Mutagenetix > Incidental Mutation

Incidental Mutation 'R6602:Ubqln5'

525354

Institutional Source

Beutler Lab

Gene Symbol

Ubqln5

Ensembl Gene

ENSMUSG00000055643

Gene Name

ubiquilin 5

Synonyms

4931431F19Rik

Accession Numbers

Essential gene?

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

Stock #

R6602 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103777120-103779030 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103778696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 43 (S43C)

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: S43C

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000062054
Gene: ENSMUSG00000055643
AA Change: S43C

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: 97.6%
20x: 92.6%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	A	G	8: 125,365,993 (GRCm39)	L250P	probably damaging	Het
4921539E11Rik	T	C	4: 103,112,769 (GRCm39)	H12R	probably benign	Het
Abca4	A	C	3: 121,932,150 (GRCm39)	Q268P	probably benign	Het
Adgrf5	T	A	17: 43,761,195 (GRCm39)	N963K	probably benign	Het
Arl10	A	G	13: 54,726,750 (GRCm39)	D176G	probably damaging	Het
Btnl1	T	A	17: 34,604,722 (GRCm39)	M501K	probably damaging	Het
Ccdc162	G	T	10: 41,491,976 (GRCm39)	T1079K	probably benign	Het
Cd163	T	A	6: 124,288,594 (GRCm39)	W342R	probably damaging	Het
Cd70	T	C	17: 57,456,562 (GRCm39)	S14G	probably benign	Het
Chil4	C	A	3: 106,117,906 (GRCm39)	K121N	probably benign	Het
Csf1r	A	G	18: 61,243,497 (GRCm39)	D171G	possibly damaging	Het
Cyp4a31	A	T	4: 115,426,904 (GRCm39)		probably null	Het
Dapk1	A	T	13: 60,897,018 (GRCm39)	I746F	probably benign	Het
Erbb4	A	G	1: 68,409,662 (GRCm39)	S192P	probably damaging	Het
Exoc8	C	A	8: 125,623,150 (GRCm39)	V406L	probably damaging	Het
Fam168b	C	A	1: 34,875,822 (GRCm39)	G21V	probably damaging	Het
Greb1	A	T	12: 16,759,441 (GRCm39)	V652E	probably benign	Het
Ift88	A	G	14: 57,744,716 (GRCm39)	S745G	probably benign	Het
Il18bp	T	C	7: 101,665,237 (GRCm39)		probably benign	Het
Il6st	A	G	13: 112,640,947 (GRCm39)	T908A	probably damaging	Het
Klk1b11	A	G	7: 43,424,198 (GRCm39)	S6G	probably benign	Het
Mastl	T	C	2: 23,022,689 (GRCm39)	Y678C	probably benign	Het
Msra	A	T	14: 64,360,788 (GRCm39)	H184Q	probably benign	Het
Muc16	A	C	9: 18,520,772 (GRCm39)		probably null	Het
Myo3a	T	G	2: 22,467,799 (GRCm39)	L351R	probably damaging	Het
Npy5r	GCTGTGAAACACTG	GCTG	8: 67,134,192 (GRCm39)		probably null	Het
Or4d2	T	C	11: 87,784,478 (GRCm39)	T91A	probably benign	Het
Or7d11	C	T	9: 19,966,342 (GRCm39)	R139Q	probably benign	Het
Or7g18	A	G	9: 18,787,145 (GRCm39)	D174G	possibly damaging	Het
Pcdhb18	A	T	18: 37,623,533 (GRCm39)	I288F	probably damaging	Het
Pitpna	T	G	11: 75,511,141 (GRCm39)	V238G	possibly damaging	Het
Ppfibp1	T	A	6: 146,879,719 (GRCm39)	V81E	possibly damaging	Het
Rab11fip2	T	A	19: 59,931,288 (GRCm39)	T49S	probably damaging	Het
Rsl24d1	T	A	9: 73,020,792 (GRCm39)	I3N	possibly damaging	Het
Rtn1	T	C	12: 72,266,092 (GRCm39)	N161S	probably damaging	Het
Shank1	A	G	7: 44,001,760 (GRCm39)	I1151V	probably benign	Het
Slc34a3	A	G	2: 25,119,221 (GRCm39)	S550P	probably damaging	Het
Slc4a1ap	A	G	5: 31,684,985 (GRCm39)	H207R	probably damaging	Het
Sphkap	T	A	1: 83,253,479 (GRCm39)	K1423N	possibly damaging	Het
Ttn	A	G	2: 76,712,097 (GRCm39)		probably benign	Het
Vps13d	G	A	4: 144,830,234 (GRCm39)		probably benign	Het
Wwp1	A	T	4: 19,641,816 (GRCm39)	V413D	probably damaging	Het
Zfp267	G	T	3: 36,219,004 (GRCm39)	L341F	possibly 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
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
R6477:Ubqln5	UTSW	7	103,777,465 (GRCm39)	missense	probably damaging	0.97
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'- GCCTACCAGAGTTCCTGTAC -3'
(R):5'- TCAGTGCCACATCAAAGCTTC -3'

Sequencing Primer
(F):5'- GTACAGGCTGACCCTTTCAAATGAG -3'
(R):5'- CATCAAAGCTTCTGCAGGTG -3'

Posted On

2018-06-22