Incidental Mutation 'R4684:Umodl1'
ID 353564
Institutional Source Beutler Lab
Gene Symbol Umodl1
Ensembl Gene ENSMUSG00000054134
Gene Name uromodulin-like 1
Synonyms D17Ertd488e
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4684 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 30954679-31010708 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 30998114 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 1107 (F1107L)
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: F1107L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000067443
Gene: ENSMUSG00000054134
AA Change: F1107L

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: F992L
SMART Domains Protein: ENSMUSP00000065470
Gene: ENSMUSG00000054134
AA Change: F992L

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: F1107L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000110202
Gene: ENSMUSG00000054134
AA Change: F1107L

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310039H08Rik T C 17: 46,772,946 (GRCm38) V45A probably benign Het
4921509C19Rik A G 2: 151,471,871 (GRCm38) I629T unknown Het
4933402N03Rik T C 7: 131,138,684 (GRCm38) R268G probably damaging Het
Abca13 A T 11: 9,434,193 (GRCm38) R3882* probably null Het
Adamts3 T G 5: 89,703,007 (GRCm38) T558P probably damaging Het
Ano2 A G 6: 125,790,341 (GRCm38) N214S probably benign Het
Arhgef4 A T 1: 34,811,785 (GRCm38) probably null Het
Boc C T 16: 44,500,380 (GRCm38) A306T probably benign Het
Capn10 T C 1: 92,943,781 (GRCm38) F367S probably damaging Het
Ccdc6 T C 10: 70,189,256 (GRCm38) probably benign Het
Cobll1 G T 2: 65,099,028 (GRCm38) S688R possibly damaging Het
Cpxm2 G T 7: 132,049,038 (GRCm38) P631Q possibly damaging Het
Cyp2c68 A G 19: 39,699,335 (GRCm38) V406A possibly damaging Het
Cyp4a30b T A 4: 115,455,003 (GRCm38) Y118N probably damaging Het
Dgki A T 6: 37,299,846 (GRCm38) probably benign Het
Disp2 A G 2: 118,792,756 (GRCm38) N1323S probably damaging Het
Dock1 T A 7: 134,724,409 (GRCm38) Y42* probably null Het
Eps8l1 C A 7: 4,473,945 (GRCm38) P471Q probably damaging Het
Fam20a A C 11: 109,721,687 (GRCm38) L10R unknown Het
Fpr-rs4 T A 17: 18,022,184 (GRCm38) I151K probably damaging Het
Gga1 C A 15: 78,885,309 (GRCm38) P161T probably damaging Het
Gm8909 A T 17: 36,165,858 (GRCm38) H241Q possibly damaging Het
Gm9923 T A 10: 72,309,476 (GRCm38) Y52* probably null Het
Gucy2g A G 19: 55,206,256 (GRCm38) F910L probably damaging Het
Helz T C 11: 107,649,145 (GRCm38) V315A probably damaging Het
Hk2 T C 6: 82,739,648 (GRCm38) Y301C probably damaging Het
Htt C T 5: 34,852,765 (GRCm38) P1521S probably damaging Het
Iah1 T C 12: 21,316,433 (GRCm38) M1T probably null Het
Ik T C 18: 36,752,414 (GRCm38) S287P probably damaging Het
Itga1 T A 13: 115,049,370 (GRCm38) D32V probably damaging Het
Itpr2 A G 6: 146,373,173 (GRCm38) F837S probably damaging Het
Klk14 A G 7: 43,691,968 (GRCm38) I15V probably benign Het
Kng2 T C 16: 22,987,641 (GRCm38) I603V possibly damaging Het
Lama1 T C 17: 67,773,778 (GRCm38) I1267T possibly damaging Het
Lrp1b A C 2: 40,922,304 (GRCm38) L2430V probably benign Het
Lrrn3 T G 12: 41,454,244 (GRCm38) K25Q possibly damaging Het
Lta4h T A 10: 93,468,816 (GRCm38) N233K probably benign Het
Mapk13 T C 17: 28,770,049 (GRCm38) I53T probably damaging Het
Mdn1 T C 4: 32,666,430 (GRCm38) F123L probably damaging Het
Mettl7b G T 10: 128,960,702 (GRCm38) C79* probably null Het
Myh4 G C 11: 67,245,811 (GRCm38) D472H probably damaging Het
Nipa2 A T 7: 55,935,826 (GRCm38) N121K probably benign Het
Nostrin C T 2: 69,183,924 (GRCm38) T408M probably benign Het
Olfr347 A G 2: 36,734,674 (GRCm38) M118V probably damaging Het
Olfr725 T C 14: 50,034,830 (GRCm38) D191G probably damaging Het
Oosp2 C T 19: 11,649,653 (GRCm38) R102H probably damaging Het
Osgin2 T A 4: 16,001,946 (GRCm38) I202L probably benign Het
Pbld2 C A 10: 63,057,697 (GRCm38) R271S probably damaging Het
Pex6 C T 17: 46,712,101 (GRCm38) T201I probably benign Het
Pilra T C 5: 137,835,515 (GRCm38) I96M probably damaging Het
Pllp T A 8: 94,677,278 (GRCm38) D47V possibly damaging Het
Plxna2 A G 1: 194,762,594 (GRCm38) S765G probably benign Het
Prkca A T 11: 107,961,608 (GRCm38) Y100N probably damaging Het
Prkg1 T A 19: 31,664,179 (GRCm38) K35* probably null Het
Psmc2 A G 5: 21,803,265 (GRCm38) D389G possibly damaging Het
Rnf213 A G 11: 119,441,125 (GRCm38) T2387A probably damaging Het
Ros1 T C 10: 52,129,096 (GRCm38) N914S probably damaging Het
Ruvbl1 C A 6: 88,491,599 (GRCm38) T367K probably benign Het
Scube2 C T 7: 109,810,713 (GRCm38) R525H probably damaging Het
Sec14l4 T C 11: 4,035,200 (GRCm38) probably null Het
Secisbp2l T C 2: 125,745,942 (GRCm38) D751G probably damaging Het
Setd3 T C 12: 108,108,690 (GRCm38) D402G probably benign Het
Slc15a2 T A 16: 36,757,849 (GRCm38) K359N probably damaging Het
Slc25a21 A G 12: 57,196,936 (GRCm38) S2P probably benign Het
Slfn8 A T 11: 83,017,506 (GRCm38) H70Q probably benign Het
Spef2 T C 15: 9,647,490 (GRCm38) I944V probably benign Het
Spg11 A G 2: 122,065,076 (GRCm38) F1887S probably damaging Het
Sptbn4 A T 7: 27,366,735 (GRCm38) D649E possibly damaging Het
Sptbn4 T C 7: 27,364,419 (GRCm38) E879G probably damaging Het
Stx5a C A 19: 8,743,361 (GRCm38) R121S probably damaging Het
Tbcd T C 11: 121,493,771 (GRCm38) L26P probably damaging Het
Tecpr1 T C 5: 144,207,437 (GRCm38) D649G probably benign Het
Tfam A G 10: 71,237,847 (GRCm38) S32P probably benign Het
Trmt44 C T 5: 35,558,043 (GRCm38) R642H probably benign Het
Trpm3 G A 19: 22,987,781 (GRCm38) A1547T probably benign Het
Ttll6 T C 11: 96,153,177 (GRCm38) V519A probably benign Het
Usp5 A T 6: 124,817,956 (GRCm38) V677E probably damaging Het
Utp20 A T 10: 88,807,445 (GRCm38) L605* probably null Het
Utrn T C 10: 12,745,240 (GRCm38) D229G probably damaging Het
Uty A T Y: 1,176,502 (GRCm38) L178* probably null Het
Vmn2r88 A T 14: 51,413,334 (GRCm38) D168V possibly damaging Het
Vps13b T C 15: 35,646,178 (GRCm38) V1476A probably damaging Het
Vps13b C T 15: 35,841,341 (GRCm38) H2506Y probably benign Het
Vps13b C A 15: 35,879,821 (GRCm38) T3014K probably benign Het
Vps37c T C 19: 10,712,768 (GRCm38) V198A probably benign Het
Zfc3h1 T C 10: 115,423,385 (GRCm38) Y1621H probably benign Het
Zfp251 T C 15: 76,854,407 (GRCm38) D162G possibly damaging Het
Zfp292 T C 4: 34,807,078 (GRCm38) T1994A probably benign Het
Zfp791 A G 8: 85,110,930 (GRCm38) Y102H 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
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
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'- TCCGGAGTTTTACACTTCTGG -3'
(R):5'- CTAACTCCTCTCTGTGTGGGAG -3'

Sequencing Primer
(F):5'- GAGTTTTACACTTCTGGGGATAACC -3'
(R):5'- AGAAGCTGTTCCTCCTAGCTGATTG -3'
Posted On 2015-10-21