Mutagenetix > Incidental Mutation

Incidental Mutation 'R4944:Usp29'

383343

Institutional Source

Beutler Lab

Gene Symbol

Usp29

Ensembl Gene

ENSMUSG00000051527

Gene Name

ubiquitin specific peptidase 29

Synonyms

Ocat

MMRRC Submission

042541-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4944 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6733577-6970218 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6964927 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 257 (S257P)

Ref Sequence

ENSEMBL: ENSMUSP00000143769 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054055] [ENSMUST00000197117] [ENSMUST00000198068] [ENSMUST00000200535]

AlphaFold

Q9ES63

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054055
AA Change: S257P

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000062349
Gene: ENSMUSG00000051527
AA Change: S257P

Domain	Start	End	E-Value	Type
Pfam:UCH_N	1	107	6.1e-37	PFAM
low complexity region	162	179	N/A	INTRINSIC
low complexity region	200	214	N/A	INTRINSIC
Pfam:UCH	288	823	6.1e-53	PFAM
Pfam:UCH_1	289	615	2.3e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000197117

SMART Domains

Protein: ENSMUSP00000143283
Gene: ENSMUSG00000051527

Domain	Start	End	E-Value	Type
PDB:3U12\|B	11	73	3e-7	PDB
low complexity region	82	95	N/A	INTRINSIC
low complexity region	169	186	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000198068
AA Change: S257P

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143267
Gene: ENSMUSG00000051527
AA Change: S257P

Domain	Start	End	E-Value	Type
PDB:3U12\|B	11	123	3e-6	PDB
low complexity region	169	186	N/A	INTRINSIC
low complexity region	207	221	N/A	INTRINSIC
Pfam:UCH	295	830	7.9e-52	PFAM
Pfam:UCH_1	296	626	9.6e-16	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000200535
AA Change: S257P

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143769
Gene: ENSMUSG00000051527
AA Change: S257P

Domain	Start	End	E-Value	Type
Pfam:UCH_N	8	114	8.3e-34	PFAM
low complexity region	169	186	N/A	INTRINSIC
low complexity region	207	221	N/A	INTRINSIC
Pfam:UCH	295	830	2.8e-51	PFAM
Pfam:UCH_1	296	622	1.1e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203365

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204486

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	G	A	5: 8,984,327 (GRCm39)		probably null	Het
Angptl7	C	G	4: 148,584,534 (GRCm39)	Q71H	probably damaging	Het
Arhgap30	A	T	1: 171,229,822 (GRCm39)	N176Y	probably damaging	Het
Armc9	T	A	1: 86,202,256 (GRCm39)	S805T	probably damaging	Het
Atxn1	T	G	13: 45,720,407 (GRCm39)	H496P	probably damaging	Het
Cabin1	C	T	10: 75,557,197 (GRCm39)	G1147D	probably damaging	Het
Cabin1	A	G	10: 75,575,255 (GRCm39)	S597P	probably damaging	Het
Catsperd	T	C	17: 56,969,744 (GRCm39)	S613P	probably damaging	Het
Cdh2	A	G	18: 16,783,466 (GRCm39)	Y88H	probably damaging	Het
Cntn1	C	A	15: 92,126,549 (GRCm39)	P47Q	probably damaging	Het
Col11a2	T	C	17: 34,261,164 (GRCm39)	L38P	possibly damaging	Het
Col5a2	T	G	1: 45,415,855 (GRCm39)	I1431L	possibly damaging	Het
Csmd1	C	T	8: 16,048,772 (GRCm39)	G2310D	probably damaging	Het
Dhcr7	T	A	7: 143,391,528 (GRCm39)	I39N	probably damaging	Het
Dnajc13	C	T	9: 104,044,586 (GRCm39)		probably benign	Het
Drgx	G	T	14: 32,330,206 (GRCm39)	Q136H	probably damaging	Het
Folr2	T	C	7: 101,489,497 (GRCm39)		probably null	Het
Galnt11	T	C	5: 25,470,336 (GRCm39)	I595T	probably damaging	Het
Gp5	G	A	16: 30,128,326 (GRCm39)	A116V	possibly damaging	Het
Gpn3	T	C	5: 122,520,303 (GRCm39)		probably benign	Het
Gprin3	T	C	6: 59,331,644 (GRCm39)	N221S	probably benign	Het
Hfm1	T	C	5: 107,022,079 (GRCm39)	E989G	possibly damaging	Het
Ints1	T	C	5: 139,743,847 (GRCm39)		probably null	Het
Josd2	T	C	7: 44,120,592 (GRCm39)	S110P	probably damaging	Het
Kat14	C	A	2: 144,217,873 (GRCm39)	T123K	probably damaging	Het
Lamtor1	C	T	7: 101,558,971 (GRCm39)	T48I	probably damaging	Het
Lrrc24	A	G	15: 76,602,546 (GRCm39)	L113P	probably damaging	Het
Lrrc37	T	C	11: 103,504,286 (GRCm39)	T2561A	possibly damaging	Het
Mog	T	C	17: 37,331,433 (GRCm39)	E89G	probably damaging	Het
Mon2	A	G	10: 122,874,364 (GRCm39)		probably null	Het
Mtx1	T	C	3: 89,121,205 (GRCm39)	Y143C	probably benign	Het
Nacad	T	C	11: 6,548,507 (GRCm39)	E1409G	possibly damaging	Het
Ndst3	T	C	3: 123,400,676 (GRCm39)	H410R	probably damaging	Het
Nkx6-2	T	C	7: 139,161,486 (GRCm39)	E233G	possibly damaging	Het
Oas1h	A	G	5: 121,000,846 (GRCm39)	E152G	probably damaging	Het
Or8g22	A	G	9: 38,958,158 (GRCm39)	S186P	probably damaging	Het
Ovgp1	T	C	3: 105,887,269 (GRCm39)	F222L	possibly damaging	Het
Pkhd1	T	C	1: 20,358,429 (GRCm39)	S2716G	probably null	Het
Pla2g4e	T	C	2: 120,001,718 (GRCm39)	T644A	probably benign	Het
Plxnd1	A	G	6: 115,932,726 (GRCm39)	I1918T	probably damaging	Het
Psmg1	A	T	16: 95,790,812 (GRCm39)		probably benign	Het
Ptprd	G	A	4: 76,047,136 (GRCm39)	R364C	probably damaging	Het
Rgs22	T	C	15: 36,026,088 (GRCm39)	I945V	possibly damaging	Het
Rgs7bp	T	C	13: 105,088,072 (GRCm39)	N234S	probably benign	Het
Rrp7a	T	C	15: 83,004,010 (GRCm39)		probably benign	Het
Scg2	T	A	1: 79,414,193 (GRCm39)	R177*	probably null	Het
Sema4c	C	A	1: 36,589,392 (GRCm39)	C578F	probably damaging	Het
Slc1a5	T	A	7: 16,531,668 (GRCm39)		probably benign	Het
Slc5a3	A	G	16: 91,875,571 (GRCm39)	T543A	possibly damaging	Het
Slx4ip	T	A	2: 136,888,687 (GRCm39)	F123I	probably benign	Het
Smtn	C	T	11: 3,472,916 (GRCm39)	R737H	probably damaging	Het
Stox2	A	G	8: 47,866,300 (GRCm39)	I14T	possibly damaging	Het
Stradb	T	C	1: 59,019,599 (GRCm39)	F43L	probably benign	Het
Szt2	T	C	4: 118,245,866 (GRCm39)	D1029G	probably benign	Het
Taar6	T	C	10: 23,860,613 (GRCm39)	Y311C	probably damaging	Het
Tcea3	A	T	4: 135,995,404 (GRCm39)	N249I	probably damaging	Het
Tecta	A	G	9: 42,241,573 (GRCm39)	M2134T	probably benign	Het
Tg	G	A	15: 66,636,186 (GRCm39)	G591D	probably damaging	Het
Tm4sf20	T	A	1: 82,746,084 (GRCm39)	I19F	probably benign	Het
Top2a	T	C	11: 98,888,676 (GRCm39)	K1262E	probably benign	Het
Ube2r2	A	G	4: 41,190,742 (GRCm39)		probably benign	Het
Usp40	T	C	1: 87,880,077 (GRCm39)	N1038S	probably benign	Het
Utp25	A	T	1: 192,797,262 (GRCm39)	M530K	probably damaging	Het
Vmn1r121	C	T	7: 20,831,538 (GRCm39)	E301K	probably benign	Het
Vmn2r49	T	A	7: 9,722,959 (GRCm39)	H105L	probably benign	Het
Zgrf1	C	T	3: 127,355,517 (GRCm39)	Q248*	probably null	Het

Other mutations in Usp29

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00659:Usp29	APN	7	6,965,281 (GRCm39)	missense	probably benign	0.06
IGL01588:Usp29	APN	7	6,965,610 (GRCm39)	missense	probably benign	0.33
IGL02032:Usp29	APN	7	6,965,017 (GRCm39)	missense	probably benign	0.41
IGL02052:Usp29	APN	7	6,965,525 (GRCm39)	missense	probably benign	0.06
IGL02331:Usp29	APN	7	6,965,155 (GRCm39)	missense	probably benign	0.16
IGL02551:Usp29	APN	7	6,966,352 (GRCm39)	splice site	probably null
IGL02573:Usp29	APN	7	6,965,617 (GRCm39)	splice site	probably null
IGL02894:Usp29	APN	7	6,964,633 (GRCm39)	missense	probably benign	0.00
R0029:Usp29	UTSW	7	6,964,580 (GRCm39)	missense	probably damaging	0.99
R0142:Usp29	UTSW	7	6,965,334 (GRCm39)	missense	probably benign	0.12
R0452:Usp29	UTSW	7	6,966,181 (GRCm39)	missense	possibly damaging	0.82
R0680:Usp29	UTSW	7	6,965,884 (GRCm39)	missense	possibly damaging	0.92
R1161:Usp29	UTSW	7	6,964,529 (GRCm39)	missense	probably damaging	1.00
R2391:Usp29	UTSW	7	6,966,770 (GRCm39)	splice site	probably null
R3104:Usp29	UTSW	7	6,965,052 (GRCm39)	nonsense	probably null
R4119:Usp29	UTSW	7	6,965,805 (GRCm39)	missense	probably benign	0.03
R4490:Usp29	UTSW	7	6,964,949 (GRCm39)	missense	possibly damaging	0.68
R4598:Usp29	UTSW	7	6,965,479 (GRCm39)	missense	probably benign	0.06
R4606:Usp29	UTSW	7	6,966,356 (GRCm39)	splice site	probably null
R4670:Usp29	UTSW	7	6,965,914 (GRCm39)	missense	possibly damaging	0.91
R4777:Usp29	UTSW	7	6,965,747 (GRCm39)	missense	probably benign	0.07
R4783:Usp29	UTSW	7	6,964,390 (GRCm39)	missense	probably damaging	1.00
R4785:Usp29	UTSW	7	6,964,390 (GRCm39)	missense	probably damaging	1.00
R4896:Usp29	UTSW	7	6,965,158 (GRCm39)	missense	probably benign	0.29
R4915:Usp29	UTSW	7	6,964,504 (GRCm39)	missense	probably benign
R5004:Usp29	UTSW	7	6,965,158 (GRCm39)	missense	probably benign	0.29
R5171:Usp29	UTSW	7	6,965,074 (GRCm39)	missense	probably damaging	0.99
R5268:Usp29	UTSW	7	6,964,583 (GRCm39)	missense	probably damaging	0.98
R5572:Usp29	UTSW	7	6,965,191 (GRCm39)	missense	probably benign	0.12
R5933:Usp29	UTSW	7	6,964,744 (GRCm39)	missense	probably benign
R6694:Usp29	UTSW	7	6,965,276 (GRCm39)	missense	probably benign	0.03
R7389:Usp29	UTSW	7	6,966,457 (GRCm39)	missense	possibly damaging	0.82
R7446:Usp29	UTSW	7	6,964,219 (GRCm39)	missense	possibly damaging	0.93
R7447:Usp29	UTSW	7	6,964,219 (GRCm39)	missense	possibly damaging	0.93
R7535:Usp29	UTSW	7	6,964,219 (GRCm39)	missense	possibly damaging	0.93
R7537:Usp29	UTSW	7	6,964,219 (GRCm39)	missense	possibly damaging	0.93
R8081:Usp29	UTSW	7	6,966,629 (GRCm39)	missense	probably benign	0.02
R8233:Usp29	UTSW	7	6,965,406 (GRCm39)	missense	probably benign	0.12
R8703:Usp29	UTSW	7	6,964,321 (GRCm39)	missense	probably benign	0.32
R8725:Usp29	UTSW	7	6,965,917 (GRCm39)	missense	probably damaging	0.98
R8727:Usp29	UTSW	7	6,965,917 (GRCm39)	missense	probably damaging	0.98
R8844:Usp29	UTSW	7	6,964,891 (GRCm39)	missense	probably benign	0.02
R9173:Usp29	UTSW	7	6,964,636 (GRCm39)	missense	possibly damaging	0.92
R9616:Usp29	UTSW	7	6,966,179 (GRCm39)	missense	possibly damaging	0.91
R9623:Usp29	UTSW	7	6,964,396 (GRCm39)	missense	possibly damaging	0.60

Predicted Primers

PCR Primer
(F):5'- GTGAACAAGGACATTCCCAAAG -3'
(R):5'- GACTTTCTCCCATGGGATGC -3'

Sequencing Primer
(F):5'- GGACATTCCCAAAGAAAATACTCCTG -3'
(R):5'- TCTCCCATGGGATGCCTTGAG -3'

Posted On

2016-04-27