Mutagenetix > Incidental Mutation

Incidental Mutation 'R6477:Ubqln5'

516843

Institutional Source

Beutler Lab

Gene Symbol

Ubqln5

Ensembl Gene

ENSMUSG00000055643

Gene Name

ubiquilin 5

Synonyms

4931431F19Rik

MMRRC Submission

044609-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R6477 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103777120-103779030 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 103777465 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 453 (S453F)

Ref Sequence

ENSEMBL: ENSMUSP00000062054 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053743] [ENSMUST00000138055]

AlphaFold

Q9D4I8

PDB Structure

Solution Structure of RSGI RUH-016, a UBA Domain from mouse cDNA [SOLUTION NMR]
Solution Structure of the N-terminal Ubiquitin-like Domain in the 4931431F19Rik Protein [SOLUTION NMR]

Predicted Effect

probably damaging
Transcript: ENSMUST00000053743
AA Change: S453F

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000062054
Gene: ENSMUSG00000055643
AA Change: S453F

Domain	Start	End	E-Value	Type
UBQ	24	94	7.97e-13	SMART
low complexity region	365	376	N/A	INTRINSIC
UBA	468	506	2.14e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000138055

SMART Domains

Protein: ENSMUSP00000139240
Gene: ENSMUSG00000109824

Domain	Start	End	E-Value	Type
transmembrane domain	29	51	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.1%

Validation Efficiency

97% (60/62)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	T	C	11: 119,909,696 (GRCm39)	D23G	probably benign	Het
Abca14	T	C	7: 119,924,325 (GRCm39)	I1659T	probably benign	Het
Ankdd1a	C	T	9: 65,409,494 (GRCm39)	V481M	probably benign	Het
Ankfy1	G	A	11: 72,621,308 (GRCm39)	R198Q	possibly damaging	Het
Cfap161	T	A	7: 83,443,230 (GRCm39)	R20*	probably null	Het
Cops7a	A	T	6: 124,937,139 (GRCm39)	V184E	probably damaging	Het
Cpa3	T	C	3: 20,293,739 (GRCm39)	E83G	possibly damaging	Het
Crls1	C	T	2: 132,703,153 (GRCm39)	S201L	probably benign	Het
Cyp4f39	C	A	17: 32,700,791 (GRCm39)	S153R	probably damaging	Het
Ddx54	T	A	5: 120,759,843 (GRCm39)	I410N	probably damaging	Het
Dido1	T	A	2: 180,302,274 (GRCm39)	T1877S	probably benign	Het
Dip2c	A	G	13: 9,673,796 (GRCm39)	S1079G	probably damaging	Het
Dnhd1	G	A	7: 105,327,093 (GRCm39)	V681I	probably benign	Het
Dst	A	G	1: 34,247,809 (GRCm39)		probably null	Het
Eya2	A	G	2: 165,605,681 (GRCm39)	T362A	probably benign	Het
Garre1	A	G	7: 33,957,055 (GRCm39)		probably null	Het
Hgs	G	A	11: 120,360,481 (GRCm39)	V60M	probably damaging	Het
Inpp4b	A	G	8: 82,571,343 (GRCm39)		probably null	Het
Iqub	T	A	6: 24,449,744 (GRCm39)	N707I	probably damaging	Het
Kdr	C	A	5: 76,129,501 (GRCm39)	A129S	probably benign	Het
Lhcgr	A	T	17: 89,049,801 (GRCm39)	M575K	probably damaging	Het
Lsamp	G	T	16: 41,988,528 (GRCm39)		probably benign	Het
Mcm5	T	C	8: 75,839,230 (GRCm39)	V161A	probably benign	Het
Mmp14	A	T	14: 54,675,115 (GRCm39)	H249L	probably damaging	Het
Mroh5	A	G	15: 73,662,604 (GRCm39)	S405P	probably damaging	Het
Mroh9	C	A	1: 162,903,873 (GRCm39)	L46F	probably damaging	Het
Mtrr	A	T	13: 68,718,192 (GRCm39)	H357Q	probably damaging	Het
Myrf	G	A	19: 10,206,149 (GRCm39)	P89L	probably benign	Het
Mzb1	C	T	18: 35,781,311 (GRCm39)		probably null	Het
Naip6	A	G	13: 100,452,516 (GRCm39)	S182P	probably damaging	Het
Nmur2	A	T	11: 55,920,417 (GRCm39)	F276Y	probably damaging	Het
Nudt12	G	T	17: 59,318,140 (GRCm39)	S35Y	probably benign	Het
Or51h5	T	A	7: 102,577,585 (GRCm39)	V250E	probably damaging	Het
Or56b1	T	C	7: 104,284,886 (GRCm39)	S2P	probably benign	Het
Or9m1	A	G	2: 87,733,334 (GRCm39)	S229P	probably damaging	Het
Osbpl1a	T	C	18: 12,889,318 (GRCm39)	I541V	probably benign	Het
Parp4	A	G	14: 56,884,694 (GRCm39)	K1258E	probably benign	Het
Plcxd2	C	G	16: 45,801,022 (GRCm39)	K67N	probably damaging	Het
Pnpla6	A	G	8: 3,586,627 (GRCm39)	T930A	probably benign	Het
Pomt1	G	A	2: 32,138,728 (GRCm39)		probably null	Het
Ppp1r14bl	A	T	1: 23,140,861 (GRCm39)	L151Q	probably benign	Het
Pramel6	A	G	2: 87,340,946 (GRCm39)	Y426C	possibly damaging	Het
Prss27	A	G	17: 24,263,235 (GRCm39)	T83A	probably damaging	Het
Rbm27	T	A	18: 42,466,383 (GRCm39)	V915E	probably damaging	Het
Rnf114	T	A	2: 167,345,408 (GRCm39)	D10E	probably benign	Het
Sbk1	A	G	7: 125,890,350 (GRCm39)	E121G	probably damaging	Het
Senp6	A	T	9: 80,000,907 (GRCm39)	R39*	probably null	Het
Sergef	A	T	7: 46,283,250 (GRCm39)	I94N	probably benign	Het
Slc30a9	C	T	5: 67,485,867 (GRCm39)	R183W	probably benign	Het
Smurf1	C	T	5: 144,826,602 (GRCm39)	R414H	possibly damaging	Het
Sptb	A	T	12: 76,653,166 (GRCm39)	W1566R	probably damaging	Het
Tenm2	T	C	11: 35,901,334 (GRCm39)		probably null	Het
Tnni1	T	C	1: 135,733,304 (GRCm39)	V42A	probably benign	Het
Tnxb	A	G	17: 34,938,513 (GRCm39)	Y3098C	probably damaging	Het
Ubald2	T	C	11: 116,325,400 (GRCm39)	F46L	probably benign	Het
Ubr3	A	T	2: 69,809,773 (GRCm39)	R1248*	probably null	Het
Utp20	A	G	10: 88,604,780 (GRCm39)	V1705A	probably benign	Het
Zfp60	G	A	7: 27,449,228 (GRCm39)	R632H	probably benign	Het
Zfp638	A	G	6: 83,942,560 (GRCm39)	Y957C	probably damaging	Het
Zfp825	A	T	13: 74,629,029 (GRCm39)	S162R	possibly damaging	Het
Zfp831	A	C	2: 174,545,960 (GRCm39)	K1355T	probably benign	Het

Other mutations in Ubqln5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01761:Ubqln5	APN	7	103,777,634 (GRCm39)	missense	possibly damaging	0.83
IGL02127:Ubqln5	APN	7	103,778,689 (GRCm39)	missense	probably damaging	0.99
IGL02565:Ubqln5	APN	7	103,778,279 (GRCm39)	nonsense	probably null
R1181:Ubqln5	UTSW	7	103,777,948 (GRCm39)	missense	probably damaging	0.99
R1962:Ubqln5	UTSW	7	103,778,134 (GRCm39)	missense	probably damaging	0.98
R1962:Ubqln5	UTSW	7	103,778,095 (GRCm39)	missense	possibly damaging	0.83
R1964:Ubqln5	UTSW	7	103,778,095 (GRCm39)	missense	possibly damaging	0.83
R1992:Ubqln5	UTSW	7	103,778,741 (GRCm39)	missense	probably damaging	1.00
R1998:Ubqln5	UTSW	7	103,777,948 (GRCm39)	missense	probably damaging	0.99
R3927:Ubqln5	UTSW	7	103,777,678 (GRCm39)	missense	probably damaging	1.00
R4831:Ubqln5	UTSW	7	103,778,829 (GRCm39)	intron	probably benign
R5699:Ubqln5	UTSW	7	103,778,632 (GRCm39)	missense	possibly damaging	0.78
R5840:Ubqln5	UTSW	7	103,778,161 (GRCm39)	missense	possibly damaging	0.83
R5858:Ubqln5	UTSW	7	103,778,018 (GRCm39)	missense	probably benign	0.17
R5907:Ubqln5	UTSW	7	103,777,781 (GRCm39)	missense	possibly damaging	0.55
R6602:Ubqln5	UTSW	7	103,778,696 (GRCm39)	missense	probably benign	0.07
R6919:Ubqln5	UTSW	7	103,778,215 (GRCm39)	missense	probably benign	0.15
R6981:Ubqln5	UTSW	7	103,777,808 (GRCm39)	missense	probably benign	0.29
R8153:Ubqln5	UTSW	7	103,778,011 (GRCm39)	missense	possibly damaging	0.52
R8712:Ubqln5	UTSW	7	103,778,322 (GRCm39)	missense	probably benign	0.04
R8787:Ubqln5	UTSW	7	103,778,329 (GRCm39)	missense	probably benign	0.01
R9398:Ubqln5	UTSW	7	103,777,985 (GRCm39)	missense	probably benign	0.05
X0028:Ubqln5	UTSW	7	103,778,615 (GRCm39)	missense	probably damaging	1.00
Z1088:Ubqln5	UTSW	7	103,778,178 (GRCm39)	missense	possibly damaging	0.83
Z1176:Ubqln5	UTSW	7	103,778,125 (GRCm39)	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- AGAATGGTGCAATCGTGGGC -3'
(R):5'- GAAGGCCTACAGATACTATCCAGG -3'

Sequencing Primer
(F):5'- TCAAATGGAGAGACTAATCCTGC -3'
(R):5'- ATACTATCCAGGGAGGTGCCTG -3'

Posted On

2018-05-21