Mutagenetix > Incidental Mutation

Incidental Mutation 'R8795:Usp35'

671198

Institutional Source

Beutler Lab

Gene Symbol

Usp35

Ensembl Gene

ENSMUSG00000035713

Gene Name

ubiquitin specific peptidase 35

Synonyms

LOC244144, LOC381901

MMRRC Submission

068636-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R8795 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

96958587-96981227 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 96961167 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 753 (V753A)

Ref Sequence

ENSEMBL: ENSMUSP00000137726 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004622] [ENSMUST00000139582] [ENSMUST00000168435]

AlphaFold

M0QWN7

Predicted Effect

probably benign
Transcript: ENSMUST00000004622

SMART Domains

Protein: ENSMUSP00000004622
Gene: ENSMUSG00000004508

Domain	Start	End	E-Value	Type
PH	9	121	1.07e-22	SMART
Blast:PH	268	314	4e-11	BLAST
low complexity region	348	355	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000139582
AA Change: V753A

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000137726
Gene: ENSMUSG00000035713
AA Change: V753A

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

possibly damaging
Transcript: ENSMUST00000168435
AA Change: V753A

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000137927
Gene: ENSMUSG00000035713
AA Change: V753A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

97% (72/74)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	A	T	17: 45,818,598 (GRCm39)	M128L	probably damaging	Het
Abcc12	A	G	8: 87,258,213 (GRCm39)	S768P	possibly damaging	Het
Adamts8	A	T	9: 30,854,484 (GRCm39)	M118L	probably benign	Het
Adgrl4	A	G	3: 151,216,416 (GRCm39)	N533S	probably benign	Het
Agk	T	G	6: 40,363,854 (GRCm39)	I278R	possibly damaging	Het
Atr	T	A	9: 95,749,584 (GRCm39)	W466R	probably damaging	Het
Cacna1h	C	T	17: 25,612,538 (GRCm39)	V387I	probably damaging	Het
Cand2	T	G	6: 115,763,889 (GRCm39)	D270E	probably benign	Het
Ccdc107	C	T	4: 43,495,514 (GRCm39)	T139M	probably damaging	Het
Cenpl	A	G	1: 160,910,584 (GRCm39)	E177G	probably benign	Het
Clint1	C	A	11: 45,775,178 (GRCm39)	Q56K	probably damaging	Het
Col9a1	A	G	1: 24,233,812 (GRCm39)	R249G	unknown	Het
Cpne5	C	T	17: 29,423,662 (GRCm39)		probably benign	Het
Ddx27	A	G	2: 166,859,730 (GRCm39)	D54G	probably benign	Het
Dync2h1	C	T	9: 7,137,087 (GRCm39)	E1468K	probably benign	Het
E130308A19Rik	A	T	4: 59,737,676 (GRCm39)	N429I	possibly damaging	Het
Endov	G	T	11: 119,390,380 (GRCm39)	G86C	possibly damaging	Het
Ercc5	A	T	1: 44,203,089 (GRCm39)	Y242F	possibly damaging	Het
Gabrr1	T	A	4: 33,161,756 (GRCm39)	V360E	probably damaging	Het
Gcn1	T	C	5: 115,752,454 (GRCm39)	I2153T	probably benign	Het
Gje1	T	C	10: 14,593,870 (GRCm39)	N8S	probably benign	Het
Greb1l	A	G	18: 10,553,739 (GRCm39)	H1580R	probably damaging	Het
Grin1	C	G	2: 25,187,468 (GRCm39)	S614T	probably damaging	Het
Hmcn2	A	G	2: 31,315,393 (GRCm39)	N3714S	probably benign	Het
Idh1	CA	CAA	1: 65,204,347 (GRCm39)		probably null	Het
Ifitm2	A	T	7: 140,535,661 (GRCm39)	H56Q	probably damaging	Het
Ifrd1	G	A	12: 40,263,076 (GRCm39)	T218I	possibly damaging	Het
Igkv1-99	G	T	6: 68,519,370 (GRCm39)	G109V		Het
Impg2	A	G	16: 56,080,611 (GRCm39)	E805G	probably benign	Het
Itgb6	T	A	2: 60,483,629 (GRCm39)	N260Y	probably damaging	Het
Maneal	G	T	4: 124,750,483 (GRCm39)	Y424*	probably null	Het
Map4k2	T	G	19: 6,401,640 (GRCm39)	C677W	probably damaging	Het
Med6	T	C	12: 81,638,034 (GRCm39)	H59R	probably benign	Het
Mms22l	T	A	4: 24,536,245 (GRCm39)	D571E	probably benign	Het
Mroh8	A	G	2: 157,067,493 (GRCm39)	F622S	probably damaging	Het
Mrpl44	A	T	1: 79,753,974 (GRCm39)	Q42L	probably damaging	Het
Myh8	G	T	11: 67,174,203 (GRCm39)		probably benign	Het
Ndufb2	T	C	6: 39,569,586 (GRCm39)	V13A	probably benign	Het
Nf1	T	A	11: 79,316,442 (GRCm39)	L499Q	probably damaging	Het
Opa1	T	C	16: 29,448,450 (GRCm39)	C874R	probably damaging	Het
Or1i2	T	C	10: 78,447,698 (GRCm39)	Y259C	probably damaging	Het
Or4c99	T	G	2: 88,329,855 (GRCm39)	V142G	probably damaging	Het
Or4k37	T	A	2: 111,158,881 (GRCm39)	L39*	probably null	Het
Or6c6	T	C	10: 129,187,194 (GRCm39)	I254T	probably damaging	Het
Pld3	T	A	7: 27,235,286 (GRCm39)	D314V	possibly damaging	Het
Pou6f1	A	C	15: 100,485,686 (GRCm39)	C114W	possibly damaging	Het
Prl2c1	A	C	13: 28,033,389 (GRCm39)	Q2P	possibly damaging	Het
Prl2c1	G	T	13: 28,033,390 (GRCm39)	Q2H	probably benign	Het
Pzp	C	A	6: 128,471,701 (GRCm39)	K908N	probably damaging	Het
Rab6b	G	A	9: 103,039,825 (GRCm39)	G125D	probably damaging	Het
Rhbdd2	C	T	5: 135,663,985 (GRCm39)	T69I	probably benign	Het
Samd9l	A	T	6: 3,374,221 (GRCm39)	Y1013*	probably null	Het
Slc13a4	T	A	6: 35,260,230 (GRCm39)	T217S	probably benign	Het
Slc66a3	A	G	12: 17,043,481 (GRCm39)	W150R	probably damaging	Het
Smarcad1	T	C	6: 65,049,033 (GRCm39)	L253S	probably benign	Het
Snrpa	C	A	7: 26,891,034 (GRCm39)	V146L	possibly damaging	Het
Spata31f1e	A	G	4: 42,792,992 (GRCm39)	V380A	probably benign	Het
Srrt	A	T	5: 137,298,238 (GRCm39)	D311E	probably benign	Het
Stk32b	A	T	5: 37,806,483 (GRCm39)	F20L	probably damaging	Het
Sult2a7	T	C	7: 14,224,014 (GRCm39)	T136A	probably benign	Het
Sv2a	G	A	3: 96,094,396 (GRCm39)	V244I	probably benign	Het
Tesk1	T	A	4: 43,446,070 (GRCm39)		probably null	Het
Tmem260	A	G	14: 48,689,370 (GRCm39)	H63R	probably damaging	Het
Ugt1a6b	A	G	1: 88,034,794 (GRCm39)	E44G	probably benign	Het
Unc79	A	T	12: 103,074,513 (GRCm39)	I1363F	probably damaging	Het
Usp15	T	A	10: 122,988,953 (GRCm39)	N255Y	probably benign	Het
Vmn2r104	T	A	17: 20,262,988 (GRCm39)	I158L	probably benign	Het
Vmn2r69	A	T	7: 85,064,883 (GRCm39)	M1K	probably null	Het
Zan	C	T	5: 137,396,522 (GRCm39)	E4345K	unknown	Het
Zc3h7a	A	T	16: 10,965,147 (GRCm39)	M662K	possibly damaging	Het
Zfp512	G	A	5: 31,634,134 (GRCm39)	V438M	probably damaging	Het
Zfy1	T	C	Y: 738,945 (GRCm39)	D87G	unknown	Het
Zmym4	A	T	4: 126,799,819 (GRCm39)	V653E	probably benign	Het

Other mutations in Usp35

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03239:Usp35	APN	7	96,970,799 (GRCm39)	missense	possibly damaging	0.62
R0046:Usp35	UTSW	7	96,962,804 (GRCm39)	splice site	probably null
R0046:Usp35	UTSW	7	96,962,804 (GRCm39)	splice site	probably null
R0739:Usp35	UTSW	7	96,960,874 (GRCm39)	nonsense	probably null
R2655:Usp35	UTSW	7	96,961,354 (GRCm39)	missense	probably benign
R3623:Usp35	UTSW	7	96,961,827 (GRCm39)	missense	probably damaging	1.00
R4750:Usp35	UTSW	7	96,959,546 (GRCm39)	missense	possibly damaging	0.85
R4967:Usp35	UTSW	7	96,962,782 (GRCm39)	missense	probably damaging	1.00
R5317:Usp35	UTSW	7	96,960,846 (GRCm39)	missense	probably damaging	0.99
R5341:Usp35	UTSW	7	96,975,134 (GRCm39)	missense	probably damaging	1.00
R5761:Usp35	UTSW	7	96,961,558 (GRCm39)	missense	probably benign	0.00
R5894:Usp35	UTSW	7	96,962,284 (GRCm39)	missense	probably damaging	1.00
R6113:Usp35	UTSW	7	96,973,533 (GRCm39)	missense	probably damaging	1.00
R6282:Usp35	UTSW	7	96,975,155 (GRCm39)	missense	probably damaging	1.00
R6454:Usp35	UTSW	7	96,960,851 (GRCm39)	nonsense	probably null
R6454:Usp35	UTSW	7	96,960,767 (GRCm39)	missense	probably damaging	0.98
R7142:Usp35	UTSW	7	96,960,754 (GRCm39)	missense	probably damaging	0.97
R7158:Usp35	UTSW	7	96,975,171 (GRCm39)	start codon destroyed	probably null	0.89
R7260:Usp35	UTSW	7	96,969,286 (GRCm39)	missense	probably damaging	0.98
R8270:Usp35	UTSW	7	96,961,551 (GRCm39)	missense	probably benign
R8275:Usp35	UTSW	7	96,964,026 (GRCm39)	missense	probably damaging	1.00
R8795:Usp35	UTSW	7	96,961,270 (GRCm39)	missense	probably benign
R9198:Usp35	UTSW	7	96,962,276 (GRCm39)	missense	probably damaging	1.00
RF003:Usp35	UTSW	7	96,971,303 (GRCm39)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- GTGACATCGTCCAGGATCTTAC -3'
(R):5'- TGTGGACACCATAGGCACTG -3'

Sequencing Primer
(F):5'- TCCAGGATCTTACGCCGC -3'
(R):5'- ACACCATAGGCACTGGTGGAC -3'

Posted On

2021-04-30