Mutagenetix > Incidental Mutation

Incidental Mutation 'R3836:Usp14'

275668

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

040891-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3836 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

9993615-10030149 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 10024532 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112368 (fasta)

Gene Model

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

AlphaFold

Q9JMA1

Predicted Effect

probably null
Transcript: ENSMUST00000092096

SMART Domains

Protein: ENSMUSP00000089728
Gene: ENSMUSG00000047879

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

probably null
Transcript: ENSMUST00000116669

SMART Domains

Protein: ENSMUSP00000112368
Gene: ENSMUSG00000047879

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: ENSMUST00000128334

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142013

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150321

Meta Mutation Damage Score

0.9503

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (61/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028I16Rik	A	G	10: 82,648,219 (GRCm39)		noncoding transcript	Het
Aasdh	A	G	5: 77,026,315 (GRCm39)	V903A	probably benign	Het
Afg2a	T	A	3: 37,487,792 (GRCm39)	Y428N	possibly damaging	Het
Ankrd6	T	A	4: 32,817,531 (GRCm39)	D271V	probably damaging	Het
Ano10	C	T	9: 122,092,829 (GRCm39)	V167M	possibly damaging	Het
Arhgef25	T	C	10: 127,025,605 (GRCm39)	T12A	probably benign	Het
AW551984	T	C	9: 39,509,204 (GRCm39)		probably benign	Het
Bub1	G	T	2: 127,656,806 (GRCm39)	P442Q	probably damaging	Het
Clstn1	A	G	4: 149,722,790 (GRCm39)	E476G	probably damaging	Het
Comp	A	G	8: 70,826,509 (GRCm39)	D28G	probably benign	Het
Crym	A	G	7: 119,800,439 (GRCm39)	V61A	probably benign	Het
Dock4	G	T	12: 40,844,623 (GRCm39)		probably null	Het
Dtna	A	T	18: 23,758,159 (GRCm39)	Q488L	probably damaging	Het
Ecel1	A	C	1: 87,078,378 (GRCm39)	L565R	probably damaging	Het
Extl2	T	C	3: 115,818,006 (GRCm39)	I106T	probably benign	Het
Fam13c	C	T	10: 70,378,478 (GRCm39)	S336L	probably damaging	Het
Fnbp4	A	G	2: 90,577,129 (GRCm39)	T154A	probably damaging	Het
Fsip2	T	C	2: 82,781,290 (GRCm39)	L32P	probably damaging	Het
Gldc	T	A	19: 30,096,075 (GRCm39)		probably benign	Het
Gm12695	T	G	4: 96,650,334 (GRCm39)	T171P	probably damaging	Het
Gm4868	A	C	5: 125,925,014 (GRCm39)		noncoding transcript	Het
Gpam	T	C	19: 55,068,890 (GRCm39)	N450S	probably benign	Het
Gstm5	T	C	3: 107,803,678 (GRCm39)	I37T	probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Itga11	G	T	9: 62,676,565 (GRCm39)	V918L	probably benign	Het
Itgb2l	T	A	16: 96,227,367 (GRCm39)	M559L	probably benign	Het
Itih1	T	A	14: 30,657,785 (GRCm39)	N429Y	probably damaging	Het
Madd	A	T	2: 90,984,988 (GRCm39)		probably null	Het
Map3k11	A	G	19: 5,740,831 (GRCm39)	E186G	possibly damaging	Het
Mbl2	T	C	19: 30,216,914 (GRCm39)	F242S	probably damaging	Het
Mcph1	A	G	8: 18,672,675 (GRCm39)	T102A	possibly damaging	Het
Mid1ip1	T	C	X: 10,584,620 (GRCm39)	V51A	possibly damaging	Het
Mkln1	A	G	6: 31,445,271 (GRCm39)	D389G	probably damaging	Het
Mmrn1	G	A	6: 60,921,831 (GRCm39)	S96N	probably benign	Het
Myd88	A	G	9: 119,167,259 (GRCm39)		probably benign	Het
Nap1l1	T	A	10: 111,331,183 (GRCm39)		probably null	Het
Nprl3	C	T	11: 32,183,082 (GRCm39)	E502K	probably damaging	Het
Nudt5	T	A	2: 5,871,158 (GRCm39)		probably null	Het
Or52b2	G	A	7: 104,986,417 (GRCm39)	P169S	probably benign	Het
Or5h23	A	G	16: 58,906,586 (GRCm39)	S87P	possibly damaging	Het
Or6c69b	C	T	10: 129,627,039 (GRCm39)	V140M	probably benign	Het
Or8j3	A	G	2: 86,029,006 (GRCm39)	V30A	probably benign	Het
Plaa	T	C	4: 94,475,159 (GRCm39)		probably null	Het
Ptk2b	A	G	14: 66,393,791 (GRCm39)	L894P	probably damaging	Het
Rab8b	A	G	9: 66,755,078 (GRCm39)	S183P	probably benign	Het
Reln	A	G	5: 22,116,012 (GRCm39)	Y2999H	probably damaging	Het
Rims4	A	G	2: 163,760,573 (GRCm39)	S11P	possibly damaging	Het
Scel	A	G	14: 103,829,822 (GRCm39)	K448R	possibly damaging	Het
Serpinb10	A	T	1: 107,463,816 (GRCm39)	T33S	probably benign	Het
Sgip1	A	G	4: 102,724,897 (GRCm39)		probably null	Het
Sv2b	A	T	7: 74,807,176 (GRCm39)	M158K	probably damaging	Het
Tmem132d	A	T	5: 127,861,949 (GRCm39)	I724N	probably damaging	Het
Tnrc6c	A	G	11: 117,614,055 (GRCm39)	T738A	probably benign	Het
Tpbg	T	C	9: 85,725,167 (GRCm39)		probably benign	Het
Tubb2a	G	T	13: 34,259,294 (GRCm39)	N165K	probably benign	Het
Ubtfl1	A	T	9: 18,320,533 (GRCm39)	E20D	possibly damaging	Het
Vmn2r25	C	A	6: 123,830,044 (GRCm39)	D36Y	probably damaging	Het
Wdhd1	A	G	14: 47,482,511 (GRCm39)	V946A	probably benign	Het
Wnk1	T	C	6: 119,927,004 (GRCm39)	E1265G	probably damaging	Het
Zmynd8	G	A	2: 165,700,019 (GRCm39)	T14I	probably benign	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
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
R3870:Usp14	UTSW	18	10,002,370 (GRCm39)	missense	possibly damaging	0.89
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'- AGACATGATGCTCCTCACATAC -3'
(R):5'- GCTCTGAAACATGACGTTGG -3'

Sequencing Primer
(F):5'- AACATCACTAGAACAGTTTAAATGGG -3'
(R):5'- CTGCTGGCTTTGAACTCACAAAAG -3'

Posted On

2015-04-06