Incidental Mutation 'R1006:Psmd14'
ID 95714
Institutional Source Beutler Lab
Gene Symbol Psmd14
Ensembl Gene ENSMUSG00000026914
Gene Name proteasome (prosome, macropain) 26S subunit, non-ATPase, 14
Synonyms Pad1, 2610312C03Rik, POH1, 3200001M20Rik
MMRRC Submission 039116-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1006 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 61542038-61630720 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 61627726 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000028278 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028278]
AlphaFold O35593
Predicted Effect probably null
Transcript: ENSMUST00000028278
SMART Domains Protein: ENSMUSP00000028278
Gene: ENSMUSG00000026914

DomainStartEndE-ValueType
low complexity region 4 19 N/A INTRINSIC
JAB_MPN 30 165 3.71e-49 SMART
Pfam:MitMem_reg 173 307 9e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125388
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154627
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157169
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 97.8%
  • 10x: 93.4%
  • 20x: 82.9%
Validation Efficiency 100% (43/43)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the 26S proteasome. The 26S proteasome is a large multiprotein complex that catalyzes the degradation of ubiquitinated intracellular proteins. The encoded protein is a component of the 19S regulatory cap complex of the 26S proteasome and mediates substrate deubiquitination. A pseudogene of this gene is also located on the long arm of chromosome 2. [provided by RefSeq, Feb 2012]
Allele List at MGI

All alleles(42) : Gene trapped(42)
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd8 A T 8: 71,911,085 (GRCm39) I282N probably benign Het
Akr1c18 T C 13: 4,186,654 (GRCm39) I265V probably benign Het
Amph G A 13: 19,326,198 (GRCm39) V643M probably damaging Het
Arfgef1 T C 1: 10,210,706 (GRCm39) I1788V probably benign Het
Cacng7 T A 7: 3,415,445 (GRCm39) I270N possibly damaging Het
Ccdc81 C T 7: 89,515,769 (GRCm39) E637K probably benign Het
Cnbd2 A G 2: 156,170,328 (GRCm39) I138V possibly damaging Het
Cntnap5b A G 1: 100,311,342 (GRCm39) K983E probably benign Het
Col14a1 T C 15: 55,383,331 (GRCm39) S1770P probably benign Het
Cpsf6 A T 10: 117,201,973 (GRCm39) probably benign Het
Ctsc G A 7: 87,959,037 (GRCm39) R439H probably damaging Het
Dcun1d1 A G 3: 35,951,930 (GRCm39) probably benign Het
Flg2 A G 3: 93,108,514 (GRCm39) I181V probably benign Het
Gbp2 A T 3: 142,343,183 (GRCm39) S567C probably damaging Het
Gm5114 A G 7: 39,058,510 (GRCm39) S370P probably damaging Het
Kcnh7 A G 2: 62,546,527 (GRCm39) V1018A probably benign Het
Kmt2a G A 9: 44,758,993 (GRCm39) A952V probably damaging Het
Krt1 C T 15: 101,756,326 (GRCm39) E340K possibly damaging Het
Lim2 T A 7: 43,084,826 (GRCm39) I141N probably damaging Het
Nlrp4a T C 7: 26,152,892 (GRCm39) V654A probably benign Het
Or5b24 T A 19: 12,912,638 (GRCm39) C179S probably damaging Het
Prr14l T C 5: 32,986,826 (GRCm39) S890G probably benign Het
Ptpn13 A G 5: 103,734,655 (GRCm39) D2129G probably benign Het
Pum1 C T 4: 130,499,199 (GRCm39) T760M probably damaging Het
Rif1 A G 2: 51,975,041 (GRCm39) I317V probably damaging Het
Sh3bgrl2 C T 9: 83,459,684 (GRCm39) probably benign Het
Slfn8 A T 11: 82,894,337 (GRCm39) H767Q possibly damaging Het
Sned1 G A 1: 93,184,114 (GRCm39) G114D probably damaging Het
Stard9 C A 2: 120,504,117 (GRCm39) S221R probably damaging Het
Tenm3 A T 8: 48,681,577 (GRCm39) D2684E probably damaging Het
Tet2 T C 3: 133,182,362 (GRCm39) T1201A possibly damaging Het
Vax2 T C 6: 83,714,759 (GRCm39) S225P probably damaging Het
Vcan A G 13: 89,833,196 (GRCm39) probably null Het
Washc5 T A 15: 59,241,035 (GRCm39) Q100L probably benign Het
Washc5 G T 15: 59,241,036 (GRCm39) Q100K probably benign Het
Zc3h13 A G 14: 75,567,989 (GRCm39) D1094G probably damaging Het
Zmiz1 A G 14: 25,663,404 (GRCm39) Y1051C unknown Het
Zswim2 G A 2: 83,745,737 (GRCm39) S567L probably damaging Het
Other mutations in Psmd14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00496:Psmd14 APN 2 61,591,026 (GRCm39) missense probably damaging 1.00
IGL01071:Psmd14 APN 2 61,630,407 (GRCm39) missense probably benign 0.01
IGL03036:Psmd14 APN 2 61,614,205 (GRCm39) missense probably damaging 1.00
Agra UTSW 2 61,591,356 (GRCm39) missense probably damaging 1.00
3-1:Psmd14 UTSW 2 61,591,326 (GRCm39) missense probably damaging 1.00
R0506:Psmd14 UTSW 2 61,630,407 (GRCm39) missense probably benign 0.01
R1518:Psmd14 UTSW 2 61,591,335 (GRCm39) missense probably damaging 0.99
R1543:Psmd14 UTSW 2 61,615,874 (GRCm39) missense probably benign 0.00
R1913:Psmd14 UTSW 2 61,615,800 (GRCm39) missense possibly damaging 0.94
R2356:Psmd14 UTSW 2 61,630,351 (GRCm39) missense probably benign
R6820:Psmd14 UTSW 2 61,607,068 (GRCm39) missense probably benign
R7271:Psmd14 UTSW 2 61,591,356 (GRCm39) missense probably damaging 1.00
R9075:Psmd14 UTSW 2 61,607,021 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCACAGAAGGATTCCTTGTACTCCC -3'
(R):5'- CCACAAGCAGCAAAGAGAATTTGGC -3'

Sequencing Primer
(F):5'- CTCTCAGGGCCATTTAGTGAGC -3'
(R):5'- TCAGCACGAGACTGTGTAAC -3'
Posted On 2014-01-05