Mutagenetix > Incidental Mutation

Incidental Mutation 'R5592:Ubqln4'

437563

Institutional Source

Beutler Lab

Gene Symbol

Ubqln4

Ensembl Gene

ENSMUSG00000008604

Gene Name

ubiquilin 4

Synonyms

UBIN

MMRRC Submission

043144-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.679) question?

Stock #

R5592 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88461065-88477032 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 88464171 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 224 (M224R)

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: M224R

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000008748
Gene: ENSMUSG00000008604
AA Change: M224R

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: ENSMUST00000156421

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192687

Predicted Effect

probably benign
Transcript: ENSMUST00000192962

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194303

Meta Mutation Damage Score

0.2188

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 96.7%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630001G21Rik	A	T	1: 85,654,332 (GRCm39)	F2I	probably damaging	Het
Adam17	C	T	12: 21,384,138 (GRCm39)	S454N	probably damaging	Het
Adcy1	A	T	11: 7,089,088 (GRCm39)	K501*	probably null	Het
Arhgap28	A	T	17: 68,165,267 (GRCm39)	M543K	probably damaging	Het
Art3	T	A	5: 92,540,679 (GRCm39)	Y141N	probably damaging	Het
Ccdc38	C	T	10: 93,386,064 (GRCm39)	T60I	possibly damaging	Het
Crmp1	A	C	5: 37,422,609 (GRCm39)	I139L	probably benign	Het
Cul9	G	A	17: 46,831,517 (GRCm39)	L1566F	probably benign	Het
Cysltr2	T	C	14: 73,266,931 (GRCm39)	K260E	probably benign	Het
Drd1	A	T	13: 54,208,190 (GRCm39)	M1K	probably null	Het
Flii	T	G	11: 60,611,225 (GRCm39)	M449L	probably benign	Het
Galnt16	T	C	12: 80,635,293 (GRCm39)	V343A	probably damaging	Het
Gimap4	A	T	6: 48,668,092 (GRCm39)	E154D	probably damaging	Het
Glmp	T	G	3: 88,233,333 (GRCm39)		probably benign	Het
Glt1d1	A	T	5: 127,734,183 (GRCm39)	D119V	probably benign	Het
Gm5930	C	T	14: 44,568,886 (GRCm39)	M245I	probably benign	Het
Golgb1	T	A	16: 36,746,125 (GRCm39)	H2901Q	probably benign	Het
Krt12	C	T	11: 99,311,650 (GRCm39)	V184I	probably benign	Het
Lyst	T	G	13: 13,917,918 (GRCm39)	I3326S	probably damaging	Het
Mier3	T	A	13: 111,843,195 (GRCm39)	Y182*	probably null	Het
Mlip	G	A	9: 77,137,764 (GRCm39)	S381L	probably damaging	Het
Mmp25	A	G	17: 23,859,176 (GRCm39)	V157A	possibly damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Ms4a6c	A	G	19: 11,457,641 (GRCm39)		probably benign	Het
Ms4a6c	A	G	19: 11,458,496 (GRCm39)		probably benign	Het
Muc19	T	C	15: 91,828,199 (GRCm39)		noncoding transcript	Het
Mucl3	T	C	17: 35,954,535 (GRCm39)	Y9C	probably damaging	Het
Mycbp2	C	A	14: 103,432,113 (GRCm39)	M2308I	probably benign	Het
Myo1a	G	T	10: 127,549,908 (GRCm39)	V463F	probably damaging	Het
Ogdh	A	T	11: 6,266,763 (GRCm39)		probably null	Het
Or52h9	A	T	7: 104,202,938 (GRCm39)	N271Y	probably benign	Het
Or5l14	A	G	2: 87,792,684 (GRCm39)	L184P	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Paip1	C	A	13: 119,587,334 (GRCm39)	D124E	probably damaging	Het
Pdcd11	T	A	19: 47,091,164 (GRCm39)	N379K	probably benign	Het
Pitpnm2	T	C	5: 124,280,212 (GRCm39)	E112G	probably damaging	Het
Prrg4	T	C	2: 104,663,123 (GRCm39)	Y161C	probably benign	Het
Rb1	A	G	14: 73,449,187 (GRCm39)	Y648H	probably damaging	Het
Rpa3	A	T	6: 8,257,694 (GRCm39)	M56K	probably benign	Het
Scarf1	A	T	11: 75,416,513 (GRCm39)	T652S	probably benign	Het
Slc16a5	A	G	11: 115,363,608 (GRCm39)	K423R	probably benign	Het
Sptan1	C	T	2: 29,876,731 (GRCm39)		probably benign	Het
Ssrp1	T	C	2: 84,875,863 (GRCm39)	I574T	probably benign	Het
Synm	A	G	7: 67,409,264 (GRCm39)	L38P	probably damaging	Het
Uroc1	A	G	6: 90,332,326 (GRCm39)	N561S	probably damaging	Het
Vav1	A	G	17: 57,611,835 (GRCm39)	Y483C	probably benign	Het
Vps13a	G	A	19: 16,702,935 (GRCm39)	L673F	probably damaging	Het
Zfp418	G	T	7: 7,184,314 (GRCm39)	K92N	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
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
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
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'- GAAAGTCTGCTGGATCTTGGAAG -3'
(R):5'- TCAAGTGTTCAAAGCACACCAG -3'

Sequencing Primer
(F):5'- AGGGAGACTCTGACCCTGCTC -3'
(R):5'- GCTCAACTCAATGAACAAGAAGAAG -3'

Posted On

2016-10-26