Incidental Mutation 'R1654:Umodl1'
ID 188977
Institutional Source Beutler Lab
Gene Symbol Umodl1
Ensembl Gene ENSMUSG00000054134
Gene Name uromodulin-like 1
Synonyms D17Ertd488e
MMRRC Submission 039690-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1654 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 31173614-31229684 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 31206942 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 778 (M778L)
Ref Sequence ENSEMBL: ENSMUSP00000110202 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066554] [ENSMUST00000066981] [ENSMUST00000114555]
AlphaFold Q5DID3
Predicted Effect probably benign
Transcript: ENSMUST00000066554
AA Change: M778L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000067443
Gene: ENSMUSG00000054134
AA Change: M778L

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
SMART Domains Protein: ENSMUSP00000065470
Gene: ENSMUSG00000054134

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: M778L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110202
Gene: ENSMUSG00000054134
AA Change: M778L

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: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik C T 11: 109,688,225 (GRCm39) S90N probably benign Het
Apc2 C T 10: 80,137,676 (GRCm39) T39I possibly damaging Het
Arfgef3 C T 10: 18,500,896 (GRCm39) R1118K probably null Het
Arhgef12 T C 9: 42,908,956 (GRCm39) D658G possibly damaging Het
Asph G T 4: 9,453,315 (GRCm39) R736S probably benign Het
Bcas1 C T 2: 170,191,166 (GRCm39) G542E probably damaging Het
Brd8 A T 18: 34,744,279 (GRCm39) V183E probably damaging Het
C1rl G A 6: 124,470,869 (GRCm39) G59E probably damaging Het
Cacna1i C A 15: 80,273,411 (GRCm39) A1699D probably damaging Het
Card6 G T 15: 5,128,214 (GRCm39) Q1061K probably benign Het
Cd163 G T 6: 124,294,540 (GRCm39) C566F probably damaging Het
Cd84 C T 1: 171,712,173 (GRCm39) T263I possibly damaging Het
Cep63 T C 9: 102,464,112 (GRCm39) I740V possibly damaging Het
Chaf1b C A 16: 93,691,791 (GRCm39) A279D probably damaging Het
Chsy3 A T 18: 59,309,488 (GRCm39) Y247F probably damaging Het
Cpxm1 G A 2: 130,235,466 (GRCm39) L509F possibly damaging Het
Disc1 A T 8: 125,875,204 (GRCm39) Q558L possibly damaging Het
Dnah3 A T 7: 119,525,672 (GRCm39) L3894Q probably damaging Het
Dnmt1 G T 9: 20,847,870 (GRCm39) T105N possibly damaging Het
Dock6 A T 9: 21,716,139 (GRCm39) L1732Q probably damaging Het
Dsc2 T C 18: 20,179,303 (GRCm39) N255S probably benign Het
Dsel A T 1: 111,790,242 (GRCm39) Y98N probably damaging Het
Enox1 T A 14: 77,848,814 (GRCm39) I375N possibly damaging Het
Epha4 T A 1: 77,351,405 (GRCm39) probably null Het
Fktn A G 4: 53,761,220 (GRCm39) I446V probably benign Het
Garin4 T C 1: 190,895,678 (GRCm39) R322G probably benign Het
Gm7361 G T 5: 26,466,097 (GRCm39) R153L probably damaging Het
Grin2c C T 11: 115,151,679 (GRCm39) V94I probably benign Het
Kalrn T G 16: 33,796,108 (GRCm39) L1222F probably damaging Het
Krt80 T C 15: 101,249,590 (GRCm39) K255E probably damaging Het
Lcn6 T A 2: 25,570,787 (GRCm39) probably null Het
Lonp2 T G 8: 87,358,078 (GRCm39) L100V probably damaging Het
Lyn G A 4: 3,789,912 (GRCm39) A482T probably damaging Het
Mapk4 A G 18: 74,064,010 (GRCm39) F404S probably damaging Het
Mast2 T C 4: 116,173,747 (GRCm39) probably null Het
Medag T C 5: 149,345,600 (GRCm39) Y94H probably damaging Het
Megf8 T C 7: 25,037,911 (GRCm39) L809P possibly damaging Het
Mgam T C 6: 40,734,421 (GRCm39) S743P probably damaging Het
Mia2 C A 12: 59,155,619 (GRCm39) T445K possibly damaging Het
Mtcl3 A T 10: 29,022,931 (GRCm39) probably null Het
Nars1 C G 18: 64,645,120 (GRCm39) A43P probably damaging Het
Nav3 T C 10: 109,688,984 (GRCm39) N431S possibly damaging Het
Ndufaf5 A G 2: 140,019,220 (GRCm39) probably null Het
Nlrp1b T G 11: 71,072,124 (GRCm39) E573A probably damaging Het
Nlrp3 T C 11: 59,433,949 (GRCm39) V4A probably benign Het
Or2y1d G A 11: 49,321,329 (GRCm39) G9R probably benign Het
Or56b2 A T 7: 104,337,420 (GRCm39) Y66F probably benign Het
Or5ac15 T C 16: 58,940,052 (GRCm39) N127S possibly damaging Het
Pcdhb12 A T 18: 37,569,754 (GRCm39) D300V probably damaging Het
Pik3c2a A T 7: 115,968,083 (GRCm39) C804S probably benign Het
Pkp4 A T 2: 59,167,963 (GRCm39) Q725L probably damaging Het
Ptpre T A 7: 135,255,657 (GRCm39) S119T probably benign Het
Ptprk G A 10: 28,259,643 (GRCm39) R361H probably damaging Het
Ptprr T C 10: 116,024,268 (GRCm39) V193A probably benign Het
Rfx2 C T 17: 57,115,263 (GRCm39) A19T probably benign Het
Rgs4 T A 1: 169,572,880 (GRCm39) M19L probably benign Het
Rnf157 T C 11: 116,249,541 (GRCm39) H225R probably damaging Het
Rnf44 A T 13: 54,829,592 (GRCm39) D341E possibly damaging Het
Sct T A 7: 140,858,767 (GRCm39) Q55L probably damaging Het
Sh3rf1 A T 8: 61,814,779 (GRCm39) H446L possibly damaging Het
Shisa3 A T 5: 67,768,402 (GRCm39) I101F probably damaging Het
Slc6a13 A G 6: 121,313,885 (GRCm39) I543V probably benign Het
Spef2 G A 15: 9,634,738 (GRCm39) A1024V probably damaging Het
St6galnac6 T C 2: 32,509,521 (GRCm39) S330P probably damaging Het
Stard9 G T 2: 120,534,203 (GRCm39) A3487S probably benign Het
Suclg2 T C 6: 95,632,532 (GRCm39) S46G probably damaging Het
Syne2 T C 12: 76,147,868 (GRCm39) V6469A possibly damaging Het
Tada2b C T 5: 36,641,139 (GRCm39) G88D probably damaging Het
Tll1 A T 8: 64,570,937 (GRCm39) probably null Het
Tph2 T A 10: 115,020,712 (GRCm39) H28L probably benign Het
Trmt6 C A 2: 132,657,755 (GRCm39) V34L possibly damaging Het
Ttc22 A G 4: 106,491,408 (GRCm39) T204A probably damaging Het
Vcan T C 13: 89,810,065 (GRCm39) H2282R probably damaging Het
Vmn2r77 T A 7: 86,461,123 (GRCm39) S816R probably damaging Het
Vps13c T A 9: 67,858,969 (GRCm39) F2806L probably damaging Het
Zbtb4 C A 11: 69,669,995 (GRCm39) A906D probably damaging Het
Zscan29 A G 2: 120,995,260 (GRCm39) V421A 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
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'- TGGGGTCATGAGAGTCTGCATCAC -3'
(R):5'- GTCTGCTTGCCCAGAGATCCTTAC -3'

Sequencing Primer
(F):5'- TCCCACAATGTAGGTGGATCG -3'
(R):5'- CAGAGATCCTTACCTGTCCG -3'
Posted On 2014-05-09