Incidental Mutation 'R3716:Ubac1'
ID 259890
Institutional Source Beutler Lab
Gene Symbol Ubac1
Ensembl Gene ENSMUSG00000036352
Gene Name ubiquitin associated domain containing 1
Synonyms Kpc2, 1110033G07Rik, Ubadc1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.208) question?
Stock # R3716 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 25888555-25911759 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 25904953 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 95 (R95H)
Ref Sequence ENSEMBL: ENSMUSP00000040220 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036509]
AlphaFold Q8VDI7
Predicted Effect probably damaging
Transcript: ENSMUST00000036509
AA Change: R95H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040220
Gene: ENSMUSG00000036352
AA Change: R95H

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: ENSMUST00000134990
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: R14H
SMART Domains Protein: ENSMUSP00000117683
Gene: ENSMUSG00000036352
AA Change: R14H

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: ENSMUST00000146898
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148725
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150608
Meta Mutation Damage Score 0.1738 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik2 A T 11: 48,910,363 (GRCm39) L690H probably damaging Het
Abtb3 C T 10: 85,397,392 (GRCm39) H442Y probably damaging Het
Acaa1b A G 9: 118,985,709 (GRCm39) V72A probably benign Het
Actl7a T C 4: 56,744,295 (GRCm39) L274P possibly damaging Het
Ankrd50 T C 3: 38,508,299 (GRCm39) E433G probably damaging Het
Ano6 A G 15: 95,811,260 (GRCm39) D120G probably damaging Het
Bbs10 A G 10: 111,136,995 (GRCm39) K703E probably benign Het
Canx A G 11: 50,195,301 (GRCm39) S256P probably benign Het
Caps2 A G 10: 112,036,637 (GRCm39) H399R probably benign Het
Col6a6 A C 9: 105,659,373 (GRCm39) L524R probably damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dglucy A T 12: 100,816,375 (GRCm39) N339I probably damaging Het
Dhrs4 G T 14: 55,716,362 (GRCm39) M1I probably null Het
Disp1 A T 1: 182,869,315 (GRCm39) L1035Q probably damaging Het
Ephb1 T C 9: 102,071,999 (GRCm39) E260G probably damaging Het
Fetub T A 16: 22,754,443 (GRCm39) C217S probably damaging Het
Firrm T C 1: 163,784,457 (GRCm39) I779M probably damaging Het
Frem2 T C 3: 53,479,781 (GRCm39) S1971G probably damaging Het
Gria2 A G 3: 80,648,311 (GRCm39) Y142H possibly damaging Het
Hivep1 C T 13: 42,311,971 (GRCm39) H1404Y probably damaging Het
Il21r A G 7: 125,231,441 (GRCm39) K290E probably damaging Het
Inpp5f C G 7: 128,292,394 (GRCm39) L17V probably damaging Het
Kcnh3 A G 15: 99,130,646 (GRCm39) N421S possibly damaging Het
Krt33a A C 11: 99,904,991 (GRCm39) C172G probably benign Het
Lrp6 A T 6: 134,484,410 (GRCm39) H404Q probably damaging Het
Macf1 T C 4: 123,367,295 (GRCm39) T924A probably benign Het
Mepe C A 5: 104,485,294 (GRCm39) H145N probably benign Het
Mesp2 T G 7: 79,462,542 (GRCm39) L366R possibly damaging Het
Mink1 T A 11: 70,498,587 (GRCm39) L584Q probably damaging Het
Mms19 A G 19: 41,933,174 (GRCm39) V997A probably damaging Het
Mroh7 T C 4: 106,561,407 (GRCm39) E612G probably benign Het
Myo15b G T 11: 115,754,239 (GRCm39) C913F probably benign Het
Nav1 A T 1: 135,378,368 (GRCm39) I1653K probably damaging Het
Neb T C 2: 52,167,482 (GRCm39) E1948G probably damaging Het
Nelfcd T C 2: 174,264,798 (GRCm39) V179A possibly damaging Het
Obscn C T 11: 58,973,487 (GRCm39) C2157Y probably damaging Het
Or8i2 A T 2: 86,852,707 (GRCm39) Y60* probably null Het
Orc1 C T 4: 108,471,656 (GRCm39) A836V probably damaging Het
Pcdhb6 G T 18: 37,469,259 (GRCm39) V43L probably benign Het
Prkcd G T 14: 30,321,669 (GRCm39) D393E probably benign Het
Rb1cc1 G C 1: 6,340,914 (GRCm39) probably null Het
Rp1 T A 1: 4,419,988 (GRCm39) T375S probably benign Het
Slc9c1 A T 16: 45,400,582 (GRCm39) M731L probably benign Het
Sox21 A T 14: 118,472,842 (GRCm39) M69K probably benign Het
Spata18 A T 5: 73,824,193 (GRCm39) probably null Het
Taok1 A G 11: 77,432,636 (GRCm39) F726L probably benign Het
Ttn G A 2: 76,575,558 (GRCm39) P25112S probably damaging Het
Usp32 A G 11: 84,933,389 (GRCm39) Y40H probably damaging Het
Usp37 A T 1: 74,532,145 (GRCm39) S83T possibly damaging Het
Vps13d A G 4: 144,802,296 (GRCm39) I405T probably damaging 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
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
R6742:Ubac1 UTSW 2 25,895,418 (GRCm39) missense possibly damaging 0.89
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'- GATGAAGGGCCCCTTATACC -3'
(R):5'- GGAAGTCTGGGGTTGACATC -3'

Sequencing Primer
(F):5'- GGCCCCTTATACCACACATCCTG -3'
(R):5'- GAGGCAGAGTCTCTTGTTAAACCC -3'
Posted On 2015-01-23