Mutagenetix > Incidental Mutation

Incidental Mutation 'R3688:Ubqln4'

269606

Institutional Source

Beutler Lab

Gene Symbol

Ubqln4

Ensembl Gene

ENSMUSG00000008604

Gene Name

ubiquilin 4

Synonyms

UBIN

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.624) question?

Stock #

R3688 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88461065-88477032 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88470466 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 313 (S313P)

Ref Sequence

ENSEMBL: ENSMUSP00000008748 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008748]

AlphaFold

Q99NB8

PDB Structure

NMR structure of CIP75 UBA domain [SOLUTION NMR]

Predicted Effect

probably damaging
Transcript: ENSMUST00000008748
AA Change: S313P

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000008748
Gene: ENSMUSG00000008604
AA Change: S313P

Domain	Start	End	E-Value	Type
UBQ	13	83	9.08e-17	SMART
low complexity region	93	119	N/A	INTRINSIC
low complexity region	130	149	N/A	INTRINSIC
low complexity region	152	170	N/A	INTRINSIC
low complexity region	176	185	N/A	INTRINSIC
STI1	187	224	2.76e-6	SMART
STI1	225	256	2.39e-1	SMART
low complexity region	302	313	N/A	INTRINSIC
low complexity region	323	335	N/A	INTRINSIC
low complexity region	339	351	N/A	INTRINSIC
STI1	388	435	7.4e-7	SMART
STI1	439	471	3.21e1	SMART
low complexity region	528	539	N/A	INTRINSIC
UBA	554	592	8.25e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192687

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194303

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195498

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,415,968 (GRCm39)	I687T	possibly damaging	Het
A1cf	T	A	19: 31,888,569 (GRCm39)	F100I	probably damaging	Het
Adam12	A	T	7: 133,566,525 (GRCm39)	Y308*	probably null	Het
Adam3	T	C	8: 25,193,864 (GRCm39)	T383A	probably benign	Het
Adcy8	T	C	15: 64,743,556 (GRCm39)	T351A	probably damaging	Het
Atp11c	T	C	X: 59,327,004 (GRCm39)	Y431C	probably benign	Het
Atp7b	T	C	8: 22,494,246 (GRCm39)	H956R	probably damaging	Het
Bptf	C	A	11: 106,965,024 (GRCm39)	R1275L	probably benign	Het
Cept1	G	T	3: 106,427,331 (GRCm39)	N236K	probably benign	Het
Col15a1	C	T	4: 47,258,689 (GRCm39)	T360I	probably benign	Het
Efcab6	G	A	15: 83,755,479 (GRCm39)	Q1323*	probably null	Het
Efl1	T	A	7: 82,412,178 (GRCm39)	S856T	probably benign	Het
Eftud2	T	C	11: 102,735,027 (GRCm39)	E624G	probably damaging	Het
Fat2	T	C	11: 55,171,927 (GRCm39)	T2929A	probably damaging	Het
Gm4884	A	G	7: 40,692,910 (GRCm39)	H293R	possibly damaging	Het
Hdac10	C	T	15: 89,007,767 (GRCm39)		probably null	Het
Il17rd	C	A	14: 26,761,105 (GRCm39)	N15K	probably null	Het
Kcnt1	C	T	2: 25,784,371 (GRCm39)	T258I	probably damaging	Het
Kif5a	T	G	10: 127,078,643 (GRCm39)	N334T	probably damaging	Het
Ksr2	A	G	5: 117,693,044 (GRCm39)	Q164R	probably damaging	Het
Map4k4	T	A	1: 40,024,331 (GRCm39)		probably null	Het
Naa80	T	C	9: 107,460,549 (GRCm39)	V148A	possibly damaging	Het
Or9a2	G	T	6: 41,749,160 (GRCm39)	Y24*	probably null	Het
Pard3b	A	G	1: 62,518,728 (GRCm39)	T938A	probably benign	Het
Pcdhga6	T	A	18: 37,841,594 (GRCm39)	I438N	probably damaging	Het
Pfkm	T	A	15: 98,029,398 (GRCm39)	N697K	probably benign	Het
Prr23a4	A	T	9: 98,785,517 (GRCm39)	M61L	probably benign	Het
Pus10	T	C	11: 23,617,334 (GRCm39)	F16L	probably benign	Het
Rab36	G	A	10: 74,880,328 (GRCm39)	V63I	probably damaging	Het
Rangap1	A	T	15: 81,602,963 (GRCm39)	M154K	possibly damaging	Het
Slc25a17	A	G	15: 81,211,485 (GRCm39)	F177S	probably benign	Het
Slc34a2	G	A	5: 53,222,174 (GRCm39)	G289S	probably benign	Het
Strn4	A	G	7: 16,556,506 (GRCm39)	Y123C	probably damaging	Het
Swt1	A	T	1: 151,267,240 (GRCm39)	M647K	probably damaging	Het
Trpm5	A	G	7: 142,632,193 (GRCm39)	V872A	probably damaging	Het
Vmn1r17	T	A	6: 57,337,544 (GRCm39)	T225S	probably damaging	Het
Vmn2r75	T	A	7: 85,797,629 (GRCm39)	H728L	probably damaging	Het
Vps33a	T	C	5: 123,673,274 (GRCm39)		probably null	Het
Vwde	T	A	6: 13,186,891 (GRCm39)	R865S	probably damaging	Het
Zfp408	T	A	2: 91,476,777 (GRCm39)	M126L	probably benign	Het

Other mutations in Ubqln4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00941:Ubqln4	APN	3	88,471,808 (GRCm39)	missense	probably benign	0.24
IGL01352:Ubqln4	APN	3	88,471,775 (GRCm39)	missense	probably benign	0.32
IGL02821:Ubqln4	APN	3	88,470,458 (GRCm39)	missense	probably benign
IGL02852:Ubqln4	APN	3	88,462,778 (GRCm39)	missense	probably damaging	0.97
R0173:Ubqln4	UTSW	3	88,462,686 (GRCm39)	missense	probably benign	0.00
R0372:Ubqln4	UTSW	3	88,463,276 (GRCm39)	missense	probably benign
R1473:Ubqln4	UTSW	3	88,473,152 (GRCm39)	missense	probably benign
R5423:Ubqln4	UTSW	3	88,470,506 (GRCm39)	missense	probably damaging	0.99
R5592:Ubqln4	UTSW	3	88,464,171 (GRCm39)	missense	probably damaging	0.98
R5688:Ubqln4	UTSW	3	88,472,575 (GRCm39)	missense	probably damaging	1.00
R6809:Ubqln4	UTSW	3	88,462,679 (GRCm39)	missense	possibly damaging	0.94
R7326:Ubqln4	UTSW	3	88,463,217 (GRCm39)	missense	probably benign
R7572:Ubqln4	UTSW	3	88,462,731 (GRCm39)	unclassified	probably benign
R8134:Ubqln4	UTSW	3	88,462,797 (GRCm39)	critical splice donor site	probably null
R8754:Ubqln4	UTSW	3	88,473,090 (GRCm39)	missense	probably benign	0.00
R8939:Ubqln4	UTSW	3	88,473,023 (GRCm39)	missense	probably benign
R9447:Ubqln4	UTSW	3	88,464,124 (GRCm39)	missense	probably benign	0.17
R9762:Ubqln4	UTSW	3	88,473,185 (GRCm39)	critical splice donor site	probably null
Z1177:Ubqln4	UTSW	3	88,473,027 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATGATGTTTGATGCCCTGTCTC -3'
(R):5'- ATTCAGTCCTGGGGCAGAAGAG -3'

Sequencing Primer
(F):5'- TCTCCTTTCCCTGGGGAGG -3'
(R):5'- TGGTGTGACCCCACTAAGCTC -3'

Posted On

2015-02-19