Incidental Mutation 'R2057:Umodl1'
ID 228313
Institutional Source Beutler Lab
Gene Symbol Umodl1
Ensembl Gene ENSMUSG00000054134
Gene Name uromodulin-like 1
Synonyms D17Ertd488e
MMRRC Submission 040062-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2057 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 31173614-31229684 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 31227740 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000110202 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066554] [ENSMUST00000066554] [ENSMUST00000066981] [ENSMUST00000066981] [ENSMUST00000114555] [ENSMUST00000114555]
AlphaFold Q5DID3
Predicted Effect probably null
Transcript: ENSMUST00000066554
SMART Domains Protein: ENSMUSP00000067443
Gene: ENSMUSG00000054134

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: ENSMUST00000066554
SMART Domains Protein: ENSMUSP00000067443
Gene: ENSMUSG00000054134

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
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 null
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 null
Transcript: ENSMUST00000114555
SMART Domains Protein: ENSMUSP00000110202
Gene: ENSMUSG00000054134

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
Predicted Effect probably null
Transcript: ENSMUST00000114555
SMART Domains Protein: ENSMUSP00000110202
Gene: ENSMUSG00000054134

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A G 19: 43,806,477 (GRCm39) K764E probably damaging Het
Abcg2 T C 6: 58,667,525 (GRCm39) V129A probably benign Het
Adgrf5 A G 17: 43,739,477 (GRCm39) Y72C possibly damaging Het
Ago1 C T 4: 126,337,021 (GRCm39) R228H probably damaging Het
Ano1 A G 7: 144,201,789 (GRCm39) V334A probably damaging Het
Apob A T 12: 8,052,164 (GRCm39) R1202* probably null Het
Arfgap3 G T 15: 83,194,501 (GRCm39) D389E probably benign Het
Atf6b A T 17: 34,867,549 (GRCm39) probably null Het
Atoh8 T C 6: 72,212,112 (GRCm39) K13E probably damaging Het
Bicral G T 17: 47,135,814 (GRCm39) N465K possibly damaging Het
Bves T A 10: 45,219,231 (GRCm39) Y110N probably damaging Het
C4b A G 17: 34,947,594 (GRCm39) Y1695H probably damaging Het
Cage1 A G 13: 38,207,356 (GRCm39) V163A probably benign Het
Canx T C 11: 50,195,252 (GRCm39) N272S probably damaging Het
Caskin1 G T 17: 24,715,433 (GRCm39) G93V probably damaging Het
Cd34 T C 1: 194,641,450 (GRCm39) V292A probably damaging Het
Cd84 A G 1: 171,700,317 (GRCm39) T145A possibly damaging Het
Cdh16 C A 8: 105,348,597 (GRCm39) G144* probably null Het
Chaf1b T A 16: 93,691,795 (GRCm39) H280Q probably damaging Het
Chpf2 G A 5: 24,796,220 (GRCm39) G389R probably damaging Het
Crb1 T C 1: 139,242,488 (GRCm39) Y330C probably damaging Het
Cux2 A T 5: 122,007,567 (GRCm39) V698E probably benign Het
Dhtkd1 A G 2: 5,947,430 (GRCm39) V18A unknown Het
Dmbt1 G A 7: 130,707,900 (GRCm39) A1381T possibly damaging Het
Enpp1 C G 10: 24,536,090 (GRCm39) A437P probably damaging Het
Fat2 C T 11: 55,172,686 (GRCm39) V2676I possibly damaging Het
Fzd2 A G 11: 102,496,759 (GRCm39) D401G probably damaging Het
Gcm2 T C 13: 41,263,430 (GRCm39) M1V probably null Het
Gnai3 C T 3: 108,019,812 (GRCm39) V233I probably benign Het
Golim4 T A 3: 75,802,194 (GRCm39) D366V possibly damaging Het
Grin1 T A 2: 25,206,832 (GRCm39) T110S probably damaging Het
Grin2a A G 16: 9,487,608 (GRCm39) V430A probably benign Het
Gstp3 G A 19: 4,109,282 (GRCm39) T5I probably damaging Het
Il17rb T A 14: 29,719,111 (GRCm39) M324L probably benign Het
Jmy A G 13: 93,596,211 (GRCm39) Y473H probably damaging Het
Khdc1b A G 1: 21,454,534 (GRCm39) D79G probably benign Het
Kremen2 T C 17: 23,961,691 (GRCm39) E272G possibly damaging Het
Lmo7 G C 14: 102,124,614 (GRCm39) A358P probably damaging Het
Mdh1b T C 1: 63,760,741 (GRCm39) I107V probably benign Het
Mlkl T C 8: 112,060,242 (GRCm39) Q48R probably benign Het
Myh2 G A 11: 67,079,665 (GRCm39) probably null Het
Naip1 T A 13: 100,562,081 (GRCm39) Q1028L probably damaging Het
Ncald T A 15: 37,397,423 (GRCm39) I86F possibly damaging Het
Nid1 A C 13: 13,675,058 (GRCm39) H926P probably benign Het
Nlrp9a T A 7: 26,256,787 (GRCm39) I46K possibly damaging Het
Or1p1 A G 11: 74,179,652 (GRCm39) Y60C probably damaging Het
Or9r3 A T 10: 129,947,859 (GRCm39) S267T probably benign Het
Pak1 T A 7: 97,557,004 (GRCm39) probably null Het
Parpbp T A 10: 87,960,824 (GRCm39) M221L probably benign Het
Pde12 T C 14: 26,390,035 (GRCm39) I225V probably benign Het
Phf19 G T 2: 34,789,620 (GRCm39) R367S probably benign Het
Plcl2 A G 17: 50,975,139 (GRCm39) probably null Het
Plxnb1 A T 9: 108,938,294 (GRCm39) I1283F possibly damaging Het
Pramel6 T A 2: 87,339,059 (GRCm39) N86K possibly damaging Het
Prkdc A G 16: 15,545,469 (GRCm39) T1862A probably benign Het
Prpf40a A T 2: 53,034,851 (GRCm39) I779K probably damaging Het
Prss3b G A 6: 41,009,315 (GRCm39) T173I probably benign Het
Ptpn20 A T 14: 33,352,942 (GRCm39) E227V probably damaging Het
Rad54b C T 4: 11,606,088 (GRCm39) R499C probably benign Het
Rarg C A 15: 102,147,939 (GRCm39) A291S probably damaging Het
Rnf169 A T 7: 99,574,615 (GRCm39) L660Q probably damaging Het
Scn4a A G 11: 106,226,550 (GRCm39) V670A probably damaging Het
Serpinb9c A T 13: 33,340,854 (GRCm39) C81* probably null Het
Sik1 A G 17: 32,067,771 (GRCm39) S435P probably benign Het
Slc35g2 G A 9: 100,435,329 (GRCm39) A114V probably damaging Het
Slc7a14 A T 3: 31,291,645 (GRCm39) V211E probably damaging Het
Snrpn A T 7: 59,637,204 (GRCm39) H37Q possibly damaging Het
Spock3 T A 8: 63,698,204 (GRCm39) C185* probably null Het
Tbc1d4 A G 14: 101,714,591 (GRCm39) S627P probably damaging Het
Tgoln1 T C 6: 72,592,653 (GRCm39) T276A probably benign Het
Tmem176b G A 6: 48,813,267 (GRCm39) T64I probably damaging Het
Tnpo2 T C 8: 85,776,742 (GRCm39) L483P probably damaging Het
Tpte T A 8: 22,808,355 (GRCm39) D163E probably benign Het
Trim36 A T 18: 46,329,229 (GRCm39) D70E probably benign Het
Wdr90 T C 17: 26,074,173 (GRCm39) T691A probably benign Het
Zdhhc8 A G 16: 18,046,210 (GRCm39) S118P probably damaging Het
Zfp438 T C 18: 5,214,085 (GRCm39) E291G probably benign Het
Zfp879 C T 11: 50,723,428 (GRCm39) E543K 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
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'- GGGACCGGTTACATCATTCTCC -3'
(R):5'- TACCAGGGTCACTGTACCAC -3'

Sequencing Primer
(F):5'- ACATCATTCTCCTAGCGGCAG -3'
(R):5'- CTACCTGAGACCATGGTGTAAATG -3'
Posted On 2014-09-17