Incidental Mutation 'R1459:Umodl1'
ID 162006
Institutional Source Beutler Lab
Gene Symbol Umodl1
Ensembl Gene ENSMUSG00000054134
Gene Name uromodulin-like 1
Synonyms D17Ertd488e
MMRRC Submission 039514-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1459 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 30954679-31010708 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 30982258 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000110202 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066554] [ENSMUST00000066981] [ENSMUST00000114555]
AlphaFold Q5DID3
Predicted Effect probably benign
Transcript: ENSMUST00000066554
SMART Domains Protein: ENSMUSP00000067443
Gene: ENSMUSG00000054134

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000065470
Gene: ENSMUSG00000054134

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000110202
Gene: ENSMUSG00000054134

DomainStartEndE-ValueType
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: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.5%
Validation Efficiency 96% (87/91)
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik C T 4: 62,532,341 (GRCm38) R51W probably damaging Het
Abcb1a T A 5: 8,702,920 (GRCm38) L557Q probably damaging Het
Abcb4 T C 5: 8,918,662 (GRCm38) F334L possibly damaging Het
Adamts14 T A 10: 61,198,804 (GRCm38) T1102S probably benign Het
Adamtsl1 T C 4: 86,425,865 (GRCm38) Y1719H probably damaging Het
Adcyap1 T C 17: 93,200,122 (GRCm38) probably null Het
Ankrd13c T A 3: 157,972,310 (GRCm38) L219Q probably damaging Het
Ano3 C A 2: 110,880,829 (GRCm38) A97S probably benign Het
Apaf1 T C 10: 91,062,160 (GRCm38) N245S probably benign Het
Apob A G 12: 8,011,937 (GRCm38) D3473G possibly damaging Het
Apob A G 12: 8,006,047 (GRCm38) T1510A probably benign Het
Arfgap3 G A 15: 83,306,937 (GRCm38) T12I probably benign Het
Bend4 A G 5: 67,400,075 (GRCm38) V466A probably damaging Het
Bend7 G A 2: 4,744,428 (GRCm38) E119K probably damaging Het
Capn5 G T 7: 98,131,842 (GRCm38) R243S possibly damaging Het
Cd84 A G 1: 171,851,943 (GRCm38) I63V probably benign Het
Cd86 T A 16: 36,628,988 (GRCm38) T16S probably benign Het
Cdc42bpb A G 12: 111,296,300 (GRCm38) probably benign Het
Cep95 C T 11: 106,817,955 (GRCm38) S26L probably damaging Het
Cldn19 C T 4: 119,255,613 (GRCm38) A14V probably damaging Het
Cluap1 T A 16: 3,937,589 (GRCm38) M356K probably damaging Het
Coq7 C T 7: 118,510,037 (GRCm38) G263S unknown Het
Ctnnd2 A C 15: 30,847,299 (GRCm38) T679P probably damaging Het
Dnah10 A G 5: 124,743,686 (GRCm38) D528G possibly damaging Het
Dvl1 T A 4: 155,854,019 (GRCm38) N133K probably damaging Het
Efcab7 T G 4: 99,912,547 (GRCm38) H550Q probably null Het
Fastkd5 C T 2: 130,614,797 (GRCm38) M624I probably damaging Het
Fbxo42 T C 4: 141,167,762 (GRCm38) V12A probably benign Het
Fopnl G A 16: 14,304,516 (GRCm38) T128I possibly damaging Het
Gabarapl1 T A 6: 129,538,672 (GRCm38) M91K possibly damaging Het
Gas7 A G 11: 67,662,076 (GRCm38) N154S probably damaging Het
Gm21814 T A 6: 149,582,152 (GRCm38) noncoding transcript Het
Gm6904 T A 14: 59,244,778 (GRCm38) E175D probably damaging Het
Gnl3 G A 14: 31,017,846 (GRCm38) R12C probably damaging Het
Golga2 T G 2: 32,297,795 (GRCm38) probably null Het
Grk3 T A 5: 112,915,012 (GRCm38) R656S probably benign Het
Gsap T A 5: 21,207,238 (GRCm38) probably benign Het
H60c T C 10: 3,260,240 (GRCm38) Q103R probably benign Het
Hnrnpr T A 4: 136,329,444 (GRCm38) S252T probably damaging Het
Itgb4 A T 11: 115,979,111 (GRCm38) T40S probably benign Het
Krtap27-1 T C 16: 88,671,414 (GRCm38) N81D probably benign Het
Lilrb4a T A 10: 51,491,587 (GRCm38) L75Q probably benign Het
Lrp2 T A 2: 69,483,394 (GRCm38) D2331V probably damaging Het
Lrp2 T A 2: 69,460,477 (GRCm38) E3546D probably damaging Het
Lzts2 T A 19: 45,021,454 (GRCm38) V9E probably damaging Het
Matr3 T A 18: 35,584,656 (GRCm38) D302E probably benign Het
Mcoln2 A G 3: 146,192,224 (GRCm38) probably null Het
Metap2 T C 10: 93,868,949 (GRCm38) D272G probably damaging Het
Mitf A G 6: 98,010,467 (GRCm38) D337G probably damaging Het
Mkl2 T C 16: 13,401,569 (GRCm38) V693A possibly damaging Het
Msh2 A G 17: 87,678,343 (GRCm38) E116G probably benign Het
Nlrp10 T A 7: 108,924,348 (GRCm38) M642L probably benign Het
Noxa1 G T 2: 25,092,546 (GRCm38) Q86K probably benign Het
Nrap T C 19: 56,384,130 (GRCm38) T48A probably benign Het
Nup160 T A 2: 90,690,150 (GRCm38) H308Q probably damaging Het
Osbpl11 T C 16: 33,236,329 (GRCm38) L711P probably damaging Het
Osbpl6 A G 2: 76,555,065 (GRCm38) N281S probably benign Het
Pcnp C T 16: 56,024,340 (GRCm38) E66K possibly damaging Het
Pik3cg A G 12: 32,204,984 (GRCm38) Y335H probably damaging Het
Plekhg4 T C 8: 105,381,799 (GRCm38) L1053S probably damaging Het
Plekhh2 G T 17: 84,610,775 (GRCm38) E1271* probably null Het
Ppp2r2b T A 18: 42,737,990 (GRCm38) Y82F probably damaging Het
Prkd3 T C 17: 78,971,367 (GRCm38) D430G probably damaging Het
Prl7d1 C T 13: 27,709,257 (GRCm38) D224N possibly damaging Het
Ptpdc1 A T 13: 48,586,697 (GRCm38) N419K possibly damaging Het
Serinc5 T A 13: 92,661,187 (GRCm38) probably null Het
Sipa1 A G 19: 5,651,664 (GRCm38) L981P probably damaging Het
Slc16a7 A T 10: 125,230,620 (GRCm38) C383* probably null Het
Slc19a1 C G 10: 77,042,535 (GRCm38) Y301* probably null Het
Slc22a14 A T 9: 119,223,761 (GRCm38) V14E possibly damaging Het
Slpi C A 2: 164,354,917 (GRCm38) C95F probably damaging Het
Smurf2 G A 11: 106,852,507 (GRCm38) H225Y possibly damaging Het
Son T C 16: 91,655,342 (GRCm38) S326P possibly damaging Het
Sptb T A 12: 76,611,883 (GRCm38) K1262M probably benign Het
Sugp2 T A 8: 70,244,064 (GRCm38) probably benign Het
Tatdn2 T A 6: 113,710,070 (GRCm38) H747Q probably damaging Het
Tcn2 C A 11: 3,927,516 (GRCm38) R44L probably benign Het
Tenm3 G A 8: 48,235,971 (GRCm38) R2194C probably damaging Het
Tnks2 T A 19: 36,845,531 (GRCm38) probably benign Het
Top3a A T 11: 60,759,362 (GRCm38) I120N probably damaging Het
Ush2a T C 1: 188,862,851 (GRCm38) S3827P probably benign Het
Vasn T A 16: 4,648,609 (GRCm38) probably null Het
Vmn2r69 A T 7: 85,406,700 (GRCm38) C743* probably null Het
Vmn2r79 C A 7: 87,037,794 (GRCm38) H794Q probably benign Het
Other mutations in Umodl1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- AAGTCTGGTGACTCAGTGTCCCTG -3'
(R):5'- ACTTTGCCCAACCACAAGGAGG -3'

Sequencing Primer
(F):5'- GAGCAAGTGTCAGTGTTACCATTC -3'
(R):5'- tgtatgtgtgtgtttgtccttc -3'
Posted On 2014-03-14