Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02852:Ubqln4'

361920

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 #

IGL02852

Quality Score

Status

Chromosome

Chromosomal Location

88461065-88477032 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88462778 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 81 (V81A)

Ref Sequence

ENSEMBL: ENSMUSP00000008748 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008748] [ENSMUST00000029698] [ENSMUST00000119002] [ENSMUST00000192962]

AlphaFold

Q99NB8

PDB Structure

NMR structure of CIP75 UBA domain [SOLUTION NMR]

Predicted Effect

probably damaging
Transcript: ENSMUST00000008748
AA Change: V81A

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000008748
Gene: ENSMUSG00000008604
AA Change: V81A

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

probably benign
Transcript: ENSMUST00000029698

SMART Domains

Protein: ENSMUSP00000029698
Gene: ENSMUSG00000028062

Domain	Start	End	E-Value	Type
Robl_LC7	7	95	2.65e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119002

SMART Domains

Protein: ENSMUSP00000112936
Gene: ENSMUSG00000028062

Domain	Start	End	E-Value	Type
Blast:Robl_LC7	1	22	2e-8	BLAST
PDB:3CPT\|B	1	52	2e-32	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145172

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145548

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156421

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192687

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194303

Predicted Effect

probably benign
Transcript: ENSMUST00000192962

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bcar1	A	T	8: 112,441,979 (GRCm39)	L287*	probably null	Het
Birc2	A	G	9: 7,854,484 (GRCm39)	I402T	probably damaging	Het
Btrc	T	A	19: 45,501,095 (GRCm39)	L153*	probably null	Het
C2cd3	T	C	7: 100,079,396 (GRCm39)	F1245L	probably damaging	Het
Cabp7	C	T	11: 4,688,912 (GRCm39)	R186H	probably damaging	Het
Cdk5r2	T	C	1: 74,895,298 (GRCm39)	S348P	probably benign	Het
Cfhr4	T	C	1: 139,701,754 (GRCm39)	Y120C	probably damaging	Het
Clca3a2	T	C	3: 144,512,104 (GRCm39)	D544G	probably damaging	Het
Col6a6	A	C	9: 105,661,272 (GRCm39)	I279S	probably damaging	Het
Csmd1	T	A	8: 15,945,728 (GRCm39)	T3562S	probably damaging	Het
Dgkd	T	C	1: 87,863,135 (GRCm39)	S61P	probably damaging	Het
Dph5	T	A	3: 115,722,320 (GRCm39)	M266K	possibly damaging	Het
Gm14226	G	A	2: 154,866,841 (GRCm39)	S266N	possibly damaging	Het
Gm28047	A	G	15: 102,446,653 (GRCm39)	V400A	possibly damaging	Het
Gucy1a2	A	G	9: 3,759,691 (GRCm39)	D499G	probably benign	Het
Hoxb7	C	T	11: 96,180,320 (GRCm39)	T173M	possibly damaging	Het
Kcnn3	T	A	3: 89,516,923 (GRCm39)	I444N	probably damaging	Het
Kif1b	A	G	4: 149,375,785 (GRCm39)	I27T	probably damaging	Het
Krtap8-1	A	G	16: 89,284,753 (GRCm39)	Y15H	probably benign	Het
Myo18b	C	T	5: 112,863,377 (GRCm39)	V2154I	probably benign	Het
Pcdhb3	A	G	18: 37,435,150 (GRCm39)	D372G	probably damaging	Het
Pfkp	G	T	13: 6,655,059 (GRCm39)	P340Q	possibly damaging	Het
Plcd3	C	T	11: 102,964,631 (GRCm39)	R580Q	probably damaging	Het
Pou5f2	G	A	13: 78,173,178 (GRCm39)	R40Q	probably benign	Het
Ppara	G	T	15: 85,682,079 (GRCm39)	M258I	probably benign	Het
Proc	A	G	18: 32,258,208 (GRCm39)	S246P	probably damaging	Het
Ptpn21	T	C	12: 98,681,454 (GRCm39)		probably null	Het
Ripor2	T	C	13: 24,879,681 (GRCm39)	F383S	probably damaging	Het
Rnf39	T	C	17: 37,256,094 (GRCm39)		probably benign	Het
Sema6c	C	A	3: 95,077,295 (GRCm39)		probably benign	Het
Slc16a5	A	G	11: 115,360,405 (GRCm39)	E196G	probably benign	Het
Slco1c1	T	A	6: 141,493,550 (GRCm39)	L313*	probably null	Het
Slit2	T	C	5: 48,402,014 (GRCm39)	F789S	probably damaging	Het
Spta1	A	G	1: 174,071,676 (GRCm39)	M2219V	probably benign	Het
Sqle	A	T	15: 59,197,920 (GRCm39)	H380L	probably damaging	Het
Tek	T	C	4: 94,743,561 (GRCm39)	Y859H	probably damaging	Het
Trcg1	A	T	9: 57,148,595 (GRCm39)	T56S	possibly damaging	Het
Ttc23	T	A	7: 67,316,903 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,774,648 (GRCm39)		probably benign	Het
Uba1y	C	T	Y: 828,841 (GRCm39)	R550*	probably null	Het
Ugt2b38	C	T	5: 87,559,600 (GRCm39)	E431K	probably benign	Het
Vmn1r85	T	G	7: 12,819,010 (GRCm39)	I45L	possibly damaging	Het
Vmn2r68	T	G	7: 84,882,595 (GRCm39)	S386R	probably damaging	Het
Washc4	A	G	10: 83,419,173 (GRCm39)	T902A	possibly damaging	Het
Zc3h15	G	A	2: 83,475,015 (GRCm39)	A7T	possibly damaging	Het
Zdhhc19	A	C	16: 32,316,460 (GRCm39)	T72P	probably damaging	Het
Zfp729a	A	T	13: 67,768,070 (GRCm39)	S720T	possibly damaging	Het
Zfp729b	T	C	13: 67,740,942 (GRCm39)	K441R	probably damaging	Het
Zfy2	C	T	Y: 2,106,894 (GRCm39)	G580D	probably benign	Het
Zfy2	T	A	Y: 2,117,188 (GRCm39)	H213L	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
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

2015-12-18