Mutagenetix > Incidental Mutation

Incidental Mutation 'RF003:Usp35'

602628

Institutional Source

Beutler Lab

Gene Symbol

Usp35

Ensembl Gene

ENSMUSG00000035713

Gene Name

ubiquitin specific peptidase 35

Synonyms

LOC381901, LOC244144

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

RF003 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

97309380-97332020 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97322096 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 297 (K297E)

Ref Sequence

ENSEMBL: ENSMUSP00000137726 (fasta)

Gene Model

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

AlphaFold

M0QWN7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000139582
AA Change: K297E

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000137726
Gene: ENSMUSG00000035713
AA Change: K297E

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: K297E

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000137927
Gene: ENSMUSG00000035713
AA Change: K297E

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: 99.8%
3x: 99.7%
10x: 99.2%
20x: 98.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	AACC	A	7: 40,993,055 (GRCm38)		probably benign	Het
A630073D07Rik	A	C	6: 132,627,443 (GRCm38)	L13R	unknown	Het
Alg9	GGC	GGCCGC	9: 50,775,427 (GRCm38)		probably benign	Het
Arc	G	C	15: 74,672,131 (GRCm38)	T81S	probably benign	Het
Atad5	A	T	11: 80,111,560 (GRCm38)	K1059N	probably damaging	Het
Bdp1	C	A	13: 100,060,449 (GRCm38)	V1143F	probably benign	Het
Bdp1	C	A	13: 100,060,450 (GRCm38)	Q1142H	probably benign	Het
Ccdc33	T	C	9: 58,058,291 (GRCm38)	S583G	probably benign	Het
Cd109	TTAT	TTATTTATTTATATAT	9: 78,712,531 (GRCm38)		probably benign	Het
Cep192	A	T	18: 67,837,956 (GRCm38)	R1009S	probably benign	Het
Clvs2	T	A	10: 33,622,925 (GRCm38)	H3L	probably damaging	Het
Cnot6	T	C	11: 49,702,613 (GRCm38)	M14V	probably benign	Het
Colec10	A	G	15: 54,462,391 (GRCm38)	R206G	possibly damaging	Het
Dennd6a	T	C	14: 26,629,534 (GRCm38)	I598T	probably damaging	Het
Dmrt2	T	C	19: 25,678,134 (GRCm38)	S366P	probably damaging	Het
Dnmt1	AGTTCCTACCTCGTT	AGTTCCTACCTCGTTTTGGGGGCGGAGCACCGTTCCTACCTCGTT	9: 20,910,131 (GRCm38)		probably null	Het
Efhb	T	C	17: 53,400,891 (GRCm38)	D748G	probably damaging	Het
Etl4	C	T	2: 20,519,918 (GRCm38)	Q21*	probably null	Het
Fam172a	A	T	13: 77,834,675 (GRCm38)	I135L	possibly damaging	Het
Fam71e1	C	CGGAGGGAGGAAGGCTGGATCCTGGATACCTGGGTA	7: 44,500,527 (GRCm38)		probably null	Het
Flywch1	CCACTCCTGGTGT	CCACTCCTGGTGTGGGGAGGCTACGTACTCACACACTCCTGGTGT	17: 23,762,166 (GRCm38)		probably null	Het
Fmn1	ACCTCC	ACCTCCCCCTCC	2: 113,525,786 (GRCm38)		probably benign	Het
Fsip2	T	A	2: 82,991,521 (GRCm38)	M5866K	probably benign	Het
Gab3	CTT	CTTATT	X: 75,000,006 (GRCm38)		probably null	Het
Gnl2	T	A	4: 125,043,725 (GRCm38)		probably null	Het
Grip2	C	T	6: 91,783,593 (GRCm38)	R341Q	probably benign	Het
Hmcn1	T	A	1: 150,624,561 (GRCm38)	H3960L	probably damaging	Het
Igkv6-25	T	A	6: 70,215,778 (GRCm38)	Y56*	probably null	Het
Il12a	A	T	3: 68,695,229 (GRCm38)	T102S	probably benign	Het
Il1a	T	A	2: 129,302,932 (GRCm38)	I189F	possibly damaging	Het
Inpp4b	T	A	8: 81,969,521 (GRCm38)	Y361*	probably null	Het
Iqcf4	CTTTTCCTTTTCCTTTT	CTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCATTTTCCTTTTCCTTTT	9: 106,570,607 (GRCm38)		probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,850,378 (GRCm38)		probably benign	Het
Las1l	AGTGG	AGTGGTGG	X: 95,940,816 (GRCm38)		probably benign	Het
Lrmp	AGCACATTG	AGCACATTGTGCACATTG	6: 145,173,783 (GRCm38)		probably benign	Het
Lrrc8d	T	C	5: 105,812,641 (GRCm38)	Y306H	probably damaging	Het
Mamld1	AGC	AGCCGC	X: 71,118,820 (GRCm38)		probably benign	Het
Map1a	CTCCAGCTCCAGCTCCAGCTCCA	CTCCAGCTCCAGCTCCAGCTCCAGCTCCAGATCCAGCTCCAGCTCCAGCTCCA	2: 121,306,296 (GRCm38)		probably benign	Het
Map1b	G	T	13: 99,430,750 (GRCm38)	A1821E	unknown	Het
Maz	A	G	7: 127,025,497 (GRCm38)	C284R	probably damaging	Het
Med23	A	G	10: 24,903,785 (GRCm38)	H920R	probably damaging	Het
Megf10	CCAGCAGCAGCAGCAGCAGCAG	CCAGCAGCAGCAGCAGCAG	18: 57,294,027 (GRCm38)		probably benign	Het
Mmp14	C	T	14: 54,439,014 (GRCm38)	R339*	probably null	Het
Mroh9	T	G	1: 163,058,061 (GRCm38)	K334T	probably damaging	Het
Nab1	A	T	1: 52,479,282 (GRCm38)	C320S	probably damaging	Het
Noto	T	C	6: 85,424,210 (GRCm38)	S74P	probably benign	Het
Nudt4	T	C	10: 95,549,374 (GRCm38)	N152D	possibly damaging	Het
Nup155	T	TTTTG	15: 8,119,176 (GRCm38)		probably benign	Het
Nusap1	AGCTGAGA	AGCTGAGATACACGTTAGCAGTGAGGAGCAGGCTGAGA	2: 119,627,603 (GRCm38)		probably benign	Het
Olfr118	A	C	17: 37,672,858 (GRCm38)	K278N	probably damaging	Het
Olfr330	CA	C	11: 58,529,157 (GRCm38)		probably null	Het
Olfr461	T	C	6: 40,544,362 (GRCm38)	I206V	probably benign	Het
Olfr585	GTTAT	GTTATTAT	7: 103,098,305 (GRCm38)			Het
Olfr585	TTA	TTAGTA	7: 103,098,306 (GRCm38)		probably null	Het
Olfr710	T	A	7: 106,944,648 (GRCm38)	M118L	probably damaging	Het
Olfr828	T	C	9: 18,815,482 (GRCm38)	T271A	probably benign	Het
Plxnc1	T	C	10: 94,794,444 (GRCm38)	Y1531C	probably damaging	Het
Pnmal2	TGA	TGAAGA	7: 16,946,016 (GRCm38)		probably benign	Het
Rp1	A	G	1: 4,344,694 (GRCm38)	V2065A	probably damaging	Het
Sbp	AAGATGCTGACAACA	AAGATGCTGACAACAGAGATGCTGACAACA	17: 23,945,369 (GRCm38)		probably benign	Het
Sepsecs	G	A	5: 52,647,191 (GRCm38)	T379M	probably benign	Het
Sfswap	GGCC	GGCCCACTCTGCC	5: 129,569,764 (GRCm38)		probably benign	Het
Six3	GCG	GCGTCG	17: 85,621,370 (GRCm38)		probably benign	Het
Tfeb	C	T	17: 47,788,078 (GRCm38)	T259I	possibly damaging	Het
Tgoln1	A	AAACTCAG	6: 72,616,352 (GRCm38)		probably null	Het
Tmem94	G	A	11: 115,796,132 (GRCm38)	V1108M	probably damaging	Het
Vcpkmt	T	A	12: 69,582,824 (GRCm38)	T55S	possibly damaging	Het
Zfp384	GCCCAGGCCCAGGCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG	6: 125,036,471 (GRCm38)		probably benign	Het
Zfp384	GCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAG	6: 125,036,483 (GRCm38)		probably benign	Het
Zfp384	GGCCC	GGCCCTGGCCCAAGCCC	6: 125,036,476 (GRCm38)		probably benign	Het
Zfp407	A	T	18: 84,209,563 (GRCm38)	S1974T	probably benign	Het
Zfp677	T	C	17: 21,397,442 (GRCm38)	S254P	probably damaging	Het

Other mutations in Usp35

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03239:Usp35	APN	7	97,321,592 (GRCm38)	missense	possibly damaging	0.62
R0046:Usp35	UTSW	7	97,313,597 (GRCm38)	splice site	probably null
R0046:Usp35	UTSW	7	97,313,597 (GRCm38)	splice site	probably null
R0739:Usp35	UTSW	7	97,311,667 (GRCm38)	nonsense	probably null
R2655:Usp35	UTSW	7	97,312,147 (GRCm38)	missense	probably benign
R3623:Usp35	UTSW	7	97,312,620 (GRCm38)	missense	probably damaging	1.00
R4750:Usp35	UTSW	7	97,310,339 (GRCm38)	missense	possibly damaging	0.85
R4967:Usp35	UTSW	7	97,313,575 (GRCm38)	missense	probably damaging	1.00
R5317:Usp35	UTSW	7	97,311,639 (GRCm38)	missense	probably damaging	0.99
R5341:Usp35	UTSW	7	97,325,927 (GRCm38)	missense	probably damaging	1.00
R5761:Usp35	UTSW	7	97,312,351 (GRCm38)	missense	probably benign	0.00
R5894:Usp35	UTSW	7	97,313,077 (GRCm38)	missense	probably damaging	1.00
R6113:Usp35	UTSW	7	97,324,326 (GRCm38)	missense	probably damaging	1.00
R6282:Usp35	UTSW	7	97,325,948 (GRCm38)	missense	probably damaging	1.00
R6454:Usp35	UTSW	7	97,311,644 (GRCm38)	nonsense	probably null
R6454:Usp35	UTSW	7	97,311,560 (GRCm38)	missense	probably damaging	0.98
R7142:Usp35	UTSW	7	97,311,547 (GRCm38)	missense	probably damaging	0.97
R7158:Usp35	UTSW	7	97,325,964 (GRCm38)	start codon destroyed	probably null	0.89
R7260:Usp35	UTSW	7	97,320,079 (GRCm38)	missense	probably damaging	0.98
R8270:Usp35	UTSW	7	97,312,344 (GRCm38)	missense	probably benign
R8275:Usp35	UTSW	7	97,314,819 (GRCm38)	missense	probably damaging	1.00
R8795:Usp35	UTSW	7	97,312,063 (GRCm38)	missense	probably benign
R8795:Usp35	UTSW	7	97,311,960 (GRCm38)	missense	possibly damaging	0.92
R9198:Usp35	UTSW	7	97,313,069 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACACAGTGGAATGAGTGGTC -3'
(R):5'- TCAGGACTTTACGGCCAGTC -3'

Sequencing Primer
(F):5'- AGGGGCAGTGATATAACCCTGTC -3'
(R):5'- GACTTTACGGCCAGTCCCTAG -3'

Posted On

2019-12-04