Incidental Mutation 'R7392:Umodl1'
ID 573553
Institutional Source Beutler Lab
Gene Symbol Umodl1
Ensembl Gene ENSMUSG00000054134
Gene Name uromodulin-like 1
Synonyms D17Ertd488e
MMRRC Submission 045474-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7392 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 30954679-31010708 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 30982332 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 412 (S412R)
Ref Sequence ENSEMBL: ENSMUSP00000067443 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066554] [ENSMUST00000066981] [ENSMUST00000114555]
AlphaFold Q5DID3
Predicted Effect probably damaging
Transcript: ENSMUST00000066554
AA Change: S412R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000067443
Gene: ENSMUSG00000054134
AA Change: S412R

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 damaging
Transcript: ENSMUST00000066981
AA Change: S412R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000065470
Gene: ENSMUSG00000054134
AA Change: S412R

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: S412R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000110202
Gene: ENSMUSG00000054134
AA Change: S412R

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: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik T A 7: 41,626,566 (GRCm38) F564L probably damaging Het
Abcc2 T C 19: 43,808,687 (GRCm38) I499T probably damaging Het
Adamts13 C T 2: 26,989,324 (GRCm38) R630C probably damaging Het
Adgrv1 A T 13: 81,560,689 (GRCm38) F1199I probably damaging Het
Agbl5 G A 5: 30,890,771 (GRCm38) probably null Het
Anks1b A G 10: 90,680,786 (GRCm38) D881G possibly damaging Het
Arap2 A T 5: 62,698,385 (GRCm38) S569R possibly damaging Het
Arhgap15 T C 2: 44,063,774 (GRCm38) S171P possibly damaging Het
Arhgef11 G A 3: 87,717,175 (GRCm38) probably null Het
Baz1a C A 12: 54,898,765 (GRCm38) L1271F probably damaging Het
Bdnf A C 2: 109,723,930 (GRCm38) K216N probably benign Het
Bmp7 C T 2: 172,870,205 (GRCm38) D409N probably damaging Het
Bnip5 A T 17: 28,908,377 (GRCm38) D219E probably benign Het
Cacna1c T A 6: 118,741,920 (GRCm38) I390F Het
Chd8 A G 14: 52,232,855 (GRCm38) S433P probably benign Het
Clrn2 A G 5: 45,463,909 (GRCm38) E215G possibly damaging Het
Col19a1 T G 1: 24,534,034 (GRCm38) D219A unknown Het
Col2a1 G A 15: 97,980,151 (GRCm38) R1036* probably null Het
Copg1 T A 6: 87,890,275 (GRCm38) V110D probably benign Het
Cpd C T 11: 76,801,779 (GRCm38) G744D probably damaging Het
Crygs G A 16: 22,806,502 (GRCm38) P63L probably benign Het
Dcn A G 10: 97,509,998 (GRCm38) D224G probably damaging Het
Dnah7a T C 1: 53,501,661 (GRCm38) E2518G probably benign Het
Efcab6 C A 15: 83,988,951 (GRCm38) R197L probably benign Het
Efr3b T A 12: 3,969,588 (GRCm38) Y723F probably benign Het
Enam A G 5: 88,501,664 (GRCm38) N344S probably damaging Het
Erich4 A G 7: 25,615,676 (GRCm38) I58T possibly damaging Het
Esrp1 A G 4: 11,338,809 (GRCm38) V665A probably benign Het
Etf1 G A 18: 34,906,050 (GRCm38) T388I probably benign Het
Faf1 A G 4: 109,794,843 (GRCm38) T244A probably benign Het
Fbn1 T C 2: 125,343,924 (GRCm38) D1610G probably damaging Het
Fcgbpl1 C T 7: 28,164,372 (GRCm38) T2523M possibly damaging Het
Frem1 G T 4: 83,013,827 (GRCm38) F212L probably benign Het
Fuom T A 7: 140,101,160 (GRCm38) D85V probably damaging Het
Gcfc2 T C 6: 81,943,012 (GRCm38) probably null Het
Gpr37 C T 6: 25,688,787 (GRCm38) A104T probably benign Het
Hsp90ab1 G C 17: 45,569,048 (GRCm38) T514S probably benign Het
Ifnl2 A G 7: 28,509,669 (GRCm38) F74L probably benign Het
Ipo11 G A 13: 106,891,691 (GRCm38) R367* probably null Het
Itpr2 T C 6: 146,359,340 (GRCm38) D963G possibly damaging Het
Krt15 A T 11: 100,135,560 (GRCm38) V100E possibly damaging Het
Lrch3 T A 16: 32,986,755 (GRCm38) L466* probably null Het
Lrfn5 A T 12: 61,840,304 (GRCm38) T293S probably benign Het
Lrp5 A G 19: 3,610,199 (GRCm38) I955T probably damaging Het
Lrrc4b C T 7: 44,462,015 (GRCm38) T437M probably damaging Het
Man1a A G 10: 53,919,187 (GRCm38) Y657H probably damaging Het
Mapkap1 G T 2: 34,435,154 (GRCm38) R94L probably damaging Het
Mtmr4 T A 11: 87,604,557 (GRCm38) L480Q probably damaging Het
Mycbp2 A T 14: 103,243,128 (GRCm38) C1169S probably damaging Het
Mycbp2 T C 14: 103,152,191 (GRCm38) I3504M probably damaging Het
Myo15a T C 11: 60,505,976 (GRCm38) S1455P Het
Niban1 A G 1: 151,696,224 (GRCm38) T307A probably damaging Het
Nid2 A G 14: 19,768,656 (GRCm38) D406G probably benign Het
Nrip2 A G 6: 128,404,950 (GRCm38) I69V probably benign Het
Nthl1 G A 17: 24,638,624 (GRCm38) V266I probably benign Het
Or2ag16 T C 7: 106,753,382 (GRCm38) E2G possibly damaging Het
Or5an6 G T 19: 12,394,465 (GRCm38) L67F probably damaging Het
Or5b21 A G 19: 12,862,587 (GRCm38) T271A probably benign Het
Or5g23 A C 2: 85,608,488 (GRCm38) C141G possibly damaging Het
Or5p75-ps1 C A 7: 108,508,084 (GRCm38) H9Q possibly damaging Het
Or8k25 A G 2: 86,413,152 (GRCm38) V300A probably benign Het
Or8s5 A G 15: 98,340,311 (GRCm38) V226A probably benign Het
Pcdhb1 A C 18: 37,265,118 (GRCm38) S41R possibly damaging Het
Pdcd11 T A 19: 47,127,997 (GRCm38) F1529I probably damaging Het
Plcd3 C A 11: 103,101,557 (GRCm38) probably benign Het
Qdpr T C 5: 45,439,376 (GRCm38) M149V probably benign Het
R3hcc1 T A 14: 69,705,880 (GRCm38) probably null Het
Rasgrf2 T C 13: 91,893,737 (GRCm38) Y392C Het
Slc8a3 A C 12: 81,314,803 (GRCm38) V414G probably damaging Het
Slco1a6 A G 6: 142,157,277 (GRCm38) S54P probably benign Het
Sos1 C A 17: 80,424,200 (GRCm38) V624F probably damaging Het
Spdef T C 17: 27,717,288 (GRCm38) D227G probably benign Het
Sptb G T 12: 76,624,229 (GRCm38) Q447K probably damaging Het
Srsf12 A T 4: 33,209,265 (GRCm38) R62W unknown Het
Stag3 T C 5: 138,291,366 (GRCm38) L266P probably damaging Het
Sult2b1 T C 7: 45,742,438 (GRCm38) probably benign Het
Taf1a A G 1: 183,409,276 (GRCm38) T66A Het
Tfg A T 16: 56,712,609 (GRCm38) probably null Het
Trim34b A G 7: 104,336,397 (GRCm38) N413S probably benign Het
Txndc15 T A 13: 55,721,586 (GRCm38) M184K probably damaging Het
Zbtb8b T A 4: 129,432,890 (GRCm38) M161L probably benign Het
Zfp597 A T 16: 3,866,505 (GRCm38) V129E probably benign Het
Zfp790 T C 7: 29,828,625 (GRCm38) I245T possibly 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
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'- GGAGCAAGTGTCAGTGTTACC -3'
(R):5'- CTTTGCCCAACCACAAGGAG -3'

Sequencing Primer
(F):5'- GAGCAAGTGTCAGTGTTACCATTCC -3'
(R):5'- GGAGCCAGATTGATGATATACACTTG -3'
Posted On 2019-09-13