Incidental Mutation 'R6283:Uevld'
ID 508047
Institutional Source Beutler Lab
Gene Symbol Uevld
Ensembl Gene ENSMUSG00000043262
Gene Name UEV and lactate/malate dehyrogenase domains
Synonyms Attp, 8430408E05Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # R6283 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 46923216-46958527 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 46937981 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 324 (Q324K)
Ref Sequence ENSEMBL: ENSMUSP00000091964 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094398] [ENSMUST00000207986]
AlphaFold Q3U1V6
Predicted Effect possibly damaging
Transcript: ENSMUST00000094398
AA Change: Q324K

PolyPhen 2 Score 0.718 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000091964
Gene: ENSMUSG00000043262
AA Change: Q324K

DomainStartEndE-ValueType
UBCc 18 171 3.36e-2 SMART
Pfam:Ldh_1_N 183 316 2.6e-19 PFAM
Pfam:Ldh_1_C 319 469 3.4e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207986
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.1%
Validation Efficiency 100% (59/59)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1300017J02Rik G A 9: 103,282,635 R14* probably null Het
Acsf3 C A 8: 122,785,955 R372S probably damaging Het
Adamts20 A G 15: 94,351,721 S472P probably benign Het
Bhlhe40 T C 6: 108,665,031 L312P probably damaging Het
Ccdc180 A G 4: 45,902,486 E305G possibly damaging Het
Ccdc83 T A 7: 90,236,407 R257* probably null Het
Cd209e G A 8: 3,849,212 Q167* probably null Het
Cd300e G A 11: 115,054,554 T138I probably benign Het
Ces2c A T 8: 104,849,699 M115L probably benign Het
Cfap61 T A 2: 146,129,102 probably null Het
Chd1l G A 3: 97,587,167 A399V probably damaging Het
Cic C T 7: 25,286,034 S301L probably damaging Het
Cks2 A G 13: 51,645,459 H16R probably benign Het
Copa A T 1: 172,118,848 H953L possibly damaging Het
Ctdsp2 T C 10: 126,995,880 V145A possibly damaging Het
Cyp2j13 A G 4: 96,056,837 V377A possibly damaging Het
Dhx57 A G 17: 80,274,805 V404A probably benign Het
Dock2 T C 11: 34,707,325 S340G probably damaging Het
Ggps1 A G 13: 14,057,794 probably null Het
Gm10549 C A 18: 33,464,305 probably benign Het
Gm11444 T C 11: 85,846,791 probably null Het
Gm853 A G 4: 130,221,741 S5P probably benign Het
Grina A G 15: 76,248,551 T173A possibly damaging Het
Hcrtr1 G A 4: 130,135,340 T223I probably benign Het
Igsf10 T A 3: 59,319,449 T2268S probably damaging Het
Ino80d C T 1: 63,062,126 R447Q probably damaging Het
Inpp4b C T 8: 81,770,833 T94M probably damaging Het
Itga2 A G 13: 114,869,250 Y465H probably damaging Het
Knl1 A G 2: 119,070,286 T823A probably damaging Het
Krtap4-16 A G 11: 99,851,035 S180P unknown Het
Lpar6 A T 14: 73,238,857 D86V probably damaging Het
Muc5ac C A 7: 141,816,864 C2500* probably null Het
Mzf1 T C 7: 13,053,369 probably benign Het
Olfr1032 G T 2: 86,008,099 V108L possibly damaging Het
Olfr1176 T A 2: 88,339,658 I31N probably benign Het
Olfr1311 A C 2: 112,021,260 M198R possibly damaging Het
Olfr1352 T C 10: 78,984,279 V163A probably benign Het
Otogl T G 10: 107,790,500 E1501A probably damaging Het
Pcdh10 T A 3: 45,381,554 S768T possibly damaging Het
Pcnx2 G T 8: 125,877,586 Q644K probably damaging Het
Pdzd9 T A 7: 120,660,226 I180F possibly damaging Het
Pinx1 A C 14: 63,878,172 N152T probably benign Het
Prr14l T C 5: 32,830,264 E629G probably benign Het
Qpctl T A 7: 19,148,420 I104F probably benign Het
Rabep1 C T 11: 70,917,679 A444V probably damaging Het
Rnf150 A G 8: 82,990,554 Y230C probably damaging Het
Slc25a27 A C 17: 43,657,730 V152G probably damaging Het
Swt1 A G 1: 151,384,333 S772P possibly damaging Het
Tenm4 A G 7: 96,874,494 T1711A probably benign Het
Tfap2d G C 1: 19,104,478 G52R probably benign Het
Tmem265 T G 7: 127,564,872 V86G possibly damaging Het
Trpm8 C T 1: 88,348,332 H551Y probably benign Het
Ttc6 T G 12: 57,702,262 Y1327D possibly damaging Het
Vmn2r111 T C 17: 22,559,051 N549S possibly damaging Het
Vmn2r73 C T 7: 85,871,841 M306I probably benign Het
Vmn2r93 T A 17: 18,304,104 M120K probably benign Het
Zfp804b T A 5: 6,769,908 I1016F probably benign Het
Zfp90 T C 8: 106,425,394 C580R probably damaging Het
Other mutations in Uevld
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02858:Uevld APN 7 46955629 missense probably benign 0.31
IGL03294:Uevld APN 7 46931030 missense possibly damaging 0.84
R1344:Uevld UTSW 7 46938010 missense possibly damaging 0.93
R1418:Uevld UTSW 7 46938010 missense possibly damaging 0.93
R1698:Uevld UTSW 7 46955624 missense possibly damaging 0.92
R1848:Uevld UTSW 7 46945227 unclassified probably benign
R2872:Uevld UTSW 7 46947945 missense probably null 0.68
R2872:Uevld UTSW 7 46947945 missense probably null 0.68
R4426:Uevld UTSW 7 46940142 missense probably benign 0.15
R4664:Uevld UTSW 7 46937986 missense probably damaging 1.00
R5861:Uevld UTSW 7 46926356 missense probably benign 0.03
R7148:Uevld UTSW 7 46950976 missense probably damaging 0.99
R7706:Uevld UTSW 7 46948027 missense possibly damaging 0.52
R7718:Uevld UTSW 7 46938056 missense probably benign 0.03
R7727:Uevld UTSW 7 46943805 missense probably benign 0.13
R7775:Uevld UTSW 7 46926352 missense probably damaging 1.00
R7778:Uevld UTSW 7 46926352 missense probably damaging 1.00
R8349:Uevld UTSW 7 46945307 missense probably damaging 0.98
R8449:Uevld UTSW 7 46945307 missense probably damaging 0.98
R9061:Uevld UTSW 7 46938058 missense probably damaging 1.00
R9170:Uevld UTSW 7 46937998 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCTCTAAGTGTAAAGTCCCAG -3'
(R):5'- CAGATGAGCCAGGCTACAAG -3'

Sequencing Primer
(F):5'- GTGTAAAGTCCCAGCACACATCTG -3'
(R):5'- GTCCTGGAACTCACCCTGTAGAC -3'
Posted On 2018-03-15