Incidental Mutation 'R1459:Umodl1'
ID 162007
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 31173614-31229684 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31205478 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 662 (V662A)
Ref Sequence ENSEMBL: ENSMUSP00000065470 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066554] [ENSMUST00000066981] [ENSMUST00000114555]
AlphaFold Q5DID3
Predicted Effect probably benign
Transcript: ENSMUST00000066554
AA Change: V691A

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000067443
Gene: ENSMUSG00000054134
AA Change: V691A

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: V662A

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000065470
Gene: ENSMUSG00000054134
AA Change: V662A

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: V691A

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000110202
Gene: ENSMUSG00000054134
AA Change: V691A

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 0.0898 question?
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: 62,450,578 (GRCm39) R51W probably damaging Het
Abcb1a T A 5: 8,752,920 (GRCm39) L557Q probably damaging Het
Abcb4 T C 5: 8,968,662 (GRCm39) F334L possibly damaging Het
Adamts14 T A 10: 61,034,583 (GRCm39) T1102S probably benign Het
Adamtsl1 T C 4: 86,344,102 (GRCm39) Y1719H probably damaging Het
Adcyap1 T C 17: 93,507,550 (GRCm39) probably null Het
Ankrd13c T A 3: 157,677,947 (GRCm39) L219Q probably damaging Het
Ano3 C A 2: 110,711,174 (GRCm39) A97S probably benign Het
Apaf1 T C 10: 90,898,022 (GRCm39) N245S probably benign Het
Apob A G 12: 8,056,047 (GRCm39) T1510A probably benign Het
Apob A G 12: 8,061,937 (GRCm39) D3473G possibly damaging Het
Arfgap3 G A 15: 83,191,138 (GRCm39) T12I probably benign Het
Bend4 A G 5: 67,557,418 (GRCm39) V466A probably damaging Het
Bend7 G A 2: 4,749,239 (GRCm39) E119K probably damaging Het
Capn5 G T 7: 97,781,049 (GRCm39) R243S possibly damaging Het
Cd84 A G 1: 171,679,510 (GRCm39) I63V probably benign Het
Cd86 T A 16: 36,449,350 (GRCm39) T16S probably benign Het
Cdc42bpb A G 12: 111,262,734 (GRCm39) probably benign Het
Cep20 G A 16: 14,122,380 (GRCm39) T128I possibly damaging Het
Cep95 C T 11: 106,708,781 (GRCm39) S26L probably damaging Het
Cldn19 C T 4: 119,112,810 (GRCm39) A14V probably damaging Het
Cluap1 T A 16: 3,755,453 (GRCm39) M356K probably damaging Het
Coq7 C T 7: 118,109,260 (GRCm39) G263S unknown Het
Ctnnd2 A C 15: 30,847,445 (GRCm39) T679P probably damaging Het
Dnah10 A G 5: 124,820,750 (GRCm39) D528G possibly damaging Het
Dvl1 T A 4: 155,938,476 (GRCm39) N133K probably damaging Het
Efcab7 T G 4: 99,769,744 (GRCm39) H550Q probably null Het
Fastkd5 C T 2: 130,456,717 (GRCm39) M624I probably damaging Het
Fbxo42 T C 4: 140,895,073 (GRCm39) V12A probably benign Het
Gabarapl1 T A 6: 129,515,635 (GRCm39) M91K possibly damaging Het
Gas7 A G 11: 67,552,902 (GRCm39) N154S probably damaging Het
Gm21814 T A 6: 149,483,650 (GRCm39) noncoding transcript Het
Gnl3 G A 14: 30,739,803 (GRCm39) R12C probably damaging Het
Golga2 T G 2: 32,187,807 (GRCm39) probably null Het
Grk3 T A 5: 113,062,878 (GRCm39) R656S probably benign Het
Gsap T A 5: 21,412,236 (GRCm39) probably benign Het
H60c T C 10: 3,210,240 (GRCm39) Q103R probably benign Het
Hnrnpr T A 4: 136,056,755 (GRCm39) S252T probably damaging Het
Itgb4 A T 11: 115,869,937 (GRCm39) T40S probably benign Het
Krtap27-1 T C 16: 88,468,302 (GRCm39) N81D probably benign Het
Lilrb4a T A 10: 51,367,683 (GRCm39) L75Q probably benign Het
Lrp2 T A 2: 69,313,738 (GRCm39) D2331V probably damaging Het
Lrp2 T A 2: 69,290,821 (GRCm39) E3546D probably damaging Het
Lzts2 T A 19: 45,009,893 (GRCm39) V9E probably damaging Het
Matr3 T A 18: 35,717,709 (GRCm39) D302E probably benign Het
Mcoln2 A G 3: 145,897,979 (GRCm39) probably null Het
Metap2 T C 10: 93,704,811 (GRCm39) D272G probably damaging Het
Mitf A G 6: 97,987,428 (GRCm39) D337G probably damaging Het
Mrtfb T C 16: 13,219,433 (GRCm39) V693A possibly damaging Het
Msh2 A G 17: 87,985,771 (GRCm39) E116G probably benign Het
Nlrp10 T A 7: 108,523,555 (GRCm39) M642L probably benign Het
Noxa1 G T 2: 24,982,558 (GRCm39) Q86K probably benign Het
Nrap T C 19: 56,372,562 (GRCm39) T48A probably benign Het
Nup160 T A 2: 90,520,494 (GRCm39) H308Q probably damaging Het
Osbpl11 T C 16: 33,056,699 (GRCm39) L711P probably damaging Het
Osbpl6 A G 2: 76,385,409 (GRCm39) N281S probably benign Het
Pcnp C T 16: 55,844,703 (GRCm39) E66K possibly damaging Het
Phf11 T A 14: 59,482,227 (GRCm39) E175D probably damaging Het
Pik3cg A G 12: 32,254,983 (GRCm39) Y335H probably damaging Het
Plekhg4 T C 8: 106,108,431 (GRCm39) L1053S probably damaging Het
Plekhh2 G T 17: 84,918,203 (GRCm39) E1271* probably null Het
Ppp2r2b T A 18: 42,871,055 (GRCm39) Y82F probably damaging Het
Prkd3 T C 17: 79,278,796 (GRCm39) D430G probably damaging Het
Prl7d1 C T 13: 27,893,240 (GRCm39) D224N possibly damaging Het
Ptpdc1 A T 13: 48,740,173 (GRCm39) N419K possibly damaging Het
Serinc5 T A 13: 92,797,695 (GRCm39) probably null Het
Sipa1 A G 19: 5,701,692 (GRCm39) L981P probably damaging Het
Slc16a7 A T 10: 125,066,489 (GRCm39) C383* probably null Het
Slc19a1 C G 10: 76,878,369 (GRCm39) Y301* probably null Het
Slc22a14 A T 9: 119,052,827 (GRCm39) V14E possibly damaging Het
Slpi C A 2: 164,196,837 (GRCm39) C95F probably damaging Het
Smurf2 G A 11: 106,743,333 (GRCm39) H225Y possibly damaging Het
Son T C 16: 91,452,230 (GRCm39) S326P possibly damaging Het
Sptb T A 12: 76,658,657 (GRCm39) K1262M probably benign Het
Sugp2 T A 8: 70,696,714 (GRCm39) probably benign Het
Tatdn2 T A 6: 113,687,031 (GRCm39) H747Q probably damaging Het
Tcn2 C A 11: 3,877,516 (GRCm39) R44L probably benign Het
Tenm3 G A 8: 48,689,006 (GRCm39) R2194C probably damaging Het
Tnks2 T A 19: 36,822,931 (GRCm39) probably benign Het
Top3a A T 11: 60,650,188 (GRCm39) I120N probably damaging Het
Ush2a T C 1: 188,595,048 (GRCm39) S3827P probably benign Het
Vasn T A 16: 4,466,473 (GRCm39) probably null Het
Vmn2r69 A T 7: 85,055,908 (GRCm39) C743* probably null Het
Vmn2r79 C A 7: 86,687,002 (GRCm39) H794Q probably benign 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 31,201,232 (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
R1757:Umodl1 UTSW 17 31,227,674 (GRCm39) missense probably damaging 0.99
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'- GTCACTAAGTTCCAAGCACCCAAGG -3'
(R):5'- GGCACAACCAACATTTCTGGCAAG -3'

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