Mutagenetix > Incidental Mutation

Incidental Mutation 'R6746:Usp38'

532838

Institutional Source

Beutler Lab

Gene Symbol

Usp38

Ensembl Gene

ENSMUSG00000038250

Gene Name

ubiquitin specific peptidase 38

Synonyms

4833420O05Rik, 4631402N15Rik

MMRRC Submission

044863-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6746 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81707362-81741557 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81740920 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 49 (I49T)

Ref Sequence

ENSEMBL: ENSMUSP00000039943 (fasta)

Gene Model

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

AlphaFold

Q8BW70

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042724
AA Change: I49T

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000039943
Gene: ENSMUSG00000038250
AA Change: I49T

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	T	17: 24,565,195 (GRCm39)	L79*	probably null	Het
Acot3	A	G	12: 84,100,248 (GRCm39)	N8S	probably benign	Het
Adora2a	T	C	10: 75,169,442 (GRCm39)	V302A	probably benign	Het
Anpep	A	C	7: 79,488,933 (GRCm39)		probably null	Het
Arrb1	A	G	7: 99,250,357 (GRCm39)	K392E	probably benign	Het
Atp8a1	A	T	5: 67,908,392 (GRCm39)	N444K	probably benign	Het
Bltp3b	T	A	10: 89,623,020 (GRCm39)	N298K	probably benign	Het
Brinp2	C	T	1: 158,094,160 (GRCm39)	G181R	probably benign	Het
Cacna1g	A	T	11: 94,300,253 (GRCm39)	C2184*	probably null	Het
Cacna1h	C	T	17: 25,600,524 (GRCm39)	A1606T	probably damaging	Het
Ccdc30	T	C	4: 119,213,915 (GRCm39)	T205A	probably benign	Het
Celsr1	A	G	15: 85,915,696 (GRCm39)	I759T	probably damaging	Het
Chaf1a	A	G	17: 56,370,404 (GRCm39)	D623G	possibly damaging	Het
Col6a3	G	T	1: 90,706,767 (GRCm39)	N2115K	unknown	Het
Dync1h1	A	T	12: 110,618,087 (GRCm39)	T3209S	probably damaging	Het
Erich6	T	C	3: 58,523,987 (GRCm39)	D629G	possibly damaging	Het
Fahd1	G	T	17: 25,068,915 (GRCm39)	A54E	probably damaging	Het
Flrt3	C	T	2: 140,501,945 (GRCm39)	R561Q	probably damaging	Het
Grm6	A	T	11: 50,747,790 (GRCm39)	D334V	probably damaging	Het
Helb	A	T	10: 119,941,373 (GRCm39)	D438E	probably damaging	Het
Hmgcs1	T	C	13: 120,156,585 (GRCm39)		probably null	Het
Hnf4g	C	A	3: 3,722,170 (GRCm39)	Y441*	probably null	Het
Hspa13	A	T	16: 75,561,925 (GRCm39)	N91K	possibly damaging	Het
Ilvbl	T	C	10: 78,413,057 (GRCm39)	I193T	possibly damaging	Het
Itga7	T	C	10: 128,785,341 (GRCm39)	V848A	probably benign	Het
Kash5	C	T	7: 44,849,735 (GRCm39)	V63I	probably benign	Het
Lpin1	A	G	12: 16,615,529 (GRCm39)	M341T	probably benign	Het
Lypd5	G	T	7: 24,052,531 (GRCm39)		probably null	Het
Mrgprb1	A	C	7: 48,097,645 (GRCm39)	V89G	possibly damaging	Het
Nsun7	T	C	5: 66,441,080 (GRCm39)		probably null	Het
Oasl1	T	A	5: 115,075,242 (GRCm39)	V434E	probably damaging	Het
Or2ak6	G	A	11: 58,593,369 (GRCm39)	V281I	probably benign	Het
Or7g22	A	G	9: 19,048,774 (GRCm39)	M162V	probably benign	Het
Or8k16	T	C	2: 85,519,952 (GRCm39)	Y60H	probably damaging	Het
Otor	T	A	2: 142,921,955 (GRCm39)		probably null	Het
Pik3cg	G	A	12: 32,244,757 (GRCm39)	T899M	probably damaging	Het
Plaat5	A	G	19: 7,590,695 (GRCm39)	D74G	probably benign	Het
Pld2	C	A	11: 70,431,933 (GRCm39)	L52M	probably damaging	Het
Pon3	A	T	6: 5,230,786 (GRCm39)	M247K	possibly damaging	Het
Ppfia2	C	A	10: 106,742,319 (GRCm39)	Y1037*	probably null	Het
Ppm1m	A	T	9: 106,075,351 (GRCm39)	C99*	probably null	Het
Prss44	A	T	9: 110,644,361 (GRCm39)	*145C	probably null	Het
Ptpro	T	A	6: 137,371,821 (GRCm39)	Y613N	probably damaging	Het
Ralgapb	T	G	2: 158,318,056 (GRCm39)	V866G	probably damaging	Het
Rassf6	C	A	5: 90,757,633 (GRCm39)	R109L	possibly damaging	Het
Rbm4b	A	C	19: 4,812,031 (GRCm39)	T147P	probably benign	Het
Rpl7l1	T	C	17: 47,090,322 (GRCm39)	K104R	probably benign	Het
Ryr1	A	T	7: 28,816,829 (GRCm39)	I69N	possibly damaging	Het
Scd1	G	T	19: 44,394,927 (GRCm39)	F99L	probably benign	Het
Semp2l1	A	T	1: 32,585,844 (GRCm39)	I22N	probably benign	Het
Spint2	A	T	7: 28,958,848 (GRCm39)	S66T	probably benign	Het
Tarm1	T	A	7: 3,550,978 (GRCm39)	I2F	probably benign	Het
Tenm4	T	C	7: 96,542,067 (GRCm39)	V1860A	probably damaging	Het
Vars2	A	G	17: 35,971,294 (GRCm39)		probably null	Het
Vmn2r27	T	G	6: 124,177,552 (GRCm39)	H484P	possibly damaging	Het
Wdr35	T	A	12: 9,053,982 (GRCm39)		probably null	Het
Zfp937	A	T	2: 150,081,343 (GRCm39)	K458*	probably null	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
R1355:Usp38	UTSW	8	81,711,662 (GRCm39)	missense	possibly damaging	0.61
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
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'- AATGTAGTCCAGGATGGCGAC -3'
(R):5'- TGCTGGTTGGCTCCAAGTTC -3'

Sequencing Primer
(F):5'- ATGGCGACGTCCTTCCTG -3'
(R):5'- GCCAGCTCTTTATCCCCAGGG -3'

Posted On

2018-08-29