Mutagenetix > Incidental Mutation

Incidental Mutation 'R3870:Usp14'

276545

Institutional Source

Beutler Lab

Gene Symbol

Usp14

Ensembl Gene

ENSMUSG00000047879

Gene Name

ubiquitin specific peptidase 14

Synonyms

ax, 2610005K12Rik, nmf375, ataxia, 2610037B11Rik, dUB-type TGT, NMF375

MMRRC Submission

040789-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3870 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

9993615-10030149 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10002370 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 314 (S314P)

Ref Sequence

ENSEMBL: ENSMUSP00000089728 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092096] [ENSMUST00000116669]

AlphaFold

Q9JMA1

PDB Structure

Solution Structure of the N-terminal Ubiquitin-like Domain of Mouse Ubiquitin Specific Protease 14 (USP14) [SOLUTION NMR]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092096
AA Change: S314P

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000089728
Gene: ENSMUSG00000047879
AA Change: S314P

Domain	Start	End	E-Value	Type
UBQ	4	74	3.61e-11	SMART
Pfam:UCH	104	479	9e-57	PFAM
Pfam:UCH_1	105	456	3.2e-17	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000116669
AA Change: S279P

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000112368
Gene: ENSMUSG00000047879
AA Change: S279P

Domain	Start	End	E-Value	Type
UBQ	4	73	2.63e-4	SMART
low complexity region	217	235	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133594

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154088

Meta Mutation Damage Score

0.5562

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.1%

Validation Efficiency

90% (61/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ubiquitin-specific processing (UBP) family of proteases that is a deubiquitinating enzyme (DUB) with His and Cys domains. This protein is located in the cytoplasm and cleaves the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. Mice with a mutation that results in reduced expression of the ortholog of this protein are retarded for growth, develop severe tremors by 2 to 3 weeks of age followed by hindlimb paralysis and death by 6 to 10 weeks of age. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a hypomorphic mutation develop severe tremors by 3 weeks of age, followed by hindlimb paralysis and premature death. An underdeveloped corpus callosum, hippocampus, dentate gyrus and forebrain structures, and notable defects in synaptic transmission in both the CNS and PNS are seen. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028J19Rik	T	A	7: 43,880,828 (GRCm39)		probably null	Het
Adam22	C	A	5: 8,182,418 (GRCm39)	C514F	probably damaging	Het
Akap8	G	A	17: 32,536,813 (GRCm39)		probably benign	Het
Armcx2	A	T	X: 133,707,048 (GRCm39)	V195E	probably benign	Het
Atg7	T	C	6: 114,674,008 (GRCm39)	S301P	possibly damaging	Het
Cc2d2a	C	A	5: 43,876,033 (GRCm39)	Y1003*	probably null	Het
Ccdc93	A	G	1: 121,390,843 (GRCm39)	S272G	probably benign	Het
Ces1d	C	G	8: 93,901,714 (GRCm39)	L418F	probably benign	Het
Cntnap5a	A	G	1: 115,987,979 (GRCm39)	E170G	probably damaging	Het
Cplane1	A	T	15: 8,247,948 (GRCm39)	K1499M	probably damaging	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Ehd4	T	A	2: 119,967,434 (GRCm39)	D120V	probably damaging	Het
Eif4g3	T	A	4: 137,824,211 (GRCm39)	V71E	probably damaging	Het
Exoc5	A	G	14: 49,256,853 (GRCm39)		probably benign	Het
Glud1	T	A	14: 34,047,537 (GRCm39)		probably benign	Het
Gm10985	TTCTCTCTCTCTCTCTCT	TTCTCTCTCTCTCTCT	3: 53,752,626 (GRCm39)		probably null	Het
Gm11555	G	T	11: 99,540,816 (GRCm39)	C64*	probably null	Het
Gm5468	A	G	15: 25,414,561 (GRCm39)		probably benign	Het
Gpatch2	T	A	1: 187,054,491 (GRCm39)	L74Q	probably damaging	Het
Hnrnpa0	G	A	13: 58,275,713 (GRCm39)	R139C	probably damaging	Het
Hrh1	A	G	6: 114,457,880 (GRCm39)	Y387C	probably damaging	Het
Ldb3	A	T	14: 34,289,440 (GRCm39)	D216E	probably damaging	Het
Lingo1	A	T	9: 56,527,009 (GRCm39)	S533T	probably benign	Het
Lmtk2	T	G	5: 144,103,245 (GRCm39)		probably benign	Het
Map1s	A	G	8: 71,369,745 (GRCm39)	E939G	possibly damaging	Het
Mast1	G	A	8: 85,645,360 (GRCm39)	T695I	probably damaging	Het
Mettl21e	G	A	1: 44,245,524 (GRCm39)	R241W	probably benign	Het
Mfsd4a	G	A	1: 131,974,091 (GRCm39)	T261I	probably damaging	Het
Mmel1	T	C	4: 154,968,095 (GRCm39)	S144P	probably benign	Het
Myo16	A	T	8: 10,492,239 (GRCm39)	H727L	probably benign	Het
Ncoa6	T	C	2: 155,257,477 (GRCm39)		probably null	Het
Nipa2	T	C	7: 55,582,690 (GRCm39)	R352G	probably damaging	Het
Oaf	C	T	9: 43,134,055 (GRCm39)	R222Q	probably benign	Het
Or2ag2b	T	A	7: 106,418,047 (GRCm39)	Y252*	probably null	Het
Pard3	T	C	8: 128,136,167 (GRCm39)	S847P	probably damaging	Het
Pgbd1	C	T	13: 21,618,540 (GRCm39)	R39H	possibly damaging	Het
Plcb1	A	C	2: 135,167,591 (GRCm39)	I462L	probably damaging	Het
Prex2	T	C	1: 11,230,416 (GRCm39)	V814A	possibly damaging	Het
Rasal3	G	A	17: 32,612,522 (GRCm39)	R780W	possibly damaging	Het
Rubcnl	C	T	14: 75,278,356 (GRCm39)	P380L	probably benign	Het
Ryk	A	G	9: 102,768,427 (GRCm39)	E359G	probably damaging	Het
Sall2	C	A	14: 52,551,451 (GRCm39)	L579F	probably damaging	Het
Satb2	A	G	1: 56,930,379 (GRCm39)	S215P	probably damaging	Het
Scg3	T	C	9: 75,582,781 (GRCm39)		probably benign	Het
Slc35f5	A	G	1: 125,490,098 (GRCm39)	T65A	probably benign	Het
Snx33	T	C	9: 56,834,024 (GRCm39)	N15S	probably benign	Het
Stat2	T	A	10: 128,113,762 (GRCm39)	S180R	probably benign	Het
Stxbp2	A	G	8: 3,684,079 (GRCm39)	T129A	probably damaging	Het
Tas1r3	A	T	4: 155,945,810 (GRCm39)	C529S	probably damaging	Het
Tlr12	T	A	4: 128,510,361 (GRCm39)	M630L	probably benign	Het
Tnfrsf10b	T	G	14: 70,010,905 (GRCm39)	D103E	probably benign	Het
Togaram1	A	C	12: 65,049,419 (GRCm39)	E1285D	probably benign	Het
Tppp	A	G	13: 74,178,891 (GRCm39)	T111A	probably benign	Het
Trim12c	T	C	7: 103,997,544 (GRCm39)	Q4R	probably benign	Het
Ttbk2	T	G	2: 120,570,500 (GRCm39)	S1149R	probably damaging	Het
Uncx	T	C	5: 139,533,120 (GRCm39)	L395P	probably damaging	Het
Usp32	A	T	11: 84,897,881 (GRCm39)	Y1153*	probably null	Het
Vmn2r6	T	C	3: 64,464,042 (GRCm39)	E264G	probably damaging	Het
Vmn2r77	T	C	7: 86,461,050 (GRCm39)	F792S	probably damaging	Het
Vps13c	A	G	9: 67,792,008 (GRCm39)	I425V	probably benign	Het
Vstm4	C	T	14: 32,585,712 (GRCm39)	A93V	probably benign	Het
Xrcc6	T	A	15: 81,909,885 (GRCm39)	S97T	probably benign	Het
Zscan20	A	G	4: 128,480,218 (GRCm39)	C758R	probably damaging	Het

Other mutations in Usp14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02671:Usp14	APN	18	9,997,196 (GRCm39)	missense	probably damaging	0.99
IGL02756:Usp14	APN	18	10,001,769 (GRCm39)	critical splice donor site	probably null
PIT4354001:Usp14	UTSW	18	9,996,189 (GRCm39)	missense	probably damaging	1.00
R1238:Usp14	UTSW	18	9,997,763 (GRCm39)	missense	probably benign
R1343:Usp14	UTSW	18	10,016,623 (GRCm39)	missense	probably benign	0.03
R1365:Usp14	UTSW	18	10,000,490 (GRCm39)	splice site	probably null
R1495:Usp14	UTSW	18	10,004,994 (GRCm39)	missense	probably benign	0.01
R1817:Usp14	UTSW	18	10,024,673 (GRCm39)	missense	probably damaging	1.00
R2021:Usp14	UTSW	18	10,024,632 (GRCm39)	missense	probably damaging	0.99
R2190:Usp14	UTSW	18	10,007,835 (GRCm39)	missense	probably damaging	1.00
R3836:Usp14	UTSW	18	10,024,532 (GRCm39)	critical splice donor site	probably null
R3837:Usp14	UTSW	18	10,024,532 (GRCm39)	critical splice donor site	probably null
R3838:Usp14	UTSW	18	10,024,532 (GRCm39)	critical splice donor site	probably null
R3839:Usp14	UTSW	18	10,024,532 (GRCm39)	critical splice donor site	probably null
R3871:Usp14	UTSW	18	10,002,370 (GRCm39)	missense	possibly damaging	0.89
R5388:Usp14	UTSW	18	10,018,023 (GRCm39)	missense	probably damaging	1.00
R5767:Usp14	UTSW	18	10,009,935 (GRCm39)	intron	probably benign
R5871:Usp14	UTSW	18	9,996,234 (GRCm39)	missense	probably benign	0.27
R5898:Usp14	UTSW	18	10,022,819 (GRCm39)	missense	possibly damaging	0.62
R7899:Usp14	UTSW	18	10,000,563 (GRCm39)	missense	possibly damaging	0.66
R8911:Usp14	UTSW	18	9,996,194 (GRCm39)	missense	probably damaging	1.00
R8996:Usp14	UTSW	18	10,000,521 (GRCm39)	missense	probably benign	0.13
R9310:Usp14	UTSW	18	9,996,239 (GRCm39)	missense	possibly damaging	0.67
R9723:Usp14	UTSW	18	10,009,993 (GRCm39)	missense	probably damaging	0.96
R9766:Usp14	UTSW	18	10,005,630 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- AGTCACTGCTCCAACCAGC -3'
(R):5'- AGAGCAACATTGTATTCAGAGCCTTTT -3'

Sequencing Primer
(F):5'- CAGCACCCTGGGATTAGAGAC -3'
(R):5'- GTCAGTCTCTGTGAGCTCCTATAAG -3'

Posted On

2015-04-06