Incidental Mutation 'R7231:Umodl1'
ID 562507
Institutional Source Beutler Lab
Gene Symbol Umodl1
Ensembl Gene ENSMUSG00000054134
Gene Name uromodulin-like 1
Synonyms D17Ertd488e
MMRRC Submission 045342-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7231 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 31173614-31229684 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 31205090 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 562 (V562I)
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: V562I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000067443
Gene: ENSMUSG00000054134
AA Change: V562I

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: V562I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065470
Gene: ENSMUSG00000054134
AA Change: V562I

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: V562I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110202
Gene: ENSMUSG00000054134
AA Change: V562I

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 0.1203 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 98% (78/80)
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,244,175 (GRCm39) T2013S probably benign Het
Ablim3 A G 18: 61,938,135 (GRCm39) probably null Het
Acvrl1 T A 15: 101,034,104 (GRCm39) C206* probably null Het
Adamts15 C A 9: 30,817,454 (GRCm39) R541S probably damaging Het
Add3 A G 19: 53,221,577 (GRCm39) I230V probably benign Het
Ankrd27 A G 7: 35,327,871 (GRCm39) D742G possibly damaging Het
Asxl3 A G 18: 22,650,597 (GRCm39) E862G probably damaging Het
Asxl3 A T 18: 22,544,556 (GRCm39) probably null Het
Atp2b2 G A 6: 113,742,693 (GRCm39) T798M possibly damaging Het
Car12 T C 9: 66,659,599 (GRCm39) I208T probably damaging Het
Cgn T A 3: 94,680,502 (GRCm39) Q600L probably damaging Het
Cgnl1 C T 9: 71,539,927 (GRCm39) A1106T probably benign Het
Cmtr2 T C 8: 110,949,178 (GRCm39) V496A probably benign Het
Cplx4 C A 18: 66,090,123 (GRCm39) D99Y probably damaging Het
Cyfip2 T C 11: 46,114,963 (GRCm39) T915A probably benign Het
Cyp4a32 T C 4: 115,466,894 (GRCm39) L193P probably damaging Het
Dennd5b C T 6: 148,946,102 (GRCm39) R503Q probably damaging Het
Depdc5 C A 5: 33,059,209 (GRCm39) Q303K possibly damaging Het
Dlx1 T A 2: 71,362,840 (GRCm39) M249K possibly damaging Het
Dnah10 A T 5: 124,890,892 (GRCm39) E3218V probably benign Het
Dnah9 T C 11: 65,856,473 (GRCm39) D2896G probably damaging Het
Dtx4 C A 19: 12,447,022 (GRCm39) G557* probably null Het
Eps8l2 A G 7: 140,940,305 (GRCm39) N512D probably damaging Het
Fam20a T C 11: 109,612,201 (GRCm39) D114G possibly damaging Het
Fbln1 T C 15: 85,090,353 (GRCm39) S7P unknown Het
Fli1 T C 9: 32,335,484 (GRCm39) E316G probably damaging Het
Fmn2 CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC 1: 174,436,769 (GRCm39) probably benign Het
Haus8 G A 8: 71,705,781 (GRCm39) T302I probably benign Het
Hmcn1 T C 1: 150,514,627 (GRCm39) I3582V probably benign Het
Hnrnpul1 G A 7: 25,447,842 (GRCm39) Q161* probably null Het
Hsf4 C T 8: 105,998,779 (GRCm39) A223V probably damaging Het
Ighg2c A G 12: 113,251,636 (GRCm39) W164R Het
Isl1 A G 13: 116,439,826 (GRCm39) V174A probably benign Het
Itih4 A T 14: 30,618,571 (GRCm39) I661F probably benign Het
Klhl14 A T 18: 21,785,193 (GRCm39) L78Q probably damaging Het
L3mbtl3 T A 10: 26,215,180 (GRCm39) I177F unknown Het
Lingo3 T A 10: 80,670,938 (GRCm39) T331S possibly damaging Het
Lrrc36 T C 8: 106,187,689 (GRCm39) V535A possibly damaging Het
Mapk8ip2 T G 15: 89,342,279 (GRCm39) S497A probably benign Het
Mbip A G 12: 56,384,547 (GRCm39) probably null Het
Nelfa C T 5: 34,056,169 (GRCm39) G498D probably damaging Het
Nherf2 C T 17: 24,869,078 (GRCm39) R16H probably damaging Het
Nlrc5 T A 8: 95,248,433 (GRCm39) probably null Het
Or2ag2b A T 7: 106,417,650 (GRCm39) Y120F probably damaging Het
Or4f59 A T 2: 111,872,711 (GRCm39) V222D probably damaging Het
Or56a3 T C 7: 104,734,994 (GRCm39) S24P possibly damaging Het
Or7e171-ps1 T A 9: 19,852,855 (GRCm39) T294S unknown Het
Pde2a A G 7: 101,155,160 (GRCm39) Y567C probably damaging Het
Pdia4 A T 6: 47,777,891 (GRCm39) F367Y probably benign Het
Pkdrej C A 15: 85,700,389 (GRCm39) C1849F possibly damaging Het
Plekhj1 T G 10: 80,633,492 (GRCm39) T52P probably damaging Het
Ppp2r5d A T 17: 46,994,986 (GRCm39) Y572N probably benign Het
Prkcq T A 2: 11,295,262 (GRCm39) Y570* probably null Het
Ptpn3 T A 4: 57,245,062 (GRCm39) D226V probably damaging Het
Rab1b A G 19: 5,155,229 (GRCm39) S22P probably damaging Het
Ralgapa1 A G 12: 55,650,976 (GRCm39) S2060P probably damaging Het
Rnf148 G T 6: 23,654,890 (GRCm39) S35R probably benign Het
Runx2 G A 17: 45,125,079 (GRCm39) P80L probably damaging Het
Samd15 T A 12: 87,247,818 (GRCm39) S168T possibly damaging Het
Slc26a4 T A 12: 31,597,945 (GRCm39) N167I probably damaging Het
Slc39a1 C A 3: 90,159,097 (GRCm39) H141Q probably benign Het
Snx21 T C 2: 164,628,121 (GRCm39) S46P probably benign Het
Strip2 A G 6: 29,944,486 (GRCm39) S657G probably damaging Het
Stxbp3 G A 3: 108,708,125 (GRCm39) P392L probably damaging Het
Suclg1 G A 6: 73,240,954 (GRCm39) R161H probably benign Het
Tas1r3 T C 4: 155,947,283 (GRCm39) Y134C probably damaging Het
Tgif1 T A 17: 71,153,168 (GRCm39) Q114L probably damaging Het
Tll2 A G 19: 41,074,673 (GRCm39) F964L probably benign Het
Tmem181a T C 17: 6,348,195 (GRCm39) S247P possibly damaging Het
Trav23 A T 14: 54,215,025 (GRCm39) R79S probably damaging Het
Trf C A 9: 103,102,347 (GRCm39) C177F probably damaging Het
Triml1 T C 8: 43,589,408 (GRCm39) Y260C probably benign Het
Tulp4 T C 17: 6,286,510 (GRCm39) F1513L probably benign Het
Ush2a A G 1: 188,491,960 (GRCm39) K3083R possibly damaging Het
Vmn1r74 A T 7: 11,580,888 (GRCm39) I63F probably benign Het
Vmn2r38 C T 7: 9,100,637 (GRCm39) C43Y possibly damaging Het
Vmn2r50 A T 7: 9,787,010 (GRCm39) N32K probably benign Het
Vps13d A G 4: 144,784,032 (GRCm39) V3914A Het
Vwa5b2 A G 16: 20,422,878 (GRCm39) T984A probably benign Het
Zc3h3 C T 15: 75,712,231 (GRCm39) V77M probably damaging Het
Zfp397 A T 18: 24,093,415 (GRCm39) H300L probably damaging Het
Zfp950 G A 19: 61,107,650 (GRCm39) R478C 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 31,205,478 (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
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
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'- TCTCTCCAGACTCACAAAGGG -3'
(R):5'- AGGGAACAGAGCTTGTCACC -3'

Sequencing Primer
(F):5'- TCTCCAGACTCACAAAGGGTTGAG -3'
(R):5'- AGAGCTTGTCACCCCACTG -3'
Posted On 2019-06-26