Mutagenetix > Incidental Mutation

Incidental Mutation 'R6111:Usp38'

484844

Institutional Source

Beutler Lab

Gene Symbol

Usp38

Ensembl Gene

ENSMUSG00000038250

Gene Name

ubiquitin specific peptidase 38

Synonyms

4833420O05Rik, 4631402N15Rik

MMRRC Submission

044260-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6111 (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 81740551 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 172 (V172A)

Ref Sequence

ENSEMBL: ENSMUSP00000039943 (fasta)

Gene Model

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

AlphaFold

Q8BW70

Predicted Effect

probably damaging
Transcript: ENSMUST00000042724
AA Change: V172A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000039943
Gene: ENSMUSG00000038250
AA Change: V172A

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: ENSMUST00000123595

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166229

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209272

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211538

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.2%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	G	13: 77,476,021 (GRCm39)	E1110G	possibly damaging	Het
Abcd4	G	A	12: 84,661,888 (GRCm39)	T79I	probably damaging	Het
Acd	A	G	8: 106,424,919 (GRCm39)	M407T	probably benign	Het
Adcy2	T	A	13: 68,877,360 (GRCm39)	H460L	probably damaging	Het
Atad2	G	A	15: 57,971,487 (GRCm39)	H752Y	probably benign	Het
Bmal2	T	C	6: 146,722,097 (GRCm39)	F223L	probably benign	Het
Camsap2	A	G	1: 136,209,036 (GRCm39)	S819P	probably benign	Het
Col24a1	C	A	3: 145,019,815 (GRCm39)	T62K	probably damaging	Het
Cpne6	G	A	14: 55,752,091 (GRCm39)	V283M	probably benign	Het
D630003M21Rik	A	G	2: 158,055,368 (GRCm39)	S590P	probably damaging	Het
Daam1	T	A	12: 71,989,038 (GRCm39)	M146K	unknown	Het
Dclk2	A	G	3: 86,712,968 (GRCm39)	Y495H	probably benign	Het
Ddx4	A	T	13: 112,757,766 (GRCm39)	C330*	probably null	Het
Dlec1	T	C	9: 118,931,692 (GRCm39)	L37P	possibly damaging	Het
Dock2	G	A	11: 34,599,614 (GRCm39)	P322S	probably damaging	Het
Espl1	A	G	15: 102,208,323 (GRCm39)	E443G	probably damaging	Het
Eya4	T	A	10: 23,015,953 (GRCm39)	D338V	possibly damaging	Het
Fcmr	A	G	1: 130,805,566 (GRCm39)	I267V	probably damaging	Het
Gfra3	T	A	18: 34,823,927 (GRCm39)	H349L	probably damaging	Het
Gm25747	A	G	12: 113,392,703 (GRCm39)		probably benign	Het
Gria4	G	A	9: 4,502,430 (GRCm39)	R368C	probably damaging	Het
H2-Q5	A	T	17: 35,613,885 (GRCm39)	I145F	possibly damaging	Het
Hace1	A	T	10: 45,465,606 (GRCm39)	K54I	possibly damaging	Het
Ift122	T	A	6: 115,852,247 (GRCm39)	I79N	probably damaging	Het
Ino80b	A	G	6: 83,101,347 (GRCm39)	V121A	probably damaging	Het
Kcnq1	A	G	7: 142,661,474 (GRCm39)	T63A	probably benign	Het
Map4k4	C	A	1: 40,050,822 (GRCm39)	Q762K	probably benign	Het
Mios	G	A	6: 8,214,836 (GRCm39)	A11T	probably benign	Het
Nfatc1	A	G	18: 80,741,125 (GRCm39)	S278P	probably damaging	Het
Notch2	T	C	3: 98,053,609 (GRCm39)	S2091P	probably benign	Het
Nudt19	T	A	7: 35,254,952 (GRCm39)	D93V	probably benign	Het
Or8b12b	T	C	9: 37,684,228 (GRCm39)	I91T	probably damaging	Het
Osbpl2	A	G	2: 179,791,994 (GRCm39)	T233A	probably benign	Het
P3h1	C	T	4: 119,098,329 (GRCm39)	R369*	probably null	Het
Pcdhb3	A	T	18: 37,435,242 (GRCm39)	I403L	probably benign	Het
Pigo	T	C	4: 43,019,724 (GRCm39)	D935G	probably benign	Het
Plpp1	A	G	13: 113,003,451 (GRCm39)	H224R	probably damaging	Het
Rai1	T	A	11: 60,078,732 (GRCm39)	M932K	probably damaging	Het
Rexo2	A	T	9: 48,384,412 (GRCm39)	F122L	probably damaging	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Sdc3	A	G	4: 130,546,153 (GRCm39)	T77A	unknown	Het
Skint5	T	C	4: 113,562,845 (GRCm39)	T786A	unknown	Het
Smok3c	C	A	5: 138,063,365 (GRCm39)	P284Q	probably damaging	Het
Spg11	A	G	2: 121,923,963 (GRCm39)	V786A	probably damaging	Het
Tmem273	T	C	14: 32,528,755 (GRCm39)	I40T	possibly damaging	Het
Tnfrsf10b	T	A	14: 70,020,007 (GRCm39)	C380S	possibly damaging	Het
Tsen54	T	C	11: 115,710,956 (GRCm39)	V176A	possibly damaging	Het
Ttll4	A	T	1: 74,736,698 (GRCm39)	K1141M	possibly damaging	Het
Ttpa	A	T	4: 20,014,772 (GRCm39)	I116F	probably damaging	Het
Tubgcp6	T	C	15: 88,985,123 (GRCm39)	D1655G	possibly damaging	Het
Vmn2r73	A	G	7: 85,520,997 (GRCm39)	S324P	probably benign	Het
Wdr72	T	C	9: 74,117,607 (GRCm39)	M773T	probably benign	Het
Xirp2	T	A	2: 67,342,161 (GRCm39)	H1467Q	possibly damaging	Het
Zdhhc8	G	T	16: 18,042,762 (GRCm39)	S479R	probably damaging	Het
Zfp423	A	G	8: 88,509,315 (GRCm39)	V322A	probably damaging	Het
Zfp87	T	G	13: 74,520,504 (GRCm39)	E191D	probably benign	Het
Zfp933	T	C	4: 147,913,217 (GRCm39)	T14A	probably damaging	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
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'- TGTGTTGATGAGACACACGTG -3'
(R):5'- TGATTATGAGCTGCCCGTCG -3'

Sequencing Primer
(F):5'- GAGACACACGTGTTGAATTTCC -3'
(R):5'- GGTGCTGGATCTCTTCAGCC -3'

Posted On

2017-08-16