Mutagenetix > Incidental Mutations

Incidental Mutation 'R4176:Usp38'

319514

Institutional Source

Beutler Lab

Gene Symbol

Usp38

Ensembl Gene

ENSMUSG00000038250

Gene Name

ubiquitin specific peptidase 38

Synonyms

4833420O05Rik, 4631402N15Rik

MMRRC Submission

041014-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4176 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80980733-81014928 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 80993299 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 434 (S434A)

Ref Sequence

ENSEMBL: ENSMUSP00000039943 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042724]

Predicted Effect

probably benign
Transcript: ENSMUST00000042724
AA Change: S434A

PolyPhen 2 Score 0.330 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000039943
Gene: ENSMUSG00000038250
AA Change: S434A

Domain	Start	End	E-Value	Type
SCOP:d1gw5a_	1	365	5e-3	SMART
Pfam:UCH	444	946	1.8e-47	PFAM
Pfam:UCH_1	445	921	2.2e-23	PFAM
low complexity region	995	1006	N/A	INTRINSIC
low complexity region	1019	1033	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211538

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,545,037	E1274G	possibly damaging	Het
Abi3bp	A	G	16: 56,652,200	E424G	probably damaging	Het
Ankrd10	A	G	8: 11,612,644	I363T	probably benign	Het
Ankrd12	A	T	17: 66,027,366	N204K	probably damaging	Het
Brca2	C	A	5: 150,539,633	S954*	probably null	Het
Col11a1	A	C	3: 114,208,223	D432A	possibly damaging	Het
D230025D16Rik	T	C	8: 105,241,131	L218P	probably benign	Het
Dagla	G	T	19: 10,263,097	D256E	probably damaging	Het
Dsg2	T	A	18: 20,580,663	F230L	probably benign	Het
Elp5	T	C	11: 69,970,562	Q197R	probably null	Het
Emilin2	A	T	17: 71,274,263	D489E	probably benign	Het
Ermp1	A	G	19: 29,645,965		probably null	Het
Fam149a	A	G	8: 45,341,284	Y614H	probably benign	Het
Fam189b	T	C	3: 89,184,447	V87A	probably damaging	Het
Fnbp1	T	C	2: 31,036,119		probably null	Het
Gabrb3	T	C	7: 57,591,313	F13S	probably benign	Het
Gm884	T	A	11: 103,536,600	H1388L	unknown	Het
Hydin	G	A	8: 110,593,820	A4499T	probably benign	Het
Islr2	A	T	9: 58,199,900	C26S	probably damaging	Het
Jup	T	A	11: 100,372,461	D696V	probably benign	Het
Kcnq5	A	C	1: 21,535,168	V171G	probably damaging	Het
Kntc1	T	G	5: 123,776,617	S667A	possibly damaging	Het
Loxhd1	A	G	18: 77,331,059	T293A	possibly damaging	Het
Lrp1b	C	A	2: 41,408,393	C138F	probably damaging	Het
Mctp2	A	G	7: 72,259,337	I76T	probably benign	Het
Olfr180	T	C	16: 58,916,584	D19G	probably benign	Het
Olfr372	A	G	8: 72,058,184	Y168C	probably damaging	Het
Pbx1	A	G	1: 168,191,272		probably null	Het
Pelp1	A	T	11: 70,396,867	W410R	probably damaging	Het
Pkd1	T	C	17: 24,587,997	L3482P	probably benign	Het
Plekhn1	C	T	4: 156,221,801	G604E	probably benign	Het
Ptpn22	A	G	3: 103,886,245	T571A	probably benign	Het
Qrsl1	A	T	10: 43,884,832	S252T	probably damaging	Het
Rab3gap2	T	A	1: 185,246,666	M280K	probably damaging	Het
Serpinh1	T	C	7: 99,346,999	M293V	probably benign	Het
Six4	G	A	12: 73,108,831	T454I	probably damaging	Het
Slc26a8	T	A	17: 28,647,999	E585D	probably benign	Het
Slc34a2	T	G	5: 53,067,568	C350W	probably damaging	Het
Slit2	T	A	5: 48,237,244		probably null	Het
Trip11	G	A	12: 101,895,698	Q203*	probably null	Het
Trpm7	T	C	2: 126,829,163	K633R	possibly damaging	Het
Zbtb16	A	G	9: 48,659,801	F555S	probably damaging	Het
Zfp141	A	T	7: 42,476,281	S256T	probably benign	Het

Other mutations in Usp38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01151:Usp38	APN	8	81013840	missense	probably damaging	0.99
IGL01373:Usp38	APN	8	80990018	missense	possibly damaging	0.80
IGL02089:Usp38	APN	8	80985714	missense	possibly damaging	0.48
IGL02528:Usp38	APN	8	80993235	missense	probably damaging	1.00
IGL02538:Usp38	APN	8	80985558	missense	probably damaging	1.00
IGL02615:Usp38	APN	8	80985151	missense	probably benign	0.00
IGL03340:Usp38	APN	8	81012276	missense	probably damaging	1.00
P0033:Usp38	UTSW	8	80981896	missense	probably benign	0.12
R0313:Usp38	UTSW	8	80984442	nonsense	probably null
R0331:Usp38	UTSW	8	80995840	missense	probably benign	0.00
R0497:Usp38	UTSW	8	80984424	splice site	probably benign
R0594:Usp38	UTSW	8	81005366	missense	probably damaging	0.97
R0632:Usp38	UTSW	8	81014150	missense	probably benign	0.03
R1355:Usp38	UTSW	8	80985033	missense	possibly damaging	0.61
R1500:Usp38	UTSW	8	80995770	missense	probably damaging	1.00
R1566:Usp38	UTSW	8	80984803	missense	probably benign	0.00
R1880:Usp38	UTSW	8	81001066	missense	probably damaging	1.00
R4161:Usp38	UTSW	8	80993338	missense	probably damaging	1.00
R4882:Usp38	UTSW	8	80981977	nonsense	probably null
R5344:Usp38	UTSW	8	80985763	missense	possibly damaging	0.76
R5481:Usp38	UTSW	8	80993323	missense	possibly damaging	0.89
R5564:Usp38	UTSW	8	80985088	missense	probably damaging	0.96
R5897:Usp38	UTSW	8	81005453	missense	probably benign	0.03
R6111:Usp38	UTSW	8	81013922	missense	probably damaging	1.00
R6746:Usp38	UTSW	8	81014291	missense	possibly damaging	0.80
R6912:Usp38	UTSW	8	80993329	missense	probably damaging	1.00
R7051:Usp38	UTSW	8	81001121	missense	possibly damaging	0.50
R7483:Usp38	UTSW	8	81014561	start gained	probably benign
R7525:Usp38	UTSW	8	81014246	missense	probably damaging	1.00
R7565:Usp38	UTSW	8	80981972	missense	probably damaging	1.00
RF016:Usp38	UTSW	8	81013893	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ACTTACGCTGCTTACACGG -3'
(R):5'- TCAAATGTCAGTAGGGAAGTCC -3'

Sequencing Primer
(F):5'- AGCAGGGACGATTCTCTCCTC -3'
(R):5'- CTTTCCTAAGCCCAGTGA -3'

Posted On

2015-06-10