Mutagenetix > Incidental Mutation

Incidental Mutation 'R1880:Usp38'

209044

Institutional Source

Beutler Lab

Gene Symbol

Usp38

Ensembl Gene

ENSMUSG00000038250

Gene Name

ubiquitin specific peptidase 38

Synonyms

4833420O05Rik, 4631402N15Rik

MMRRC Submission

039901-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1880 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

81707362-81741557 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81727695 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 346 (E346G)

Ref Sequence

ENSEMBL: ENSMUSP00000039943 (fasta)

Gene Model

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

AlphaFold

Q8BW70

Predicted Effect

probably damaging
Transcript: ENSMUST00000042724
AA Change: E346G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000039943
Gene: ENSMUSG00000038250
AA Change: E346G

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: 97.4%
3x: 96.9%
10x: 95.4%
20x: 93.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	A	G	17: 14,072,615 (GRCm39)	D846G	possibly damaging	Het
Arhgef5	C	A	6: 43,250,022 (GRCm39)	Q258K	possibly damaging	Het
Atp10b	G	T	11: 43,150,259 (GRCm39)	G1319V	probably damaging	Het
Axl	T	C	7: 25,473,973 (GRCm39)	T315A	probably damaging	Het
Brd10	C	A	19: 29,695,523 (GRCm39)	L1323F	probably benign	Het
Btnl2	A	G	17: 34,584,337 (GRCm39)	E420G	possibly damaging	Het
Capn2	A	G	1: 182,316,581 (GRCm39)	W293R	probably damaging	Het
Cd209f	A	G	8: 4,155,464 (GRCm39)		probably null	Het
Cltc	A	G	11: 86,603,457 (GRCm39)	Y790H	probably damaging	Het
Col1a1	A	G	11: 94,841,394 (GRCm39)	K1259R	unknown	Het
Dpysl3	A	T	18: 43,462,939 (GRCm39)		probably null	Het
Dus4l	T	C	12: 31,690,869 (GRCm39)	I261V	probably benign	Het
Ell3	T	C	2: 121,270,792 (GRCm39)	D247G	probably benign	Het
Erg	G	A	16: 95,178,168 (GRCm39)	T246I	probably benign	Het
Eva1c	T	C	16: 90,694,303 (GRCm39)	I196T	possibly damaging	Het
Fbxo43	T	C	15: 36,162,661 (GRCm39)	D182G	probably benign	Het
Frrs1	T	C	3: 116,690,444 (GRCm39)		probably null	Het
G530012D18Rik	CAGAGAGA	CAGAGAGAGA	1: 85,504,945 (GRCm39)		probably null	Het
Gata4	G	T	14: 63,442,144 (GRCm39)	P20Q	probably damaging	Het
Gmnc	T	C	16: 26,784,361 (GRCm39)	D48G	probably damaging	Het
Gtf2h3	C	T	5: 124,722,336 (GRCm39)	A113V	probably benign	Het
Habp2	A	G	19: 56,306,260 (GRCm39)	I481V	possibly damaging	Het
Hmcn1	C	T	1: 150,514,651 (GRCm39)	V3574M	probably benign	Het
Hnrnpul1	A	G	7: 25,432,523 (GRCm39)	V380A	possibly damaging	Het
Hspa2	G	A	12: 76,452,694 (GRCm39)	D463N	possibly damaging	Het
Itga11	A	G	9: 62,585,231 (GRCm39)	D2G	probably benign	Het
Kel	G	A	6: 41,664,479 (GRCm39)	L653F	possibly damaging	Het
Lgr5	T	C	10: 115,288,184 (GRCm39)	Y748C	probably damaging	Het
Lpxn	A	G	19: 12,781,452 (GRCm39)	K57E	probably benign	Het
Ltbp2	G	T	12: 84,876,045 (GRCm39)	H501N	probably benign	Het
Macf1	G	A	4: 123,332,384 (GRCm39)	A2419V	probably damaging	Het
Map3k12	A	G	15: 102,410,499 (GRCm39)		probably null	Het
Megf8	G	A	7: 25,034,285 (GRCm39)	V668I	possibly damaging	Het
Mmp10	T	C	9: 7,505,575 (GRCm39)	S280P	probably benign	Het
Neb	C	A	2: 52,148,743 (GRCm39)	M2601I	probably damaging	Het
Nsd1	T	A	13: 55,361,606 (GRCm39)	N191K	probably damaging	Het
Or2w1	A	T	13: 21,317,802 (GRCm39)	N286Y	probably damaging	Het
Or5e1	T	C	7: 108,354,335 (GRCm39)	S91P	probably damaging	Het
Or5w14	C	A	2: 87,541,639 (GRCm39)	G204C	probably damaging	Het
Or6c214	A	G	10: 129,591,290 (GRCm39)	F10L	probably benign	Het
Patj	C	T	4: 98,385,477 (GRCm39)	P364S	probably benign	Het
Pex1	T	C	5: 3,655,770 (GRCm39)	V39A	probably benign	Het
Pira13	C	T	7: 3,827,950 (GRCm39)		probably null	Het
Pkhd1l1	A	T	15: 44,388,638 (GRCm39)	I1332F	probably benign	Het
Polq	T	C	16: 36,906,954 (GRCm39)	V2026A	possibly damaging	Het
Pomt2	G	T	12: 87,182,370 (GRCm39)	A219D	probably damaging	Het
Ppp4r4	T	A	12: 103,571,294 (GRCm39)	Y678N	possibly damaging	Het
Rpf2	T	C	10: 40,109,154 (GRCm39)	D95G	possibly damaging	Het
Sema3c	A	T	5: 17,932,464 (GRCm39)	K656*	probably null	Het
Sema4b	A	T	7: 79,866,540 (GRCm39)	S207C	probably damaging	Het
Snap25	G	A	2: 136,619,305 (GRCm39)	V153M	probably damaging	Het
Snrnp70	T	C	7: 45,026,786 (GRCm39)		probably null	Het
Tas2r144	C	T	6: 42,193,004 (GRCm39)	T248I	probably benign	Het
Trpv4	C	T	5: 114,761,687 (GRCm39)	V814M	probably benign	Het
Vmn1r192	G	T	13: 22,371,764 (GRCm39)	A152E	probably benign	Het
Vmn1r91	A	T	7: 19,835,698 (GRCm39)	S206C	probably damaging	Het
Vps36	T	C	8: 22,703,578 (GRCm39)		probably null	Het
Wdfy3	T	C	5: 102,065,301 (GRCm39)	N1289S	probably benign	Het
Zfp759	T	C	13: 67,287,276 (GRCm39)	C276R	probably damaging	Het
Zkscan17	G	A	11: 59,378,455 (GRCm39)	Q243*	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
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'- ACTTCAGTTGCTGGCAATGG -3'
(R):5'- ACACTAACGAGCTGTCAGC -3'

Sequencing Primer
(F):5'- GGCTGTTTAGGTGAAGTACAAAC -3'
(R):5'- GCTGTCAGCTGTAGAGAAGG -3'

Posted On

2014-06-30