Incidental Mutation 'R6742:Ubac1'
ID 530473
Institutional Source Beutler Lab
Gene Symbol Ubac1
Ensembl Gene ENSMUSG00000036352
Gene Name ubiquitin associated domain containing 1
Synonyms Kpc2, 1110033G07Rik, Ubadc1
MMRRC Submission 044859-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.208) question?
Stock # R6742 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 25888555-25911759 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25895418 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 345 (D345G)
Ref Sequence ENSEMBL: ENSMUSP00000040220 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036509]
AlphaFold Q8VDI7
Predicted Effect possibly damaging
Transcript: ENSMUST00000036509
AA Change: D345G

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000040220
Gene: ENSMUSG00000036352
AA Change: D345G

DomainStartEndE-ValueType
Blast:UBQ 14 94 2e-38 BLAST
low complexity region 108 123 N/A INTRINSIC
UBA 193 230 2e-5 SMART
low complexity region 245 269 N/A INTRINSIC
low complexity region 280 292 N/A INTRINSIC
UBA 294 331 5.92e-8 SMART
STI1 357 396 1.85e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123275
Predicted Effect probably benign
Transcript: ENSMUST00000136750
SMART Domains Protein: ENSMUSP00000123115
Gene: ENSMUSG00000036352

DomainStartEndE-ValueType
internal_repeat_1 10 37 4.39e-5 PROSPERO
UBA 128 165 2e-5 SMART
low complexity region 180 204 N/A INTRINSIC
low complexity region 215 227 N/A INTRINSIC
UBA 229 258 5.2e-1 SMART
Predicted Effect unknown
Transcript: ENSMUST00000146363
AA Change: D183G
SMART Domains Protein: ENSMUSP00000117683
Gene: ENSMUSG00000036352
AA Change: D183G

DomainStartEndE-ValueType
low complexity region 28 43 N/A INTRINSIC
low complexity region 119 131 N/A INTRINSIC
UBA 133 170 5.92e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148725
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154336
Meta Mutation Damage Score 0.8166 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.6%
Validation Efficiency 100% (46/46)
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,654,995 (GRCm39) R1440G probably benign Het
Abca13 T A 11: 9,278,168 (GRCm39) L3116Q probably damaging Het
Adgb G A 10: 10,287,593 (GRCm39) H55Y probably damaging Het
AI182371 G T 2: 34,974,717 (GRCm39) probably benign Het
Ank3 T C 10: 69,827,412 (GRCm39) probably benign Het
Ccdc127 G T 13: 74,501,042 (GRCm39) G20W probably damaging Het
Ccdc149 G A 5: 52,562,475 (GRCm39) Q184* probably null Het
Cntrob G A 11: 69,213,749 (GRCm39) P14S probably damaging Het
Dnah11 T C 12: 118,077,629 (GRCm39) E1288G possibly damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Evpl T C 11: 116,113,640 (GRCm39) D1350G possibly damaging Het
Fasn T C 11: 120,701,279 (GRCm39) T1990A probably damaging Het
Itga2 T A 13: 114,973,061 (GRCm39) N1166I possibly damaging Het
Lmtk2 T A 5: 144,085,175 (GRCm39) C216S probably damaging Het
Lrp1b T C 2: 41,361,132 (GRCm39) D557G probably benign Het
Lrrc32 T C 7: 98,148,039 (GRCm39) V273A probably benign Het
Nlrp4f C T 13: 65,335,254 (GRCm39) probably null Het
Ntng2 T G 2: 29,090,940 (GRCm39) M360L probably benign Het
Pik3c2b A G 1: 133,003,559 (GRCm39) S504G probably benign Het
Ppfia4 A C 1: 134,256,909 (GRCm39) L104R probably damaging Het
Raph1 A G 1: 60,564,879 (GRCm39) S203P probably damaging Het
Rbl1 G A 2: 157,011,918 (GRCm39) T679I probably benign Het
Rnase4 G T 14: 51,342,486 (GRCm39) R70L probably benign Het
Rnf146 A C 10: 29,223,528 (GRCm39) D119E probably damaging Het
Rrp1b A G 17: 32,275,908 (GRCm39) H485R probably benign Het
Rwdd4a T A 8: 48,000,998 (GRCm39) probably null Het
Scarf2 G A 16: 17,624,351 (GRCm39) C552Y probably damaging Het
Skic2 G A 17: 35,064,166 (GRCm39) R507* probably null Het
Sox10 T C 15: 79,040,676 (GRCm39) N127S probably damaging Het
Speer4a1 A T 5: 26,241,054 (GRCm39) probably null Het
Tars1 A T 15: 11,394,427 (GRCm39) I70N probably damaging Het
Thsd7a C T 6: 12,408,815 (GRCm39) V736M probably damaging Het
Timp3 G A 10: 86,136,742 (GRCm39) V9M probably benign Het
Tnfrsf1a A T 6: 125,333,911 (GRCm39) N55Y probably damaging Het
Trim43a G A 9: 88,470,399 (GRCm39) V402I possibly damaging Het
Tshz2 A G 2: 169,725,677 (GRCm39) D91G probably damaging Het
Usp4 G A 9: 108,251,438 (GRCm39) V538I possibly damaging Het
Vmn2r19 A T 6: 123,306,917 (GRCm39) Y475F possibly damaging Het
Vmn2r87 A T 10: 130,308,396 (GRCm39) V614E probably damaging Het
Wfdc2 A T 2: 164,404,706 (GRCm39) T21S probably benign Het
Yod1 G A 1: 130,645,275 (GRCm39) G19S probably damaging Het
Zfp78 A G 7: 6,381,277 (GRCm39) E109G probably damaging Het
Zfp873 C A 10: 81,894,256 (GRCm39) A19D probably damaging Het
Zfp935 T A 13: 62,602,293 (GRCm39) K302N probably damaging Het
Zfpm2 G A 15: 40,965,114 (GRCm39) S401N probably benign Het
Other mutations in Ubac1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01142:Ubac1 APN 2 25,896,580 (GRCm39) missense probably damaging 1.00
PIT4403001:Ubac1 UTSW 2 25,896,609 (GRCm39) missense probably benign 0.16
R0029:Ubac1 UTSW 2 25,911,455 (GRCm39) missense probably benign 0.15
R0121:Ubac1 UTSW 2 25,898,871 (GRCm39) critical splice donor site probably null
R0178:Ubac1 UTSW 2 25,911,440 (GRCm39) missense possibly damaging 0.87
R1839:Ubac1 UTSW 2 25,897,750 (GRCm39) missense possibly damaging 0.70
R1891:Ubac1 UTSW 2 25,904,974 (GRCm39) missense probably benign 0.10
R3716:Ubac1 UTSW 2 25,904,953 (GRCm39) missense probably damaging 1.00
R3717:Ubac1 UTSW 2 25,904,953 (GRCm39) missense probably damaging 1.00
R3718:Ubac1 UTSW 2 25,904,953 (GRCm39) missense probably damaging 1.00
R4602:Ubac1 UTSW 2 25,888,989 (GRCm39) missense probably damaging 1.00
R7134:Ubac1 UTSW 2 25,904,974 (GRCm39) missense probably benign 0.10
R8056:Ubac1 UTSW 2 25,897,909 (GRCm39) missense probably benign 0.06
R8922:Ubac1 UTSW 2 25,896,621 (GRCm39) missense probably damaging 1.00
R9469:Ubac1 UTSW 2 25,897,763 (GRCm39) missense probably damaging 1.00
RF022:Ubac1 UTSW 2 25,895,470 (GRCm39) missense probably damaging 1.00
Z1177:Ubac1 UTSW 2 25,911,565 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- GCCTTGCATAAGCCAACCTG -3'
(R):5'- GGTTTGTACATGTTAGGGCCCC -3'

Sequencing Primer
(F):5'- TGGCACAGTATTAGTGCCC -3'
(R):5'- GTACATGTTAGGGCCCCTTCCAG -3'
Posted On 2018-08-01