Incidental Mutation 'R9270:Umodl1'
ID 702876
Institutional Source Beutler Lab
Gene Symbol Umodl1
Ensembl Gene ENSMUSG00000054134
Gene Name uromodulin-like 1
Synonyms D17Ertd488e
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9270 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 30954679-31010708 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30966704 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 139 (D139G)
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: D139G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000067443
Gene: ENSMUSG00000054134
AA Change: D139G

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: D139G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065470
Gene: ENSMUSG00000054134
AA Change: D139G

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: D139G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110202
Gene: ENSMUSG00000054134
AA Change: D139G

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 0.2894 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (85/85)
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actrt3 T A 3: 30,598,632 (GRCm38) E104D probably damaging Het
Aig1 T C 10: 13,653,761 (GRCm38) probably null Het
Arih2 A T 9: 108,616,691 (GRCm38) D174E probably damaging Het
Asprv1 T C 6: 86,629,095 (GRCm38) F308L probably damaging Het
Baiap2l2 A G 15: 79,284,005 (GRCm38) probably null Het
Btla T C 16: 45,244,293 (GRCm38) F203L possibly damaging Het
C1rb A T 6: 124,574,988 (GRCm38) D283V probably damaging Het
C87436 C G 6: 86,465,831 (GRCm38) Q462E probably benign Het
Ccdc149 T C 5: 52,406,010 (GRCm38) D147G possibly damaging Het
Chd6 A T 2: 161,029,873 (GRCm38) L214* probably null Het
Chrna4 C A 2: 181,028,850 (GRCm38) R371L possibly damaging Het
Cpne5 A G 17: 29,225,189 (GRCm38) probably null Het
Cr1l T C 1: 195,106,896 (GRCm38) E400G possibly damaging Het
Creb3l2 T C 6: 37,355,648 (GRCm38) N304D probably damaging Het
Cyp17a1 T C 19: 46,667,591 (GRCm38) T420A probably benign Het
Cyp24a1 A G 2: 170,485,933 (GRCm38) I463T probably damaging Het
Cyp3a41b A T 5: 145,578,163 (GRCm38) I84N probably damaging Het
Dnajc6 G A 4: 101,639,362 (GRCm38) V909M possibly damaging Het
Dtl A G 1: 191,556,811 (GRCm38) Y264H probably damaging Het
Dynlt5 A G 4: 102,988,758 (GRCm38) probably null Het
Dysf C T 6: 84,100,234 (GRCm38) R660* probably null Het
Egf A G 3: 129,735,800 (GRCm38) probably null Het
Eva1c T C 16: 90,904,343 (GRCm38) S402P probably benign Het
Fcho2 A T 13: 98,789,361 (GRCm38) probably null Het
Fhdc1 G A 3: 84,444,983 (GRCm38) R197C unknown Het
Foxa2 T A 2: 148,044,506 (GRCm38) M136L probably benign Het
Gm10226 T C 17: 21,691,959 (GRCm38) C34R possibly damaging Het
Gm8947 T C 1: 151,193,102 (GRCm38) S229P probably benign Het
Ift56 C T 6: 38,389,174 (GRCm38) probably benign Het
Ighv9-2 A T 12: 114,109,276 (GRCm38) S26T probably damaging Het
Itpr3 G A 17: 27,118,677 (GRCm38) probably benign Het
Kat6a T G 8: 22,930,174 (GRCm38) I745M probably damaging Het
Klhdc1 T C 12: 69,263,194 (GRCm38) L290P probably damaging Het
Lcp2 C T 11: 34,089,688 (GRCm38) T496I Het
Map4k4 T C 1: 40,003,763 (GRCm38) W593R probably benign Het
Mefv T G 16: 3,717,977 (GRCm38) Q29P probably damaging Het
Mgat5b T C 11: 116,968,443 (GRCm38) Y34H Het
Mlip C T 9: 77,229,798 (GRCm38) R609Q probably benign Het
Muc2 A G 7: 141,704,267 (GRCm38) D34G Het
Nbeal1 C T 1: 60,268,389 (GRCm38) P1687S possibly damaging Het
Notch1 T A 2: 26,479,883 (GRCm38) I477L probably damaging Het
Odad2 T A 18: 7,217,846 (GRCm38) K623* probably null Het
Olfr364-ps1 G A 2: 37,147,035 (GRCm38) M274I probably benign Het
Or1s2 T C 19: 13,780,969 (GRCm38) V117A probably benign Het
Or4a2 A T 2: 89,418,368 (GRCm38) L15Q probably damaging Het
Or51v8 T A 7: 103,670,917 (GRCm38) N38I probably damaging Het
Or6c214 A G 10: 129,755,279 (GRCm38) M57T probably damaging Het
Pak5 A T 2: 136,116,768 (GRCm38) S133R probably damaging Het
Pcyt1a C A 16: 32,466,514 (GRCm38) D187E probably benign Het
Pdlim7 G T 13: 55,507,541 (GRCm38) T161K probably damaging Het
Phf8-ps A C 17: 33,067,727 (GRCm38) C34G probably damaging Het
Pik3r4 A G 9: 105,669,909 (GRCm38) K962R probably benign Het
Pkd1l2 T C 8: 117,032,694 (GRCm38) K1516E probably damaging Het
Plk5 C G 10: 80,357,996 (GRCm38) R40G probably damaging Het
Ptchd3 A T 11: 121,842,354 (GRCm38) Y690F probably benign Het
Ptpn13 A T 5: 103,501,869 (GRCm38) R379S possibly damaging Het
Rbm27 C T 18: 42,305,764 (GRCm38) A410V probably benign Het
Rnase4 A G 14: 51,105,205 (GRCm38) T129A probably benign Het
Serpinb11 C T 1: 107,376,803 (GRCm38) T166I probably benign Het
Shank2 A G 7: 144,409,968 (GRCm38) T438A possibly damaging Het
Slc13a2 T C 11: 78,404,432 (GRCm38) N172D probably damaging Het
Slc2a8 A G 2: 32,974,852 (GRCm38) F428L probably damaging Het
Slc38a6 T C 12: 73,351,770 (GRCm38) M358T probably benign Het
Snx29 A G 16: 11,395,291 (GRCm38) H107R probably benign Het
Spint3 G A 2: 164,573,234 (GRCm38) A21V probably benign Het
Susd1 A T 4: 59,412,226 (GRCm38) V162E probably benign Het
Syne2 T G 12: 75,931,060 (GRCm38) N1426K probably damaging Het
Synj2 T C 17: 6,017,600 (GRCm38) V638A possibly damaging Het
Thada A T 17: 84,231,161 (GRCm38) L1473Q probably damaging Het
Trim36 G A 18: 46,167,513 (GRCm38) S697L possibly damaging Het
Ttbk1 A T 17: 46,470,591 (GRCm38) I412N possibly damaging Het
Tubb2a T C 13: 34,074,595 (GRCm38) D404G probably damaging Het
Tyk2 T A 9: 21,124,545 (GRCm38) N114Y probably damaging Het
Urb2 A G 8: 124,023,453 (GRCm38) probably benign Het
Vmn2r101 T A 17: 19,589,982 (GRCm38) N343K probably benign Het
Vnn1 A G 10: 23,904,566 (GRCm38) D484G probably damaging Het
Vps13b A G 15: 35,770,773 (GRCm38) T2121A probably benign Het
Wdr81 T C 11: 75,454,390 (GRCm38) E17G probably benign Het
Wnk2 T G 13: 49,071,029 (GRCm38) K1117Q probably benign Het
Zbtb46 C T 2: 181,424,345 (GRCm38) R4Q probably benign Het
Zfp608 T A 18: 54,899,118 (GRCm38) K583N probably damaging Het
Zfp729b A T 13: 67,592,361 (GRCm38) L595H probably 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
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
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'- AGTTCAATTAGGGTTGATGCCTT -3'
(R):5'- CAGGGCTCTAGGGACCAC -3'

Sequencing Primer
(F):5'- GTACTAGGAACTGAACCTTGGTCC -3'
(R):5'- CGTGGGGACAGGCAGAC -3'
Posted On 2022-03-25