Incidental Mutation 'G1citation:Umodl1'
ID 660755
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 # G1citation (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 30954679-31010708 bp(+) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 30986554 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 708 (Q708*)
Ref Sequence ENSEMBL: ENSMUSP00000110202 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066554] [ENSMUST00000066981] [ENSMUST00000114555]
AlphaFold Q5DID3
Predicted Effect probably null
Transcript: ENSMUST00000066554
AA Change: Q708*
SMART Domains Protein: ENSMUSP00000067443
Gene: ENSMUSG00000054134
AA Change: Q708*

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 null
Transcript: ENSMUST00000066981
AA Change: Q679*
SMART Domains Protein: ENSMUSP00000065470
Gene: ENSMUSG00000054134
AA Change: Q679*

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 null
Transcript: ENSMUST00000114555
AA Change: Q708*
SMART Domains Protein: ENSMUSP00000110202
Gene: ENSMUSG00000054134
AA Change: Q708*

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 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 94% (46/49)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam11 G A 11: 102,776,675 (GRCm38) R687Q possibly damaging Het
AI987944 A G 7: 41,374,808 (GRCm38) L249P probably damaging Het
Ankrd28 T A 14: 31,736,840 (GRCm38) probably null Het
Bahcc1 T C 11: 120,287,721 (GRCm38) S2369P probably damaging Het
Birc6 A T 17: 74,598,044 (GRCm38) K1277N probably damaging Het
Birc6 T C 17: 74,580,382 (GRCm38) S902P possibly damaging Het
Brwd1 T C 16: 96,041,274 (GRCm38) E821G probably benign Het
Cct8l1 T C 5: 25,517,939 (GRCm38) S551P possibly damaging Het
Cmtm1 TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG 8: 104,309,702 (GRCm38) probably null Het
Cyp2c39 A T 19: 39,536,817 (GRCm38) D188V probably damaging Het
Dclk3 G T 9: 111,439,337 (GRCm38) A25S probably benign Het
Dpep2 A T 8: 105,985,241 (GRCm38) M518K probably benign Het
Dst T C 1: 34,275,674 (GRCm38) V6462A probably damaging Het
Entpd3 T C 9: 120,562,038 (GRCm38) probably null Het
Epm2aip1 T C 9: 111,272,556 (GRCm38) V199A probably damaging Het
Fam193b A G 13: 55,541,691 (GRCm38) probably benign Het
Fam50b G A 13: 34,747,101 (GRCm38) E187K possibly damaging Het
Fat1 A G 8: 45,026,404 (GRCm38) D2829G probably damaging Het
Fcgbp T A 7: 28,107,356 (GRCm38) Y2250N probably damaging Het
Grik5 C T 7: 25,046,355 (GRCm38) R431Q possibly damaging Het
H2-Aa C T 17: 34,287,677 (GRCm38) probably null Het
Igsf9 T A 1: 172,497,163 (GRCm38) S883T possibly damaging Het
Kcnh7 T G 2: 62,787,904 (GRCm38) I414L probably damaging Het
Kcnma1 T C 14: 24,003,744 (GRCm38) probably null Het
Kcnmb1 T C 11: 33,964,686 (GRCm38) probably benign Het
Kmt2d A G 15: 98,849,459 (GRCm38) probably benign Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,189,077 (GRCm38) probably benign Het
Nlgn1 T C 3: 26,133,647 (GRCm38) T30A probably benign Het
Nucb1 A G 7: 45,498,865 (GRCm38) F175L probably damaging Het
Pax6 T A 2: 105,685,923 (GRCm38) V182E probably benign Het
Ptger1 A G 8: 83,668,650 (GRCm38) D252G probably benign Het
Rexo4 T C 2: 26,960,271 (GRCm38) D275G probably damaging Het
Ripk4 T C 16: 97,746,036 (GRCm38) D342G probably damaging Het
Rpl10l A T 12: 66,284,213 (GRCm38) C49S possibly damaging Het
Sema7a T C 9: 57,960,336 (GRCm38) F457S probably damaging Het
Shank3 G A 15: 89,531,627 (GRCm38) D155N probably damaging Het
Smpd3 G A 8: 106,265,964 (GRCm38) probably benign Het
Smpd4 T C 16: 17,640,233 (GRCm38) V465A probably damaging Het
Sohlh2 T C 3: 55,207,686 (GRCm38) V364A probably damaging Het
Sos2 C T 12: 69,650,649 (GRCm38) R99Q probably damaging Het
Spry2 G A 14: 105,893,357 (GRCm38) Q132* probably null Het
Tbx19 G T 1: 165,140,140 (GRCm38) P346Q probably damaging Het
Tdrd6 A G 17: 43,627,215 (GRCm38) Y981H probably damaging Het
Tinag T C 9: 77,031,702 (GRCm38) K165E probably benign Het
Tubb4a A T 17: 57,080,904 (GRCm38) I374N probably damaging Het
Vmn2r3 A T 3: 64,287,455 (GRCm38) V14E probably benign Het
Zfp82 G A 7: 30,056,287 (GRCm38) L457F 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
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
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'- TGGGGTGACAAGCTCTGTTC -3'
(R):5'- GTCTGAGCCCACCTATGTTCAAG -3'

Sequencing Primer
(F):5'- GTGACAAGCTCTGTTCCCTGG -3'
(R):5'- TGAGCCCACCTATGTTCAAGATGAG -3'
Posted On 2021-02-01