Incidental Mutation 'R0603:Uaca'
ID 55558
Institutional Source Beutler Lab
Gene Symbol Uaca
Ensembl Gene ENSMUSG00000034485
Gene Name uveal autoantigen with coiled-coil domains and ankyrin repeats
Synonyms nucling, 2700059D02Rik
MMRRC Submission 038792-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.173) question?
Stock # R0603 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 60701824-60787652 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 60778379 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 920 (M920K)
Ref Sequence ENSEMBL: ENSMUSP00000151172 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050183] [ENSMUST00000214354]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000050183
AA Change: M922K

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000062047
Gene: ENSMUSG00000034485
AA Change: M922K

DomainStartEndE-ValueType
low complexity region 13 31 N/A INTRINSIC
ANK 35 68 2.66e3 SMART
ANK 69 98 1.96e-3 SMART
ANK 102 131 1.65e-1 SMART
ANK 135 164 1.38e-3 SMART
ANK 168 197 3.65e-3 SMART
ANK 201 230 6.26e-2 SMART
Blast:ANK 234 263 7e-9 BLAST
coiled coil region 301 381 N/A INTRINSIC
coiled coil region 445 626 N/A INTRINSIC
Pfam:TolA_bind_tri 869 943 4e-11 PFAM
coiled coil region 1009 1382 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000214354
AA Change: M920K

PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214997
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216574
Predicted Effect unknown
Transcript: ENSMUST00000217656
AA Change: M744K
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mice display swelling of and inflammatory lesions in the preputial gland. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc7 A G 5: 122,578,233 (GRCm39) N406S probably benign Het
Arhgap4 C T X: 72,950,389 (GRCm39) R54Q probably damaging Het
Asb15 T A 6: 24,556,556 (GRCm39) I17N probably damaging Het
Atp8a1 T C 5: 67,914,039 (GRCm39) probably null Het
Caprin1 A G 2: 103,627,146 (GRCm39) V47A probably benign Het
Col4a2 T C 8: 11,464,779 (GRCm39) V348A probably benign Het
Disp2 A G 2: 118,622,487 (GRCm39) K1073R probably damaging Het
Dmxl2 G A 9: 54,313,190 (GRCm39) H1686Y possibly damaging Het
Dzank1 C T 2: 144,353,432 (GRCm39) V152I probably benign Het
Elp1 A T 4: 56,792,105 (GRCm39) I221N possibly damaging Het
Evl T A 12: 108,614,681 (GRCm39) I25N probably damaging Het
Fam117a A G 11: 95,271,699 (GRCm39) K424E probably damaging Het
Gm17732 C T 18: 62,795,823 (GRCm39) probably benign Het
Gpr158 T C 2: 21,820,480 (GRCm39) I659T possibly damaging Het
Hectd4 T A 5: 121,442,400 (GRCm39) V1280E possibly damaging Het
Irs4 T C X: 140,508,071 (GRCm39) T42A probably damaging Het
Kdm4a C T 4: 117,999,708 (GRCm39) V905I probably damaging Het
Lmtk3 T A 7: 45,444,980 (GRCm39) probably benign Het
Lsp1 G A 7: 142,043,115 (GRCm39) R221H probably damaging Het
Marf1 C T 16: 13,960,398 (GRCm39) A549T probably damaging Het
Mmut A T 17: 41,258,057 (GRCm39) I408F probably damaging Het
Nckap1 A T 2: 80,343,073 (GRCm39) V942E probably benign Het
Neto1 T A 18: 86,491,785 (GRCm39) C229S possibly damaging Het
Nipal2 A G 15: 34,650,544 (GRCm39) I63T probably damaging Het
Or11g2 T C 14: 50,855,967 (GRCm39) I96T probably damaging Het
Or1af1 G A 2: 37,110,118 (GRCm39) V206I probably damaging Het
Or4k49 A T 2: 111,495,225 (GRCm39) Y218F probably damaging Het
Or7e165 A T 9: 19,695,235 (GRCm39) R269W probably damaging Het
Or8g36 C A 9: 39,422,810 (GRCm39) V69F possibly damaging Het
Pgpep1 T C 8: 71,103,283 (GRCm39) E120G probably benign Het
Pkhd1 A T 1: 20,187,397 (GRCm39) M3637K probably benign Het
Pkm T C 9: 59,573,164 (GRCm39) V58A probably damaging Het
Ppp2r1b C A 9: 50,772,985 (GRCm39) T154K probably damaging Het
Rgs18 T A 1: 144,631,818 (GRCm39) D98V possibly damaging Het
Rsph6a G T 7: 18,799,886 (GRCm39) A506S possibly damaging Het
Selenop T A 15: 3,305,183 (GRCm39) V113E probably damaging Het
Slc6a11 G A 6: 114,221,851 (GRCm39) V514M probably benign Het
Srsf9 C T 5: 115,470,696 (GRCm39) S132L probably damaging Het
Tchh G A 3: 93,351,088 (GRCm39) R176H possibly damaging Het
Tcp11 T C 17: 28,286,784 (GRCm39) N405S probably damaging Het
Tle1 A C 4: 72,036,584 (GRCm39) D760E probably damaging Het
Tmem178 A G 17: 81,252,488 (GRCm39) D124G possibly damaging Het
Trabd G A 15: 88,966,929 (GRCm39) E118K probably damaging Het
Ttc39a A G 4: 109,283,499 (GRCm39) D115G probably damaging Het
Uba2 A T 7: 33,861,038 (GRCm39) M5K probably damaging Het
Unc5c C T 3: 141,476,863 (GRCm39) P343L probably damaging Het
Wdhd1 T C 14: 47,501,043 (GRCm39) D453G probably damaging Het
Wfdc8 A G 2: 164,445,145 (GRCm39) Y157H probably damaging Het
Zbbx T G 3: 74,985,757 (GRCm39) K432Q probably benign Het
Zeb2 G A 2: 44,907,438 (GRCm39) T169M probably benign Het
Zfp956 A G 6: 47,932,962 (GRCm39) E79G probably damaging Het
Zzef1 G A 11: 72,708,895 (GRCm39) V165I probably benign Het
Other mutations in Uaca
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01310:Uaca APN 9 60,779,507 (GRCm39) missense probably benign
IGL01751:Uaca APN 9 60,777,139 (GRCm39) missense probably damaging 1.00
IGL02868:Uaca APN 9 60,770,919 (GRCm39) missense probably damaging 1.00
IGL02977:Uaca APN 9 60,773,662 (GRCm39) missense probably benign 0.00
IGL03037:Uaca APN 9 60,748,147 (GRCm39) missense probably damaging 1.00
IGL03060:Uaca APN 9 60,777,148 (GRCm39) missense probably damaging 1.00
IGL03083:Uaca APN 9 60,770,945 (GRCm39) missense probably benign 0.28
IGL03266:Uaca APN 9 60,770,689 (GRCm39) missense probably damaging 1.00
IGL03346:Uaca APN 9 60,761,600 (GRCm39) missense probably damaging 1.00
Ixtapa UTSW 9 60,777,695 (GRCm39) missense probably damaging 0.99
oaxaca UTSW 9 60,778,733 (GRCm39) missense probably benign
R0408:Uaca UTSW 9 60,779,141 (GRCm39) missense possibly damaging 0.71
R0567:Uaca UTSW 9 60,778,663 (GRCm39) missense probably benign 0.01
R0598:Uaca UTSW 9 60,778,203 (GRCm39) nonsense probably null
R0655:Uaca UTSW 9 60,779,311 (GRCm39) missense probably benign 0.03
R0707:Uaca UTSW 9 60,755,900 (GRCm39) splice site probably benign
R0791:Uaca UTSW 9 60,779,341 (GRCm39) missense possibly damaging 0.50
R1466:Uaca UTSW 9 60,761,603 (GRCm39) missense possibly damaging 0.88
R1466:Uaca UTSW 9 60,761,603 (GRCm39) missense possibly damaging 0.88
R1520:Uaca UTSW 9 60,778,663 (GRCm39) missense probably benign 0.30
R1673:Uaca UTSW 9 60,779,438 (GRCm39) missense probably damaging 1.00
R1894:Uaca UTSW 9 60,777,718 (GRCm39) missense possibly damaging 0.87
R1997:Uaca UTSW 9 60,777,623 (GRCm39) missense probably damaging 1.00
R2042:Uaca UTSW 9 60,777,173 (GRCm39) missense probably damaging 1.00
R2095:Uaca UTSW 9 60,748,125 (GRCm39) missense probably benign 0.00
R2148:Uaca UTSW 9 60,776,961 (GRCm39) missense probably damaging 1.00
R2384:Uaca UTSW 9 60,777,199 (GRCm39) missense probably damaging 1.00
R3110:Uaca UTSW 9 60,778,781 (GRCm39) missense probably damaging 1.00
R3112:Uaca UTSW 9 60,778,781 (GRCm39) missense probably damaging 1.00
R4001:Uaca UTSW 9 60,778,366 (GRCm39) missense probably benign 0.04
R4155:Uaca UTSW 9 60,779,035 (GRCm39) missense probably benign 0.02
R4156:Uaca UTSW 9 60,779,035 (GRCm39) missense probably benign 0.02
R4157:Uaca UTSW 9 60,779,035 (GRCm39) missense probably benign 0.02
R4410:Uaca UTSW 9 60,777,173 (GRCm39) missense probably damaging 1.00
R4674:Uaca UTSW 9 60,761,711 (GRCm39) missense possibly damaging 0.94
R4871:Uaca UTSW 9 60,753,283 (GRCm39) missense probably damaging 1.00
R5130:Uaca UTSW 9 60,787,510 (GRCm39) missense probably damaging 0.96
R5328:Uaca UTSW 9 60,777,814 (GRCm39) missense probably benign 0.44
R5358:Uaca UTSW 9 60,778,430 (GRCm39) missense probably benign
R5415:Uaca UTSW 9 60,777,421 (GRCm39) missense possibly damaging 0.65
R5437:Uaca UTSW 9 60,778,733 (GRCm39) missense probably benign
R5647:Uaca UTSW 9 60,779,380 (GRCm39) missense probably benign 0.28
R5710:Uaca UTSW 9 60,779,093 (GRCm39) missense probably damaging 1.00
R5920:Uaca UTSW 9 60,776,885 (GRCm39) missense probably benign 0.19
R5931:Uaca UTSW 9 60,779,294 (GRCm39) missense probably damaging 0.97
R5933:Uaca UTSW 9 60,748,238 (GRCm39) missense probably damaging 1.00
R5959:Uaca UTSW 9 60,778,052 (GRCm39) missense probably damaging 1.00
R6193:Uaca UTSW 9 60,777,326 (GRCm39) missense probably damaging 0.99
R6195:Uaca UTSW 9 60,777,326 (GRCm39) missense probably damaging 0.99
R6242:Uaca UTSW 9 60,777,326 (GRCm39) missense probably damaging 0.99
R6243:Uaca UTSW 9 60,777,326 (GRCm39) missense probably damaging 0.99
R6244:Uaca UTSW 9 60,777,326 (GRCm39) missense probably damaging 0.99
R6274:Uaca UTSW 9 60,757,573 (GRCm39) splice site probably null
R6670:Uaca UTSW 9 60,779,306 (GRCm39) missense probably benign 0.09
R6883:Uaca UTSW 9 60,777,173 (GRCm39) missense probably damaging 1.00
R7011:Uaca UTSW 9 60,777,650 (GRCm39) missense probably damaging 1.00
R7111:Uaca UTSW 9 60,779,120 (GRCm39) missense probably benign 0.06
R7146:Uaca UTSW 9 60,777,695 (GRCm39) missense probably damaging 0.99
R7424:Uaca UTSW 9 60,777,392 (GRCm39) missense probably damaging 1.00
R7485:Uaca UTSW 9 60,753,282 (GRCm39) missense probably damaging 1.00
R7510:Uaca UTSW 9 60,757,487 (GRCm39) splice site probably null
R7688:Uaca UTSW 9 60,781,409 (GRCm39) missense probably benign 0.11
R7724:Uaca UTSW 9 60,777,187 (GRCm39) missense probably benign 0.24
R7743:Uaca UTSW 9 60,783,677 (GRCm39) missense probably damaging 0.99
R8556:Uaca UTSW 9 60,777,923 (GRCm39) missense probably damaging 0.97
R8699:Uaca UTSW 9 60,778,347 (GRCm39) missense probably damaging 1.00
R8814:Uaca UTSW 9 60,773,680 (GRCm39) missense possibly damaging 0.82
R8828:Uaca UTSW 9 60,778,852 (GRCm39) missense probably benign 0.00
R9475:Uaca UTSW 9 60,779,498 (GRCm39) missense possibly damaging 0.88
R9477:Uaca UTSW 9 60,778,108 (GRCm39) missense probably benign 0.33
R9509:Uaca UTSW 9 60,779,498 (GRCm39) missense possibly damaging 0.88
X0067:Uaca UTSW 9 60,766,431 (GRCm39) missense possibly damaging 0.69
Z1177:Uaca UTSW 9 60,781,405 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGACTCTGAGTAGCCAGTATGTGCC -3'
(R):5'- GCGTACTTCAGCTTGATGCACTCC -3'

Sequencing Primer
(F):5'- AGTATGTGCCTGCCAAGAC -3'
(R):5'- AGCTTGATGCACTCCTGGATG -3'
Posted On 2013-07-11