Mutagenetix > Incidental Mutation

Incidental Mutation 'R0583:Ubxn7'

56534

Institutional Source

Beutler Lab

Gene Symbol

Ubxn7

Ensembl Gene

ENSMUSG00000053774

Gene Name

UBX domain protein 7

Synonyms

Ubxd7

MMRRC Submission

038773-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0583 (G1)

Quality Score

114

Status

Not validated

Chromosome

Chromosomal Location

32151075-32212565 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32194732 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 220 (W220R)

Ref Sequence

ENSEMBL: ENSMUSP00000156376 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115151] [ENSMUST00000232137]

AlphaFold

Q6P5G6

Predicted Effect

probably damaging
Transcript: ENSMUST00000115151
AA Change: W242R

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000110804
Gene: ENSMUSG00000053774
AA Change: W242R

Domain	Start	End	E-Value	Type
low complexity region	2	12	N/A	INTRINSIC
Pfam:UBA_4	15	56	4.3e-15	PFAM
UAS	137	260	3.05e-50	SMART
low complexity region	312	328	N/A	INTRINSIC
UBX	405	487	1.16e-15	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000232137
AA Change: W220R

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

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.1%
20x: 93.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	G	9: 57,164,926 (GRCm39)	S483P	probably benign	Het
5730480H06Rik	A	G	5: 48,537,470 (GRCm39)	H169R	probably damaging	Het
Actn1	T	A	12: 80,245,803 (GRCm39)	I127F	probably damaging	Het
Cadm3	T	G	1: 173,168,738 (GRCm39)	T277P	probably benign	Het
Cast	T	C	13: 74,861,797 (GRCm39)	T629A	probably damaging	Het
Cblc	C	A	7: 19,526,486 (GRCm39)	C201F	probably benign	Het
Ccdc154	T	A	17: 25,387,398 (GRCm39)	D375E	possibly damaging	Het
Cdk6	A	G	5: 3,523,183 (GRCm39)	D201G	probably damaging	Het
Cep95	T	C	11: 106,705,449 (GRCm39)	V478A	probably benign	Het
Ciita	T	C	16: 10,341,668 (GRCm39)		probably null	Het
Clec4e	A	G	6: 123,260,653 (GRCm39)	F135S	probably damaging	Het
Cntn6	A	G	6: 104,753,275 (GRCm39)	D337G	possibly damaging	Het
Crlf3	A	T	11: 79,950,107 (GRCm39)	H174Q	probably damaging	Het
Cyb5r1	T	A	1: 134,335,339 (GRCm39)	F93I	probably damaging	Het
Dop1b	T	C	16: 93,552,374 (GRCm39)	I271T	probably benign	Het
Duxf1	G	A	10: 58,059,210 (GRCm39)	L515F	probably damaging	Het
Fcho1	T	C	8: 72,168,369 (GRCm39)	Y218C	probably damaging	Het
Fhad1	C	T	4: 141,631,301 (GRCm39)	M1297I	probably benign	Het
Igdcc4	T	C	9: 65,029,095 (GRCm39)	V244A	possibly damaging	Het
Ikzf5	A	G	7: 130,993,514 (GRCm39)		probably null	Het
Ilvbl	T	A	10: 78,419,101 (GRCm39)	V450E	probably damaging	Het
Kcns3	T	G	12: 11,141,479 (GRCm39)	N407H	probably damaging	Het
Klhl11	T	C	11: 100,355,150 (GRCm39)	K224E	possibly damaging	Het
Klra17	T	A	6: 129,845,656 (GRCm39)	D186V	probably damaging	Het
Lrrc37a	T	C	11: 103,389,263 (GRCm39)	D2054G	probably benign	Het
Mef2a	G	T	7: 66,884,896 (GRCm39)	S406*	probably null	Het
Mrgbp	A	G	2: 180,226,239 (GRCm39)	N104S	probably benign	Het
Mroh2a	GT	GTT	1: 88,183,888 (GRCm39)		probably null	Het
Muc5ac	C	A	7: 141,361,345 (GRCm39)	T1552N	probably damaging	Het
Muc5b	T	A	7: 141,410,435 (GRCm39)	Y1269*	probably null	Het
Myef2	T	C	2: 124,939,901 (GRCm39)		probably null	Het
Myg1	C	T	15: 102,246,225 (GRCm39)	Q367*	probably null	Het
Nalcn	T	C	14: 123,531,755 (GRCm39)	N1365S	possibly damaging	Het
Nfu1	T	C	6: 86,986,934 (GRCm39)	C18R	probably benign	Het
Nkx2-6	A	T	14: 69,412,228 (GRCm39)	Q132L	probably damaging	Het
Or10a3b	C	T	7: 108,444,621 (GRCm39)	A199T	possibly damaging	Het
Or8k38	T	A	2: 86,488,704 (GRCm39)	I33F	probably benign	Het
Pak3	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	X: 142,526,889 (GRCm39)		probably benign	Het
Prh1	A	T	6: 132,548,796 (GRCm39)	Q101L	unknown	Het
Ribc2	A	T	15: 85,017,115 (GRCm39)		probably null	Het
Rnf19a	C	A	15: 36,253,151 (GRCm39)	R396L	probably damaging	Het
Sdad1	A	G	5: 92,452,923 (GRCm39)	I105T	probably damaging	Het
Sec24b	G	T	3: 129,834,960 (GRCm39)	Y79*	probably null	Het
Tatdn2	A	G	6: 113,679,486 (GRCm39)	E277G	possibly damaging	Het
Tex10	A	C	4: 48,451,952 (GRCm39)	F725V	probably damaging	Het
Themis3	T	C	17: 66,866,748 (GRCm39)	D164G	probably benign	Het
Usp33	C	A	3: 152,073,891 (GRCm39)	R246S	probably damaging	Het
Vmn2r102	T	A	17: 19,897,043 (GRCm39)	V130E	probably benign	Het
Vmn2r112	C	T	17: 22,837,930 (GRCm39)	P797L	probably damaging	Het
Vmn2r114	ATTT	ATT	17: 23,509,906 (GRCm39)		probably null	Het
Yme1l1	T	C	2: 23,076,262 (GRCm39)	V340A	probably damaging	Het
Zfta	A	G	19: 7,397,639 (GRCm39)	D62G	probably damaging	Het

Other mutations in Ubxn7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00821:Ubxn7	APN	16	32,188,216 (GRCm39)	missense	probably damaging	0.97
IGL02149:Ubxn7	APN	16	32,194,088 (GRCm39)	missense	probably damaging	1.00
IGL02183:Ubxn7	APN	16	32,188,201 (GRCm39)	missense	probably damaging	1.00
IGL02690:Ubxn7	APN	16	32,200,423 (GRCm39)	missense	probably benign	0.01
IGL03133:Ubxn7	APN	16	32,200,599 (GRCm39)	missense	probably damaging	1.00
R0268:Ubxn7	UTSW	16	32,178,864 (GRCm39)	missense	probably benign	0.05
R0635:Ubxn7	UTSW	16	32,186,235 (GRCm39)	intron	probably benign
R0787:Ubxn7	UTSW	16	32,200,581 (GRCm39)	splice site	probably benign
R1658:Ubxn7	UTSW	16	32,200,054 (GRCm39)	splice site	probably null
R1916:Ubxn7	UTSW	16	32,200,577 (GRCm39)	splice site	probably benign
R2070:Ubxn7	UTSW	16	32,191,287 (GRCm39)	missense	possibly damaging	0.47
R2071:Ubxn7	UTSW	16	32,191,287 (GRCm39)	missense	possibly damaging	0.47
R3031:Ubxn7	UTSW	16	32,194,125 (GRCm39)	missense	probably benign	0.34
R3871:Ubxn7	UTSW	16	32,200,248 (GRCm39)	missense	possibly damaging	0.94
R4994:Ubxn7	UTSW	16	32,200,322 (GRCm39)	missense	probably damaging	1.00
R5629:Ubxn7	UTSW	16	32,151,117 (GRCm39)	missense	unknown
R6334:Ubxn7	UTSW	16	32,191,007 (GRCm39)	splice site	probably null
R6599:Ubxn7	UTSW	16	32,203,743 (GRCm39)	missense	probably damaging	1.00
R8230:Ubxn7	UTSW	16	32,194,094 (GRCm39)	missense	probably benign	0.08
R8714:Ubxn7	UTSW	16	32,186,229 (GRCm39)	critical splice donor site	probably benign
R9234:Ubxn7	UTSW	16	32,178,895 (GRCm39)	critical splice donor site	probably null
R9633:Ubxn7	UTSW	16	32,200,248 (GRCm39)	missense	probably benign	0.08
R9778:Ubxn7	UTSW	16	32,200,471 (GRCm39)	missense	probably benign	0.20

Predicted Primers

PCR Primer
(F):5'- CCACGGACAGGTAAGTTACAGCAAA -3'
(R):5'- agaagccagctCTACTCCTTGTCAT -3'

Sequencing Primer
(F):5'- GAGGGTGAGCTGttttaaattattg -3'
(R):5'- ccagctCTACTCCTTGTCATAAATAC -3'

Posted On

2013-07-11