Mutagenetix > Incidental Mutation

Incidental Mutation 'R9633:Ubxn7'

725679

Institutional Source

Beutler Lab

Gene Symbol

Ubxn7

Ensembl Gene

ENSMUSG00000053774

Gene Name

UBX domain protein 7

Synonyms

Ubxd7

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9633 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

32151075-32212565 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32200248 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 335 (S335P)

Ref Sequence

ENSEMBL: ENSMUSP00000110804 (fasta)

Gene Model

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

AlphaFold

Q6P5G6

Predicted Effect

probably benign
Transcript: ENSMUST00000115151
AA Change: S335P

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000110804
Gene: ENSMUSG00000053774
AA Change: S335P

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: S313P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	A	G	4: 106,613,178 (GRCm39)	V319A	probably damaging	Het
Afap1l1	A	C	18: 61,890,795 (GRCm39)	S53A	possibly damaging	Het
Alms1	T	A	6: 85,600,125 (GRCm39)	N1650K	probably damaging	Het
Atf6b	T	A	17: 34,872,507 (GRCm39)	V553E	possibly damaging	Het
Avl9	T	A	6: 56,707,634 (GRCm39)	I193N	probably damaging	Het
Ceacam3	A	G	7: 16,895,688 (GRCm39)	N553D		Het
Dnah3	C	A	7: 119,550,216 (GRCm39)	V389L	probably benign	Het
Erich6	T	C	3: 58,537,277 (GRCm39)	M246V	probably benign	Het
F830016B08Rik	A	T	18: 60,432,965 (GRCm39)	D16V	probably damaging	Het
Fgfr1	T	A	8: 26,060,776 (GRCm39)	Y483N	probably damaging	Het
Fmo4	T	A	1: 162,631,191 (GRCm39)	M259L	probably benign	Het
Gnat2	T	A	3: 108,002,770 (GRCm39)	D59E	probably benign	Het
Izumo3	T	A	4: 92,034,795 (GRCm39)	Y94F	probably damaging	Het
Kcnb2	A	T	1: 15,781,444 (GRCm39)	H772L	probably benign	Het
Kcnrg	CACAACAA	CACAA	14: 61,845,009 (GRCm39)		probably benign	Het
Krt6b	C	T	15: 101,586,996 (GRCm39)	V259M	probably benign	Het
Lingo2	A	G	4: 35,709,885 (GRCm39)	C32R		Het
Lrrtm4	C	T	6: 80,000,064 (GRCm39)	T492M	probably damaging	Het
Maea	T	A	5: 33,526,050 (GRCm39)	M242K	possibly damaging	Het
Mdga2	T	C	12: 66,736,206 (GRCm39)	T341A	probably benign	Het
Mfsd14b	C	A	13: 65,221,414 (GRCm39)	V293L	probably benign	Het
Mmadhc	A	T	2: 50,178,988 (GRCm39)	S143R	probably benign	Het
Ms4a8a	A	G	19: 11,056,956 (GRCm39)	V42A	probably benign	Het
N4bp2l2	A	T	5: 150,585,103 (GRCm39)	H292Q	probably benign	Het
Nkx2-2	A	G	2: 147,027,686 (GRCm39)	Y85H	possibly damaging	Het
Pramel14	T	C	4: 143,720,818 (GRCm39)	K41R	possibly damaging	Het
Psmb9	T	A	17: 34,402,119 (GRCm39)	D159V	probably damaging	Het
Rgs4	T	A	1: 169,572,843 (GRCm39)	D31V	possibly damaging	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Slc22a14	A	G	9: 119,008,528 (GRCm39)	S247P	probably benign	Het
Slc26a7	G	A	4: 14,524,540 (GRCm39)	T448I	possibly damaging	Het
Slc7a14	T	A	3: 31,278,166 (GRCm39)	T480S	probably benign	Het
Spocd1	T	C	4: 129,850,463 (GRCm39)	S830P	unknown	Het
Sycp2	A	G	2: 177,998,254 (GRCm39)	S1089P	probably damaging	Het
Tcf4	A	T	18: 69,726,382 (GRCm39)		probably benign	Het
Tktl2	T	C	8: 66,965,813 (GRCm39)	V457A	probably benign	Het
Tmem131	A	T	1: 36,847,069 (GRCm39)	I1343N	probably damaging	Het
Tnrc6c	G	A	11: 117,638,009 (GRCm39)	A1164T	probably damaging	Het
Tomm5	G	A	4: 45,107,982 (GRCm39)	R18W	probably damaging	Het
Unc5c	A	C	3: 141,495,654 (GRCm39)	T508P	probably damaging	Het
Upp1	G	A	11: 9,084,909 (GRCm39)	M209I		Het
Vmn1r213	A	G	13: 23,195,519 (GRCm39)	D34G	unknown	Het
Vmn1r235	G	T	17: 21,482,330 (GRCm39)	W218C	possibly damaging	Het
Vmn1r235	G	T	17: 21,482,329 (GRCm39)	W218L	probably benign	Het
Vmn2r57	T	C	7: 41,076,006 (GRCm39)	E502G	probably benign	Het
Wwc2	GCC	GCCC	8: 48,304,959 (GRCm39)		probably null	Het
Zfc3h1	T	A	10: 115,247,852 (GRCm39)	H1018Q	probably damaging	Het
Zfp318	T	A	17: 46,710,421 (GRCm39)	S715T	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
R0583:Ubxn7	UTSW	16	32,194,732 (GRCm39)	missense	probably damaging	1.00
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
R9778:Ubxn7	UTSW	16	32,200,471 (GRCm39)	missense	probably benign	0.20

Predicted Primers

PCR Primer
(F):5'- TTGGCTGCACCTTACAGGAG -3'
(R):5'- TTCGAGTTTAGTAGGTAAAGCAGG -3'

Sequencing Primer
(F):5'- CCTTACAGGAGAGCCTCATAGATG -3'
(R):5'- GACTTTTCAGGTGACATCTCCAAGAC -3'

Posted On

2022-09-12