Mutagenetix > Incidental Mutation

Incidental Mutation 'R2078:Usp17la'

229281

Institutional Source

Beutler Lab

Gene Symbol

Usp17la

Ensembl Gene

ENSMUSG00000054568

Gene Name

ubiquitin specific peptidase 17-like A

Synonyms

Dub1

MMRRC Submission

040083-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R2078 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104506223-104511874 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to T at 104508600 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 1 (M1L)

Ref Sequence

ENSEMBL: ENSMUSP00000068997 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067695]

AlphaFold

Q61068

Predicted Effect

probably benign
Transcript: ENSMUST00000067695
AA Change: M1L

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000068997
Gene: ENSMUSG00000054568
AA Change: M1L

Domain	Start	End	E-Value	Type
Pfam:UCH	50	345	3.3e-53	PFAM
Pfam:UCH_1	51	328	1.1e-24	PFAM
low complexity region	374	385	N/A	INTRINSIC
low complexity region	505	521	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb6	C	A	1: 75,148,780 (GRCm39)	G55C	probably damaging	Het
Acss3	T	C	10: 106,802,902 (GRCm39)	T448A	possibly damaging	Het
Atxn7	A	G	14: 14,052,975 (GRCm38)	N138D	probably damaging	Het
Cacna2d4	A	T	6: 119,315,077 (GRCm39)	D869V	probably benign	Het
Cps1	T	G	1: 67,196,965 (GRCm39)	Y339D	probably damaging	Het
Cps1	T	C	1: 67,234,424 (GRCm39)	I937T	possibly damaging	Het
Dlgap4	T	C	2: 156,604,746 (GRCm39)	S261P	probably damaging	Het
Dusp6	T	C	10: 99,099,686 (GRCm39)	Y45H	probably damaging	Het
Ebag9	A	G	15: 44,500,200 (GRCm39)	N157S	probably damaging	Het
Exoc4	A	G	6: 33,887,522 (GRCm39)	D770G	probably benign	Het
Ezr	A	G	17: 7,050,041 (GRCm39)	M1T	probably null	Het
Fat4	A	G	3: 38,943,822 (GRCm39)	N905S	probably damaging	Het
Fcrlb	C	G	1: 170,735,650 (GRCm39)	R208P	probably damaging	Het
Flnb	T	C	14: 7,927,466 (GRCm38)	V1892A	probably damaging	Het
Gas2	G	A	7: 51,547,073 (GRCm39)	V75M	probably benign	Het
Gda	T	A	19: 21,378,036 (GRCm39)	D267V	probably damaging	Het
Gper1	A	T	5: 139,411,888 (GRCm39)	I78F	probably benign	Het
Hectd1	A	C	12: 51,795,325 (GRCm39)	I2368S	probably damaging	Het
Katna1	C	T	10: 7,619,333 (GRCm39)	P114S	probably benign	Het
Lce3c	G	A	3: 92,852,758 (GRCm39)	S73N	unknown	Het
Lrfn3	A	T	7: 30,059,879 (GRCm39)	D115E	possibly damaging	Het
Lrrc47	C	A	4: 154,103,888 (GRCm39)	T505K	probably damaging	Het
Mertk	C	T	2: 128,636,378 (GRCm39)	T784I	probably damaging	Het
Mettl21e	T	A	1: 44,245,662 (GRCm39)	I195F	possibly damaging	Het
Mff	T	C	1: 82,719,642 (GRCm39)	S207P	probably damaging	Het
Mtmr6	A	G	14: 60,529,436 (GRCm39)		probably null	Het
Myh9	T	C	15: 77,648,112 (GRCm39)	K1788R	probably benign	Het
Narf	A	G	11: 121,136,220 (GRCm39)	T199A	probably benign	Het
Neurod6	A	G	6: 55,655,954 (GRCm39)	S228P	probably benign	Het
Notch4	A	T	17: 34,787,689 (GRCm39)		probably null	Het
Nyap2	T	C	1: 81,169,696 (GRCm39)	L151P	probably damaging	Het
Or5b21	T	A	19: 12,839,751 (GRCm39)	V204E	probably benign	Het
P2ry1	A	G	3: 60,911,118 (GRCm39)	I86V	probably damaging	Het
Pafah1b2	G	T	9: 45,880,127 (GRCm39)	D183E	probably damaging	Het
Phldb1	T	C	9: 44,619,276 (GRCm39)	E179G	probably damaging	Het
Piezo2	T	C	18: 63,250,791 (GRCm39)	E436G	probably damaging	Het
Pkhd1l1	A	G	15: 44,391,163 (GRCm39)	I1514V	probably benign	Het
Plch1	A	G	3: 63,609,364 (GRCm39)	S948P	probably benign	Het
Rfc5	A	G	5: 117,518,868 (GRCm39)	V296A	probably benign	Het
Rnf150	A	T	8: 83,730,234 (GRCm39)	I255F	probably damaging	Het
Rsbn1	A	G	3: 103,868,839 (GRCm39)	D626G	probably damaging	Het
Sfswap	A	G	5: 129,593,171 (GRCm39)	D346G	possibly damaging	Het
Slc38a11	A	T	2: 65,160,728 (GRCm39)	F289I	possibly damaging	Het
Terf2ip	A	G	8: 112,742,035 (GRCm39)	N243S	probably benign	Het
Tmed5	A	T	5: 108,272,471 (GRCm39)	V209E	probably damaging	Het
Tmem63b	A	G	17: 45,974,462 (GRCm39)	S603P	possibly damaging	Het
Tomm20	T	C	8: 127,663,822 (GRCm39)	M121V	possibly damaging	Het
Tspan33	G	A	6: 29,709,970 (GRCm39)	V45I	probably benign	Het
Vsig8	C	A	1: 172,390,856 (GRCm39)	D301E	probably benign	Het
Vwa8	T	A	14: 79,145,597 (GRCm39)	H91Q	probably damaging	Het

Other mutations in Usp17la

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01287:Usp17la	APN	7	104,510,522 (GRCm39)	missense	probably benign	0.04
IGL01482:Usp17la	APN	7	104,508,600 (GRCm39)	start codon destroyed	probably benign	0.28
IGL02236:Usp17la	APN	7	104,510,353 (GRCm39)	nonsense	probably null
IGL03239:Usp17la	APN	7	104,509,827 (GRCm39)	missense	possibly damaging	0.69
R0512:Usp17la	UTSW	7	104,510,246 (GRCm39)	missense	possibly damaging	0.50
R1632:Usp17la	UTSW	7	104,510,118 (GRCm39)	missense	probably benign	0.02
R1828:Usp17la	UTSW	7	104,510,331 (GRCm39)	missense	probably damaging	1.00
R1918:Usp17la	UTSW	7	104,509,953 (GRCm39)	missense	probably benign	0.11
R1976:Usp17la	UTSW	7	104,509,527 (GRCm39)	missense	possibly damaging	0.81
R2058:Usp17la	UTSW	7	104,510,378 (GRCm39)	missense	probably damaging	1.00
R2059:Usp17la	UTSW	7	104,510,378 (GRCm39)	missense	probably damaging	1.00
R2197:Usp17la	UTSW	7	104,509,919 (GRCm39)	missense	probably damaging	1.00
R3610:Usp17la	UTSW	7	104,510,279 (GRCm39)	missense	probably damaging	1.00
R3684:Usp17la	UTSW	7	104,510,937 (GRCm39)	missense	possibly damaging	0.96
R4480:Usp17la	UTSW	7	104,509,897 (GRCm39)	missense	probably benign	0.15
R4633:Usp17la	UTSW	7	104,509,428 (GRCm39)	missense	possibly damaging	0.92
R4701:Usp17la	UTSW	7	104,509,856 (GRCm39)	nonsense	probably null
R4907:Usp17la	UTSW	7	104,510,355 (GRCm39)	missense	probably damaging	1.00
R5057:Usp17la	UTSW	7	104,510,330 (GRCm39)	missense	possibly damaging	0.95
R5091:Usp17la	UTSW	7	104,510,139 (GRCm39)	missense	probably damaging	0.99
R5313:Usp17la	UTSW	7	104,510,457 (GRCm39)	missense	probably benign	0.00
R6269:Usp17la	UTSW	7	104,509,557 (GRCm39)	missense	possibly damaging	0.82
R7054:Usp17la	UTSW	7	104,510,514 (GRCm39)	missense	probably benign	0.38
R7395:Usp17la	UTSW	7	104,510,792 (GRCm39)	missense	probably benign	0.30
R7570:Usp17la	UTSW	7	104,509,604 (GRCm39)	missense	probably damaging	1.00
R7633:Usp17la	UTSW	7	104,510,354 (GRCm39)	missense	probably damaging	1.00
R7641:Usp17la	UTSW	7	104,510,654 (GRCm39)	nonsense	probably null
R7674:Usp17la	UTSW	7	104,510,654 (GRCm39)	nonsense	probably null
R8098:Usp17la	UTSW	7	104,510,138 (GRCm39)	missense	probably damaging	1.00
R8933:Usp17la	UTSW	7	104,510,307 (GRCm39)	missense	probably benign	0.07
R9416:Usp17la	UTSW	7	104,508,531 (GRCm39)	start gained	probably benign
R9739:Usp17la	UTSW	7	104,510,736 (GRCm39)	missense	possibly damaging	0.60
R9786:Usp17la	UTSW	7	104,510,864 (GRCm39)	missense	probably benign	0.32
X0062:Usp17la	UTSW	7	104,510,685 (GRCm39)	missense	probably damaging	0.99
Z1177:Usp17la	UTSW	7	104,510,233 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCACTCCAAAGAGATGACATTTC -3'
(R):5'- ACCTCTTAGAAGGGCAGAGC -3'

Sequencing Primer
(F):5'- CACCCAAATTGTGAGAGGCTTGTC -3'
(R):5'- GAGCAGCCCCTTTGTCAAC -3'

Posted On

2014-09-17