Mutagenetix > Incidental Mutation

Incidental Mutation 'R4978:Umodl1'

384632

Institutional Source

Beutler Lab

Gene Symbol

Umodl1

Ensembl Gene

ENSMUSG00000054134

Gene Name

uromodulin-like 1

Synonyms

D17Ertd488e

MMRRC Submission

042573-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4978 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31173614-31229684 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31205055 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 550 (I550T)

Ref Sequence

ENSEMBL: ENSMUSP00000110202 (fasta)

Gene Model

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

AlphaFold

Q5DID3

Predicted Effect

probably benign
Transcript: ENSMUST00000066554
AA Change: I550T

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

SMART Domains

Protein: ENSMUSP00000067443
Gene: ENSMUSG00000054134
AA Change: I550T

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 benign
Transcript: ENSMUST00000066981
AA Change: I550T

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

SMART Domains

Protein: ENSMUSP00000065470
Gene: ENSMUSG00000054134
AA Change: I550T

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: I550T

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

SMART Domains

Protein: ENSMUSP00000110202
Gene: ENSMUSG00000054134
AA Change: I550T

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

96% (70/73)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	G	A	8: 56,324,436 (GRCm39)	P673S	probably damaging	Het
Adam39	T	C	8: 41,278,374 (GRCm39)	I255T	possibly damaging	Het
Adgrg6	A	G	10: 14,296,205 (GRCm39)	F1093S	probably damaging	Het
Amer3	A	G	1: 34,618,381 (GRCm39)		probably benign	Het
Avil	A	T	10: 126,854,265 (GRCm39)	N744I	probably benign	Het
B430305J03Rik	T	C	3: 61,271,440 (GRCm39)		probably benign	Het
Caps2	A	T	10: 112,018,399 (GRCm39)	Q141L	probably benign	Het
Capza2	T	A	6: 17,662,114 (GRCm39)	D201E	probably null	Het
Ccdc7b	T	C	8: 129,836,688 (GRCm39)		probably null	Het
Clcn6	C	T	4: 148,093,227 (GRCm39)	V818I	probably benign	Het
Cpeb4	C	T	11: 31,881,509 (GRCm39)	H723Y	probably null	Het
Cspp1	T	A	1: 10,153,742 (GRCm39)	F384I	possibly damaging	Het
Cyp2c50	T	G	19: 40,086,501 (GRCm39)	V355G	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Dpys	A	T	15: 39,690,332 (GRCm39)	D340E	possibly damaging	Het
Dsp	T	A	13: 38,366,210 (GRCm39)	L548Q	probably damaging	Het
Dyrk2	A	T	10: 118,696,252 (GRCm39)	D335E	probably benign	Het
Etaa1	T	C	11: 17,896,581 (GRCm39)	D512G	probably damaging	Het
Fam210b	G	C	2: 172,187,585 (GRCm39)	A2P	probably damaging	Het
Fbxo9	G	A	9: 77,993,168 (GRCm39)		probably benign	Het
Fh1	A	T	1: 175,431,533 (GRCm39)	M451K	probably damaging	Het
Flrt1	A	G	19: 7,074,241 (GRCm39)	L102P	probably damaging	Het
Gins2	A	G	8: 121,315,550 (GRCm39)	L40S	possibly damaging	Het
Gm5436	G	A	12: 84,305,461 (GRCm39)		noncoding transcript	Het
Gm7298	T	G	6: 121,710,076 (GRCm39)		probably null	Het
Gm7353	A	G	7: 3,160,038 (GRCm39)		noncoding transcript	Het
Gramd1a	T	C	7: 30,832,213 (GRCm39)	E608G	possibly damaging	Het
Hcls1	T	C	16: 36,758,222 (GRCm39)	W38R	probably damaging	Het
Ik	C	T	18: 36,880,468 (GRCm39)	P51S	possibly damaging	Het
Irx1	A	G	13: 72,111,604 (GRCm39)	S2P	possibly damaging	Het
Kng2	T	A	16: 22,806,666 (GRCm39)	N511I	probably damaging	Het
Limk2	G	T	11: 3,359,069 (GRCm39)		probably benign	Het
Map1a	T	G	2: 121,131,623 (GRCm39)	V813G	probably benign	Het
Mast1	T	C	8: 85,662,416 (GRCm39)	T31A	probably damaging	Het
N4bp2	T	C	5: 65,947,583 (GRCm39)	F71S	probably damaging	Het
Neurod1	C	T	2: 79,284,571 (GRCm39)	G271R	probably damaging	Het
Or52x1	T	C	7: 104,853,398 (GRCm39)	I51V	probably benign	Het
Pcdhb22	A	G	18: 37,651,654 (GRCm39)	T41A	probably benign	Het
Pclo	T	A	5: 14,764,492 (GRCm39)	S4322T	probably benign	Het
Pde9a	T	A	17: 31,692,197 (GRCm39)	D497E	probably benign	Het
Plaa	A	G	4: 94,478,169 (GRCm39)	S98P	possibly damaging	Het
Prl2c1	A	G	13: 28,041,553 (GRCm39)	T192A	probably benign	Het
Ptpn18	T	C	1: 34,508,894 (GRCm39)		probably benign	Het
Rab27b	C	T	18: 70,127,585 (GRCm39)	V68I	probably benign	Het
Reep5	A	G	18: 34,506,349 (GRCm39)	F9S	probably damaging	Het
Scaf11	T	C	15: 96,313,798 (GRCm39)	N1328D	probably damaging	Het
Slc25a13	G	A	6: 6,042,300 (GRCm39)	S626F	probably damaging	Het
Smg1	A	G	7: 117,753,470 (GRCm39)		probably benign	Het
Spock2	T	A	10: 59,966,911 (GRCm39)	F332I	probably benign	Het
Tep1	C	T	14: 51,082,891 (GRCm39)	R1039Q	possibly damaging	Het
Thap1	AGCAGCATCTGCTCG	AG	8: 26,650,882 (GRCm39)		probably null	Het
Tradd	T	C	8: 105,985,900 (GRCm39)	Q217R	probably benign	Het
Vgll3	T	A	16: 65,612,572 (GRCm39)	Y18*	probably null	Het
Vmn1r49	G	T	6: 90,049,872 (GRCm39)	N43K	probably benign	Het
Vps50	A	G	6: 3,517,808 (GRCm39)	N82S	probably benign	Het
Vstm2a	A	G	11: 16,211,460 (GRCm39)	D90G	possibly damaging	Het
Vwa3b	A	G	1: 37,154,752 (GRCm39)	Y512C	probably damaging	Het
Wrnip1	A	G	13: 33,000,295 (GRCm39)	D434G	probably damaging	Het
Zan	C	T	5: 137,405,183 (GRCm39)		probably benign	Het
Zfp286	A	G	11: 62,679,754 (GRCm39)		probably null	Het
Zkscan17	A	G	11: 59,384,053 (GRCm39)	V123A	possibly damaging	Het
Zkscan2	C	G	7: 123,094,542 (GRCm39)	A211P	possibly damaging	Het
Zswim4	C	T	8: 84,953,296 (GRCm39)		probably null	Het

Other mutations in Umodl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00915:Umodl1	APN	17	31,227,724 (GRCm39)	utr 3 prime	probably benign
IGL01344:Umodl1	APN	17	31,215,238 (GRCm39)	missense	probably damaging	0.99
IGL01529:Umodl1	APN	17	31,215,233 (GRCm39)	missense	possibly damaging	0.94
IGL01609:Umodl1	APN	17	31,217,800 (GRCm39)	missense	possibly damaging	0.90
IGL01625:Umodl1	APN	17	31,215,229 (GRCm39)	missense	probably benign	0.00
IGL01877:Umodl1	APN	17	31,201,294 (GRCm39)	missense	probably benign	0.00
IGL01977:Umodl1	APN	17	31,192,742 (GRCm39)	missense	probably damaging	0.99
IGL02063:Umodl1	APN	17	31,206,888 (GRCm39)	missense	probably benign	0.07
IGL02160:Umodl1	APN	17	31,205,091 (GRCm39)	missense	probably damaging	0.97
IGL02252:Umodl1	APN	17	31,213,789 (GRCm39)	critical splice donor site	probably null
IGL02427:Umodl1	APN	17	31,187,415 (GRCm39)	splice site	probably benign
IGL02496:Umodl1	APN	17	31,217,628 (GRCm39)	missense	probably damaging	0.99
IGL02633:Umodl1	APN	17	31,208,462 (GRCm39)	missense	probably damaging	1.00
IGL03271:Umodl1	APN	17	31,205,473 (GRCm39)	nonsense	probably null
IGL03392:Umodl1	APN	17	31,215,329 (GRCm39)	missense	probably damaging	0.98
Disquieting	UTSW	17	31,178,129 (GRCm39)	missense	probably damaging	1.00
floored	UTSW	17	31,207,031 (GRCm39)	nonsense	probably null
R7231_umodl1_507	UTSW	17	31,205,090 (GRCm39)	missense	probably damaging	1.00
surprising	UTSW	17	31,205,439 (GRCm39)	missense	possibly damaging	0.77
unsettling	UTSW	17	31,205,528 (GRCm39)	nonsense	probably null
G1citation:Umodl1	UTSW	17	31,205,528 (GRCm39)	nonsense	probably null
PIT4468001:Umodl1	UTSW	17	31,178,252 (GRCm39)	missense	probably damaging	1.00
R0048:Umodl1	UTSW	17	31,187,451 (GRCm39)	missense	probably damaging	1.00
R0048:Umodl1	UTSW	17	31,187,451 (GRCm39)	missense	probably damaging	1.00
R0653:Umodl1	UTSW	17	31,203,002 (GRCm39)	missense	probably benign	0.00
R0831:Umodl1	UTSW	17	31,215,325 (GRCm39)	missense	probably damaging	1.00
R1078:Umodl1	UTSW	17	31,178,347 (GRCm39)	missense	probably benign	0.00
R1166:Umodl1	UTSW	17	31,221,772 (GRCm39)	splice site	probably benign
R1231:Umodl1	UTSW	17	31,178,252 (GRCm39)	missense	probably damaging	1.00
R1459:Umodl1	UTSW	17	31,205,478 (GRCm39)	missense	probably benign	0.05
R1459:Umodl1	UTSW	17	31,201,232 (GRCm39)	splice site	probably benign
R1510:Umodl1	UTSW	17	31,178,203 (GRCm39)	missense	probably damaging	1.00
R1654:Umodl1	UTSW	17	31,206,942 (GRCm39)	missense	probably benign
R1757:Umodl1	UTSW	17	31,227,674 (GRCm39)	missense	probably damaging	0.99
R1781:Umodl1	UTSW	17	31,187,524 (GRCm39)	missense	probably damaging	1.00
R1873:Umodl1	UTSW	17	31,201,238 (GRCm39)	missense	probably damaging	0.99
R1911:Umodl1	UTSW	17	31,211,128 (GRCm39)	missense	possibly damaging	0.74
R1917:Umodl1	UTSW	17	31,203,017 (GRCm39)	missense	probably damaging	1.00
R1918:Umodl1	UTSW	17	31,203,017 (GRCm39)	missense	probably damaging	1.00
R2057:Umodl1	UTSW	17	31,227,740 (GRCm39)	critical splice donor site	probably null
R2058:Umodl1	UTSW	17	31,227,740 (GRCm39)	critical splice donor site	probably null
R2089:Umodl1	UTSW	17	31,190,893 (GRCm39)	missense	probably benign	0.00
R2091:Umodl1	UTSW	17	31,190,893 (GRCm39)	missense	probably benign	0.00
R2091:Umodl1	UTSW	17	31,190,893 (GRCm39)	missense	probably benign	0.00
R2431:Umodl1	UTSW	17	31,211,062 (GRCm39)	missense	possibly damaging	0.79
R2903:Umodl1	UTSW	17	31,211,147 (GRCm39)	missense	probably damaging	1.00
R3032:Umodl1	UTSW	17	31,208,502 (GRCm39)	missense	probably benign	0.01
R3956:Umodl1	UTSW	17	31,221,837 (GRCm39)	missense	probably benign	0.10
R3975:Umodl1	UTSW	17	31,203,763 (GRCm39)	nonsense	probably null
R4207:Umodl1	UTSW	17	31,178,341 (GRCm39)	missense	probably damaging	1.00
R4287:Umodl1	UTSW	17	31,207,039 (GRCm39)	missense	probably benign	0.11
R4452:Umodl1	UTSW	17	31,213,789 (GRCm39)	critical splice donor site	probably null
R4684:Umodl1	UTSW	17	31,217,088 (GRCm39)	missense	probably benign	0.00
R4769:Umodl1	UTSW	17	31,202,976 (GRCm39)	missense	possibly damaging	0.92
R4887:Umodl1	UTSW	17	31,227,639 (GRCm39)	missense	probably benign	0.06
R4888:Umodl1	UTSW	17	31,218,175 (GRCm39)	missense	probably damaging	1.00
R4993:Umodl1	UTSW	17	31,205,459 (GRCm39)	missense	probably benign	0.00
R5241:Umodl1	UTSW	17	31,203,066 (GRCm39)	missense	probably benign	0.18
R5254:Umodl1	UTSW	17	31,199,333 (GRCm39)	missense	possibly damaging	0.86
R5454:Umodl1	UTSW	17	31,205,439 (GRCm39)	missense	possibly damaging	0.77
R5456:Umodl1	UTSW	17	31,201,263 (GRCm39)	missense	probably benign	0.04
R5754:Umodl1	UTSW	17	31,213,761 (GRCm39)	missense	probably damaging	0.96
R6189:Umodl1	UTSW	17	31,215,256 (GRCm39)	missense	possibly damaging	0.75
R6222:Umodl1	UTSW	17	31,221,866 (GRCm39)	critical splice donor site	probably null
R6289:Umodl1	UTSW	17	31,201,325 (GRCm39)	missense	probably benign	0.16
R6432:Umodl1	UTSW	17	31,205,121 (GRCm39)	missense	probably benign	0.38
R6478:Umodl1	UTSW	17	31,178,129 (GRCm39)	missense	probably damaging	1.00
R6702:Umodl1	UTSW	17	31,205,273 (GRCm39)	splice site	probably null
R6822:Umodl1	UTSW	17	31,205,528 (GRCm39)	nonsense	probably null
R6999:Umodl1	UTSW	17	31,218,097 (GRCm39)	missense	probably damaging	1.00
R7067:Umodl1	UTSW	17	31,201,246 (GRCm39)	missense	probably damaging	1.00
R7123:Umodl1	UTSW	17	31,201,318 (GRCm39)	missense	possibly damaging	0.90
R7219:Umodl1	UTSW	17	31,201,236 (GRCm39)	critical splice acceptor site	probably null
R7231:Umodl1	UTSW	17	31,205,090 (GRCm39)	missense	probably damaging	1.00
R7234:Umodl1	UTSW	17	31,205,595 (GRCm39)	missense	possibly damaging	0.87
R7297:Umodl1	UTSW	17	31,227,639 (GRCm39)	missense	probably benign	0.06
R7392:Umodl1	UTSW	17	31,201,306 (GRCm39)	missense	probably damaging	0.99
R7401:Umodl1	UTSW	17	31,217,122 (GRCm39)	missense	probably damaging	1.00
R7461:Umodl1	UTSW	17	31,207,031 (GRCm39)	nonsense	probably null
R7594:Umodl1	UTSW	17	31,173,779 (GRCm39)	missense	probably benign	0.02
R7613:Umodl1	UTSW	17	31,207,031 (GRCm39)	nonsense	probably null
R7763:Umodl1	UTSW	17	31,205,430 (GRCm39)	missense	probably benign	0.24
R7797:Umodl1	UTSW	17	31,178,125 (GRCm39)	missense	probably benign	0.02
R7832:Umodl1	UTSW	17	31,192,666 (GRCm39)	critical splice acceptor site	probably null
R7954:Umodl1	UTSW	17	31,205,361 (GRCm39)	missense	probably benign	0.00
R8088:Umodl1	UTSW	17	31,192,770 (GRCm39)	missense	probably benign	0.29
R8111:Umodl1	UTSW	17	31,190,792 (GRCm39)	missense	probably damaging	0.99
R8314:Umodl1	UTSW	17	31,203,806 (GRCm39)	missense	probably damaging	0.99
R8826:Umodl1	UTSW	17	31,202,958 (GRCm39)	missense	possibly damaging	0.65
R9067:Umodl1	UTSW	17	31,192,677 (GRCm39)	missense	probably damaging	1.00
R9091:Umodl1	UTSW	17	31,185,678 (GRCm39)	missense	probably damaging	1.00
R9099:Umodl1	UTSW	17	31,178,147 (GRCm39)	missense	probably benign	0.01
R9270:Umodl1	UTSW	17	31,185,678 (GRCm39)	missense	probably damaging	1.00
R9341:Umodl1	UTSW	17	31,217,701 (GRCm39)	missense	possibly damaging	0.95
R9343:Umodl1	UTSW	17	31,217,701 (GRCm39)	missense	possibly damaging	0.95
R9400:Umodl1	UTSW	17	31,215,367 (GRCm39)	missense	probably damaging	0.99
R9569:Umodl1	UTSW	17	31,217,143 (GRCm39)	missense	probably damaging	1.00
R9615:Umodl1	UTSW	17	31,217,152 (GRCm39)	missense	possibly damaging	0.94
R9787:Umodl1	UTSW	17	31,178,324 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGTCACCCGGAAGAAGAG -3'
(R):5'- AGGGAACAGAGCTTGTCACC -3'

Sequencing Primer
(F):5'- AAGAAGAGCAAGTGTTCTTGGCTG -3'
(R):5'- AGAGCTTGTCACCCCACTG -3'

Posted On

2016-05-10