Mutagenetix > Incidental Mutation

Incidental Mutation 'R4413:Ubxn6'

328038

Institutional Source

Beutler Lab

Gene Symbol

Ubxn6

Ensembl Gene

ENSMUSG00000019578

Gene Name

UBX domain protein 6

Synonyms

Ubxd1, Ubxdc2, 1200008L11Rik, 2210415J11Rik

MMRRC Submission

041136-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

R4413 (G1)

Quality Score

178

Status

Validated

Chromosome

Chromosomal Location

56374045-56382028 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 56376303 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 311 (V311E)

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 damaging
Transcript: ENSMUST00000019722
AA Change: V311E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000019722
Gene: ENSMUSG00000019578
AA Change: V311E

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

Meta Mutation Damage Score

0.5844

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

93% (42/45)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprhl1	T	C	8: 13,296,114 (GRCm39)	K144E	probably benign	Het
Bcdin3d	A	G	15: 99,368,614 (GRCm39)	L195P	probably damaging	Het
Bltp1	A	G	3: 37,012,830 (GRCm39)		probably null	Het
Col11a1	T	A	3: 113,901,965 (GRCm39)	S553R	unknown	Het
Cp	A	T	3: 20,020,517 (GRCm39)	D170V	probably damaging	Het
Dnah17	C	T	11: 117,915,994 (GRCm39)	A4303T	probably benign	Het
Dpp4	G	A	2: 62,217,484 (GRCm39)	R38C	possibly damaging	Het
Dusp6	C	T	10: 99,099,786 (GRCm39)	T78M	probably damaging	Het
Exoc1	A	G	5: 76,689,866 (GRCm39)		probably benign	Het
Fbxl13	A	T	5: 21,787,051 (GRCm39)	C295*	probably null	Het
Gpsm1	G	A	2: 26,209,843 (GRCm39)		probably benign	Het
Gstm4	T	A	3: 107,950,644 (GRCm39)	D85V	possibly damaging	Het
Hectd4	A	G	5: 121,488,544 (GRCm39)	N3612D	possibly damaging	Het
Izumo3	T	C	4: 92,035,136 (GRCm39)	D27G	probably damaging	Het
Kcna4	T	A	2: 107,125,718 (GRCm39)	C151S	probably benign	Het
Lrrc10	A	G	10: 116,881,719 (GRCm39)	N131S	probably damaging	Het
Madd	A	G	2: 90,997,932 (GRCm39)	S699P	probably damaging	Het
Mcpt4	A	T	14: 56,297,993 (GRCm39)	V186D	probably damaging	Het
Mrgprx3-ps	T	C	7: 46,959,746 (GRCm39)		noncoding transcript	Het
Mrm1	G	T	11: 84,710,054 (GRCm39)	R49S	possibly damaging	Het
Nav2	T	A	7: 49,047,857 (GRCm39)	N91K	probably benign	Het
Noct	C	T	3: 51,157,756 (GRCm39)	R365W	probably damaging	Het
Ntn1	C	T	11: 68,276,736 (GRCm39)	G71S	probably damaging	Het
Or10x1	T	C	1: 174,197,040 (GRCm39)	S186P	probably damaging	Het
Plekhg3	A	C	12: 76,624,538 (GRCm39)	T1127P	probably damaging	Het
Rhbdl2	A	T	4: 123,703,880 (GRCm39)	M52L	probably benign	Het
Saxo5	T	A	8: 3,533,529 (GRCm39)	H278Q	probably damaging	Het
Slc10a1	T	C	12: 81,004,906 (GRCm39)	N212S	probably benign	Het
Sohlh2	C	A	3: 55,104,423 (GRCm39)	T264K	probably damaging	Het
Srrm2	A	G	17: 24,029,442 (GRCm39)		probably benign	Het
Syn3	C	A	10: 85,891,456 (GRCm39)		probably benign	Het
Taf5	T	A	19: 47,059,453 (GRCm39)	V199D	probably damaging	Het
Tas2r136	C	A	6: 132,754,972 (GRCm39)	V52L	probably damaging	Het
Tnk2	C	T	16: 32,488,319 (GRCm39)	R191C	probably damaging	Het
Ttn	A	G	2: 76,556,120 (GRCm39)	I21968T	probably damaging	Het
Usp7	C	A	16: 8,526,778 (GRCm39)	D187Y	probably damaging	Het
Vmn1r115	C	T	7: 20,578,207 (GRCm39)	R235K	probably benign	Het
Vmn2r50	A	C	7: 9,784,235 (GRCm39)	F80V	probably damaging	Het
Vmn2r58	T	A	7: 41,511,360 (GRCm39)	K481M	possibly damaging	Het
Vmn2r86	A	G	10: 130,288,469 (GRCm39)	I344T	possibly damaging	Het
Vmn2r99	T	A	17: 19,599,522 (GRCm39)	V402E	probably damaging	Het
Zfp462	A	G	4: 55,012,672 (GRCm39)	D1546G	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
R5609:Ubxn6	UTSW	17	56,376,745 (GRCm39)	missense	probably benign	0.40
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'- AGAGGTGGTGCAGTATGATTACC -3'
(R):5'- CAGGAGGAGTTCTACGTTCTG -3'

Sequencing Primer
(F):5'- TGGTGCAGTATGATTACCACCCAC -3'
(R):5'- AGCTGTTGGATGCCGAGC -3'

Posted On

2015-07-07