Mutagenetix > Incidental Mutation

Incidental Mutation 'R7537:Usp29'

583648

Institutional Source

Beutler Lab

Gene Symbol

Usp29

Ensembl Gene

ENSMUSG00000051527

Gene Name

ubiquitin specific peptidase 29

Synonyms

Ocat

MMRRC Submission

045609-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7537 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6733577-6970218 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 6964219 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 21 (T21P)

Ref Sequence

ENSEMBL: ENSMUSP00000143283 (fasta)

Gene Model

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

AlphaFold

Q9ES63

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054055
AA Change: T21P

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000062349
Gene: ENSMUSG00000051527
AA Change: T21P

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

possibly damaging
Transcript: ENSMUST00000197117
AA Change: T21P

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143283
Gene: ENSMUSG00000051527
AA Change: T21P

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: T21P

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143267
Gene: ENSMUSG00000051527
AA Change: T21P

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: T21P

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143769
Gene: ENSMUSG00000051527
AA Change: T21P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 121,967,637 (GRCm39)	L2229P	possibly damaging	Het
Acaca	T	A	11: 84,151,460 (GRCm39)	M786K	probably damaging	Het
Acta2	G	A	19: 34,229,931 (GRCm39)	T8I	probably benign	Het
Adap1	T	G	5: 139,278,928 (GRCm39)	E117D	possibly damaging	Het
Ap5z1	T	C	5: 142,463,053 (GRCm39)	S746P	probably benign	Het
Appl2	A	G	10: 83,453,292 (GRCm39)	I208T	possibly damaging	Het
Astn1	A	G	1: 158,332,956 (GRCm39)	E346G	possibly damaging	Het
Astn1	G	A	1: 158,495,208 (GRCm39)		probably null	Het
Atp23	T	A	10: 126,704,594 (GRCm39)	I180L	unknown	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Cdh23	A	T	10: 60,220,724 (GRCm39)	I1340N	probably benign	Het
Cdh8	G	A	8: 99,825,517 (GRCm39)	Q493*	probably null	Het
Ces1g	T	C	8: 94,046,455 (GRCm39)	I357V	probably benign	Het
Ddx46	A	G	13: 55,798,291 (GRCm39)	D226G	probably damaging	Het
Eea1	C	T	10: 95,830,767 (GRCm39)	Q143*	probably null	Het
Erlin2	G	T	8: 27,521,800 (GRCm39)		probably null	Het
Fat3	T	A	9: 15,849,615 (GRCm39)	D3929V	probably damaging	Het
Flt3	T	C	5: 147,271,247 (GRCm39)	D898G	probably damaging	Het
Gm16519	A	G	17: 71,236,351 (GRCm39)	N100S	probably benign	Het
Gnl1	A	G	17: 36,299,428 (GRCm39)	H533R	probably damaging	Het
Gphn	A	G	12: 78,551,454 (GRCm39)	T301A	possibly damaging	Het
Herc2	C	T	7: 55,869,527 (GRCm39)	R4295*	probably null	Het
Insm2	T	C	12: 55,646,303 (GRCm39)	S16P	possibly damaging	Het
Jak2	C	T	19: 29,276,037 (GRCm39)	T778I	probably benign	Het
Lrriq3	A	G	3: 154,806,734 (GRCm39)	T128A	probably damaging	Het
Lst1	A	G	17: 35,405,920 (GRCm39)		probably null	Het
Magi1	G	T	6: 93,685,091 (GRCm39)	Y762*	probably null	Het
Man2b1	T	A	8: 85,817,594 (GRCm39)	C358*	probably null	Het
Mga	T	C	2: 119,766,032 (GRCm39)	V1432A	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Morc2a	C	T	11: 3,633,566 (GRCm39)	Q587*	probably null	Het
Mrc2	T	C	11: 105,183,623 (GRCm39)	I4T	probably benign	Het
Muc16	C	A	9: 18,549,431 (GRCm39)	V5621F	probably benign	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Myo3b	A	G	2: 70,047,513 (GRCm39)	R340G	probably benign	Het
Nipal3	T	C	4: 135,218,248 (GRCm39)	Y34C	probably damaging	Het
Nktr	T	A	9: 121,578,345 (GRCm39)	D804E	unknown	Het
Nlrp4b	A	G	7: 10,448,816 (GRCm39)	M340V	probably benign	Het
Or1e26	T	A	11: 73,480,094 (GRCm39)	T157S	probably benign	Het
Or2ag2b	G	A	7: 106,417,581 (GRCm39)	C97Y	probably damaging	Het
Or56a41	A	T	7: 104,741,978 (GRCm39)	M16K	probably benign	Het
Or5al5	A	G	2: 85,961,608 (GRCm39)	V133A	probably benign	Het
Pard3	T	A	8: 128,337,063 (GRCm39)	N1271K	probably damaging	Het
Pcdhb11	A	T	18: 37,554,672 (GRCm39)	M1L	possibly damaging	Het
Pclo	T	C	5: 14,732,118 (GRCm39)	V3540A	unknown	Het
Pemt	A	G	11: 59,867,670 (GRCm39)	F154S	probably damaging	Het
Ptpn18	G	A	1: 34,512,445 (GRCm39)	D417N	possibly damaging	Het
Rnpc3	G	T	3: 113,407,481 (GRCm39)	T376K	probably benign	Het
Rpe65	A	G	3: 159,310,246 (GRCm39)	Y143C	probably damaging	Het
Sbk2	T	C	7: 4,966,148 (GRCm39)	E12G	probably benign	Het
Slc2a5	T	C	4: 150,213,526 (GRCm39)	I106T	possibly damaging	Het
Snx13	A	G	12: 35,135,981 (GRCm39)	D92G	probably damaging	Het
Sorl1	C	T	9: 41,891,984 (GRCm39)	V1889I	probably benign	Het
Spag17	A	T	3: 99,846,563 (GRCm39)	N29I	possibly damaging	Het
Speg	T	C	1: 75,378,108 (GRCm39)	V878A	probably damaging	Het
Timp4	A	G	6: 115,227,421 (GRCm39)	S53P	probably damaging	Het
Tssk1	G	T	16: 17,712,948 (GRCm39)	E244D	probably benign	Het
Vmn2r85	A	T	10: 130,258,735 (GRCm39)	V440E	probably benign	Het
Wdr59	T	C	8: 112,217,001 (GRCm39)	D270G		Het
Zbbx	G	A	3: 74,992,826 (GRCm39)	P223S	probably damaging	Het
Zfp936	T	A	7: 42,839,239 (GRCm39)	C235*	probably null	Het
Zranb3	A	T	1: 127,960,584 (GRCm39)		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
R4944:Usp29	UTSW	7	6,964,927 (GRCm39)	missense	possibly damaging	0.92
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
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'- AGACTAAAAGCTGATGGTGGTC -3'
(R):5'- AAGGATGTGTCGTCTCTCAAAG -3'

Sequencing Primer
(F):5'- GGTCAGTTAAGAGTTTAACCAGCCC -3'
(R):5'- GTGTCGTCTCTCAAAGTTAAATCCAG -3'

Posted On

2019-10-17