Mutagenetix > Incidental Mutation

Incidental Mutation 'R9398:Ubqln5'

710941

Institutional Source

Beutler Lab

Gene Symbol

Ubqln5

Ensembl Gene

ENSMUSG00000055643

Gene Name

ubiquilin 5

Synonyms

4931431F19Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R9398 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104127912-104129826 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104128778 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 280 (T280A)

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 benign
Transcript: ENSMUST00000053743
AA Change: T280A

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000062054
Gene: ENSMUSG00000055643
AA Change: T280A

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvrl1	A	T	15: 101,137,043	K228*	probably null	Het
Adrb2	T	C	18: 62,179,205	D183G	probably benign	Het
Ap1m2	A	G	9: 21,305,639	Y134H	probably damaging	Het
Arid5a	A	G	1: 36,318,992	T217A	probably benign	Het
Cdnf	C	T	2: 3,521,038	T89I	possibly damaging	Het
Cntnap3	G	A	13: 64,903,834	R3W	probably benign	Het
Col6a6	A	G	9: 105,774,626	I1062T	probably benign	Het
Ctss	T	C	3: 95,546,947	F270S	possibly damaging	Het
Ddhd1	C	T	14: 45,657,660	G118R	possibly damaging	Het
Ddx11	A	G	17: 66,129,917	K69E	probably benign	Het
Dgkb	G	A	12: 38,139,658	G328D	probably damaging	Het
Dock1	C	T	7: 135,172,499	T1852M	probably damaging	Het
Gm19410	T	C	8: 35,805,202	Y1346H	probably benign	Het
Gm6614	A	G	6: 141,994,785	S137P	possibly damaging	Het
Gprin1	G	T	13: 54,739,570	T297N	probably damaging	Het
Gramd1c	A	G	16: 44,013,018	F187S	probably damaging	Het
Gse1	A	G	8: 120,576,335	N1072D	unknown	Het
Gtf3c6	G	A	10: 40,257,524		probably benign	Het
Hipk3	T	A	2: 104,433,217	T897S	probably benign	Het
Igsf21	T	A	4: 140,246,451		probably benign	Het
Itgb1	A	G	8: 128,726,124	I757V	probably damaging	Het
Lamb2	C	T	9: 108,487,167	R1102W	possibly damaging	Het
Lzts2	T	G	19: 45,024,769	C374W	unknown	Het
Mapk10	A	T	5: 102,913,286	S462T	probably damaging	Het
Mtcl1	A	T	17: 66,448,467	D293E	possibly damaging	Het
Nf1	T	G	11: 79,547,192	H109Q	probably damaging	Het
Nlrp9b	T	C	7: 20,049,510	L926P	probably damaging	Het
Notch2	G	A	3: 98,102,352	D532N	probably damaging	Het
Olfm4	A	T	14: 80,011,809	Y122F	probably benign	Het
Olfr1001-ps1	T	C	2: 85,634,023	V198A	probably benign	Het
Olfr141	A	G	2: 86,806,816	L61P	possibly damaging	Het
Olfr502	T	C	7: 108,523,828	T41A	probably damaging	Het
Olfr569	A	G	7: 102,887,793	M120T	probably damaging	Het
Olfr603	T	A	7: 103,383,280	T241S	probably damaging	Het
Olfr684	A	T	7: 105,156,799	Y294*	probably null	Het
P2rx2	A	T	5: 110,340,272	M472K	probably benign	Het
Pbxip1	A	G	3: 89,447,634	K487E	probably benign	Het
Plxnb2	A	G	15: 89,160,919	V1108A	probably benign	Het
Polq	A	G	16: 37,061,032	N1186S	probably benign	Het
Por	T	A	5: 135,725,743	W6R	unknown	Het
Prex2	G	A	1: 11,136,804	V529I	probably benign	Het
Rgs6	T	G	12: 82,651,841	S5A	probably benign	Het
Rp9	G	T	9: 22,448,786	S171*	probably null	Het
Sec11c	T	A	18: 65,809,497	I47N	possibly damaging	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,467,570		probably benign	Het
Sh2b1	GACCAGCTCAGCCACGGG	GACCAGCTCAGCCACGGGTACCAGCTCAGCCACGGG	7: 126,467,574		probably benign	Het
Sh2b1	GCCACGGGGACCAGCTC	GCCACGGGGACCAGCTCATCCACGGGGACCAGCTC	7: 126,467,584		probably benign	Het
Sorcs1	A	G	19: 50,225,213	M692T	possibly damaging	Het
Sult1d1	T	A	5: 87,566,095	Q30L	probably benign	Het
Tcea2	A	G	2: 181,680,450	D15G	probably damaging	Het
Tep1	T	C	14: 50,828,972	S2344G	possibly damaging	Het
Ttc6	T	A	12: 57,737,618	Y1824*	probably null	Het
Ush1c	T	C	7: 46,220,510	R342G	probably benign	Het
Vmn1r185	T	A	7: 26,611,631	I150F	probably benign	Het
Vmn1r43	G	A	6: 89,869,895	T203M	probably damaging	Het
Vmn1r86	A	G	7: 13,102,334	M205T	probably damaging	Het
Vps13d	A	T	4: 145,170,386	Y321*	probably null	Het

Other mutations in Ubqln5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01761:Ubqln5	APN	7	104128427	missense	possibly damaging	0.83
IGL02127:Ubqln5	APN	7	104129482	missense	probably damaging	0.99
IGL02565:Ubqln5	APN	7	104129072	nonsense	probably null
R1181:Ubqln5	UTSW	7	104128741	missense	probably damaging	0.99
R1962:Ubqln5	UTSW	7	104128888	missense	possibly damaging	0.83
R1962:Ubqln5	UTSW	7	104128927	missense	probably damaging	0.98
R1964:Ubqln5	UTSW	7	104128888	missense	possibly damaging	0.83
R1992:Ubqln5	UTSW	7	104129534	missense	probably damaging	1.00
R1998:Ubqln5	UTSW	7	104128741	missense	probably damaging	0.99
R3927:Ubqln5	UTSW	7	104128471	missense	probably damaging	1.00
R4831:Ubqln5	UTSW	7	104129622	intron	probably benign
R5699:Ubqln5	UTSW	7	104129425	missense	possibly damaging	0.78
R5840:Ubqln5	UTSW	7	104128954	missense	possibly damaging	0.83
R5858:Ubqln5	UTSW	7	104128811	missense	probably benign	0.17
R5907:Ubqln5	UTSW	7	104128574	missense	possibly damaging	0.55
R6477:Ubqln5	UTSW	7	104128258	missense	probably damaging	0.97
R6602:Ubqln5	UTSW	7	104129489	missense	probably benign	0.07
R6919:Ubqln5	UTSW	7	104129008	missense	probably benign	0.15
R6981:Ubqln5	UTSW	7	104128601	missense	probably benign	0.29
R8153:Ubqln5	UTSW	7	104128804	missense	possibly damaging	0.52
R8712:Ubqln5	UTSW	7	104129115	missense	probably benign	0.04
R8787:Ubqln5	UTSW	7	104129122	missense	probably benign	0.01
X0028:Ubqln5	UTSW	7	104129408	missense	probably damaging	1.00
Z1088:Ubqln5	UTSW	7	104128971	missense	possibly damaging	0.83
Z1176:Ubqln5	UTSW	7	104128918	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- GTGCCAGAGATGGATTCTGCTG -3'
(R):5'- TATGCATCCCAGCTGCTCTG -3'

Sequencing Primer
(F):5'- AGATGGATTCTGCTGCAGGAC -3'
(R):5'- TGATATCCATCAGGTCATGCTC -3'

Posted On

2022-04-18