Mutagenetix > Incidental Mutation

Incidental Mutation 'R7412:Usp17lc'

575150

Institutional Source

Beutler Lab

Gene Symbol

Usp17lc

Ensembl Gene

ENSMUSG00000058976

Gene Name

ubiquitin specific peptidase 17-like C

Synonyms

Dub2, Usp17l5, Dub2b, Dub-2

MMRRC Submission

045493-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7412 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103415072-103419880 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103418368 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 290 (Y290C)

Ref Sequence

ENSEMBL: ENSMUSP00000078323 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079348] [ENSMUST00000106892]

AlphaFold

G5E8I7

Predicted Effect

probably damaging
Transcript: ENSMUST00000079348
AA Change: Y290C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000078323
Gene: ENSMUSG00000058976
AA Change: Y290C

Domain	Start	End	E-Value	Type
Pfam:UCH	50	345	3.8e-54	PFAM
Pfam:UCH_1	51	327	3.5e-25	PFAM
low complexity region	374	385	N/A	INTRINSIC
low complexity region	529	539	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000106892
AA Change: Y290C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102505
Gene: ENSMUSG00000058976
AA Change: Y290C

Domain	Start	End	E-Value	Type
Pfam:UCH	50	345	1.3e-60	PFAM
Pfam:UCH_1	51	327	5.5e-30	PFAM
low complexity region	374	385	N/A	INTRINSIC
low complexity region	529	539	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (71/73)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic elthality before implantation, failure to hatch from the zona pellucida, decreased cell proliferation and increased apoptosis. Mice heterozygous for this allele exhibit abnormal body, testis and thymus weight and reduced sperm motility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	A	10: 100,612,829 (GRCm38)	Y335*	probably null	Het
Alpk1	A	T	3: 127,672,494 (GRCm38)	L1121Q	probably damaging	Het
Alpk1	A	G	3: 127,695,733 (GRCm38)	I99T	probably damaging	Het
Ap2a2	T	A	7: 141,626,136 (GRCm38)	F717I	probably damaging	Het
Arhgap33	C	T	7: 30,523,052 (GRCm38)	D1152N	probably benign	Het
Arvcf	A	G	16: 18,401,600 (GRCm38)	D642G	probably benign	Het
Astn1	T	G	1: 158,502,349 (GRCm38)	M258R	probably damaging	Het
Brinp3	C	G	1: 146,902,010 (GRCm38)	L732V	possibly damaging	Het
Carmil1	T	C	13: 24,098,810 (GRCm38)	D547G	possibly damaging	Het
Ccdc177	A	G	12: 80,759,018 (GRCm38)	F161L	possibly damaging	Het
Cfap57	C	T	4: 118,614,931 (GRCm38)	V84I	probably benign	Het
Cnot10	A	G	9: 114,625,903 (GRCm38)	Y221H	probably damaging	Het
Col6a3	T	A	1: 90,828,133 (GRCm38)	I145F	probably damaging	Het
Crybg2	A	G	4: 134,074,123 (GRCm38)	T865A	probably benign	Het
Cyp4f37	A	G	17: 32,629,844 (GRCm38)	S229G	possibly damaging	Het
Ddx56	G	A	11: 6,261,720 (GRCm38)	T462I	probably damaging	Het
Dhx30	T	C	9: 110,092,898 (GRCm38)	M239V	probably benign	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 73,640,611 (GRCm38)		probably benign	Het
Enpp5	G	A	17: 44,085,264 (GRCm38)	G356S	probably damaging	Het
Ephb6	A	G	6: 41,620,239 (GRCm38)	K994E	probably damaging	Het
Fam83a	A	C	15: 57,986,425 (GRCm38)	T122P	probably benign	Het
Fbxo24	C	A	5: 137,619,623 (GRCm38)	C293F	possibly damaging	Het
Fech	A	T	18: 64,458,184 (GRCm38)	S390T	probably benign	Het
Fras1	A	G	5: 96,614,889 (GRCm38)	H750R	probably benign	Het
Frmpd2	A	G	14: 33,571,969 (GRCm38)	D1364G	probably benign	Het
Ganab	T	C	19: 8,912,528 (GRCm38)	I652T	probably benign	Het
Gm21103	T	A	14: 6,301,955 (GRCm38)	T153S	probably benign	Het
Gm21886	GGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGTTAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAG	GGGCCTGCAGACAGTAGGTACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAG	18: 80,089,752 (GRCm38)		probably benign	Het
Gm5799	A	G	14: 43,544,538 (GRCm38)	I56V	possibly damaging	Het
Gm7276	T	C	18: 77,185,487 (GRCm38)	R184G	unknown	Het
Gmip	T	G	8: 69,820,499 (GRCm38)	D845E	probably benign	Het
Hspa9	T	C	18: 34,949,029 (GRCm38)	K175E	probably damaging	Het
Ipo13	A	G	4: 117,894,871 (GRCm38)	F890L	probably benign	Het
Klrb1f	C	T	6: 129,056,345 (GRCm38)	R179*	probably null	Het
Mrvi1	A	T	7: 110,923,756 (GRCm38)	V160D	probably benign	Het
Nasp	A	G	4: 116,610,588 (GRCm38)	V400A	possibly damaging	Het
Ncoa7	T	A	10: 30,722,851 (GRCm38)	K25N	possibly damaging	Het
Ndrg1	A	C	15: 66,960,533 (GRCm38)	M1R	probably null	Het
Nf1	G	A	11: 79,473,414 (GRCm38)	A1557T	probably damaging	Het
Nrde2	G	A	12: 100,142,250 (GRCm38)	Q361*	probably null	Het
Olfr1330	A	T	4: 118,893,130 (GRCm38)	I16F	possibly damaging	Het
Olfr150	T	C	9: 39,737,126 (GRCm38)	F104L	probably benign	Het
Olfr221	A	T	14: 52,035,853 (GRCm38)	L86*	probably null	Het
Olfr350	T	C	2: 36,850,466 (GRCm38)	L140P	probably benign	Het
Olfr366	C	T	2: 37,219,762 (GRCm38)	T91I	possibly damaging	Het
Olfr829	A	T	9: 18,856,789 (GRCm38)	I46F	possibly damaging	Het
Opn1sw	A	T	6: 29,379,857 (GRCm38)	L126Q	probably damaging	Het
Osmr	A	G	15: 6,823,567 (GRCm38)	Y616H	probably damaging	Het
Pagr1a	T	C	7: 127,016,564 (GRCm38)	T120A	probably benign	Het
Patj	A	G	4: 98,411,139 (GRCm38)	E166G	probably damaging	Het
Plk4	G	A	3: 40,812,178 (GRCm38)	V764I	probably benign	Het
Polr3h	G	A	15: 81,916,401 (GRCm38)		probably null	Het
Ptprb	T	A	10: 116,341,138 (GRCm38)	D989E	probably benign	Het
Sdk2	A	T	11: 113,868,083 (GRCm38)		probably null	Het
Setd1b	C	A	5: 123,152,576 (GRCm38)	R869S	unknown	Het
Sgcz	T	C	8: 37,523,411 (GRCm38)	I263V	probably benign	Het
Skint8	G	A	4: 111,928,561 (GRCm38)	G68D	probably benign	Het
Slc22a7	A	T	17: 46,434,627 (GRCm38)	V326E	probably benign	Het
Slc39a1	T	G	3: 90,249,089 (GRCm38)	L38R	probably damaging	Het
Slc4a4	A	G	5: 89,214,647 (GRCm38)		probably null	Het
Sptlc3	A	G	2: 139,589,617 (GRCm38)	E353G	possibly damaging	Het
Ssh2	G	T	11: 77,450,108 (GRCm38)	L695F	probably damaging	Het
Tacr2	C	A	10: 62,261,648 (GRCm38)	Y302*	probably null	Het
Tas2r117	T	C	6: 132,803,229 (GRCm38)	L110P	probably damaging	Het
Tex9	A	T	9: 72,486,778 (GRCm38)		probably null	Het
Tmem17	A	T	11: 22,518,645 (GRCm38)	T195S	probably benign	Het
Trcg1	T	A	9: 57,241,483 (GRCm38)	S113T	probably benign	Het
Trpa1	A	T	1: 14,884,198 (GRCm38)	F826I	probably benign	Het
Vmn2r32	T	A	7: 7,474,213 (GRCm38)	D393V	possibly damaging	Het
Wdfy4	A	G	14: 33,149,584 (GRCm38)	L290P		Het
Xpnpep1	G	C	19: 53,006,291 (GRCm38)	A302G	probably benign	Het
Xrn2	T	C	2: 147,049,346 (GRCm38)	L692P	probably damaging	Het
Zgrf1	A	G	3: 127,563,071 (GRCm38)	S649G	probably benign	Het
Zscan4b	T	C	7: 10,901,893 (GRCm38)	D169G	probably benign	Het
Zscan4b	C	T	7: 10,900,864 (GRCm38)	C484Y	probably damaging	Het

Other mutations in Usp17lc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00338:Usp17lc	APN	7	103,418,941 (GRCm38)	missense	possibly damaging	0.74
IGL00499:Usp17lc	APN	7	103,418,465 (GRCm38)	missense	probably damaging	1.00
IGL00499:Usp17lc	APN	7	103,418,466 (GRCm38)	missense	probably damaging	1.00
IGL01446:Usp17lc	APN	7	103,418,444 (GRCm38)	missense	probably benign	0.00
R1466:Usp17lc	UTSW	7	103,418,941 (GRCm38)	missense	possibly damaging	0.74
R1466:Usp17lc	UTSW	7	103,418,941 (GRCm38)	missense	possibly damaging	0.74
R1584:Usp17lc	UTSW	7	103,418,941 (GRCm38)	missense	possibly damaging	0.74
R1754:Usp17lc	UTSW	7	103,418,848 (GRCm38)	missense	probably benign	0.01
R2987:Usp17lc	UTSW	7	103,418,302 (GRCm38)	missense	probably damaging	0.99
R3969:Usp17lc	UTSW	7	103,418,419 (GRCm38)	missense	probably damaging	1.00
R4661:Usp17lc	UTSW	7	103,418,590 (GRCm38)	missense	probably benign	0.00
R5118:Usp17lc	UTSW	7	103,418,661 (GRCm38)	missense	probably benign	0.05
R5413:Usp17lc	UTSW	7	103,418,556 (GRCm38)	missense	probably benign
R6962:Usp17lc	UTSW	7	103,418,911 (GRCm38)	missense	probably benign	0.00
R7638:Usp17lc	UTSW	7	103,418,499 (GRCm38)	missense	probably damaging	1.00
R7748:Usp17lc	UTSW	7	103,418,481 (GRCm38)	missense	probably damaging	1.00
R8194:Usp17lc	UTSW	7	103,418,200 (GRCm38)	missense	probably benign	0.00
R8303:Usp17lc	UTSW	7	103,418,182 (GRCm38)	missense	possibly damaging	0.88
R8815:Usp17lc	UTSW	7	103,418,317 (GRCm38)	missense	probably benign	0.01
R8859:Usp17lc	UTSW	7	103,415,109 (GRCm38)	missense	probably benign	0.01
R9023:Usp17lc	UTSW	7	103,418,332 (GRCm38)	missense	possibly damaging	0.88
R9200:Usp17lc	UTSW	7	103,418,898 (GRCm38)	missense	probably benign	0.14
R9658:Usp17lc	UTSW	7	103,418,182 (GRCm38)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- ACGTGGAGAGAATGCCTACTAC -3'
(R):5'- TTTGAGGTCAGTCTGCTGCAC -3'

Sequencing Primer
(F):5'- TGTAGACAGAAGATGCCAGCTTCC -3'
(R):5'- TCAGTCTGCTGCACATAGAAG -3'

Posted On

2019-10-07