Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02690:Ubxn7'

303700

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ubxn7

Ensembl Gene

ENSMUSG00000053774

Gene Name

UBX domain protein 7

Synonyms

Ubxd7

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02690

Quality Score

Status

Chromosome

Chromosomal Location

32332257-32393747 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32381605 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 371 (E371G)

Ref Sequence

ENSEMBL: ENSMUSP00000156376 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000115151
AA Change: E393G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000110804
Gene: ENSMUSG00000053774
AA Change: E393G

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 benign
Transcript: ENSMUST00000232137
AA Change: E371G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	T	C	17: 57,480,921	V896A	probably damaging	Het
Ahnak	C	A	19: 9,012,584	S3744*	probably null	Het
Aldh7a1	A	G	18: 56,528,355		probably benign	Het
Ankk1	T	A	9: 49,421,900	I95F	probably damaging	Het
Borcs8	C	A	8: 70,165,088	A32D	probably damaging	Het
Cdh1	T	A	8: 106,657,884	I328N	probably damaging	Het
Cebpz	C	T	17: 78,922,557	D856N	probably damaging	Het
Clip2	T	A	5: 134,510,159		probably benign	Het
Dock7	C	A	4: 98,969,635	V1451F	possibly damaging	Het
Edem3	T	G	1: 151,804,799	C558W	probably damaging	Het
Eif3f	T	C	7: 108,934,718	V96A	probably damaging	Het
Gen1	A	G	12: 11,241,575	S738P	probably damaging	Het
Gm12666	T	A	4: 92,191,011	D191V	probably damaging	Het
Gm8906	C	T	5: 11,505,261	Q66*	probably null	Het
Ipo8	A	T	6: 148,777,363	S912R	probably benign	Het
Kcp	G	T	6: 29,484,999		probably benign	Het
Lrrfip1	A	G	1: 91,053,661	T2A	probably damaging	Het
Lyst	A	G	13: 13,641,125	E1198G	possibly damaging	Het
Maml1	A	G	11: 50,258,630	L761P	probably damaging	Het
Mon2	T	A	10: 123,009,627	E1392V	possibly damaging	Het
Nol12	A	G	15: 78,937,174	E78G	probably damaging	Het
Nov	A	G	15: 54,747,802	Y111C	probably damaging	Het
Olfr156	G	A	4: 43,821,190	T57M	possibly damaging	Het
Olfr181	G	A	16: 58,925,851	T240I	possibly damaging	Het
Papd7	T	A	13: 69,510,625	M364L	probably benign	Het
Rag2	A	T	2: 101,629,494	I50L	probably benign	Het
Rasgrf2	T	C	13: 92,030,765	N267D	probably damaging	Het
Rnf123	G	A	9: 108,068,302	R390*	probably null	Het
Rsc1a1	A	T	4: 141,685,301	V100D	probably damaging	Het
Rtp1	T	C	16: 23,431,382	Y166H	probably damaging	Het
Scly	A	T	1: 91,305,325	T109S	probably benign	Het
Scn8a	A	T	15: 100,970,254	S327C	probably damaging	Het
Sgsm1	T	C	5: 113,286,767		probably benign	Het
Slc4a9	A	G	18: 36,531,987	Y463C	probably damaging	Het
Sptan1	A	G	2: 29,998,183	M936V	possibly damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Tbx20	T	A	9: 24,773,737	N37Y	probably benign	Het
Tex14	C	T	11: 87,486,274	T148I	probably benign	Het
Ugt2b35	T	C	5: 87,001,237	F116L	probably benign	Het
Vmn2r111	C	T	17: 22,559,042		probably null	Het
Vmn2r26	T	C	6: 124,026,132	L167P	probably benign	Het
Vps13b	T	C	15: 35,917,142	W3711R	probably damaging	Het
Wdr5	A	T	2: 27,534,828	T326S	probably benign	Het

Other mutations in Ubxn7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00821:Ubxn7	APN	16	32369398	missense	probably damaging	0.97
IGL02149:Ubxn7	APN	16	32375270	missense	probably damaging	1.00
IGL02183:Ubxn7	APN	16	32369383	missense	probably damaging	1.00
IGL03133:Ubxn7	APN	16	32381781	missense	probably damaging	1.00
R0268:Ubxn7	UTSW	16	32360046	missense	probably benign	0.05
R0583:Ubxn7	UTSW	16	32375914	missense	probably damaging	1.00
R0635:Ubxn7	UTSW	16	32367417	intron	probably benign
R0787:Ubxn7	UTSW	16	32381763	splice site	probably benign
R1658:Ubxn7	UTSW	16	32381236	splice site	probably null
R1916:Ubxn7	UTSW	16	32381759	splice site	probably benign
R2070:Ubxn7	UTSW	16	32372469	missense	possibly damaging	0.47
R2071:Ubxn7	UTSW	16	32372469	missense	possibly damaging	0.47
R3031:Ubxn7	UTSW	16	32375307	missense	probably benign	0.34
R3871:Ubxn7	UTSW	16	32381430	missense	possibly damaging	0.94
R4994:Ubxn7	UTSW	16	32381504	missense	probably damaging	1.00
R5629:Ubxn7	UTSW	16	32332299	missense	unknown
R6334:Ubxn7	UTSW	16	32372189	splice site	probably null
R6599:Ubxn7	UTSW	16	32384925	missense	probably damaging	1.00
R8230:Ubxn7	UTSW	16	32375276	missense	probably benign	0.08

Posted On

2015-04-16