Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03012:Unc93a'

407804

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Unc93a

Ensembl Gene

ENSMUSG00000067049

Gene Name

unc-93 homolog A

Synonyms

Unc93l

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

IGL03012

Quality Score

Status

Chromosome

Chromosomal Location

13327504-13350697 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 13328495 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 453 (E453K)

Ref Sequence

ENSEMBL: ENSMUSP00000082032 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084966]

AlphaFold

Q710D3

Predicted Effect

probably benign
Transcript: ENSMUST00000084966
AA Change: E453K

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000082032
Gene: ENSMUSG00000067049
AA Change: E453K

Domain	Start	End	E-Value	Type
Pfam:UNC-93	11	168	4e-16	PFAM
transmembrane domain	199	221	N/A	INTRINSIC
low complexity region	235	241	N/A	INTRINSIC
transmembrane domain	258	275	N/A	INTRINSIC
transmembrane domain	290	312	N/A	INTRINSIC
transmembrane domain	319	341	N/A	INTRINSIC
transmembrane domain	394	416	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

None

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa1b	A	C	9: 118,986,014 (GRCm39)	S17A	probably benign	Het
Acp1	T	G	12: 30,945,948 (GRCm39)	N135T	probably benign	Het
Adamts2	A	G	11: 50,667,096 (GRCm39)		probably benign	Het
Arfgef2	C	T	2: 166,710,808 (GRCm39)		probably benign	Het
Atp10b	T	A	11: 43,085,482 (GRCm39)	I287N	probably damaging	Het
Camta1	T	A	4: 151,537,756 (GRCm39)	K141N	probably damaging	Het
Carmil1	T	C	13: 24,220,355 (GRCm39)	D719G	probably benign	Het
Cntnap5c	T	A	17: 58,666,229 (GRCm39)	H1086Q	probably benign	Het
Dsg3	A	G	18: 20,670,300 (GRCm39)		probably null	Het
Emilin3	G	A	2: 160,750,649 (GRCm39)	Q320*	probably null	Het
G6pd2	A	G	5: 61,966,816 (GRCm39)	Y197C	probably damaging	Het
Il13ra1	G	T	X: 35,394,247 (GRCm39)		probably benign	Het
Ivl	G	A	3: 92,479,733 (GRCm39)	P111S	probably benign	Het
Kmt2a	T	C	9: 44,722,263 (GRCm39)		probably benign	Het
Lztr1	T	C	16: 17,339,348 (GRCm39)	S57P	possibly damaging	Het
Mtss1	T	G	15: 58,930,249 (GRCm39)	D32A	probably damaging	Het
Mylk	G	A	16: 34,773,151 (GRCm39)	D1250N	probably benign	Het
Ncln	A	G	10: 81,325,799 (GRCm39)	F349L	probably benign	Het
Pgap1	A	G	1: 54,572,572 (GRCm39)		probably benign	Het
Rarres2	T	C	6: 48,547,239 (GRCm39)	D107G	probably benign	Het
Ric3	T	C	7: 108,637,925 (GRCm39)	D276G	probably benign	Het
Trim54	A	G	5: 31,294,489 (GRCm39)	D339G	probably benign	Het
Trip11	G	A	12: 101,850,195 (GRCm39)	H1005Y	probably damaging	Het
Tulp4	G	T	17: 6,263,654 (GRCm39)		probably benign	Het
Vmn1r181	A	T	7: 23,684,027 (GRCm39)	D164V	probably damaging	Het
Vmn1r78	T	A	7: 11,887,291 (GRCm39)	S301T	probably benign	Het
Vmn1r85	T	C	7: 12,818,692 (GRCm39)	N151D	probably benign	Het
Wnk2	T	C	13: 49,197,865 (GRCm39)	K2008E	probably damaging	Het
Wrap73	A	G	4: 154,229,691 (GRCm39)		probably benign	Het
Zfp408	G	A	2: 91,478,153 (GRCm39)	A41V	probably benign	Het
Zfp472	A	G	17: 33,196,545 (GRCm39)	S207G	probably benign	Het

Other mutations in Unc93a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00570:Unc93a	APN	17	13,339,643 (GRCm39)	splice site	probably null
IGL02950:Unc93a	APN	17	13,344,455 (GRCm39)	missense	probably damaging	1.00
IGL03192:Unc93a	APN	17	13,335,073 (GRCm39)	nonsense	probably null
R1603:Unc93a	UTSW	17	13,328,521 (GRCm39)	missense	probably benign	0.01
R4799:Unc93a	UTSW	17	13,339,782 (GRCm39)	splice site	probably null
R5898:Unc93a	UTSW	17	13,344,464 (GRCm39)	missense	probably damaging	1.00
R7317:Unc93a	UTSW	17	13,335,171 (GRCm39)	missense	probably benign	0.36
R7772:Unc93a	UTSW	17	13,328,639 (GRCm39)	missense	possibly damaging	0.93
R8121:Unc93a	UTSW	17	13,328,560 (GRCm39)	missense	probably benign	0.07
R8696:Unc93a	UTSW	17	13,341,852 (GRCm39)	missense	probably damaging	1.00
R8774:Unc93a	UTSW	17	13,341,837 (GRCm39)	missense	probably damaging	1.00
R8774-TAIL:Unc93a	UTSW	17	13,341,837 (GRCm39)	missense	probably damaging	1.00
R9167:Unc93a	UTSW	17	13,335,108 (GRCm39)	missense	possibly damaging	0.69
R9250:Unc93a	UTSW	17	13,334,488 (GRCm39)	missense	probably benign

Posted On

2016-08-02