Mutagenetix > Incidental Mutations

Incidental Mutation 'R6113:Usp35'

484956

Institutional Source

Beutler Lab

Gene Symbol

Usp35

Ensembl Gene

ENSMUSG00000035713

Gene Name

ubiquitin specific peptidase 35

Synonyms

LOC381901, LOC244144

MMRRC Submission

044262-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R6113 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

97309380-97332020 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 97324326 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 230 (S230P)

Ref Sequence

ENSEMBL: ENSMUSP00000137927 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000139582] [ENSMUST00000168435]

Predicted Effect

probably damaging
Transcript: ENSMUST00000139582
AA Change: S230P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000137726
Gene: ENSMUSG00000035713
AA Change: S230P

Domain	Start	End	E-Value	Type
low complexity region	86	102	N/A	INTRINSIC
Pfam:UCH	440	915	5.2e-50	PFAM
Pfam:UCH_1	441	890	1.5e-29	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000168435
AA Change: S230P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000137927
Gene: ENSMUSG00000035713
AA Change: S230P

Domain	Start	End	E-Value	Type
low complexity region	86	102	N/A	INTRINSIC
Pfam:UCH	440	915	7.1e-48	PFAM
Pfam:UCH_1	441	890	7.4e-26	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181354

Meta Mutation Damage Score

0.1206

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 94.1%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	C	A	16: 8,572,900	T7N	probably benign	Het
Aldh1l2	G	T	10: 83,508,134	C359*	probably null	Het
Bpifb6	G	A	2: 153,910,731	E384K	probably benign	Het
Chtf18	G	A	17: 25,722,867	R544C	probably damaging	Het
Cilp2	T	C	8: 69,882,359	D663G	probably benign	Het
Cplx3	T	A	9: 57,602,440	I92F	probably damaging	Het
Cr1l	T	C	1: 195,131,411		probably benign	Het
Cyp1a1	T	A	9: 57,701,891	F323I	probably damaging	Het
Dclk1	T	C	3: 55,489,819	Y186H	probably benign	Het
Dclre1c	T	C	2: 3,452,863	L261P	probably damaging	Het
Dcst2	T	C	3: 89,367,885	S312P	possibly damaging	Het
Diexf	T	C	1: 193,129,502	I46V	probably null	Het
Dnah17	A	G	11: 118,126,275	L213P	probably damaging	Het
Dnd1	T	A	18: 36,765,395	Y102F	probably damaging	Het
Dnm1l	T	C	16: 16,341,003	N121S	probably benign	Het
Dsp	T	A	13: 38,192,047	N1269K	probably damaging	Het
Dync1h1	T	C	12: 110,620,414	V943A	probably benign	Het
Eml5	T	A	12: 98,824,674	K1322*	probably null	Het
Fam173b	T	C	15: 31,608,162	Y120H	probably damaging	Het
Fgf23	A	G	6: 127,078,154	T76A	probably benign	Het
Fgf6	T	C	6: 127,015,937		probably null	Het
Fkbp15	G	A	4: 62,340,647	T124I	probably benign	Het
Gm12185	A	T	11: 48,915,340	H341Q	possibly damaging	Het
Gm20647	A	G	5: 72,329,800		probably benign	Het
Lrp2	G	C	2: 69,483,557	R2277G	possibly damaging	Het
Lrrc69	T	C	4: 14,708,673	T224A	probably benign	Het
Ly75	T	G	2: 60,368,873	I175L	probably benign	Het
Morc2b	G	T	17: 33,138,068	Y243*	probably null	Het
Myo18b	C	G	5: 112,866,385	D764H	probably damaging	Het
Naip6	T	C	13: 100,299,286	S910G	possibly damaging	Het
Nbeal1	T	A	1: 60,222,263	I21N	possibly damaging	Het
P3h2	A	T	16: 25,981,153	I430K	probably benign	Het
Pcdh9	A	G	14: 93,887,108	V542A	probably damaging	Het
Pkp3	T	A	7: 141,082,656	N60K	probably damaging	Het
Pold1	C	A	7: 44,537,700	G686C	probably damaging	Het
Prdm6	T	A	18: 53,473,601	L58Q	probably damaging	Het
Rab13	C	A	3: 90,224,866	R86S	probably benign	Het
Rad21l	A	C	2: 151,657,478	L265V	probably damaging	Het
Rec8	G	A	14: 55,622,478	A228T	probably damaging	Het
Rgs12	C	A	5: 35,020,323	R76S	probably damaging	Het
Sfmbt1	A	G	14: 30,815,184	N670D	possibly damaging	Het
Slc17a7	A	G	7: 45,174,751	T464A	possibly damaging	Het
Srcap	C	A	7: 127,560,281		probably benign	Het
Srgap2	A	T	1: 131,355,505		probably null	Het
Tenm1	C	T	X: 42,827,195	G404E	probably damaging	Het
Thpo	C	A	16: 20,728,847		probably benign	Het
Tle4	A	T	19: 14,595,588		probably null	Het
Tnfrsf14	T	C	4: 154,924,492	Q74R	possibly damaging	Het
Trav15-2-dv6-2	T	G	14: 53,649,725	V34G	probably benign	Het
Trbv13-1	C	T	6: 41,116,379	A82V	probably benign	Het
Trib1	C	T	15: 59,651,638	R174*	probably null	Het
Trpv3	G	A	11: 73,286,018	V408I	probably benign	Het
Tyk2	A	T	9: 21,107,922	V1068E	probably damaging	Het
Vav1	T	A	17: 57,301,884	D349E	probably benign	Het
Vcan	T	A	13: 89,657,536	R114*	probably null	Het
Vmn1r25	T	C	6: 57,978,572	E244G	probably benign	Het
Vmn2r5	T	C	3: 64,491,399	T720A	probably benign	Het
Wdr72	T	A	9: 74,152,641	D444E	probably benign	Het
Zfhx3	T	A	8: 108,947,421	M1701K	probably benign	Het

Other mutations in Usp35

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03239:Usp35	APN	7	97321592	missense	possibly damaging	0.62
R0046:Usp35	UTSW	7	97313597	splice site	probably null
R0046:Usp35	UTSW	7	97313597	splice site	probably null
R0739:Usp35	UTSW	7	97311667	nonsense	probably null
R2655:Usp35	UTSW	7	97312147	missense	probably benign
R3623:Usp35	UTSW	7	97312620	missense	probably damaging	1.00
R4750:Usp35	UTSW	7	97310339	missense	possibly damaging	0.85
R4967:Usp35	UTSW	7	97313575	missense	probably damaging	1.00
R5317:Usp35	UTSW	7	97311639	missense	probably damaging	0.99
R5341:Usp35	UTSW	7	97325927	missense	probably damaging	1.00
R5761:Usp35	UTSW	7	97312351	missense	probably benign	0.00
R5894:Usp35	UTSW	7	97313077	missense	probably damaging	1.00
R6282:Usp35	UTSW	7	97325948	missense	probably damaging	1.00
R6454:Usp35	UTSW	7	97311560	missense	probably damaging	0.98
R6454:Usp35	UTSW	7	97311644	nonsense	probably null
R7142:Usp35	UTSW	7	97311547	missense	probably damaging	0.97
R7158:Usp35	UTSW	7	97325964	start codon destroyed	probably null	0.89
R7260:Usp35	UTSW	7	97320079	missense	probably damaging	0.98
R8270:Usp35	UTSW	7	97312344	missense	probably benign
R8275:Usp35	UTSW	7	97314819	missense	probably damaging	1.00
RF003:Usp35	UTSW	7	97322096	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- ATGAGCCTGACCTCTAACCG -3'
(R):5'- GCTCCAGCATGAACTCTTCC -3'

Sequencing Primer
(F):5'- TGACCTCTAACCGCTGACAG -3'
(R):5'- AAGGGTTTCTGTTTACACGCACAG -3'

Posted On

2017-08-16