Mutagenetix > Incidental Mutation

Incidental Mutation 'R7271:Psmd14'

565272

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

045356-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7271 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61542038-61630720 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 61591356 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 53 (V53A)

Ref Sequence

ENSEMBL: ENSMUSP00000028278 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028278]

AlphaFold

O35593

Predicted Effect

probably damaging
Transcript: ENSMUST00000028278
AA Change: V53A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000028278
Gene: ENSMUSG00000026914
AA Change: V53A

Domain	Start	End	E-Value	Type
low complexity region	4	19	N/A	INTRINSIC
JAB_MPN	30	165	3.71e-49	SMART
Pfam:MitMem_reg	173	307	9e-18	PFAM

Meta Mutation Damage Score

0.9090

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (58/58)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg1l	C	T	10: 42,291,544 (GRCm39)		probably null	Het
Ahnak2	A	T	12: 112,780,802 (GRCm38)	V70E		Het
Alpk3	A	G	7: 80,728,202 (GRCm39)	E444G	possibly damaging	Het
Amer2	T	A	14: 60,617,123 (GRCm39)	D439E	possibly damaging	Het
Ano6	A	G	15: 95,811,781 (GRCm39)	Y222C	probably damaging	Het
Atp4a	A	C	7: 30,421,944 (GRCm39)	K827Q	probably benign	Het
Atp9a	G	A	2: 168,576,047 (GRCm39)			Het
Casp7	T	A	19: 56,424,793 (GRCm39)	C171S	probably damaging	Het
Ccdc9b	T	A	2: 118,591,164 (GRCm39)		probably null	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cdkl1	A	G	12: 69,795,585 (GRCm39)	L315S	probably benign	Het
Cfap91	A	G	16: 38,148,708 (GRCm39)	I240T	probably damaging	Het
Crybg1	G	T	10: 43,873,619 (GRCm39)	S1163*	probably null	Het
Csmd1	A	T	8: 17,077,295 (GRCm39)	W121R	probably damaging	Het
Cyyr1	A	T	16: 85,262,493 (GRCm39)	M88K	possibly damaging	Het
Dlc1	T	C	8: 37,049,954 (GRCm39)	Q587R	probably damaging	Het
Dock2	T	C	11: 34,223,750 (GRCm39)	E1128G	possibly damaging	Het
Dynap	T	A	18: 70,374,320 (GRCm39)	T69S	possibly damaging	Het
Esr1	T	C	10: 4,733,874 (GRCm39)	C225R	probably damaging	Het
Fbxo31	C	T	8: 122,305,503 (GRCm39)		probably benign	Het
Fndc11	G	A	2: 180,863,893 (GRCm39)	V233I	possibly damaging	Het
Fto	T	C	8: 92,211,818 (GRCm39)	F381S	probably damaging	Het
Gtf2ird1	A	G	5: 134,433,758 (GRCm39)	L223P	probably benign	Het
Ifi214	A	T	1: 173,357,042 (GRCm39)	H20Q	probably damaging	Het
Impa2	T	A	18: 67,439,806 (GRCm39)	I101N	probably damaging	Het
Kidins220	A	T	12: 25,061,570 (GRCm39)	T854S	probably benign	Het
Lamb1	T	A	12: 31,337,423 (GRCm39)	C385S	probably damaging	Het
Lrrc8c	A	G	5: 105,755,853 (GRCm39)	S543G	probably benign	Het
Manba	A	T	3: 135,248,137 (GRCm39)	Y342F	probably damaging	Het
Map3k1	T	C	13: 111,893,231 (GRCm39)	D758G	probably benign	Het
Mtor	G	T	4: 148,630,942 (GRCm39)	A2300S	possibly damaging	Het
Musk	T	A	4: 58,373,409 (GRCm39)	M793K	probably damaging	Het
Nup133	A	C	8: 124,649,153 (GRCm39)	I563S	probably benign	Het
Or10ab4	G	A	7: 107,654,423 (GRCm39)	R78Q	probably damaging	Het
Or10ag55-ps1	T	A	2: 87,114,725 (GRCm39)	N30K	probably benign	Het
Or4k77	A	G	2: 111,199,693 (GRCm39)	T239A	probably damaging	Het
Or8g21	A	T	9: 38,905,953 (GRCm39)	Y259*	probably null	Het
Pcdh12	C	A	18: 38,416,100 (GRCm39)	V342F	probably damaging	Het
Pcdhb4	T	A	18: 37,441,222 (GRCm39)	H177Q	possibly damaging	Het
Pcnx2	G	A	8: 126,613,690 (GRCm39)	A587V	probably benign	Het
Phkb	C	T	8: 86,770,418 (GRCm39)	P896S	probably damaging	Het
Prss36	A	G	7: 127,543,877 (GRCm39)	S165P	probably benign	Het
Prss43	A	G	9: 110,657,671 (GRCm39)	D190G	probably damaging	Het
Sel1l3	T	G	5: 53,273,704 (GRCm39)	H1054P	probably damaging	Het
Selenoh	T	C	2: 84,500,631 (GRCm39)	R70G	probably damaging	Het
Serpinb9d	A	G	13: 33,378,617 (GRCm39)	Q21R	probably benign	Het
Slc29a1	T	C	17: 45,899,288 (GRCm39)	E262G	probably benign	Het
Slc7a14	A	G	3: 31,278,384 (GRCm39)	L407P	probably damaging	Het
Smyd4	T	C	11: 75,281,325 (GRCm39)	V266A	possibly damaging	Het
Spata31d1a	T	A	13: 59,849,913 (GRCm39)	R738S	probably benign	Het
Speer4a2	G	A	5: 26,292,993 (GRCm39)	T67I	probably benign	Het
Srcin1	C	T	11: 97,442,715 (GRCm39)	G38S	probably damaging	Het
Stab2	A	T	10: 86,838,972 (GRCm39)		probably null	Het
Syde2	A	G	3: 145,726,031 (GRCm39)	N1308D	possibly damaging	Het
Trip11	A	T	12: 101,850,611 (GRCm39)	M1151K	probably damaging	Het
Ttll4	A	T	1: 74,727,820 (GRCm39)	I861F	possibly damaging	Het
Zfp319	G	A	8: 96,058,471 (GRCm39)		probably benign	Het
Zfp518b	T	C	5: 38,831,907 (GRCm39)	N33D	probably benign	Het
Zfp874a	T	A	13: 67,591,415 (GRCm39)	I90F	probably benign	Het
Zmiz2	G	T	11: 6,349,593 (GRCm39)	V412L	probably damaging	Het

Other mutations in Psmd14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R1006:Psmd14	UTSW	2	61,627,726 (GRCm39)	splice site	probably null
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
R9075:Psmd14	UTSW	2	61,607,021 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTTCCCTCAGGCATAAGGATTAAC -3'
(R):5'- TGTAACACCCTACGTTTATAGCAAC -3'

Sequencing Primer
(F):5'- GCTTAGGGTATGTCTATAAAATAGGC -3'
(R):5'- AGTTCATGGTGCATTTAAAGGAC -3'

Posted On

2019-06-26