Mutagenetix > Incidental Mutation

Incidental Mutation 'R8712:Ubqln5'

669641

Institutional Source

Beutler Lab

Gene Symbol

Ubqln5

Ensembl Gene

ENSMUSG00000055643

Gene Name

ubiquilin 5

Synonyms

4931431F19Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R8712 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104127912-104129826 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 104129115 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 167 (K167N)

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: K167N

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000062054
Gene: ENSMUSG00000055643
AA Change: K167N

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: 99.2%

Validation Efficiency

100% (75/75)

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts1	A	T	16: 85,798,008	N617K	probably benign	Het
Adnp2	A	T	18: 80,130,970	C75S	probably damaging	Het
Agmo	T	C	12: 37,357,674	F186L	possibly damaging	Het
Ahnak2	T	C	12: 112,786,252	Y122C		Het
Ahnak2	T	C	12: 112,787,089	E71G		Het
Aldh5a1	A	G	13: 24,918,541	V313A	probably damaging	Het
Ankib1	C	A	5: 3,772,643	C21F	probably benign	Het
Aqr	A	G	2: 114,118,877	Y947H	probably damaging	Het
Atp1a2	T	A	1: 172,275,980	Y991F	probably benign	Het
Atp8b3	G	A	10: 80,530,089	T309M	possibly damaging	Het
Blzf1	T	A	1: 164,298,290	D259V	possibly damaging	Het
Cacng5	T	C	11: 107,881,684	I113V	probably benign	Het
Catsper3	T	C	13: 55,805,844	M269T	probably benign	Het
Ccdc142	A	C	6: 83,102,252	Y190S	probably damaging	Het
Ccdc159	C	A	9: 21,933,755	Q306K	probably benign	Het
Ccdc180	A	T	4: 45,920,842		probably null	Het
Cebpz	A	G	17: 78,921,652	F955S	possibly damaging	Het
Cftr	C	T	6: 18,274,697	T938I	probably damaging	Het
Col28a1	T	C	6: 8,013,133	K973R	probably benign	Het
Cyp2c29	T	C	19: 39,321,694		probably benign	Het
Ddx1	A	G	12: 13,243,858		probably benign	Het
Duox2	A	C	2: 122,289,345	Y867*	probably null	Het
Ereg	T	C	5: 91,089,154	Y111H	possibly damaging	Het
Esrrb	T	A	12: 86,518,950	L417Q	probably damaging	Het
Fbxw7	G	A	3: 84,952,377	R2H	unknown	Het
Galnt6	C	T	15: 100,694,620	V569I	probably benign	Het
Gm14226	G	A	2: 155,024,174	C17Y	unknown	Het
Gpr150	T	G	13: 76,056,523	D101A	probably damaging	Het
Grm1	A	T	10: 10,689,552	L1004Q	probably benign	Het
Gtf2a1l	T	A	17: 88,714,923	D447E	probably damaging	Het
Gtf2ird1	C	T	5: 134,415,210	V64M	probably damaging	Het
Ifi206	A	T	1: 173,480,508	W641R		Het
Ifi214	T	A	1: 173,527,920	E107D	possibly damaging	Het
Kif19a	T	C	11: 114,784,773	V357A	probably damaging	Het
Klhdc7b	T	A	15: 89,386,822	S636T	probably benign	Het
Klhl25	C	T	7: 75,865,672	R109C	probably damaging	Het
Ltbp2	T	C	12: 84,806,350	E835G	probably benign	Het
March1	A	G	8: 66,468,348	K226E	probably damaging	Het
Mcpt1	T	C	14: 56,018,713		probably benign	Het
Myrf	C	A	19: 10,215,070	R639L	probably benign	Het
Naip5	T	C	13: 100,223,096	H544R	possibly damaging	Het
Nccrp1	T	C	7: 28,546,344	I132V	probably benign	Het
Nprl3	C	T	11: 32,237,334	V333I	possibly damaging	Het
Olfr1318	A	T	2: 112,156,589	I213F	probably damaging	Het
Olfr1385	T	A	11: 49,494,844	S104T	probably benign	Het
Olfr1394	T	C	11: 49,160,470	M152T	probably benign	Het
Olfr300-ps1	T	C	7: 86,443,715	S245P	probably damaging	Het
Olfr32	A	T	2: 90,138,770	I123N	probably damaging	Het
Olfr539	C	T	7: 140,668,139	S277L	possibly damaging	Het
Olfr648	T	C	7: 104,179,818	N197D	probably damaging	Het
Olfr680-ps1	C	A	7: 105,092,601	V73F	possibly damaging	Het
Olfr893	T	C	9: 38,209,803	V248A	probably benign	Het
Olfr974	T	C	9: 39,942,595	S112P	probably damaging	Het
Otx2	A	G	14: 48,659,064	M179T	probably damaging	Het
Pmfbp1	A	G	8: 109,538,677		probably benign	Het
Ppfia3	T	A	7: 45,361,705	T34S	probably benign	Het
Prkcsh	T	C	9: 22,013,079	Y502H	probably damaging	Het
Psd	T	C	19: 46,313,336	E937G	probably damaging	Het
Rbbp6	T	A	7: 123,001,753	I1661N	unknown	Het
Rhobtb1	T	A	10: 69,270,757	M446K	probably damaging	Het
Sall3	T	C	18: 80,974,021	I231V	probably benign	Het
Slc12a9	C	T	5: 137,327,654	V270I	probably damaging	Het
Slc6a15	A	G	10: 103,389,251	K67E	probably damaging	Het
Slc9c1	A	G	16: 45,560,283	D524G	probably benign	Het
Smpdl3a	A	G	10: 57,811,430	D418G	probably benign	Het
Sox6	T	C	7: 115,597,508	T296A	probably benign	Het
Ssu2	T	C	6: 112,384,438	E19G	probably damaging	Het
Tctn3	T	C	19: 40,611,726	N90S	probably damaging	Het
Tex24	A	G	8: 27,344,624	Q60R	possibly damaging	Het
Tlcd1	T	A	11: 78,179,644	*128R	probably null	Het
Tti1	A	C	2: 157,993,010	L1010R	probably damaging	Het
Ttn	A	G	2: 76,737,338	L27737P	probably damaging	Het
Unkl	A	G	17: 25,231,715	I492V	possibly damaging	Het
Vmn1r8	G	A	6: 57,036,680	V239I	probably benign	Het
Vmn2r101	T	A	17: 19,591,135	L494I	probably benign	Het
Vmn2r54	G	T	7: 12,635,950	T62K	probably benign	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
R8787:Ubqln5	UTSW	7	104129122	missense	probably benign	0.01
R9398:Ubqln5	UTSW	7	104128778	missense	probably benign	0.05
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'- GGATGCATAGCGTTGTCACC -3'
(R):5'- AGTGAGGTCTCATTTGAAAGGG -3'

Sequencing Primer
(F):5'- ATAGCGTTGTCACCCCCTGG -3'
(R):5'- CTCATTTGAAAGGGTCAGCCTGTAC -3'

Posted On

2021-04-30