Mutagenetix > Incidental Mutation

Incidental Mutation 'R1466:Usp17lc'

201183

Institutional Source

Beutler Lab

Gene Symbol

Usp17lc

Ensembl Gene

ENSMUSG00000058976

Gene Name

ubiquitin specific peptidase 17-like C

Synonyms

Dub2, Usp17l5, Dub2b, Dub-2

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1466 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103415072-103419880 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103418941 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 481 (H481R)

Ref Sequence

ENSEMBL: ENSMUSP00000102505 (fasta)

Gene Model

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

AlphaFold

G5E8I7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079348
AA Change: H481R

PolyPhen 2 Score 0.743 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000078323
Gene: ENSMUSG00000058976
AA Change: H481R

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

possibly damaging
Transcript: ENSMUST00000106892
AA Change: H481R

PolyPhen 2 Score 0.743 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000102505
Gene: ENSMUSG00000058976
AA Change: H481R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000116717

Meta Mutation Damage Score

0.3015

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.7%
20x: 90.4%

Validation Efficiency

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: 134 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110012J17Rik	T	A	17: 66,380,435 (GRCm38)	D492V	probably damaging	Het
Abca13	T	C	11: 9,570,536 (GRCm38)		probably benign	Het
Abcg8	G	C	17: 84,686,727 (GRCm38)		probably benign	Het
Abhd15	C	T	11: 77,515,410 (GRCm38)	A71V	probably damaging	Het
AC167973.1	A	T	9: 43,265,352 (GRCm38)		noncoding transcript	Het
Adamts12	T	C	15: 11,311,359 (GRCm38)	F1234S	probably benign	Het
Ahnak	A	G	19: 9,015,875 (GRCm38)	D4841G	probably damaging	Het
Akap13	T	C	7: 75,729,049 (GRCm38)	S2095P	possibly damaging	Het
Ampd2	T	C	3: 108,080,337 (GRCm38)		probably null	Het
Arhgef17	G	T	7: 100,929,659 (GRCm38)	P694Q	possibly damaging	Het
Arrdc1	T	C	2: 24,925,795 (GRCm38)	I398V	probably benign	Het
Ash1l	T	C	3: 89,052,065 (GRCm38)	Y2250H	probably damaging	Het
Aspg	A	G	12: 112,121,852 (GRCm38)	N385D	probably benign	Het
Atxn3	G	A	12: 101,926,499 (GRCm38)	R319C	possibly damaging	Het
BC005561	T	A	5: 104,518,257 (GRCm38)	I215N	probably damaging	Het
Brca2	G	A	5: 150,552,258 (GRCm38)	A2478T	probably damaging	Het
Btrc	T	A	19: 45,513,382 (GRCm38)		probably benign	Het
C1s1	C	T	6: 124,531,131 (GRCm38)	C633Y	probably damaging	Het
C8g	C	T	2: 25,500,216 (GRCm38)	A6T	probably benign	Het
Capza2	T	C	6: 17,657,159 (GRCm38)		probably benign	Het
Cbl	A	T	9: 44,154,244 (GRCm38)	V706E	probably benign	Het
Ccdc84	A	T	9: 44,413,680 (GRCm38)		probably benign	Het
Cfhr1	C	T	1: 139,557,574 (GRCm38)	E45K	probably benign	Het
Chd7	G	A	4: 8,840,561 (GRCm38)		probably null	Het
Chek1	G	T	9: 36,725,857 (GRCm38)	A2E	probably damaging	Het
Clcn2	G	A	16: 20,712,552 (GRCm38)		probably benign	Het
Cndp2	G	A	18: 84,677,315 (GRCm38)		probably benign	Het
Cntnap1	C	A	11: 101,180,360 (GRCm38)	F366L	probably damaging	Het
Col5a1	G	T	2: 28,003,846 (GRCm38)		probably benign	Het
Corin	C	T	5: 72,302,790 (GRCm38)		probably null	Het
Crb2	T	C	2: 37,783,388 (GRCm38)	Y99H	probably damaging	Het
Csf3r	T	A	4: 126,031,932 (GRCm38)		probably benign	Het
Ctdspl2	G	A	2: 122,003,929 (GRCm38)	R332K	probably benign	Het
Ctnnbl1	C	T	2: 157,799,417 (GRCm38)		probably benign	Het
Cym	G	A	3: 107,213,458 (GRCm38)	T277I	probably damaging	Het
Cyp2d11	C	T	15: 82,391,735 (GRCm38)	C215Y	probably benign	Het
Dido1	G	A	2: 180,662,328 (GRCm38)	P1261L	probably damaging	Het
Dnah10	T	A	5: 124,763,096 (GRCm38)	Y1265N	probably benign	Het
Dtx3l	G	A	16: 35,932,728 (GRCm38)	L503F	probably damaging	Het
Eda	T	A	X: 100,392,392 (GRCm38)		probably benign	Homo
Efhb	A	G	17: 53,437,178 (GRCm38)	F462L	probably damaging	Het
Enpep	T	A	3: 129,319,448 (GRCm38)	T203S	probably damaging	Het
Exd1	G	A	2: 119,520,734 (GRCm38)		probably benign	Het
Fam184b	G	A	5: 45,580,509 (GRCm38)		probably benign	Het
Fam20b	T	C	1: 156,686,188 (GRCm38)		probably benign	Het
Fat3	A	C	9: 16,375,482 (GRCm38)	V915G	probably damaging	Het
Fbln7	A	G	2: 128,877,429 (GRCm38)	T49A	probably benign	Het
Fcho1	C	T	8: 71,712,560 (GRCm38)	A418T	probably benign	Het
Fgf14	T	A	14: 124,676,539 (GRCm38)	K60M	probably benign	Het
Galnt4	A	G	10: 99,108,709 (GRCm38)	R99G	probably benign	Het
Gimap4	C	A	6: 48,691,282 (GRCm38)	Q196K	probably benign	Het
Glcci1	C	T	6: 8,537,964 (GRCm38)	T6I	probably damaging	Het
Gm10110	A	T	14: 89,898,075 (GRCm38)		noncoding transcript	Het
Gm4884	A	G	7: 41,043,128 (GRCm38)	K174E	probably damaging	Het
Gm6583	C	T	5: 112,354,764 (GRCm38)	G358D	probably benign	Het
Grip2	A	T	6: 91,788,443 (GRCm38)	D19E	probably damaging	Het
Grk4	T	C	5: 34,694,750 (GRCm38)	S113P	probably benign	Het
Hectd3	G	A	4: 116,996,566 (GRCm38)	E220K	probably damaging	Het
Helz2	G	A	2: 181,236,297 (GRCm38)	P903S	probably damaging	Het
Hydin	T	A	8: 110,532,953 (GRCm38)	V2519E	possibly damaging	Het
Igf2r	A	T	17: 12,717,269 (GRCm38)		probably benign	Het
Ints11	G	A	4: 155,888,110 (GRCm38)		probably null	Het
Kif1a	A	G	1: 93,054,929 (GRCm38)	W718R	possibly damaging	Het
Kif1b	A	T	4: 149,223,252 (GRCm38)	Y839N	probably damaging	Het
Kif20b	T	A	19: 34,950,599 (GRCm38)	V1047D	probably benign	Het
Klhl23	T	C	2: 69,833,888 (GRCm38)	I527T	probably damaging	Het
Klra10	T	C	6: 130,279,431 (GRCm38)	N87D	probably damaging	Het
Klra10	T	A	6: 130,279,315 (GRCm38)	R125S	probably damaging	Het
Lars	G	A	18: 42,210,050 (GRCm38)	R1101C	probably damaging	Het
Lcn4	G	A	2: 26,668,576 (GRCm38)	P166L	probably damaging	Het
Letmd1	T	A	15: 100,472,542 (GRCm38)		probably null	Het
Lrrc27	A	G	7: 139,230,308 (GRCm38)		probably benign	Het
Map4k2	G	T	19: 6,341,917 (GRCm38)	W87L	probably damaging	Het
Mccc1	A	G	3: 35,974,286 (GRCm38)	V457A	probably benign	Het
Mdn1	T	A	4: 32,730,788 (GRCm38)	S2886T	probably benign	Het
Mgat4a	A	T	1: 37,464,406 (GRCm38)		probably benign	Het
Mmp1b	A	T	9: 7,384,779 (GRCm38)		probably benign	Het
Mroh2b	G	T	15: 4,925,684 (GRCm38)	D720Y	probably damaging	Het
Mrpl24	T	A	3: 87,921,928 (GRCm38)	Y21*	probably null	Het
Mrps35	C	T	6: 147,055,984 (GRCm38)	T169M	probably damaging	Het
Muc2	A	G	7: 141,748,974 (GRCm38)	Y457C	probably damaging	Het
Muc4	G	A	16: 32,753,595 (GRCm38)	G1157D	probably benign	Het
Myg1	T	A	15: 102,337,390 (GRCm38)	L275Q	probably damaging	Het
Naga	T	A	15: 82,334,788 (GRCm38)	M237L	probably null	Het
Nek1	C	T	8: 61,125,136 (GRCm38)		probably benign	Het
Oc90	T	A	15: 65,897,720 (GRCm38)	Y96F	probably damaging	Het
Olfr1029	T	A	2: 85,975,995 (GRCm38)	F251I	probably damaging	Het
Olfr103	A	T	17: 37,336,956 (GRCm38)	L92H	probably benign	Het
Olfr1253	C	T	2: 89,752,267 (GRCm38)	C187Y	probably damaging	Het
Olfr46	A	G	7: 140,610,969 (GRCm38)	I268V	probably benign	Het
Olfr522	A	G	7: 140,162,203 (GRCm38)	V249A	probably damaging	Het
Orc4	A	T	2: 48,909,494 (GRCm38)	C324S	possibly damaging	Het
Pald1	T	C	10: 61,348,525 (GRCm38)		probably benign	Het
Paox	A	G	7: 140,129,281 (GRCm38)		probably benign	Het
Pcdh10	T	G	3: 45,379,974 (GRCm38)	L241R	probably damaging	Het
Pdzrn4	T	C	15: 92,770,537 (GRCm38)	S857P	probably benign	Het
Plec	C	T	15: 76,185,908 (GRCm38)	E1000K	possibly damaging	Het
Plvap	A	T	8: 71,508,481 (GRCm38)	V149D	probably benign	Het
Ppef1	C	A	X: 160,625,674 (GRCm38)		probably null	Homo
Prkaa1	C	A	15: 5,178,798 (GRCm38)	P507T	probably benign	Het
Psmd2	A	G	16: 20,657,965 (GRCm38)		probably benign	Het
Ptch1	A	G	13: 63,524,969 (GRCm38)	Y804H	probably benign	Het
R3hdm2	A	G	10: 127,476,690 (GRCm38)	I434V	probably benign	Het
Rbm28	G	A	6: 29,155,017 (GRCm38)		probably benign	Het
Rfx5	T	A	3: 94,956,303 (GRCm38)	Y88N	probably damaging	Het
Rnase2b	A	T	14: 51,162,839 (GRCm38)	K126*	probably null	Het
Rpl3l	A	G	17: 24,730,871 (GRCm38)	I15V	probably benign	Het
Saal1	G	T	7: 46,702,545 (GRCm38)		probably null	Het
Sbpl	A	C	17: 23,953,254 (GRCm38)	D230E	unknown	Het
Scn10a	T	C	9: 119,666,490 (GRCm38)	Y322C	probably damaging	Het
Sec16a	A	T	2: 26,431,157 (GRCm38)	Y1308N	probably damaging	Het
Sis	A	T	3: 72,932,060 (GRCm38)	D824E	possibly damaging	Het
Slc25a36	A	G	9: 97,080,355 (GRCm38)	F194L	probably damaging	Het
Slc27a4	T	A	2: 29,811,190 (GRCm38)	V331E	probably damaging	Het
Slc7a11	G	T	3: 50,381,073 (GRCm38)		probably null	Het
Slco4c1	A	T	1: 96,841,172 (GRCm38)	S322T	probably damaging	Het
Smarcc2	A	T	10: 128,474,245 (GRCm38)	T376S	probably damaging	Het
Srebf1	C	T	11: 60,200,702 (GRCm38)	R999H	probably benign	Het
St3gal3	A	C	4: 118,107,662 (GRCm38)	M1R	probably null	Het
Syp	A	T	X: 7,648,705 (GRCm38)		probably benign	Homo
Tas1r2	A	G	4: 139,669,411 (GRCm38)	D687G	probably damaging	Het
Tekt4	A	T	17: 25,472,074 (GRCm38)	Q118L	probably benign	Het
Tph2	T	C	10: 115,079,695 (GRCm38)	N480S	probably benign	Het
Tsc2	A	T	17: 24,608,973 (GRCm38)	M839K	probably damaging	Het
Ttc22	T	C	4: 106,622,780 (GRCm38)	F77S	probably damaging	Het
Uaca	C	T	9: 60,854,321 (GRCm38)	A205V	possibly damaging	Het
Ubp1	T	G	9: 113,944,835 (GRCm38)		probably benign	Het
Uhmk1	A	T	1: 170,208,653 (GRCm38)		probably null	Het
Vwa3a	A	G	7: 120,768,165 (GRCm38)	Y181C	probably damaging	Het
Wdr26	C	T	1: 181,185,934 (GRCm38)		probably benign	Het
Wfikkn2	G	A	11: 94,238,895 (GRCm38)	T140I	probably damaging	Het
Zfp704	G	T	3: 9,447,348 (GRCm38)	T288N	possibly damaging	Het
Zfp93	T	C	7: 24,276,096 (GRCm38)	V502A	probably damaging	Het
Zzef1	C	T	11: 72,924,679 (GRCm38)	P2942S	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
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
R7412:Usp17lc	UTSW	7	103,418,368 (GRCm38)	missense	probably damaging	1.00
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'- TTGTGCCTCAGGAACAGAACCACC -3'
(R):5'- TCAGATCCCATGAGTTGCAGGAGAG -3'

Sequencing Primer
(F):5'- CCACCAGAAACTTGGGCAG -3'
(R):5'- TGACCATTCTCAGAGAGTCAGTC -3'

Posted On

2014-05-23