Mutagenetix > Incidental Mutation

Incidental Mutation 'R4097:Ubxn6'

317188

Institutional Source

Beutler Lab

Gene Symbol

Ubxn6

Ensembl Gene

ENSMUSG00000019578

Gene Name

UBX domain protein 6

Synonyms

Ubxd1, Ubxdc2, 1200008L11Rik, 2210415J11Rik

MMRRC Submission

040984-MU

Accession Numbers

Essential gene?

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

Stock #

R4097 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56374045-56382028 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56376712 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 227 (T227A)

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: T227A

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000019722
Gene: ENSMUSG00000019578
AA Change: T227A

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 96.1%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1l2	A	G	10: 83,348,228 (GRCm39)	F292L	probably damaging	Het
Ankrd36	A	G	11: 5,578,703 (GRCm39)	D664G	possibly damaging	Het
Bbs1	T	A	19: 4,947,345 (GRCm39)	Y358F	probably damaging	Het
Becn1	C	T	11: 101,185,092 (GRCm39)		probably benign	Het
Cenpp	A	T	13: 49,647,265 (GRCm39)	N47I	possibly damaging	Het
Clec4n	A	T	6: 123,207,700 (GRCm39)	H55L	possibly damaging	Het
Cntnap4	A	G	8: 113,478,939 (GRCm39)	I222V	probably benign	Het
Cttnbp2	T	C	6: 18,420,871 (GRCm39)	E370G	probably benign	Het
Cyp4a10	T	A	4: 115,386,480 (GRCm39)	V413E	probably damaging	Het
Dctn2	C	T	10: 127,113,362 (GRCm39)	L249F	probably damaging	Het
Dnah9	T	C	11: 65,881,285 (GRCm39)	S146G	probably damaging	Het
Dzip3	A	T	16: 48,778,852 (GRCm39)	L315*	probably null	Het
Evpl	T	C	11: 116,114,003 (GRCm39)	E1229G	possibly damaging	Het
Ice2	T	C	9: 69,328,953 (GRCm39)	V775A	possibly damaging	Het
Jmjd1c	A	G	10: 67,054,787 (GRCm39)	E69G	probably benign	Het
Lrrc66	T	A	5: 73,765,047 (GRCm39)	R665S	possibly damaging	Het
Mpdz	T	A	4: 81,253,937 (GRCm39)	H1065L	probably damaging	Het
Nrf1	C	T	6: 30,151,671 (GRCm39)	Q503*	probably null	Het
Nt5dc3	G	A	10: 86,669,820 (GRCm39)	A472T	probably benign	Het
Oprk1	T	A	1: 5,673,034 (GRCm39)		probably benign	Het
Or7g17	T	C	9: 18,767,933 (GRCm39)	I4T	probably benign	Het
Or9g3	T	C	2: 85,590,040 (GRCm39)	I227V	possibly damaging	Het
Pramel6	T	G	2: 87,339,697 (GRCm39)	F154V	probably benign	Het
Ralb	T	C	1: 119,411,228 (GRCm39)	D37G	probably benign	Het
Ranbp9	A	T	13: 43,574,733 (GRCm39)	Y412N	probably damaging	Het
Scg2	T	A	1: 79,413,538 (GRCm39)	D395V	probably damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Serpine3	T	A	14: 62,908,395 (GRCm39)	L141Q	probably damaging	Het
Sgpl1	C	T	10: 60,939,017 (GRCm39)	G394D	probably damaging	Het
Sh3pxd2a	T	C	19: 47,412,951 (GRCm39)	Y44C	probably damaging	Het
Slc6a20b	A	G	9: 123,441,822 (GRCm39)		probably benign	Het
Snapc5	T	C	9: 64,087,809 (GRCm39)	I40T	probably damaging	Het
Spopl	T	C	2: 23,401,413 (GRCm39)	H365R	probably benign	Het
Stil	T	A	4: 114,880,797 (GRCm39)	I447N	probably benign	Het
Taf3	C	A	2: 9,957,178 (GRCm39)	V330F	possibly damaging	Het
Tgoln1	T	C	6: 72,592,784 (GRCm39)	E232G	probably damaging	Het
Thrap3	A	G	4: 126,065,595 (GRCm39)	L729P	probably damaging	Het
Tmem269	A	T	4: 119,062,977 (GRCm39)	F220Y	probably damaging	Het
Tnrc18	ATCTTCC	A	5: 142,759,561 (GRCm39)		probably benign	Het
Wdr17	C	A	8: 55,088,504 (GRCm39)	R1182I	probably damaging	Het
Wdr26	T	C	1: 181,010,352 (GRCm39)	I550V	probably benign	Het
Wdr43	A	G	17: 71,964,532 (GRCm39)	N637S	probably benign	Het
Zfp516	A	G	18: 83,005,381 (GRCm39)	T762A	possibly 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
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
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'- TTCAAAATGTGAGGCCAGAGC -3'
(R):5'- ACCACTCATCAGCTGTTGGG -3'

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

Posted On

2015-05-15