Mutagenetix > Incidental Mutation

Incidental Mutation 'R1355:Usp38'

156283

Institutional Source

Beutler Lab

Gene Symbol

Usp38

Ensembl Gene

ENSMUSG00000038250

Gene Name

ubiquitin specific peptidase 38

Synonyms

4833420O05Rik, 4631402N15Rik

MMRRC Submission

039420-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1355 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81707362-81741557 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81711662 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 791 (E791G)

Ref Sequence

ENSEMBL: ENSMUSP00000039943 (fasta)

Gene Model

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

AlphaFold

Q8BW70

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042724
AA Change: E791G

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000039943
Gene: ENSMUSG00000038250
AA Change: E791G

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

Meta Mutation Damage Score

0.2867

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 91.4%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	C	T	8: 124,688,791 (GRCm39)	G495D	probably damaging	Het
Ankrd52	A	G	10: 128,224,565 (GRCm39)	D781G	possibly damaging	Het
Arhgef5	T	A	6: 43,260,846 (GRCm39)	F1424I	probably damaging	Het
Atp10b	G	A	11: 43,042,482 (GRCm39)	W14*	probably null	Het
B4galnt4	T	C	7: 140,645,308 (GRCm39)	V259A	probably damaging	Het
Ccdc141	A	T	2: 76,860,945 (GRCm39)	I944N	probably damaging	Het
Ccdc146	A	T	5: 21,526,240 (GRCm39)	D224E	probably damaging	Het
Ccne1	A	G	7: 37,805,747 (GRCm39)	I43T	possibly damaging	Het
Cd226	T	A	18: 89,265,147 (GRCm39)	S29T	probably benign	Het
Cebpz	G	T	17: 79,242,753 (GRCm39)	D300E	probably benign	Het
Cryzl1	A	G	16: 91,489,546 (GRCm39)	V266A	possibly damaging	Het
Cyp2c68	A	G	19: 39,729,400 (GRCm39)	L29P	probably damaging	Het
Dennd3	A	C	15: 73,412,703 (GRCm39)		probably benign	Het
Dpy19l4	C	T	4: 11,303,371 (GRCm39)	W183*	probably null	Het
Eml6	T	G	11: 29,783,085 (GRCm39)	S599R	probably benign	Het
Erc1	A	T	6: 119,720,381 (GRCm39)	L440*	probably null	Het
Frem3	A	G	8: 81,417,331 (GRCm39)	Y2012C	probably damaging	Het
Garin5a	A	G	7: 44,146,115 (GRCm39)	K2E	possibly damaging	Het
Gm10288	A	T	3: 146,544,748 (GRCm39)		noncoding transcript	Het
Gm1110	T	A	9: 26,795,057 (GRCm39)	K476N	probably benign	Het
Gm11937	A	T	11: 99,500,733 (GRCm39)	S95T	possibly damaging	Het
H2bc13	T	A	13: 21,900,027 (GRCm39)	Q96L	probably damaging	Het
Hs6st1	T	A	1: 36,142,657 (GRCm39)	H197Q	probably damaging	Het
Ism1	A	T	2: 139,573,994 (GRCm39)	I115F	possibly damaging	Het
Itgb8	C	T	12: 119,134,738 (GRCm39)	G443E	probably benign	Het
Kalrn	T	A	16: 33,795,954 (GRCm39)	I1274F	possibly damaging	Het
Lrrcc1	G	T	3: 14,613,174 (GRCm39)	V299L	probably benign	Het
Mettl5	A	T	2: 69,711,764 (GRCm39)		probably null	Het
Mtcl3	A	T	10: 29,023,318 (GRCm39)	T222S	probably benign	Het
Nlrp2	G	T	7: 5,330,490 (GRCm39)	N635K	possibly damaging	Het
Or4c3d	G	A	2: 89,881,957 (GRCm39)	T237I	probably benign	Het
Or5ac16	A	G	16: 59,022,043 (GRCm39)	S249P	probably damaging	Het
Or5b112	T	A	19: 13,319,882 (GRCm39)	Y253*	probably null	Het
Or8g18	G	C	9: 39,149,547 (GRCm39)	P58A	probably benign	Het
Plxna1	A	G	6: 89,297,748 (GRCm39)		probably benign	Het
Ppp4r1	A	T	17: 66,147,982 (GRCm39)	E924D	probably benign	Het
Prdm2	C	T	4: 142,858,533 (GRCm39)	V1586I	probably benign	Het
Pros1	A	G	16: 62,739,921 (GRCm39)	K457E	probably benign	Het
Rer1	T	A	4: 155,160,081 (GRCm39)	M156L	probably benign	Het
Rgs16	A	T	1: 153,619,414 (GRCm39)	K140M	probably damaging	Het
Rgsl1	A	G	1: 153,683,507 (GRCm39)	M1T	probably null	Het
Setdb2	T	A	14: 59,654,890 (GRCm39)	K333N	probably damaging	Het
Sgo2a	A	G	1: 58,057,124 (GRCm39)	T1103A	possibly damaging	Het
Sik3	C	T	9: 46,107,170 (GRCm39)		probably benign	Het
Slc44a3	C	A	3: 121,325,320 (GRCm39)	G47V	probably damaging	Het
Snrpd1	G	A	18: 10,627,818 (GRCm39)	G103D	probably benign	Het
Sspo	T	A	6: 48,425,560 (GRCm39)	S60R	probably benign	Het
Susd1	C	T	4: 59,424,114 (GRCm39)	C37Y	possibly damaging	Het
Tiam1	A	T	16: 89,695,109 (GRCm39)	I116N	probably benign	Het
Ttc3	A	G	16: 94,219,496 (GRCm39)	S492G	possibly damaging	Het
Uckl1	G	T	2: 181,215,169 (GRCm39)	T213K	probably damaging	Het
Vps13b	C	T	15: 35,422,600 (GRCm39)	R187C	probably damaging	Het
Vwa3a	A	G	7: 120,383,334 (GRCm39)	Y645C	probably damaging	Het
Wasf3	T	C	5: 146,407,018 (GRCm39)		probably benign	Het

Other mutations in Usp38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01151:Usp38	APN	8	81,740,469 (GRCm39)	missense	probably damaging	0.99
IGL01373:Usp38	APN	8	81,716,647 (GRCm39)	missense	possibly damaging	0.80
IGL02089:Usp38	APN	8	81,712,343 (GRCm39)	missense	possibly damaging	0.48
IGL02528:Usp38	APN	8	81,719,864 (GRCm39)	missense	probably damaging	1.00
IGL02538:Usp38	APN	8	81,712,187 (GRCm39)	missense	probably damaging	1.00
IGL02615:Usp38	APN	8	81,711,780 (GRCm39)	missense	probably benign	0.00
IGL03340:Usp38	APN	8	81,738,905 (GRCm39)	missense	probably damaging	1.00
P0033:Usp38	UTSW	8	81,708,525 (GRCm39)	missense	probably benign	0.12
R0313:Usp38	UTSW	8	81,711,071 (GRCm39)	nonsense	probably null
R0331:Usp38	UTSW	8	81,722,469 (GRCm39)	missense	probably benign	0.00
R0497:Usp38	UTSW	8	81,711,053 (GRCm39)	splice site	probably benign
R0594:Usp38	UTSW	8	81,731,995 (GRCm39)	missense	probably damaging	0.97
R0632:Usp38	UTSW	8	81,740,779 (GRCm39)	missense	probably benign	0.03
R1500:Usp38	UTSW	8	81,722,399 (GRCm39)	missense	probably damaging	1.00
R1566:Usp38	UTSW	8	81,711,432 (GRCm39)	missense	probably benign	0.00
R1880:Usp38	UTSW	8	81,727,695 (GRCm39)	missense	probably damaging	1.00
R4161:Usp38	UTSW	8	81,719,967 (GRCm39)	missense	probably damaging	1.00
R4176:Usp38	UTSW	8	81,719,928 (GRCm39)	missense	probably benign	0.33
R4882:Usp38	UTSW	8	81,708,606 (GRCm39)	nonsense	probably null
R5344:Usp38	UTSW	8	81,712,392 (GRCm39)	missense	possibly damaging	0.76
R5481:Usp38	UTSW	8	81,719,952 (GRCm39)	missense	possibly damaging	0.89
R5564:Usp38	UTSW	8	81,711,717 (GRCm39)	missense	probably damaging	0.96
R5897:Usp38	UTSW	8	81,732,082 (GRCm39)	missense	probably benign	0.03
R6111:Usp38	UTSW	8	81,740,551 (GRCm39)	missense	probably damaging	1.00
R6746:Usp38	UTSW	8	81,740,920 (GRCm39)	missense	possibly damaging	0.80
R6912:Usp38	UTSW	8	81,719,958 (GRCm39)	missense	probably damaging	1.00
R7051:Usp38	UTSW	8	81,727,750 (GRCm39)	missense	possibly damaging	0.50
R7483:Usp38	UTSW	8	81,741,190 (GRCm39)	start gained	probably benign
R7525:Usp38	UTSW	8	81,740,875 (GRCm39)	missense	probably damaging	1.00
R7565:Usp38	UTSW	8	81,708,601 (GRCm39)	missense	probably damaging	1.00
R7915:Usp38	UTSW	8	81,727,712 (GRCm39)	missense	probably damaging	1.00
R7934:Usp38	UTSW	8	81,711,077 (GRCm39)	missense	probably damaging	1.00
R7988:Usp38	UTSW	8	81,740,945 (GRCm39)	missense	probably benign	0.01
R8062:Usp38	UTSW	8	81,711,218 (GRCm39)	missense	probably damaging	1.00
R8340:Usp38	UTSW	8	81,712,031 (GRCm39)	missense	probably benign
R8514:Usp38	UTSW	8	81,712,346 (GRCm39)	missense	probably benign	0.01
R8919:Usp38	UTSW	8	81,708,479 (GRCm39)	missense	probably damaging	1.00
R9119:Usp38	UTSW	8	81,711,228 (GRCm39)	missense	probably damaging	1.00
R9664:Usp38	UTSW	8	81,741,164 (GRCm39)	start gained	probably benign
RF016:Usp38	UTSW	8	81,740,522 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GGGTGCTAATGCCAGACTTTCAGAC -3'
(R):5'- GAAAGCTGTGCCTCTCTACAGAACG -3'

Sequencing Primer
(F):5'- GCACATCTGGTATGAAGACTCTG -3'
(R):5'- TCTACAGAACGCAGAGAAAACTATG -3'

Posted On

2014-02-11