Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01794:Usp34'

278927

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Usp34

Ensembl Gene

ENSMUSG00000056342

Gene Name

ubiquitin specific peptidase 34

Synonyms

Murr2, A530081C03Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.831) question?

Stock #

IGL01794

Quality Score

Status

Chromosome

Chromosomal Location

23256895-23440560 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 23386020 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 2149 (R2149H)

Ref Sequence

ENSEMBL: ENSMUSP00000137430 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000130131] [ENSMUST00000180046]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000130131
AA Change: R390H

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000115168
Gene: ENSMUSG00000056342
AA Change: R390H

Domain	Start	End	E-Value	Type
low complexity region	33	45	N/A	INTRINSIC
Pfam:UCH	171	514	1.1e-48	PFAM
Pfam:UCH_1	172	470	1.6e-25	PFAM
low complexity region	763	785	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000137823
AA Change: R2168H

SMART Domains

Protein: ENSMUSP00000120747
Gene: ENSMUSG00000056342
AA Change: R2168H

Domain	Start	End	E-Value	Type
low complexity region	489	500	N/A	INTRINSIC
low complexity region	530	544	N/A	INTRINSIC
low complexity region	591	610	N/A	INTRINSIC
coiled coil region	626	671	N/A	INTRINSIC
low complexity region	827	842	N/A	INTRINSIC
low complexity region	1207	1218	N/A	INTRINSIC
low complexity region	1399	1410	N/A	INTRINSIC
low complexity region	1518	1532	N/A	INTRINSIC
low complexity region	1751	1764	N/A	INTRINSIC
low complexity region	1812	1824	N/A	INTRINSIC
Pfam:UCH	1950	2293	7.6e-44	PFAM
Pfam:UCH_1	1951	2249	3.6e-22	PFAM
low complexity region	2542	2564	N/A	INTRINSIC
low complexity region	2672	2679	N/A	INTRINSIC
Blast:Drf_GBD	2943	3116	3e-53	BLAST
low complexity region	3344	3357	N/A	INTRINSIC
coiled coil region	3371	3393	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000180046
AA Change: R2149H

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000137430
Gene: ENSMUSG00000056342
AA Change: R2149H

Domain	Start	End	E-Value	Type
low complexity region	469	480	N/A	INTRINSIC
low complexity region	510	524	N/A	INTRINSIC
low complexity region	571	590	N/A	INTRINSIC
coiled coil region	607	652	N/A	INTRINSIC
low complexity region	807	822	N/A	INTRINSIC
low complexity region	1187	1198	N/A	INTRINSIC
low complexity region	1379	1390	N/A	INTRINSIC
low complexity region	1498	1512	N/A	INTRINSIC
low complexity region	1731	1744	N/A	INTRINSIC
low complexity region	1792	1804	N/A	INTRINSIC
Pfam:UCH	1930	2273	2.3e-44	PFAM
Pfam:UCH_1	1931	2229	1.1e-22	PFAM
low complexity region	2522	2544	N/A	INTRINSIC
low complexity region	2652	2659	N/A	INTRINSIC
Blast:Drf_GBD	2923	3096	2e-53	BLAST
low complexity region	3324	3337	N/A	INTRINSIC
coiled coil region	3352	3374	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	C	T	6: 91,895,093 (GRCm39)	R263*	probably null	Het
Appl2	A	G	10: 83,450,158 (GRCm39)	V238A	probably benign	Het
Bcl2l11	T	A	2: 127,970,568 (GRCm39)	S6T	probably damaging	Het
Bptf	A	G	11: 106,944,047 (GRCm39)		probably null	Het
Catsper3	T	C	13: 55,946,719 (GRCm39)	S139P	possibly damaging	Het
Cdh3	A	G	8: 107,263,758 (GRCm39)	N192S	possibly damaging	Het
Dsc1	A	T	18: 20,243,240 (GRCm39)	I71N	probably damaging	Het
Fbxw2	A	G	2: 34,701,131 (GRCm39)		probably benign	Het
Gad1	G	T	2: 70,427,512 (GRCm39)	V473L	probably benign	Het
Golm2	T	A	2: 121,742,407 (GRCm39)	N206K	probably benign	Het
Gtpbp1	C	T	15: 79,600,447 (GRCm39)	T460I	probably damaging	Het
Krt16	G	A	11: 100,138,731 (GRCm39)	T185I	probably benign	Het
Mapk1ip1	C	T	7: 138,438,426 (GRCm39)	M1I	probably null	Het
Nt5e	A	T	9: 88,249,351 (GRCm39)	L428F	probably damaging	Het
Or5p54	A	G	7: 107,554,502 (GRCm39)	Y218C	probably damaging	Het
Pah	G	T	10: 87,414,784 (GRCm39)	V379F	possibly damaging	Het
Scn7a	T	C	2: 66,505,853 (GRCm39)	T1679A	probably benign	Het
Sdccag8	T	A	1: 176,672,873 (GRCm39)	H293Q	possibly damaging	Het
Spmip4	T	C	6: 50,554,826 (GRCm39)	I268M	probably damaging	Het
Suco	A	G	1: 161,655,294 (GRCm39)	M1066T	probably benign	Het
Trim9	A	G	12: 70,328,654 (GRCm39)	Y369H	probably damaging	Het

Other mutations in Usp34

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Usp34	APN	11	23,386,020 (GRCm39)	missense	probably damaging	0.98
IGL00477:Usp34	APN	11	23,418,879 (GRCm39)	missense	probably damaging	0.99
IGL01307:Usp34	APN	11	23,367,676 (GRCm39)	missense	probably damaging	0.99
IGL01313:Usp34	APN	11	23,423,206 (GRCm39)	missense	probably damaging	1.00
IGL01826:Usp34	APN	11	23,386,020 (GRCm39)	missense	probably damaging	0.98
IGL01827:Usp34	APN	11	23,386,020 (GRCm39)	missense	probably damaging	0.98
IGL01830:Usp34	APN	11	23,386,020 (GRCm39)	missense	probably damaging	0.98
IGL01867:Usp34	APN	11	23,334,411 (GRCm39)	missense	possibly damaging	0.77
IGL01939:Usp34	APN	11	23,295,141 (GRCm39)	splice site	probably benign
IGL01977:Usp34	APN	11	23,402,661 (GRCm39)	missense	probably damaging	1.00
IGL01985:Usp34	APN	11	23,402,565 (GRCm39)	missense	probably damaging	1.00
IGL02011:Usp34	APN	11	23,421,554 (GRCm39)	missense	probably damaging	0.99
IGL02302:Usp34	APN	11	23,417,243 (GRCm39)	missense	possibly damaging	0.91
IGL02423:Usp34	APN	11	23,304,900 (GRCm39)	missense	probably benign	0.11
IGL02491:Usp34	APN	11	23,382,630 (GRCm39)	missense	probably damaging	0.98
IGL02532:Usp34	APN	11	23,320,291 (GRCm39)	missense	probably damaging	0.99
IGL02561:Usp34	APN	11	23,301,652 (GRCm39)	missense	probably benign	0.09
IGL02706:Usp34	APN	11	23,338,659 (GRCm39)	splice site	probably benign
IGL02891:Usp34	APN	11	23,437,166 (GRCm39)	missense	probably benign	0.09
IGL03079:Usp34	APN	11	23,382,247 (GRCm39)	missense	possibly damaging	0.48
IGL03089:Usp34	APN	11	23,396,958 (GRCm39)	missense	possibly damaging	0.84
IGL03175:Usp34	APN	11	23,438,686 (GRCm39)	missense	probably benign
IGL03256:Usp34	APN	11	23,370,090 (GRCm39)	nonsense	probably null
IGL03280:Usp34	APN	11	23,304,897 (GRCm39)	missense	probably damaging	1.00
IGL03289:Usp34	APN	11	23,343,818 (GRCm39)	missense	possibly damaging	0.94
IGL03408:Usp34	APN	11	23,396,957 (GRCm39)	missense	possibly damaging	0.92
Chub	UTSW	11	23,414,686 (GRCm39)	missense	probably damaging	0.99
Cicione	UTSW	11	23,439,033 (GRCm39)	missense	possibly damaging	0.85
R5571_Usp34_680	UTSW	11	23,407,975 (GRCm39)	missense	probably damaging	0.99
R5713_Usp34_003	UTSW	11	23,293,515 (GRCm39)	missense	possibly damaging	0.94
Roebuck	UTSW	11	23,436,810 (GRCm39)	splice site	probably benign
stoat	UTSW	11	23,437,203 (GRCm39)	missense
tunnelvision	UTSW	11	23,396,968 (GRCm39)	missense
I2288:Usp34	UTSW	11	23,382,473 (GRCm39)	splice site	probably benign
R0047:Usp34	UTSW	11	23,414,403 (GRCm39)	missense	probably benign	0.34
R0047:Usp34	UTSW	11	23,414,403 (GRCm39)	missense	probably benign	0.34
R0099:Usp34	UTSW	11	23,313,111 (GRCm39)	missense	probably damaging	1.00
R0240:Usp34	UTSW	11	23,383,206 (GRCm39)	missense	probably damaging	0.99
R0240:Usp34	UTSW	11	23,383,206 (GRCm39)	missense	probably damaging	0.99
R0403:Usp34	UTSW	11	23,283,838 (GRCm39)	missense	possibly damaging	0.82
R0432:Usp34	UTSW	11	23,351,505 (GRCm39)	missense	probably damaging	0.99
R0446:Usp34	UTSW	11	23,417,207 (GRCm39)	missense	probably damaging	0.97
R0455:Usp34	UTSW	11	23,396,741 (GRCm39)	splice site	probably benign
R0470:Usp34	UTSW	11	23,386,001 (GRCm39)	missense	possibly damaging	0.94
R0472:Usp34	UTSW	11	23,334,509 (GRCm39)	splice site	probably benign
R0512:Usp34	UTSW	11	23,401,997 (GRCm39)	missense	probably benign	0.04
R0557:Usp34	UTSW	11	23,353,848 (GRCm39)	missense	probably damaging	0.98
R0562:Usp34	UTSW	11	23,382,406 (GRCm39)	splice site	probably benign
R0656:Usp34	UTSW	11	23,422,967 (GRCm39)	missense	probably damaging	0.99
R0693:Usp34	UTSW	11	23,402,637 (GRCm39)	missense	probably damaging	0.97
R0739:Usp34	UTSW	11	23,417,243 (GRCm39)	missense	possibly damaging	0.91
R1061:Usp34	UTSW	11	23,334,420 (GRCm39)	missense	possibly damaging	0.51
R1078:Usp34	UTSW	11	23,383,175 (GRCm39)	splice site	probably benign
R1223:Usp34	UTSW	11	23,396,464 (GRCm39)	splice site	probably null
R1295:Usp34	UTSW	11	23,334,477 (GRCm39)	missense	probably damaging	1.00
R1430:Usp34	UTSW	11	23,409,151 (GRCm39)	missense	probably damaging	0.97
R1445:Usp34	UTSW	11	23,301,629 (GRCm39)	missense	probably damaging	0.99
R1468:Usp34	UTSW	11	23,391,171 (GRCm39)	missense	probably damaging	1.00
R1468:Usp34	UTSW	11	23,391,171 (GRCm39)	missense	probably damaging	1.00
R1471:Usp34	UTSW	11	23,438,862 (GRCm39)	missense	probably benign	0.20
R1475:Usp34	UTSW	11	23,423,253 (GRCm39)	missense	probably damaging	0.99
R1628:Usp34	UTSW	11	23,438,725 (GRCm39)	missense	probably damaging	1.00
R1631:Usp34	UTSW	11	23,410,651 (GRCm39)	missense	probably damaging	0.99
R1655:Usp34	UTSW	11	23,325,051 (GRCm39)	missense	probably benign	0.05
R1741:Usp34	UTSW	11	23,314,103 (GRCm39)	missense	probably benign	0.00
R1854:Usp34	UTSW	11	23,376,153 (GRCm39)	missense	probably benign	0.24
R1867:Usp34	UTSW	11	23,311,593 (GRCm39)	missense	possibly damaging	0.82
R1869:Usp34	UTSW	11	23,314,479 (GRCm39)	missense	probably benign	0.37
R1870:Usp34	UTSW	11	23,314,479 (GRCm39)	missense	probably benign	0.37
R1871:Usp34	UTSW	11	23,314,479 (GRCm39)	missense	probably benign	0.37
R1967:Usp34	UTSW	11	23,314,503 (GRCm39)	missense	probably benign	0.01
R2051:Usp34	UTSW	11	23,414,468 (GRCm39)	missense	probably damaging	0.97
R2132:Usp34	UTSW	11	23,414,556 (GRCm39)	missense	possibly damaging	0.95
R2156:Usp34	UTSW	11	23,332,602 (GRCm39)	missense	probably damaging	0.98
R2205:Usp34	UTSW	11	23,335,147 (GRCm39)	missense	probably damaging	0.97
R2342:Usp34	UTSW	11	23,353,599 (GRCm39)	missense	possibly damaging	0.46
R3431:Usp34	UTSW	11	23,320,466 (GRCm39)	missense	possibly damaging	0.95
R3812:Usp34	UTSW	11	23,414,517 (GRCm39)	missense	possibly damaging	0.94
R3872:Usp34	UTSW	11	23,439,033 (GRCm39)	missense	possibly damaging	0.85
R3873:Usp34	UTSW	11	23,439,033 (GRCm39)	missense	possibly damaging	0.85
R3874:Usp34	UTSW	11	23,439,033 (GRCm39)	missense	possibly damaging	0.85
R3875:Usp34	UTSW	11	23,439,033 (GRCm39)	missense	possibly damaging	0.85
R3925:Usp34	UTSW	11	23,293,640 (GRCm39)	missense	probably benign	0.28
R3972:Usp34	UTSW	11	23,407,803 (GRCm39)	missense	probably damaging	1.00
R4018:Usp34	UTSW	11	23,439,033 (GRCm39)	missense	possibly damaging	0.85
R4042:Usp34	UTSW	11	23,439,033 (GRCm39)	missense	possibly damaging	0.85
R4155:Usp34	UTSW	11	23,367,676 (GRCm39)	missense	probably damaging	0.99
R4197:Usp34	UTSW	11	23,394,189 (GRCm39)	missense	probably damaging	0.98
R4352:Usp34	UTSW	11	23,270,727 (GRCm39)	missense	possibly damaging	0.73
R4379:Usp34	UTSW	11	23,334,499 (GRCm39)	missense	possibly damaging	0.52
R4444:Usp34	UTSW	11	23,385,998 (GRCm39)	missense	probably damaging	0.98
R4475:Usp34	UTSW	11	23,407,975 (GRCm39)	missense	possibly damaging	0.95
R4501:Usp34	UTSW	11	23,351,529 (GRCm39)	missense	probably damaging	1.00
R4527:Usp34	UTSW	11	23,371,257 (GRCm39)	missense	possibly damaging	0.57
R4603:Usp34	UTSW	11	23,414,633 (GRCm39)	missense	probably damaging	0.97
R4612:Usp34	UTSW	11	23,382,268 (GRCm39)	missense	probably damaging	0.99
R4673:Usp34	UTSW	11	23,314,480 (GRCm39)	small deletion	probably benign
R4707:Usp34	UTSW	11	23,437,215 (GRCm39)	missense	probably damaging	1.00
R4736:Usp34	UTSW	11	23,343,749 (GRCm39)	splice site	probably null
R4867:Usp34	UTSW	11	23,401,999 (GRCm39)	missense	probably benign	0.28
R4879:Usp34	UTSW	11	23,323,410 (GRCm39)	missense	possibly damaging	0.94
R4977:Usp34	UTSW	11	23,438,982 (GRCm39)	missense	probably damaging	1.00
R5004:Usp34	UTSW	11	23,414,586 (GRCm39)	missense	probably damaging	1.00
R5057:Usp34	UTSW	11	23,408,086 (GRCm39)	intron	probably benign
R5068:Usp34	UTSW	11	23,410,665 (GRCm39)	missense	possibly damaging	0.94
R5304:Usp34	UTSW	11	23,293,616 (GRCm39)	missense	probably damaging	1.00
R5320:Usp34	UTSW	11	23,283,739 (GRCm39)	missense	probably benign
R5327:Usp34	UTSW	11	23,418,846 (GRCm39)	missense	probably damaging	1.00
R5328:Usp34	UTSW	11	23,438,659 (GRCm39)	missense	probably benign	0.04
R5328:Usp34	UTSW	11	23,414,616 (GRCm39)	missense	probably benign	0.01
R5390:Usp34	UTSW	11	23,394,202 (GRCm39)	critical splice donor site	probably null
R5434:Usp34	UTSW	11	23,362,271 (GRCm39)	missense	probably damaging	0.99
R5523:Usp34	UTSW	11	23,299,198 (GRCm39)	missense	probably benign	0.39
R5567:Usp34	UTSW	11	23,438,336 (GRCm39)	missense	probably damaging	0.97
R5571:Usp34	UTSW	11	23,407,975 (GRCm39)	missense	probably damaging	0.99
R5645:Usp34	UTSW	11	23,325,024 (GRCm39)	missense	possibly damaging	0.86
R5713:Usp34	UTSW	11	23,293,515 (GRCm39)	missense	possibly damaging	0.94
R5719:Usp34	UTSW	11	23,304,846 (GRCm39)	missense	probably benign	0.00
R5813:Usp34	UTSW	11	23,371,340 (GRCm39)	missense	probably benign	0.38
R5921:Usp34	UTSW	11	23,414,686 (GRCm39)	missense	probably damaging	0.99
R5928:Usp34	UTSW	11	23,386,040 (GRCm39)	missense	probably damaging	0.98
R5944:Usp34	UTSW	11	23,313,089 (GRCm39)	missense	probably damaging	1.00
R6198:Usp34	UTSW	11	23,434,127 (GRCm39)	missense	probably damaging	1.00
R6229:Usp34	UTSW	11	23,396,778 (GRCm39)	missense	probably damaging	0.99
R6306:Usp34	UTSW	11	23,362,260 (GRCm39)	missense	possibly damaging	0.94
R6320:Usp34	UTSW	11	23,402,520 (GRCm39)	missense	probably damaging	0.98
R6341:Usp34	UTSW	11	23,331,353 (GRCm39)	missense	probably damaging	0.97
R6374:Usp34	UTSW	11	23,388,914 (GRCm39)	missense	probably damaging	1.00
R6398:Usp34	UTSW	11	23,438,666 (GRCm39)	missense	probably benign
R6438:Usp34	UTSW	11	23,314,266 (GRCm39)	missense	probably benign	0.02
R6668:Usp34	UTSW	11	23,410,659 (GRCm39)	missense	probably damaging	0.97
R6700:Usp34	UTSW	11	23,389,011 (GRCm39)	missense	probably damaging	1.00
R6783:Usp34	UTSW	11	23,362,318 (GRCm39)	missense	probably damaging	1.00
R6821:Usp34	UTSW	11	23,317,491 (GRCm39)	missense	possibly damaging	0.79
R6855:Usp34	UTSW	11	23,402,569 (GRCm39)	missense	possibly damaging	0.94
R6916:Usp34	UTSW	11	23,408,023 (GRCm39)	missense	probably damaging	0.98
R7020:Usp34	UTSW	11	23,343,954 (GRCm39)	missense	probably benign	0.05
R7026:Usp34	UTSW	11	23,311,622 (GRCm39)	missense	probably damaging	1.00
R7085:Usp34	UTSW	11	23,313,097 (GRCm39)	missense
R7101:Usp34	UTSW	11	23,376,183 (GRCm39)	missense
R7168:Usp34	UTSW	11	23,414,585 (GRCm39)	missense
R7192:Usp34	UTSW	11	23,410,571 (GRCm39)	missense
R7264:Usp34	UTSW	11	23,283,566 (GRCm39)	missense	probably benign	0.00
R7325:Usp34	UTSW	11	23,369,052 (GRCm39)	missense
R7343:Usp34	UTSW	11	23,438,868 (GRCm39)	missense
R7358:Usp34	UTSW	11	23,311,683 (GRCm39)	missense	probably damaging	0.99
R7369:Usp34	UTSW	11	23,382,361 (GRCm39)	missense
R7389:Usp34	UTSW	11	23,295,200 (GRCm39)	missense
R7459:Usp34	UTSW	11	23,314,458 (GRCm39)	missense	possibly damaging	0.53
R7517:Usp34	UTSW	11	23,396,968 (GRCm39)	missense
R7729:Usp34	UTSW	11	23,399,268 (GRCm39)	missense
R7777:Usp34	UTSW	11	23,332,638 (GRCm39)	missense
R7810:Usp34	UTSW	11	23,362,314 (GRCm39)	missense
R7836:Usp34	UTSW	11	23,396,614 (GRCm39)	missense
R7862:Usp34	UTSW	11	23,414,718 (GRCm39)	missense
R7993:Usp34	UTSW	11	23,327,622 (GRCm39)	missense
R8050:Usp34	UTSW	11	23,396,787 (GRCm39)	missense
R8054:Usp34	UTSW	11	23,311,295 (GRCm39)	missense
R8239:Usp34	UTSW	11	23,396,750 (GRCm39)	missense
R8266:Usp34	UTSW	11	23,436,810 (GRCm39)	splice site	probably benign
R8347:Usp34	UTSW	11	23,362,345 (GRCm39)	missense
R8409:Usp34	UTSW	11	23,407,811 (GRCm39)	missense
R8692:Usp34	UTSW	11	23,379,325 (GRCm39)	missense
R8694:Usp34	UTSW	11	23,434,161 (GRCm39)	missense
R8734:Usp34	UTSW	11	23,394,184 (GRCm39)	missense
R8806:Usp34	UTSW	11	23,434,143 (GRCm39)	missense
R8914:Usp34	UTSW	11	23,293,604 (GRCm39)	missense
R8987:Usp34	UTSW	11	23,414,267 (GRCm39)	missense
R9013:Usp34	UTSW	11	23,320,302 (GRCm39)	missense
R9108:Usp34	UTSW	11	23,320,528 (GRCm39)	missense
R9264:Usp34	UTSW	11	23,439,064 (GRCm39)	missense
R9301:Usp34	UTSW	11	23,422,951 (GRCm39)	missense
R9375:Usp34	UTSW	11	23,437,203 (GRCm39)	missense
R9385:Usp34	UTSW	11	23,399,223 (GRCm39)	missense
R9500:Usp34	UTSW	11	23,331,337 (GRCm39)	missense	probably damaging	0.99
R9566:Usp34	UTSW	11	23,317,529 (GRCm39)	missense
R9629:Usp34	UTSW	11	23,314,364 (GRCm39)	missense
R9679:Usp34	UTSW	11	23,394,369 (GRCm39)	missense
R9680:Usp34	UTSW	11	23,317,385 (GRCm39)	missense	possibly damaging	0.94
R9686:Usp34	UTSW	11	23,424,351 (GRCm39)	missense
R9752:Usp34	UTSW	11	23,409,182 (GRCm39)	missense	probably benign	0.11
X0023:Usp34	UTSW	11	23,325,028 (GRCm39)	missense	possibly damaging	0.73
X0057:Usp34	UTSW	11	23,407,824 (GRCm39)	missense	possibly damaging	0.86
Z1176:Usp34	UTSW	11	23,423,221 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16