Mutagenetix > Incidental Mutation

Incidental Mutation 'R5609:Ubxn6'

437994

Institutional Source

Beutler Lab

Gene Symbol

Ubxn6

Ensembl Gene

ENSMUSG00000019578

Gene Name

UBX domain protein 6

Synonyms

Ubxd1, Ubxdc2, 1200008L11Rik, 2210415J11Rik

MMRRC Submission

043158-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R5609 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

56374045-56382028 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 56376745 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 216 (E216K)

Ref Sequence

ENSEMBL: ENSMUSP00000019722 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002914] [ENSMUST00000019722] [ENSMUST00000139371]

AlphaFold

Q99PL6

Predicted Effect

probably benign
Transcript: ENSMUST00000002914

SMART Domains

Protein: ENSMUSP00000002914
Gene: ENSMUSG00000002835

Domain	Start	End	E-Value	Type
Pfam:CAF1-p150_N	1	210	3.8e-59	PFAM
low complexity region	263	286	N/A	INTRINSIC
Pfam:CAF-1_p150	299	458	1e-49	PFAM
low complexity region	466	481	N/A	INTRINSIC
Pfam:CAF1A	537	611	1.1e-25	PFAM
Pfam:CAF1-p150_C2	644	908	1.6e-121	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000019722
AA Change: E216K

PolyPhen 2 Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000019722
Gene: ENSMUSG00000019578
AA Change: E216K

Domain	Start	End	E-Value	Type
low complexity region	52	61	N/A	INTRINSIC
Pfam:PUB	168	255	1.6e-27	PFAM
UBX	329	410	1.03e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132804

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134441

Predicted Effect

probably benign
Transcript: ENSMUST00000139371

SMART Domains

Protein: ENSMUSP00000120423
Gene: ENSMUSG00000019578

Domain	Start	End	E-Value	Type
low complexity region	2	8	N/A	INTRINSIC
Pfam:PUB	113	154	6.8e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146467

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151943

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153947

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,353,874 (GRCm39)	I3732T	probably benign	Het
Ago1	C	A	4: 126,354,830 (GRCm39)	K127N	possibly damaging	Het
Akap8l	T	C	17: 32,557,374 (GRCm39)	N79S	probably damaging	Het
Ano5	T	C	7: 51,243,385 (GRCm39)	L836P	probably damaging	Het
AY358078	A	G	14: 52,042,065 (GRCm39)	T147A	unknown	Het
Cabp4	T	C	19: 4,189,251 (GRCm39)	D102G	probably benign	Het
Cdc34	C	T	10: 79,520,655 (GRCm39)	R61C	probably damaging	Het
Chac1	A	G	2: 119,181,887 (GRCm39)	K2E	unknown	Het
Cltc	C	T	11: 86,621,093 (GRCm39)	V305I	probably damaging	Het
Cog7	T	C	7: 121,524,683 (GRCm39)	T704A	probably benign	Het
Cux1	A	G	5: 136,421,174 (GRCm39)	V184A	probably damaging	Het
Daglb	A	T	5: 143,464,274 (GRCm39)	T262S	probably benign	Het
Dglucy	A	G	12: 100,753,905 (GRCm39)	I12V	probably null	Het
Dnah7a	A	G	1: 53,621,753 (GRCm39)	V1124A	probably benign	Het
Eef2	C	CN	10: 81,014,603 (GRCm39)		probably null	Het
Eif3k	C	A	7: 28,681,133 (GRCm39)	A9S	probably benign	Het
Elapor1	T	A	3: 108,378,731 (GRCm39)	I408F	probably damaging	Het
Gli3	A	T	13: 15,723,038 (GRCm39)	M60L	possibly damaging	Het
Hk1	C	T	10: 62,178,330 (GRCm39)	E4K	probably benign	Het
Kmt2b	C	A	7: 30,276,570 (GRCm39)	V1701L	probably damaging	Het
Lrp1b	T	C	2: 41,231,807 (GRCm39)	H1107R	probably damaging	Het
Lypd10	A	T	7: 24,413,711 (GRCm39)	R242S	possibly damaging	Het
Ncor1	A	G	11: 62,249,679 (GRCm39)		probably null	Het
Or5h23	T	A	16: 58,906,439 (GRCm39)	M136L	possibly damaging	Het
Or6c70	T	G	10: 129,710,607 (GRCm39)	R6S	probably benign	Het
Plekhg4	G	A	8: 106,106,134 (GRCm39)		probably null	Het
Pmfbp1	G	T	8: 110,251,739 (GRCm39)	E327D	probably damaging	Het
Slc22a17	G	A	14: 55,146,427 (GRCm39)	P63L	probably damaging	Het
Slc37a1	G	A	17: 31,556,982 (GRCm39)	V383M	possibly damaging	Het
Slc9a9	T	A	9: 94,691,990 (GRCm39)	Y182N	probably damaging	Het
Slx4ip	A	G	2: 136,842,162 (GRCm39)	D29G	probably damaging	Het
St3gal5	T	C	6: 72,130,446 (GRCm39)	V319A	possibly damaging	Het
Tbc1d10c	C	T	19: 4,239,881 (GRCm39)	M76I	possibly damaging	Het
Thrb	C	A	14: 18,033,526 (GRCm38)	H416N	probably benign	Het
Timp2	T	A	11: 118,210,987 (GRCm39)	D60V	probably damaging	Het
Unc79	T	C	12: 103,094,527 (GRCm39)	M1977T	probably benign	Het
Uri1	G	A	7: 37,662,954 (GRCm39)	R347*	probably null	Het
Vmn1r73	G	A	7: 11,490,591 (GRCm39)	W136*	probably null	Het
Vmn2r124	T	C	17: 18,294,102 (GRCm39)	Y730H	probably benign	Het
Wnk4	C	T	11: 101,166,462 (GRCm39)		probably benign	Het
Zfhx4	A	G	3: 5,468,679 (GRCm39)	N2971D	probably damaging	Het

Other mutations in Ubxn6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1445:Ubxn6	UTSW	17	56,376,042 (GRCm39)	missense	probably benign	0.13
R1514:Ubxn6	UTSW	17	56,376,003 (GRCm39)	missense	probably benign	0.01
R1970:Ubxn6	UTSW	17	56,380,077 (GRCm39)	missense	possibly damaging	0.73
R3442:Ubxn6	UTSW	17	56,376,049 (GRCm39)	missense	probably benign	0.34
R4097:Ubxn6	UTSW	17	56,376,712 (GRCm39)	missense	probably benign	0.18
R4411:Ubxn6	UTSW	17	56,376,303 (GRCm39)	missense	probably damaging	1.00
R4413:Ubxn6	UTSW	17	56,376,303 (GRCm39)	missense	probably damaging	1.00
R6747:Ubxn6	UTSW	17	56,377,650 (GRCm39)	critical splice donor site	probably null
R8072:Ubxn6	UTSW	17	56,380,195 (GRCm39)	missense	probably benign	0.01
R9635:Ubxn6	UTSW	17	56,376,189 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAAAATGTGAGGCCAGAGC -3'
(R):5'- ACCACAAAGCCATTATGGGG -3'

Sequencing Primer
(F):5'- TCGGCATCCAACAGCTG -3'
(R):5'- CATTATGGGGGACGTCATTCCAAG -3'

Posted On

2016-10-26