Incidental Mutation 'R1757:Umodl1'
ID 195022
Institutional Source Beutler Lab
Gene Symbol Umodl1
Ensembl Gene ENSMUSG00000054134
Gene Name uromodulin-like 1
Synonyms D17Ertd488e
MMRRC Submission 039789-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1757 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 31173614-31229684 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 31227674 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 1336 (I1336F)
Ref Sequence ENSEMBL: ENSMUSP00000110202 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066554] [ENSMUST00000066981] [ENSMUST00000114555]
AlphaFold Q5DID3
Predicted Effect probably damaging
Transcript: ENSMUST00000066554
AA Change: I1336F

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000067443
Gene: ENSMUSG00000054134
AA Change: I1336F

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 unknown
Transcript: ENSMUST00000066981
AA Change: I1221F
SMART Domains Protein: ENSMUSP00000065470
Gene: ENSMUSG00000054134
AA Change: I1221F

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 damaging
Transcript: ENSMUST00000114555
AA Change: I1336F

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000110202
Gene: ENSMUSG00000054134
AA Change: I1336F

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
Meta Mutation Damage Score 0.1113 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.4%
Validation Efficiency 100% (111/111)
Allele List at MGI
Other mutations in this stock
Total: 108 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd6 A T 14: 8,049,867 (GRCm38) I219F probably damaging Het
Acvr1b A G 15: 101,096,703 (GRCm39) I207V possibly damaging Het
Adamtsl4 T C 3: 95,585,252 (GRCm39) T839A probably benign Het
Akap1 C T 11: 88,736,578 (GRCm39) R61H probably damaging Het
Akap9 A G 5: 4,051,667 (GRCm39) D1478G probably benign Het
Aloxe3 T A 11: 69,026,775 (GRCm39) V547E possibly damaging Het
Ano6 G A 15: 95,860,148 (GRCm39) A757T probably damaging Het
Armc10 A G 5: 21,858,455 (GRCm39) T167A probably damaging Het
BB019430 A C 10: 58,539,869 (GRCm39) noncoding transcript Het
Brms1 C T 19: 5,096,435 (GRCm39) R82W probably damaging Het
Btnl6 G A 17: 34,733,062 (GRCm39) T267I probably benign Het
Catsper4 A T 4: 133,945,212 (GRCm39) F215L probably benign Het
Ccdc188 T C 16: 18,036,552 (GRCm39) F197S probably damaging Het
Cers5 A C 15: 99,634,212 (GRCm39) C379G probably benign Het
Chchd6 A G 6: 89,361,626 (GRCm39) L259P probably damaging Het
Cntnap2 T A 6: 46,736,763 (GRCm39) C730S probably damaging Het
Coch T G 12: 51,649,631 (GRCm39) V314G probably damaging Het
Cog1 T A 11: 113,543,130 (GRCm39) S213T possibly damaging Het
Crot A T 5: 9,037,828 (GRCm39) F163I probably damaging Het
Cyp4f13 A T 17: 33,148,932 (GRCm39) I162N probably damaging Het
Dab2 A T 15: 6,359,933 (GRCm39) probably benign Het
Depdc1b C T 13: 108,460,482 (GRCm39) R31W probably damaging Het
Dlk1 T C 12: 109,425,613 (GRCm39) F161S probably damaging Het
Dnah6 T C 6: 73,137,965 (GRCm39) E913G probably damaging Het
Dnajc6 A G 4: 101,455,028 (GRCm39) Y5C probably damaging Het
Dock10 T C 1: 80,511,586 (GRCm39) T1508A probably damaging Het
Dstyk A G 1: 132,361,832 (GRCm39) probably benign Het
Efcc1 T C 6: 87,726,265 (GRCm39) probably benign Het
Entpd1 T C 19: 40,727,450 (GRCm39) Y533H probably benign Het
Epha8 A T 4: 136,658,789 (GRCm39) probably null Het
Erich3 C T 3: 154,401,402 (GRCm39) T17M probably damaging Het
Ethe1 T C 7: 24,307,899 (GRCm39) probably benign Het
Fbxw15 A T 9: 109,386,347 (GRCm39) M211K probably damaging Het
Fhod3 G A 18: 25,199,335 (GRCm39) V669M possibly damaging Het
Fktn C T 4: 53,747,003 (GRCm39) probably benign Het
Foxred1 G A 9: 35,122,130 (GRCm39) R20C probably benign Het
Gbp9 A G 5: 105,242,319 (GRCm39) L140P probably damaging Het
Gga1 T C 15: 78,773,230 (GRCm39) L286P probably damaging Het
Gml T C 15: 74,685,462 (GRCm39) probably benign Het
Gsap A T 5: 21,486,035 (GRCm39) K628N probably damaging Het
Gtf3c4 G A 2: 28,720,648 (GRCm39) probably benign Het
H2-M10.6 A C 17: 37,124,043 (GRCm39) Y169S probably benign Het
Hal G A 10: 93,330,490 (GRCm39) V245I probably benign Het
Hebp2 T C 10: 18,420,849 (GRCm39) Y72C probably damaging Het
Helz2 T C 2: 180,878,056 (GRCm39) E914G probably damaging Het
Herc3 T C 6: 58,893,455 (GRCm39) Y906H probably damaging Het
Hfm1 A T 5: 107,028,226 (GRCm39) probably null Het
Hgs C T 11: 120,370,889 (GRCm39) P582S probably damaging Het
Hoxa10 G A 6: 52,211,469 (GRCm39) P149L probably damaging Het
Inpp5j T A 11: 3,454,738 (GRCm39) Q4L possibly damaging Het
Ints8 A C 4: 11,254,109 (GRCm39) M1R probably null Het
Isg15 T C 4: 156,284,447 (GRCm39) E27G possibly damaging Het
Klf13 A T 7: 63,541,513 (GRCm39) C205S probably damaging Het
Lama1 A T 17: 68,070,831 (GRCm39) Y830F probably benign Het
Lama1 G A 17: 68,004,378 (GRCm39) V17M unknown Het
Lama3 A G 18: 12,598,556 (GRCm39) N988D probably benign Het
Lcat CAT C 8: 106,668,446 (GRCm39) probably null Het
Lct G T 1: 128,228,994 (GRCm39) P833H probably damaging Het
Lmf1 A T 17: 25,874,184 (GRCm39) R403W probably damaging Het
Me3 T G 7: 89,282,230 (GRCm39) S38A probably benign Het
Myg1 A T 15: 102,240,264 (GRCm39) D30V probably benign Het
Nbea A G 3: 55,537,610 (GRCm39) I2841T possibly damaging Het
Nek1 T A 8: 61,542,847 (GRCm39) probably null Het
Obsl1 C T 1: 75,470,527 (GRCm39) R1043H probably benign Het
Or4p23 G T 2: 88,576,361 (GRCm39) D290E probably benign Het
Or5b119 A C 19: 13,456,971 (GRCm39) V197G possibly damaging Het
Or6n2 A T 1: 173,897,224 (GRCm39) Y120F probably damaging Het
Or9m2 T G 2: 87,820,926 (GRCm39) I157R probably damaging Het
Osbpl9 A G 4: 108,921,780 (GRCm39) Y613H probably damaging Het
Per3 C T 4: 151,127,249 (GRCm39) probably null Het
Pex6 G T 17: 47,034,424 (GRCm39) V758L probably damaging Het
Pikfyve A G 1: 65,291,707 (GRCm39) I1309V probably damaging Het
Pimreg A G 11: 71,933,985 (GRCm39) E37G possibly damaging Het
Pjvk G A 2: 76,486,232 (GRCm39) V211I probably benign Het
Plekhg4 T A 8: 106,108,293 (GRCm39) V1112E probably damaging Het
Ptprz1 T A 6: 23,044,319 (GRCm39) M2106K probably damaging Het
Rdh16f2 G T 10: 127,712,765 (GRCm39) L254F probably benign Het
Rictor G A 15: 6,803,343 (GRCm39) R485Q possibly damaging Het
Rnf146 G A 10: 29,223,475 (GRCm39) T137M probably damaging Het
Rrp9 T A 9: 106,360,203 (GRCm39) C204S probably damaging Het
Rxylt1 T C 10: 121,924,920 (GRCm39) T261A probably benign Het
Serpinb9h T C 13: 33,583,336 (GRCm39) S150P probably benign Het
Shkbp1 T C 7: 27,041,776 (GRCm39) T693A probably benign Het
Skint9 A G 4: 112,271,159 (GRCm39) Y84H probably benign Het
Slc22a12 A T 19: 6,586,761 (GRCm39) probably null Het
Slfn4 T C 11: 83,076,211 (GRCm39) C26R possibly damaging Het
Snrnp200 T C 2: 127,074,363 (GRCm39) L1401P probably damaging Het
Specc1 T A 11: 62,010,110 (GRCm39) probably null Het
Spef2 A T 15: 9,717,568 (GRCm39) M316K probably damaging Het
Tbc1d22b A G 17: 29,790,647 (GRCm39) R204G probably damaging Het
Tektl1 T C 10: 78,583,058 (GRCm39) N442S probably benign Het
Tgfbr3l C A 8: 4,299,548 (GRCm39) D110E probably benign Het
Ticrr T G 7: 79,325,071 (GRCm39) S532R probably damaging Het
Ticrr C A 7: 79,328,794 (GRCm39) Y644* probably null Het
Traf3ip1 A T 1: 91,450,579 (GRCm39) T509S probably damaging Het
Trmt10b T C 4: 45,307,946 (GRCm39) Y209H probably damaging Het
Trmt6 T C 2: 132,652,157 (GRCm39) M172V probably damaging Het
Tsc1 A G 2: 28,576,125 (GRCm39) D978G probably benign Het
Tshz2 C A 2: 169,725,843 (GRCm39) F146L probably benign Het
Tspyl4 G T 10: 34,173,576 (GRCm39) E23* probably null Het
Ulk2 A T 11: 61,732,165 (GRCm39) probably benign Het
Vezt T C 10: 93,806,425 (GRCm39) D662G probably benign Het
Vnn1 G T 10: 23,776,727 (GRCm39) Q359H probably benign Het
Vnn1 A T 10: 23,776,726 (GRCm39) Q359L possibly damaging Het
Zdhhc16 A G 19: 41,930,394 (GRCm39) N14S probably damaging Het
Zfp455 T C 13: 67,355,601 (GRCm39) S225P probably damaging Het
Zfp74 T A 7: 29,634,486 (GRCm39) E407D probably benign Het
Zic2 T A 14: 122,716,031 (GRCm39) H384Q possibly damaging Het
Other mutations in Umodl1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R4978:Umodl1 UTSW 17 31,205,055 (GRCm39) missense probably benign
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'- GATGCATAATTCCCCTGACCCTGAC -3'
(R):5'- ATGGCAGAACTCTTTGCTGACCTAC -3'

Sequencing Primer
(F):5'- TGACACCTCTCTTACCCTGAAAC -3'
(R):5'- TGCTGACCTACAAATGGTCC -3'
Posted On 2014-05-23