Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01352:Ubqln4'

75380

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ubqln4

Ensembl Gene

ENSMUSG00000008604

Gene Name

ubiquilin 4

Synonyms

UBIN

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.624) question?

Stock #

IGL01352

Quality Score

Status

Chromosome

Chromosomal Location

88461065-88477032 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 88471775 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 404 (M404L)

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 benign
Transcript: ENSMUST00000008748
AA Change: M404L

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000008748
Gene: ENSMUSG00000008604
AA Change: M404L

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	T	C	6: 92,837,155 (GRCm39)	I1169V	probably benign	Het
B3gnt5	T	C	16: 19,587,963 (GRCm39)	S61P	probably damaging	Het
Bambi	G	A	18: 3,512,071 (GRCm39)	A152T	probably damaging	Het
Cacna1c	G	A	6: 118,633,518 (GRCm39)	Q930*	probably null	Het
Ccdc178	A	G	18: 22,152,031 (GRCm39)		probably benign	Het
Chit1	C	T	1: 134,076,228 (GRCm39)	T295M	probably damaging	Het
Cntnap5c	C	A	17: 58,600,896 (GRCm39)	N746K	probably benign	Het
Cyfip2	A	T	11: 46,156,823 (GRCm39)	F422I	probably benign	Het
Dsg3	A	G	18: 20,656,753 (GRCm39)	M208V	probably benign	Het
Erich6	G	A	3: 58,529,781 (GRCm39)		probably null	Het
Gbf1	A	G	19: 46,253,654 (GRCm39)	H574R	probably damaging	Het
Gm17654	T	G	14: 43,813,331 (GRCm39)	E186D	probably damaging	Het
Gm8165	T	C	14: 43,913,573 (GRCm39)	N97S	unknown	Het
Ilf3	C	T	9: 21,303,618 (GRCm39)	L160F	possibly damaging	Het
Krt84	T	A	15: 101,437,209 (GRCm39)	Q318L	probably damaging	Het
Lrp2	T	A	2: 69,333,870 (GRCm39)	H1457L	possibly damaging	Het
Lrrc37a	T	A	11: 103,390,181 (GRCm39)	D1748V	probably benign	Het
Mybl1	T	C	1: 9,741,904 (GRCm39)	E676G	probably damaging	Het
Myo10	C	A	15: 25,701,783 (GRCm39)	R53S	probably damaging	Het
Myorg	T	A	4: 41,499,469 (GRCm39)	R54*	probably null	Het
Nrap	A	G	19: 56,368,268 (GRCm39)	S205P	probably benign	Het
Or4c52	A	G	2: 89,846,063 (GRCm39)	D263G	probably damaging	Het
Or52z1	A	T	7: 103,437,285 (GRCm39)	Y66*	probably null	Het
Or8b1b	A	G	9: 38,376,030 (GRCm39)	N231S	probably benign	Het
Pkhd1	T	A	1: 20,619,939 (GRCm39)	M894L	probably benign	Het
Ptpn13	G	A	5: 103,634,641 (GRCm39)		probably null	Het
Pycard	T	C	7: 127,592,674 (GRCm39)	D9G	probably damaging	Het
Rbfox3	G	A	11: 118,396,439 (GRCm39)		probably benign	Het
Rnf122	C	T	8: 31,614,908 (GRCm39)	R71*	probably null	Het
Scel	T	A	14: 103,770,774 (GRCm39)	D69E	possibly damaging	Het
Spag6	T	G	2: 18,715,284 (GRCm39)	M21R	possibly damaging	Het
Stat5a	A	G	11: 100,771,898 (GRCm39)	D650G	probably damaging	Het
Tars3	T	C	7: 65,308,658 (GRCm39)	I276T	possibly damaging	Het
Tnfaip2	G	T	12: 111,412,053 (GRCm39)	E151D	probably damaging	Het
Trio	G	A	15: 27,901,315 (GRCm39)	T313I	probably benign	Het
Vps33b	T	A	7: 79,934,807 (GRCm39)		probably null	Het
Wdfy3	A	T	5: 102,091,986 (GRCm39)	V451D	probably damaging	Het
Zfp341	G	T	2: 154,470,816 (GRCm39)	A278S	probably benign	Het
Zp3r	C	T	1: 130,547,093 (GRCm39)	A28T	possibly damaging	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
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
R3688:Ubqln4	UTSW	3	88,470,466 (GRCm39)	missense	probably damaging	0.97
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

Posted On

2013-10-07