Incidental Mutation 'IGL01310:Uaca'
ID73659
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Uaca
Ensembl Gene ENSMUSG00000034485
Gene Nameuveal autoantigen with coiled-coil domains and ankyrin repeats
Synonyms2700059D02Rik, nucling
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.146) question?
Stock #IGL01310
Quality Score
Status
Chromosome9
Chromosomal Location60794542-60880370 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 60872225 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Threonine at position 1296 (M1296T)
Ref Sequence ENSEMBL: ENSMUSP00000151172 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050183] [ENSMUST00000214354]
Predicted Effect probably benign
Transcript: ENSMUST00000050183
AA Change: M1298T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000062047
Gene: ENSMUSG00000034485
AA Change: M1298T

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 probably benign
Transcript: ENSMUST00000214354
AA Change: M1296T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214997
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216574
Predicted Effect unknown
Transcript: ENSMUST00000217656
AA Change: M1120T
Coding Region Coverage
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921507P07Rik C A 6: 50,574,195 V425L probably benign Het
4930431F12Rik A T 5: 44,967,814 noncoding transcript Het
Abca12 A T 1: 71,284,156 I1589N probably benign Het
Abca8a T G 11: 110,059,975 D888A probably benign Het
Adam5 C T 8: 24,742,134 probably benign Het
Amer1 A T X: 95,427,110 N467K probably benign Het
Atp6v0a2 A G 5: 124,646,028 D272G probably damaging Het
Cacna1b A T 2: 24,685,782 N751K probably damaging Het
Cfi T A 3: 129,858,431 N250K probably damaging Het
Cndp2 G T 18: 84,670,877 P260Q possibly damaging Het
Cnnm3 A G 1: 36,512,875 D322G probably benign Het
Crybg1 A G 10: 44,003,600 S531P probably damaging Het
Crybg1 A T 10: 43,975,058 S1606T possibly damaging Het
Espnl A T 1: 91,340,611 K320* probably null Het
Glt1d1 A G 5: 127,632,320 T13A possibly damaging Het
Gpam C T 19: 55,078,332 A584T possibly damaging Het
Gpr19 A G 6: 134,869,742 I289T probably damaging Het
Grm8 T C 6: 27,363,801 I572V probably damaging Het
Gtpbp4 A T 13: 8,977,272 N502K probably benign Het
Herpud2 T C 9: 25,150,951 M6V probably benign Het
Igdcc3 T C 9: 65,178,442 V263A probably damaging Het
Il33 G A 19: 29,952,756 A65T probably benign Het
Itga9 T A 9: 118,769,159 M1K probably null Het
Izumo3 T C 4: 92,146,980 probably benign Het
Kdr G A 5: 75,949,601 P909S probably damaging Het
Kirrel C T 3: 87,089,875 E262K probably benign Het
Krt25 T A 11: 99,318,170 Q278L probably benign Het
Lgi2 G T 5: 52,554,465 P195Q probably benign Het
Lpcat3 T C 6: 124,699,338 F120S possibly damaging Het
Nalcn C T 14: 123,317,249 R910Q probably benign Het
Nrxn1 A G 17: 90,059,474 probably null Het
Nuf2 A T 1: 169,498,862 V440E probably benign Het
Olfr1130 T A 2: 87,607,508 I40N possibly damaging Het
Olfr1306 C T 2: 111,912,307 V208M probably benign Het
Olfr615 C T 7: 103,560,801 S108F probably benign Het
Olfr775 T C 10: 129,250,996 I154T possibly damaging Het
Pfpl A G 19: 12,428,610 D75G probably damaging Het
Pgm5 A G 19: 24,834,766 V134A possibly damaging Het
Prkch A G 12: 73,759,013 I521V possibly damaging Het
Rps6kc1 T A 1: 190,783,625 E968V probably benign Het
Slc25a30 T C 14: 75,769,597 Y153C probably damaging Het
Smtnl2 T A 11: 72,401,345 probably null Het
Tbc1d14 T A 5: 36,543,200 K275* probably null Het
Tnc T C 4: 64,013,077 T799A probably benign Het
Trdn A T 10: 33,305,098 probably benign Het
Ttn T C 2: 76,876,535 probably benign Het
Ubash3a A C 17: 31,215,142 I154L probably benign Het
Vmn2r4 T A 3: 64,409,779 probably null Het
Xpc T C 6: 91,490,107 K915E probably benign Het
Zfp318 T C 17: 46,413,227 I2052T possibly damaging Het
Other mutations in Uaca
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01751:Uaca APN 9 60869857 missense probably damaging 1.00
IGL02868:Uaca APN 9 60863637 missense probably damaging 1.00
IGL02977:Uaca APN 9 60866380 missense probably benign 0.00
IGL03037:Uaca APN 9 60840865 missense probably damaging 1.00
IGL03060:Uaca APN 9 60869866 missense probably damaging 1.00
IGL03083:Uaca APN 9 60863663 missense probably benign 0.28
IGL03266:Uaca APN 9 60863407 missense probably damaging 1.00
IGL03346:Uaca APN 9 60854318 missense probably damaging 1.00
R0408:Uaca UTSW 9 60871859 missense possibly damaging 0.71
R0567:Uaca UTSW 9 60871381 missense probably benign 0.01
R0598:Uaca UTSW 9 60870921 nonsense probably null
R0603:Uaca UTSW 9 60871097 missense possibly damaging 0.60
R0655:Uaca UTSW 9 60872029 missense probably benign 0.03
R0707:Uaca UTSW 9 60848618 splice site probably benign
R0791:Uaca UTSW 9 60872059 missense possibly damaging 0.50
R1466:Uaca UTSW 9 60854321 missense possibly damaging 0.88
R1466:Uaca UTSW 9 60854321 missense possibly damaging 0.88
R1520:Uaca UTSW 9 60871381 missense probably benign 0.30
R1673:Uaca UTSW 9 60872156 missense probably damaging 1.00
R1894:Uaca UTSW 9 60870436 missense possibly damaging 0.87
R1997:Uaca UTSW 9 60870341 missense probably damaging 1.00
R2042:Uaca UTSW 9 60869891 missense probably damaging 1.00
R2095:Uaca UTSW 9 60840843 missense probably benign 0.00
R2148:Uaca UTSW 9 60869679 missense probably damaging 1.00
R2384:Uaca UTSW 9 60869917 missense probably damaging 1.00
R3110:Uaca UTSW 9 60871499 missense probably damaging 1.00
R3112:Uaca UTSW 9 60871499 missense probably damaging 1.00
R4001:Uaca UTSW 9 60871084 missense probably benign 0.04
R4155:Uaca UTSW 9 60871753 missense probably benign 0.02
R4156:Uaca UTSW 9 60871753 missense probably benign 0.02
R4157:Uaca UTSW 9 60871753 missense probably benign 0.02
R4410:Uaca UTSW 9 60869891 missense probably damaging 1.00
R4674:Uaca UTSW 9 60854429 missense possibly damaging 0.94
R4871:Uaca UTSW 9 60846001 missense probably damaging 1.00
R5130:Uaca UTSW 9 60880228 missense probably damaging 0.96
R5328:Uaca UTSW 9 60870532 missense probably benign 0.44
R5358:Uaca UTSW 9 60871148 missense probably benign
R5415:Uaca UTSW 9 60870139 missense possibly damaging 0.65
R5437:Uaca UTSW 9 60871451 missense probably benign
R5647:Uaca UTSW 9 60872098 missense probably benign 0.28
R5710:Uaca UTSW 9 60871811 missense probably damaging 1.00
R5920:Uaca UTSW 9 60869603 missense probably benign 0.19
R5931:Uaca UTSW 9 60872012 missense probably damaging 0.97
R5933:Uaca UTSW 9 60840956 missense probably damaging 1.00
R5959:Uaca UTSW 9 60870770 missense probably damaging 1.00
R6193:Uaca UTSW 9 60870044 missense probably damaging 0.99
R6195:Uaca UTSW 9 60870044 missense probably damaging 0.99
R6242:Uaca UTSW 9 60870044 missense probably damaging 0.99
R6243:Uaca UTSW 9 60870044 missense probably damaging 0.99
R6244:Uaca UTSW 9 60870044 missense probably damaging 0.99
R6274:Uaca UTSW 9 60850291 splice site probably null
R6670:Uaca UTSW 9 60872024 missense probably benign 0.09
R6883:Uaca UTSW 9 60869891 missense probably damaging 1.00
R7011:Uaca UTSW 9 60870368 missense probably damaging 1.00
R7111:Uaca UTSW 9 60871838 missense probably benign 0.06
R7146:Uaca UTSW 9 60870413 missense probably damaging 0.99
X0067:Uaca UTSW 9 60859149 missense possibly damaging 0.69
Posted On2013-10-07