Incidental Mutation 'R7763:Umodl1'
ID 598088
Institutional Source Beutler Lab
Gene Symbol Umodl1
Ensembl Gene ENSMUSG00000054134
Gene Name uromodulin-like 1
Synonyms D17Ertd488e
MMRRC Submission 045819-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7763 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 30954679-31010708 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 30986456 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 675 (I675N)
Ref Sequence ENSEMBL: ENSMUSP00000067443 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066554] [ENSMUST00000066981] [ENSMUST00000114555]
AlphaFold Q5DID3
Predicted Effect probably benign
Transcript: ENSMUST00000066554
AA Change: I675N

PolyPhen 2 Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000067443
Gene: ENSMUSG00000054134
AA Change: I675N

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
AA Change: I646N

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000065470
Gene: ENSMUSG00000054134
AA Change: I646N

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
AA Change: I675N

PolyPhen 2 Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000110202
Gene: ENSMUSG00000054134
AA Change: I675N

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 111 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T A 7: 120,514,602 (GRCm38) W899R probably damaging Het
Abca5 A T 11: 110,272,497 (GRCm38) W1631R possibly damaging Het
Actg2 T A 6: 83,527,368 (GRCm38) D25V probably damaging Het
Akap10 G C 11: 61,915,505 (GRCm38) D132E probably damaging Het
Angptl2 G T 2: 33,242,382 (GRCm38) E334* probably null Het
Aprt T C 8: 122,574,935 (GRCm38) R165G probably benign Het
Bmp1 A G 14: 70,492,084 (GRCm38) F549S probably damaging Het
Capzb C T 4: 139,280,553 (GRCm38) T215I probably benign Het
Car14 C T 3: 95,904,372 (GRCm38) M1I probably null Het
Ccdc148 T A 2: 58,823,636 (GRCm38) Q501L probably benign Het
Ccdc32 G A 2: 119,027,347 (GRCm38) T12I probably damaging Het
Ccnf G A 17: 24,225,012 (GRCm38) S594L probably damaging Het
Cdadc1 C T 14: 59,573,834 (GRCm38) C409Y probably damaging Het
Cdh23 G T 10: 60,312,577 (GRCm38) S2670R probably damaging Het
Cdh8 T A 8: 99,279,674 (GRCm38) K94* probably null Het
Cdhr2 A T 13: 54,717,692 (GRCm38) Y193F probably damaging Het
Cdon T A 9: 35,454,415 (GRCm38) Y153* probably null Het
Chd1 G A 17: 15,733,041 (GRCm38) G413R probably damaging Het
Cit A T 5: 115,987,001 (GRCm38) T1582S probably benign Het
Clec4a3 T C 6: 122,964,340 (GRCm38) L98P probably benign Het
Cpa4 T A 6: 30,583,645 (GRCm38) D253E probably damaging Het
Cyp2c40 T A 19: 39,807,168 (GRCm38) N189I possibly damaging Het
Daam2 G T 17: 49,490,022 (GRCm38) A245E probably benign Het
Dennd5b A G 6: 149,068,658 (GRCm38) F121S probably damaging Het
Dgkd A G 1: 87,926,949 (GRCm38) T658A probably benign Het
Dmwd T A 7: 19,080,340 (GRCm38) L305Q probably damaging Het
Dnah5 A T 15: 28,313,855 (GRCm38) Y1939F probably damaging Het
Dock5 T C 14: 67,821,327 (GRCm38) T512A probably damaging Het
Dop1b T A 16: 93,755,514 (GRCm38) D398E probably benign Het
Eef1akmt4 A G 16: 20,618,529 (GRCm38) H207R probably damaging Het
Egfr T C 11: 16,891,266 (GRCm38) V719A probably damaging Het
Ep300 A T 15: 81,586,583 (GRCm38) probably benign Het
Epha4 A G 1: 77,390,031 (GRCm38) probably null Het
Erc2 T G 14: 27,876,204 (GRCm38) probably null Het
Ergic1 A T 17: 26,638,827 (GRCm38) Y209F possibly damaging Het
Fbxw28 A G 9: 109,326,633 (GRCm38) I357T probably damaging Het
Flnb A T 14: 7,926,478 (GRCm38) T1841S probably benign Het
Foxc1 G A 13: 31,808,028 (GRCm38) S274N probably benign Het
Fto C T 8: 91,409,443 (GRCm38) T115M probably damaging Het
Gm10228 C G 16: 89,041,299 (GRCm38) C39S unknown Het
Gm7334 T C 17: 50,698,715 (GRCm38) F10L possibly damaging Het
Hfm1 A G 5: 106,881,861 (GRCm38) Y785H probably damaging Het
Hivep1 T A 13: 42,159,461 (GRCm38) S1726T probably benign Het
Htt G T 5: 34,852,190 (GRCm38) C1505F probably damaging Het
Hydin T C 8: 110,505,843 (GRCm38) S1665P possibly damaging Het
Ifi209 T A 1: 173,642,879 (GRCm38) N344K probably damaging Het
Ifnar2 T C 16: 91,399,293 (GRCm38) M262T probably benign Het
Ighv7-3 T A 12: 114,153,207 (GRCm38) S112C probably damaging Het
Igkv4-86 A G 6: 68,910,579 (GRCm38) S59P probably benign Het
Iglv1 A G 16: 19,085,489 (GRCm38) probably benign Het
Ipo7 T A 7: 110,052,799 (GRCm38) D928E possibly damaging Het
Itgae G T 11: 73,123,269 (GRCm38) probably null Het
Kbtbd12 T A 6: 88,618,197 (GRCm38) Q217L probably benign Het
Kcnma1 T A 14: 23,300,006 (GRCm38) Y1155F possibly damaging Het
Kif14 A G 1: 136,516,383 (GRCm38) E1371G probably benign Het
Lilrb4a A T 10: 51,491,046 (GRCm38) Y10F probably benign Het
Lrp2 A T 2: 69,503,388 (GRCm38) V1503E probably damaging Het
Mfsd6 A T 1: 52,708,640 (GRCm38) D355E probably benign Het
Mri1 T C 8: 84,251,028 (GRCm38) H226R Het
Mroh4 C T 15: 74,624,705 (GRCm38) E278K probably damaging Het
Muc4 T A 16: 32,753,311 (GRCm38) L1063H probably benign Het
Mzf1 A T 7: 13,044,091 (GRCm38) I541N probably damaging Het
Nasp T A 4: 116,612,033 (GRCm38) E116D probably benign Het
Nlrp10 T A 7: 108,925,826 (GRCm38) E149V probably damaging Het
Notch4 G A 17: 34,582,418 (GRCm38) C1080Y probably damaging Het
Nova1 T G 12: 46,720,698 (GRCm38) I147L unknown Het
Ogdh A G 11: 6,338,558 (GRCm38) M223V probably benign Het
Or2a56 T C 6: 42,955,789 (GRCm38) I97T probably benign Het
Or2y1e G T 11: 49,327,671 (GRCm38) A87S probably benign Het
Or4n4 A T 14: 50,281,488 (GRCm38) I255N probably damaging Het
Or6c66b G T 10: 129,541,455 (GRCm38) R306L probably benign Het
P3h3 T C 6: 124,854,432 (GRCm38) Q330R probably benign Het
Pcdhb10 A G 18: 37,411,882 (GRCm38) T4A not run Het
Pkd2l2 A T 18: 34,433,287 (GRCm38) probably null Het
Plekhb1 C T 7: 100,645,663 (GRCm38) V168I probably benign Het
Plxna4 C T 6: 32,223,980 (GRCm38) R753H probably damaging Het
Pramel17 T C 4: 101,837,141 (GRCm38) I182V possibly damaging Het
Prex1 G C 2: 166,713,709 (GRCm38) P4A unknown Het
Ptgdr A G 14: 44,859,078 (GRCm38) V59A probably damaging Het
Ralgapa1 T A 12: 55,757,955 (GRCm38) I519F probably benign Het
Rbpms A G 8: 33,789,453 (GRCm38) I170T probably benign Het
Sec31b T A 19: 44,523,835 (GRCm38) probably null Het
Skint11 A T 4: 114,227,708 (GRCm38) Y138F probably benign Het
Slain2 A G 5: 72,948,610 (GRCm38) Y196C probably damaging Het
Slco1b2 T A 6: 141,676,224 (GRCm38) C503* probably null Het
Slfn3 A T 11: 83,214,788 (GRCm38) Y537F possibly damaging Het
Slu7 T C 11: 43,444,765 (GRCm38) Y443H probably damaging Het
Sorl1 T A 9: 42,043,909 (GRCm38) E683D probably damaging Het
Sos1 T A 17: 80,413,713 (GRCm38) I893L probably benign Het
St8sia2 T A 7: 73,943,321 (GRCm38) Y329F probably damaging Het
Stra6l C A 4: 45,869,570 (GRCm38) S212* probably null Het
Syne3 C T 12: 104,997,495 (GRCm38) probably benign Het
Tenm4 T A 7: 96,895,692 (GRCm38) I2342N probably benign Het
Tescl T A 7: 24,333,263 (GRCm38) E212D probably benign Het
Trip11 A G 12: 101,844,855 (GRCm38) S1879P probably benign Het
Ube2c A T 2: 164,771,291 (GRCm38) probably null Het
Vipr2 T C 12: 116,122,718 (GRCm38) F121S probably damaging Het
Vmn1r206 A T 13: 22,620,669 (GRCm38) S123T possibly damaging Het
Vmn1r58 A G 7: 5,410,913 (GRCm38) V106A probably damaging Het
Vmn2r112 A G 17: 22,603,118 (GRCm38) Y259C probably damaging Het
Vmn2r66 T C 7: 85,005,701 (GRCm38) K467E probably benign Het
Vmn2r98 T C 17: 19,080,535 (GRCm38) F600L probably benign Het
Vps13a T A 19: 16,746,000 (GRCm38) N278I possibly damaging Het
Vwa5a A C 9: 38,741,162 (GRCm38) D747A possibly damaging Het
Xdh G A 17: 73,934,834 (GRCm38) P157S possibly damaging Het
Xrn1 G A 9: 95,998,348 (GRCm38) probably null Het
Zfp362 T A 4: 128,787,031 (GRCm38) H180L probably benign Het
Zfp560 A T 9: 20,347,323 (GRCm38) W748R possibly damaging Het
Zfp808 A T 13: 62,172,664 (GRCm38) Q569L probably benign Het
Zfp93 T A 7: 24,275,218 (GRCm38) D209E possibly damaging Het
Zftraf1 A T 15: 76,658,547 (GRCm38) Y138N probably damaging 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
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
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'- AGTTCCAAGCACCCAAGGAG -3'
(R):5'- CTCTGGAGTCACATCGGTTG -3'

Sequencing Primer
(F):5'- TGCCCCCATCAGTGAGAGATG -3'
(R):5'- AGTCACATCGGTTGGGGCC -3'
Posted On 2019-11-26