Mutagenetix > Incidental Mutation

Incidental Mutation 'R1181:Ubqln5'

101574

Institutional Source

Beutler Lab

Gene Symbol

Ubqln5

Ensembl Gene

ENSMUSG00000055643

Gene Name

ubiquilin 5

Synonyms

4931431F19Rik

MMRRC Submission

039253-MU

Accession Numbers

Essential gene?

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

Stock #

R1181 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103777120-103779030 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103777948 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 292 (Q292L)

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: Q292L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000062054
Gene: ENSMUSG00000055643
AA Change: Q292L

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 97.9%
10x: 93.9%
20x: 84.2%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn3	T	A	19: 4,922,638 (GRCm39)	Q64L	probably benign	Het
Ankrd12	T	C	17: 66,349,569 (GRCm39)	N88S	probably benign	Het
Apcdd1	A	T	18: 63,070,168 (GRCm39)	Y145F	probably damaging	Het
Bnipl	C	A	3: 95,152,960 (GRCm39)		probably null	Het
Bod1	T	C	11: 31,616,943 (GRCm39)		probably benign	Het
Cbarp	G	T	10: 79,971,328 (GRCm39)	H166N	probably damaging	Het
Cdr2l	T	A	11: 115,285,005 (GRCm39)	I447N	probably damaging	Het
Cped1	T	G	6: 22,215,561 (GRCm39)	I698M	probably damaging	Het
Ecm1	G	A	3: 95,642,662 (GRCm39)	H404Y	possibly damaging	Het
Ehbp1	C	T	11: 22,012,831 (GRCm39)	V902I	probably benign	Het
Eps8	T	C	6: 137,499,852 (GRCm39)	Q209R	possibly damaging	Het
Fastk	C	T	5: 24,646,729 (GRCm39)		probably null	Het
Gm6797	T	A	X: 8,508,004 (GRCm39)		noncoding transcript	Het
Gp1ba	C	T	11: 70,532,253 (GRCm39)	P673L	probably damaging	Het
Gstm1	A	G	3: 107,922,127 (GRCm39)	F170S	probably damaging	Het
Hgf	G	C	5: 16,823,923 (GRCm39)	G707R	probably damaging	Het
Klhl5	T	C	5: 65,320,228 (GRCm39)	M594T	probably damaging	Het
Kyat3	A	C	3: 142,443,531 (GRCm39)		probably null	Het
Mettl14	C	T	3: 123,167,651 (GRCm39)	G236S	probably damaging	Het
Nob1	G	A	8: 108,148,122 (GRCm39)	P107S	probably damaging	Het
Nup58	A	T	14: 60,482,119 (GRCm39)		probably benign	Het
Or2a56	T	A	6: 42,932,492 (GRCm39)	L20Q	probably benign	Het
Or52e7	T	A	7: 104,685,021 (GRCm39)	N205K	probably damaging	Het
Or52n4b	C	A	7: 108,144,509 (GRCm39)	T257N	probably benign	Het
Or5b109	C	A	19: 13,212,195 (GRCm39)	H194N	probably benign	Het
Or5d16	G	A	2: 87,773,490 (GRCm39)	L161F	probably benign	Het
Or6c65	A	G	10: 129,604,033 (GRCm39)	I223V	probably benign	Het
Pald1	A	G	10: 61,183,366 (GRCm39)		probably benign	Het
Pds5a	A	T	5: 65,784,545 (GRCm39)		probably null	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Plekha2	A	C	8: 25,549,218 (GRCm39)	S189A	probably benign	Het
Prune2	T	C	19: 17,100,469 (GRCm39)	V1991A	probably benign	Het
Sec61g	A	C	11: 16,454,722 (GRCm39)		probably benign	Het
Serinc3	T	C	2: 163,467,446 (GRCm39)	K445R	probably damaging	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Slfn8	T	C	11: 82,907,571 (GRCm39)	E324G	probably benign	Het
Spink13	A	G	18: 62,741,241 (GRCm39)		probably benign	Het
Tas2r121	A	T	6: 132,677,132 (GRCm39)	I280N	probably damaging	Het
Tbc1d7	T	C	13: 43,306,615 (GRCm39)	I242M	probably damaging	Het
Tenm2	C	T	11: 35,954,004 (GRCm39)	G1236R	possibly damaging	Het
Tnni3k	A	T	3: 154,581,150 (GRCm39)	H600Q	probably damaging	Het
Trim66	C	T	7: 109,083,784 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,800,047 (GRCm39)	I387N	probably damaging	Het
Tulp3	A	T	6: 128,302,915 (GRCm39)	H301Q	possibly damaging	Het
Zfp454	T	C	11: 50,764,413 (GRCm39)	K229E	probably damaging	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
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
R6477:Ubqln5	UTSW	7	103,777,465 (GRCm39)	missense	probably damaging	0.97
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'- TGCCAACTGATGTGCCAGAGATG -3'
(R):5'- GCAGGAAGTTCTCCAGGAACACAAG -3'

Sequencing Primer
(F):5'- CCAGAGATGGATTCTGCTGC -3'
(R):5'- GGTGACAACGCTATGCATCC -3'

Posted On

2014-01-15