Gemin5	C	T	11: 58,137,715 (GRCm38)	G893D	probably damaging	Het
Gorab	G	T	1: 163,396,998 (GRCm38)	P78Q	probably damaging	Het
Gprc5a	A	G	6: 135,078,560 (GRCm38)	T2A	probably benign	Het
Gtf3c1	A	G	7: 125,676,511 (GRCm38)	I581T	probably damaging	Het
H6pd	A	G	4: 149,995,791 (GRCm38)	F199S	probably damaging	Het
Hdac3	A	T	18: 37,937,624 (GRCm38)	V426E	possibly damaging	Het
Jag2	G	T	12: 112,911,988 (GRCm38)	Y838*	probably null	Het
Kat6b	G	T	14: 21,609,758 (GRCm38)	R210L	probably damaging	Het
Kctd11	C	A	11: 69,879,718 (GRCm38)	E165*	probably null	Het
Knl1	T	C	2: 119,100,743 (GRCm38)	V1980A	probably damaging	Het
Lilr4b	T	C	10: 51,481,223 (GRCm38)	S52P	probably benign	Het
Lrp5	T	G	19: 3,585,272 (GRCm38)	M1535L	probably benign	Het
Lrr1	A	G	12: 69,174,702 (GRCm38)	D206G	probably benign	Het
Lrrd1	G	A	5: 3,849,677 (GRCm38)		probably benign	Het
Map3k6	C	A	4: 133,241,156 (GRCm38)	A23E	probably damaging	Het
Mgat4a	T	C	1: 37,462,944 (GRCm38)	D241G	probably damaging	Het
Mpzl3	A	G	9: 45,074,779 (GRCm38)	Y237C	possibly damaging	Het
Mroh1	A	G	15: 76,451,893 (GRCm38)	E1489G	possibly damaging	Het
Myocd	T	C	11: 65,196,108 (GRCm38)	H331R	probably benign	Het
Myoz1	T	A	14: 20,649,436 (GRCm38)	H278L	probably benign	Het
Olfr102	A	T	17: 37,313,663 (GRCm38)	C240*	probably null	Het
Olfr1199	A	G	2: 88,755,949 (GRCm38)	I242T	possibly damaging	Het
Olfr1441	C	A	19: 12,422,910 (GRCm38)	N200K	possibly damaging	Het
Olfr1449	T	A	19: 12,935,514 (GRCm38)	Y259N	probably damaging	Het
Olfr1454	T	A	19: 13,063,775 (GRCm38)	Y121*	probably null	Het
Olfr381	A	T	11: 73,485,981 (GRCm38)	V281E	probably damaging	Het
Otof	A	T	5: 30,383,519 (GRCm38)		probably null	Het
Pcdha1	A	G	18: 36,931,707 (GRCm38)	I475V	probably benign	Het
Pcgf1	A	G	6: 83,080,085 (GRCm38)	E199G	possibly damaging	Het
Pip	C	A	6: 41,851,848 (GRCm38)	T109K	probably benign	Het
Slc12a7	A	G	13: 73,784,570 (GRCm38)	E59G	probably benign	Het
Slc38a2	T	C	15: 96,693,172 (GRCm38)	I237V	probably benign	Het
Slc6a5	T	C	7: 49,945,519 (GRCm38)	V543A	probably benign	Het
Slc9a2	T	C	1: 40,719,051 (GRCm38)	V250A	possibly damaging	Het
Smarcad1	T	C	6: 65,073,230 (GRCm38)	Y278H	probably damaging	Het
Snx7	A	T	3: 117,837,214 (GRCm38)	N248K	probably benign	Het
Spata6	T	A	4: 111,720,231 (GRCm38)	C9S	probably benign	Het
Stra6l	T	A	4: 45,885,293 (GRCm38)	L587Q	probably damaging	Het
Tmem131l	G	T	3: 83,922,986 (GRCm38)	N916K	possibly damaging	Het
Tmprss11c	C	T	5: 86,237,657 (GRCm38)	V319I	probably benign	Het
Tpo	A	T	12: 30,119,442 (GRCm38)	I98K	possibly damaging	Het
Vldlr	T	C	19: 27,238,775 (GRCm38)	I332T	probably damaging	Het
Wdr75	T	A	1: 45,803,904 (GRCm38)	L133Q	probably damaging	Het
Zdhhc21	T	C	4: 82,835,450 (GRCm38)	N167S	probably benign	Het
Zfp37	A	T	4: 62,191,667 (GRCm38)	C428S	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
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
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'- TGTCTCCTTGGAACCTGCAG -3'
(R):5'- AGCTTAGAAGTCAGAGGCCCAG -3'

Sequencing Primer
(F):5'- AGGTGACCCTTCTGGCAACATG -3'
(R):5'- GGAGTGAATAAGAGCCTTCCTGGTC -3'

Posted On

2022-04-20