Incidental Mutation 'R4738:Ubqlnl'
ID 359430
Institutional Source Beutler Lab
Gene Symbol Ubqlnl
Ensembl Gene ENSMUSG00000051437
Gene Name ubiquilin-like
Synonyms 4922504M18Rik, LOC244179
MMRRC Submission 041964-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # R4738 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 103797466-103799763 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 103798925 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 191 (V191M)
Ref Sequence ENSEMBL: ENSMUSP00000056365 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051137] [ENSMUST00000059121] [ENSMUST00000154555]
AlphaFold Q14DL0
PDB Structure Solution Structure of RSGI RUH-056, a UBA domain from mouse cDNA [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000051137
SMART Domains Protein: ENSMUSP00000052174
Gene: ENSMUSG00000044265

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
coiled coil region 47 85 N/A INTRINSIC
coiled coil region 157 198 N/A INTRINSIC
OLF 211 468 3.13e-70 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000059121
AA Change: V191M

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000056365
Gene: ENSMUSG00000051437
AA Change: V191M

DomainStartEndE-ValueType
UBQ 31 101 5.13e-16 SMART
Blast:STI1 199 237 8e-11 BLAST
low complexity region 339 350 N/A INTRINSIC
low complexity region 402 419 N/A INTRINSIC
PDB:2DNA|A 561 610 3e-26 PDB
Blast:UBA 568 604 1e-10 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000154555
SMART Domains Protein: ENSMUSP00000117893
Gene: ENSMUSG00000044265

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
coiled coil region 47 123 N/A INTRINSIC
OLF 136 304 3.65e-10 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele are viable and overtly normal in terms of growth and behavior. Adult males are fertile and show no apparent defects in spermatogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 A G 5: 105,121,849 (GRCm39) I176T probably benign Het
Abtb3 C T 10: 85,463,112 (GRCm39) Q626* probably null Het
Angpt2 C T 8: 18,791,075 (GRCm39) D74N probably benign Het
Apol10a C T 15: 77,372,841 (GRCm39) T159I possibly damaging Het
Areg T C 5: 91,294,583 (GRCm39) I247T possibly damaging Het
Atg16l2 A G 7: 100,946,385 (GRCm39) L129P probably damaging Het
Atp6v1b2 T A 8: 69,556,062 (GRCm39) S246T probably benign Het
Atp8b1 T C 18: 64,678,251 (GRCm39) R882G probably benign Het
Atp9a A G 2: 168,510,101 (GRCm39) V444A probably benign Het
Babam2 T A 5: 32,058,486 (GRCm39) Y211N probably damaging Het
Ccdc127 T G 13: 74,505,187 (GRCm39) probably benign Het
Cep192 A T 18: 68,017,901 (GRCm39) K2500* probably null Het
Cnot4 T C 6: 35,028,311 (GRCm39) N435S probably benign Het
Col12a1 T C 9: 79,606,564 (GRCm39) I620V probably damaging Het
Cyth4 G A 15: 78,490,074 (GRCm39) M62I probably benign Het
Dbt T C 3: 116,332,781 (GRCm39) I200T probably damaging Het
Dchs1 C T 7: 105,407,880 (GRCm39) R1984Q probably damaging Het
Depdc5 A G 5: 33,132,666 (GRCm39) M1237V probably benign Het
Disp2 A G 2: 118,620,807 (GRCm39) Y513C probably damaging Het
Dph7 T C 2: 24,853,143 (GRCm39) S86P possibly damaging Het
Eif3b T A 5: 140,415,833 (GRCm39) M384K probably benign Het
Emc1 G T 4: 139,089,513 (GRCm39) G227V possibly damaging Het
Eri2 A G 7: 119,386,955 (GRCm39) probably null Het
Frzb A G 2: 80,254,941 (GRCm39) probably null Het
Ganc T A 2: 120,283,075 (GRCm39) V743D probably damaging Het
Gfpt1 C A 6: 87,031,729 (GRCm39) probably benign Het
Gm3086 A T 12: 70,016,155 (GRCm39) probably benign Het
Gsdmc2 A T 15: 63,698,650 (GRCm39) Y315* probably null Het
Haus6 A G 4: 86,518,986 (GRCm39) probably null Het
Hhip C T 8: 80,719,199 (GRCm39) D443N probably damaging Het
Isg15 T C 4: 156,284,319 (GRCm39) M70V probably benign Het
Kank2 T C 9: 21,685,915 (GRCm39) N653S probably damaging Het
Klhdc1 G T 12: 69,329,907 (GRCm39) R345S probably benign Het
Larp7 A G 3: 127,339,694 (GRCm39) probably null Het
Lgals12 A G 19: 7,581,464 (GRCm39) V81A probably benign Het
Lhx9 A G 1: 138,760,486 (GRCm39) L288P probably damaging Het
Mcpt9 T A 14: 56,264,456 (GRCm39) H213L probably damaging Het
Met T C 6: 17,491,540 (GRCm39) C101R probably damaging Het
Myo16 G T 8: 10,423,527 (GRCm39) G288W probably damaging Het
Neb A C 2: 52,077,494 (GRCm39) S1846A probably damaging Het
Nr3c2 T C 8: 77,635,936 (GRCm39) S346P possibly damaging Het
Obi1 C T 14: 104,747,819 (GRCm39) D43N probably damaging Het
Or10h5 A G 17: 33,434,784 (GRCm39) F178S probably benign Het
Or1e1c G T 11: 73,266,176 (GRCm39) L200F possibly damaging Het
Or51e1 T A 7: 102,359,378 (GRCm39) I304N probably damaging Het
Or5h19 T C 16: 58,856,558 (GRCm39) I181V probably benign Het
Or5p63 A T 7: 107,811,201 (GRCm39) N178K probably damaging Het
Osbpl10 A G 9: 115,045,642 (GRCm39) E426G probably damaging Het
Ovgp1 T C 3: 105,887,234 (GRCm39) V210A probably damaging Het
Pam A T 1: 97,850,857 (GRCm39) V167D probably damaging Het
Pappa2 T C 1: 158,784,582 (GRCm39) R143G probably benign Het
Pbx4 C T 8: 70,317,619 (GRCm39) T201M probably damaging Het
Pcdhb9 T C 18: 37,536,468 (GRCm39) C821R probably benign Het
Plekhg3 T C 12: 76,623,688 (GRCm39) I976T probably damaging Het
Pold1 G A 7: 44,190,753 (GRCm39) R304C probably damaging Het
Prss38 T C 11: 59,263,771 (GRCm39) T314A probably benign Het
Psph T C 5: 129,846,450 (GRCm39) probably null Het
Ptprj G A 2: 90,270,987 (GRCm39) P1247L probably damaging Het
Rab3gap1 A G 1: 127,862,173 (GRCm39) E648G probably damaging Het
Ralgds A G 2: 28,435,428 (GRCm39) E465G probably damaging Het
Rfng T C 11: 120,674,790 (GRCm39) T67A probably damaging Het
Rps6kl1 G T 12: 85,187,161 (GRCm39) F181L probably benign Het
Spata46 G A 1: 170,139,455 (GRCm39) M151I possibly damaging Het
Ssbp1 T A 6: 40,454,914 (GRCm39) N124K probably damaging Het
Sspo C T 6: 48,455,330 (GRCm39) A3064V possibly damaging Het
Tbc1d8 G A 1: 39,441,959 (GRCm39) T211I possibly damaging Het
Tdpoz4 T C 3: 93,704,396 (GRCm39) I231T probably damaging Het
Tff3 G A 17: 31,346,483 (GRCm39) P30S probably benign Het
Thg1l C T 11: 45,845,018 (GRCm39) R18Q probably damaging Het
Tlk2 T A 11: 105,147,708 (GRCm39) H369Q probably benign Het
Tnfaip8 A G 18: 50,223,569 (GRCm39) T14A probably damaging Het
Tspan17 T A 13: 54,942,877 (GRCm39) C116* probably null Het
Ttn T C 2: 76,710,890 (GRCm39) probably benign Het
Tyr T C 7: 87,141,855 (GRCm39) Y158C probably null Het
U2af1l4 G T 7: 30,262,773 (GRCm39) probably benign Het
Vmn2r86 T A 10: 130,282,939 (GRCm39) D559V probably damaging Het
Wfikkn2 T A 11: 94,129,902 (GRCm39) T80S probably benign Het
Zdhhc2 T A 8: 40,917,183 (GRCm39) probably null Het
Zfp521 T C 18: 13,977,111 (GRCm39) K1101E possibly damaging Het
Zfp595 A T 13: 67,465,229 (GRCm39) F345I probably benign Het
Zswim2 T A 2: 83,745,739 (GRCm39) R566S probably benign Het
Other mutations in Ubqlnl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00158:Ubqlnl APN 7 103,798,372 (GRCm39) missense probably benign
IGL01592:Ubqlnl APN 7 103,799,496 (GRCm39) unclassified probably benign
IGL01972:Ubqlnl APN 7 103,798,904 (GRCm39) missense probably benign 0.00
IGL02266:Ubqlnl APN 7 103,798,754 (GRCm39) nonsense probably null
IGL02447:Ubqlnl APN 7 103,797,856 (GRCm39) missense probably damaging 1.00
IGL03232:Ubqlnl APN 7 103,797,836 (GRCm39) missense possibly damaging 0.71
FR4737:Ubqlnl UTSW 7 103,799,042 (GRCm39) unclassified probably benign
R0066:Ubqlnl UTSW 7 103,798,145 (GRCm39) missense probably damaging 0.98
R0066:Ubqlnl UTSW 7 103,798,145 (GRCm39) missense probably damaging 0.98
R0077:Ubqlnl UTSW 7 103,799,254 (GRCm39) missense probably damaging 1.00
R0109:Ubqlnl UTSW 7 103,799,399 (GRCm39) missense probably damaging 1.00
R0109:Ubqlnl UTSW 7 103,799,399 (GRCm39) missense probably damaging 1.00
R0517:Ubqlnl UTSW 7 103,797,845 (GRCm39) missense probably damaging 1.00
R1129:Ubqlnl UTSW 7 103,798,857 (GRCm39) missense probably damaging 0.98
R1885:Ubqlnl UTSW 7 103,799,272 (GRCm39) missense possibly damaging 0.88
R1987:Ubqlnl UTSW 7 103,797,692 (GRCm39) missense probably benign
R2151:Ubqlnl UTSW 7 103,797,890 (GRCm39) missense probably benign 0.00
R2152:Ubqlnl UTSW 7 103,797,890 (GRCm39) missense probably benign 0.00
R2153:Ubqlnl UTSW 7 103,797,890 (GRCm39) missense probably benign 0.00
R3712:Ubqlnl UTSW 7 103,798,345 (GRCm39) missense probably benign 0.03
R3914:Ubqlnl UTSW 7 103,798,813 (GRCm39) missense probably benign
R4367:Ubqlnl UTSW 7 103,798,925 (GRCm39) missense probably benign 0.00
R4404:Ubqlnl UTSW 7 103,798,925 (GRCm39) missense probably benign 0.00
R4405:Ubqlnl UTSW 7 103,798,925 (GRCm39) missense probably benign 0.00
R4406:Ubqlnl UTSW 7 103,798,925 (GRCm39) missense probably benign 0.00
R4407:Ubqlnl UTSW 7 103,798,925 (GRCm39) missense probably benign 0.00
R4449:Ubqlnl UTSW 7 103,798,925 (GRCm39) missense probably benign 0.00
R4458:Ubqlnl UTSW 7 103,798,396 (GRCm39) missense probably benign 0.01
R4508:Ubqlnl UTSW 7 103,798,925 (GRCm39) missense probably benign 0.00
R4516:Ubqlnl UTSW 7 103,798,925 (GRCm39) missense probably benign 0.00
R4517:Ubqlnl UTSW 7 103,798,925 (GRCm39) missense probably benign 0.00
R4518:Ubqlnl UTSW 7 103,798,925 (GRCm39) missense probably benign 0.00
R4522:Ubqlnl UTSW 7 103,798,925 (GRCm39) missense probably benign 0.00
R4523:Ubqlnl UTSW 7 103,798,925 (GRCm39) missense probably benign 0.00
R4524:Ubqlnl UTSW 7 103,798,925 (GRCm39) missense probably benign 0.00
R4529:Ubqlnl UTSW 7 103,798,925 (GRCm39) missense probably benign 0.00
R4531:Ubqlnl UTSW 7 103,798,925 (GRCm39) missense probably benign 0.00
R4739:Ubqlnl UTSW 7 103,798,925 (GRCm39) missense probably benign 0.00
R4740:Ubqlnl UTSW 7 103,798,925 (GRCm39) missense probably benign 0.00
R5339:Ubqlnl UTSW 7 103,798,972 (GRCm39) missense probably benign 0.00
R5357:Ubqlnl UTSW 7 103,798,138 (GRCm39) missense probably damaging 1.00
R5386:Ubqlnl UTSW 7 103,798,424 (GRCm39) missense probably benign 0.01
R5542:Ubqlnl UTSW 7 103,798,904 (GRCm39) nonsense probably null
R5588:Ubqlnl UTSW 7 103,798,339 (GRCm39) missense probably damaging 1.00
R6058:Ubqlnl UTSW 7 103,797,959 (GRCm39) missense probably benign
R6084:Ubqlnl UTSW 7 103,797,905 (GRCm39) missense probably benign 0.01
R6207:Ubqlnl UTSW 7 103,797,915 (GRCm39) missense possibly damaging 0.73
R6794:Ubqlnl UTSW 7 103,797,992 (GRCm39) missense probably benign 0.34
R7500:Ubqlnl UTSW 7 103,798,048 (GRCm39) missense probably damaging 1.00
R7575:Ubqlnl UTSW 7 103,797,697 (GRCm39) missense probably damaging 1.00
R8491:Ubqlnl UTSW 7 103,798,582 (GRCm39) missense probably benign 0.22
R8757:Ubqlnl UTSW 7 103,799,206 (GRCm39) missense probably damaging 1.00
R8759:Ubqlnl UTSW 7 103,799,206 (GRCm39) missense probably damaging 1.00
R9324:Ubqlnl UTSW 7 103,798,962 (GRCm39) missense possibly damaging 0.74
R9366:Ubqlnl UTSW 7 103,798,592 (GRCm39) missense possibly damaging 0.75
R9651:Ubqlnl UTSW 7 103,799,122 (GRCm39) missense possibly damaging 0.46
Z1088:Ubqlnl UTSW 7 103,799,200 (GRCm39) missense probably damaging 1.00
Z1177:Ubqlnl UTSW 7 103,797,835 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- CCAAGAATGGCTGTGAGTTTG -3'
(R):5'- ATCCCTGCCATCAAGACAGG -3'

Sequencing Primer
(F):5'- AGTTTGGTGGATACTCAGGGTTC -3'
(R):5'- CCCTAAAGGAAATAGCAGCATG -3'
Posted On 2015-11-11