Incidental Mutation 'R5647:Uaca'
ID 441225
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 043295-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.173) question?
Stock # R5647 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 60701824-60787652 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 60779380 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 1256 (R1256G)
Ref Sequence ENSEMBL: ENSMUSP00000062047 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050183] [ENSMUST00000214354]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000050183
AA Change: R1256G

PolyPhen 2 Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000062047
Gene: ENSMUSG00000034485
AA Change: R1256G

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: R1254G

PolyPhen 2 Score 0.234 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214997
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216574
Predicted Effect unknown
Transcript: ENSMUST00000217656
AA Change: R1078G
Meta Mutation Damage Score 0.0765 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 95% (55/58)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010L04Rik T C 7: 82,505,606 (GRCm39) noncoding transcript Het
9330159F19Rik A T 10: 29,101,250 (GRCm39) D541V probably damaging Het
Abcc5 T C 16: 20,218,597 (GRCm39) I262V probably damaging Het
Acvr1c T A 2: 58,185,976 (GRCm39) D169V probably damaging Het
Aldh16a1 A G 7: 44,803,889 (GRCm39) V6A probably benign Het
Brd10 A G 19: 29,731,210 (GRCm39) S601P possibly damaging Het
Cd36 A C 5: 18,019,763 (GRCm39) S113A probably damaging Het
Cdt1 G T 8: 123,296,947 (GRCm39) R247L possibly damaging Het
Ces4a G A 8: 105,872,712 (GRCm39) V322M probably benign Het
Cngb3 A T 4: 19,364,266 (GRCm39) T157S possibly damaging Het
Cpped1 T C 16: 11,646,010 (GRCm39) probably benign Het
Ctr9 G T 7: 110,654,751 (GRCm39) R1094L unknown Het
Cyld A T 8: 89,461,554 (GRCm39) I664L probably benign Het
Dvl2 C T 11: 69,900,275 (GRCm39) P690S possibly damaging Het
Fbxo7 A C 10: 85,864,974 (GRCm39) E94D probably damaging Het
Fstl5 A C 3: 76,496,399 (GRCm39) K387N probably damaging Het
Gm9845 A C 3: 39,412,520 (GRCm39) noncoding transcript Het
Hk1 T C 10: 62,111,523 (GRCm39) D746G probably damaging Het
Lmbr1 A G 5: 29,468,391 (GRCm39) probably null Het
Lrp2 C T 2: 69,350,258 (GRCm39) A705T probably null Het
Lrrc37 T C 11: 103,508,300 (GRCm39) probably benign Het
Mybpc3 A G 2: 90,952,067 (GRCm39) probably null Het
Myo15b T A 11: 115,762,337 (GRCm39) L1219Q probably damaging Het
Naa35 G A 13: 59,770,680 (GRCm39) probably benign Het
Or4g16 G T 2: 111,137,392 (GRCm39) A281S possibly damaging Het
Or5b111 A T 19: 13,291,553 (GRCm39) I32N probably damaging Het
Or5b113 T C 19: 13,342,541 (GRCm39) V183A probably damaging Het
Pcdhb18 G A 18: 37,623,537 (GRCm39) R289Q probably benign Het
Pcnt T C 10: 76,221,675 (GRCm39) T1984A probably benign Het
Plcg1 T C 2: 160,593,588 (GRCm39) L251P probably benign Het
Plin1 T A 7: 79,371,320 (GRCm39) D468V probably benign Het
Pmp2 A G 3: 10,248,845 (GRCm39) V12A probably benign Het
Rnf19a T A 15: 36,266,109 (GRCm39) probably benign Het
Rnf214 G A 9: 45,779,344 (GRCm39) Q469* probably null Het
Rrp1b T G 17: 32,274,985 (GRCm39) probably benign Het
Rtl1 C T 12: 109,561,113 (GRCm39) R242Q unknown Het
Sema3e A T 5: 14,275,567 (GRCm39) E224V probably damaging Het
Sphkap A G 1: 83,385,720 (GRCm39) S5P probably damaging Het
Stab1 A C 14: 30,879,397 (GRCm39) Y694* probably null Het
Stambpl1 T C 19: 34,211,686 (GRCm39) L249P probably benign Het
Thap4 A T 1: 93,642,665 (GRCm39) H515Q probably damaging Het
Ticam1 TCACACA TCACA 17: 56,577,629 (GRCm39) probably null Het
Usp17lb T A 7: 104,489,881 (GRCm39) N348Y possibly damaging Het
Vmn1r42 A G 6: 89,822,314 (GRCm39) I85T probably benign Het
Vps9d1 A T 8: 123,975,598 (GRCm39) L149Q probably damaging Het
Zdhhc17 A T 10: 110,809,694 (GRCm39) I153N probably damaging Het
Zfp207 G A 11: 80,283,959 (GRCm39) S293N possibly damaging Het
Zfp346 A G 13: 55,270,170 (GRCm39) D198G probably damaging Het
Zfp953 A T 13: 67,491,536 (GRCm39) C139S possibly damaging 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
R0603:Uaca UTSW 9 60,778,379 (GRCm39) missense possibly damaging 0.60
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
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'- TGGGATCATGAAAGCCAGCC -3'
(R):5'- GGGCCTACCTTATTGTCCTTGG -3'

Sequencing Primer
(F):5'- TCATGAAAGCCAGCCTGAGAG -3'
(R):5'- CCTTGGCTTCGATCTGCTTGG -3'
Posted On 2016-11-08