Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03192:Unc93a'

412670

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: 0.080) question?

Stock #

IGL03192

Quality Score

Status

Chromosome

Chromosomal Location

13327504-13350697 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 13335073 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 324 (Y324*)

Ref Sequence

ENSEMBL: ENSMUSP00000082032 (fasta)

Gene Model

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

AlphaFold

Q710D3

Predicted Effect

probably null
Transcript: ENSMUST00000084966
AA Change: Y324*

SMART Domains

Protein: ENSMUSP00000082032
Gene: ENSMUSG00000067049
AA Change: Y324*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158775

Coding Region Coverage

Validation Efficiency

Allele List at MGI

None

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh7	G	A	3: 137,933,721 (GRCm39)	G293S	probably damaging	Het
Ahi1	G	A	10: 20,841,534 (GRCm39)	V274I	probably benign	Het
Arfip2	C	T	7: 105,287,150 (GRCm39)	R138H	probably damaging	Het
Asb8	G	A	15: 98,033,776 (GRCm39)	R260C	possibly damaging	Het
Cfh	A	T	1: 140,026,759 (GRCm39)	H531Q	possibly damaging	Het
Clcn7	C	A	17: 25,352,575 (GRCm39)	P42Q	probably benign	Het
Cxcr6	G	T	9: 123,639,111 (GRCm39)	K37N	possibly damaging	Het
Fndc3c1	C	T	X: 105,479,922 (GRCm39)		probably null	Het
Gramd1b	A	T	9: 40,218,097 (GRCm39)	L429H	probably damaging	Het
Grm1	T	C	10: 10,955,660 (GRCm39)	D208G	possibly damaging	Het
H2-T24	C	T	17: 36,326,368 (GRCm39)	W177*	probably null	Het
Il17rc	G	A	6: 113,449,846 (GRCm39)	V151M	probably damaging	Het
Magi3	A	G	3: 103,950,562 (GRCm39)	F741S	probably damaging	Het
Neil1	A	G	9: 57,050,819 (GRCm39)	S339P	probably benign	Het
Nptx1	T	A	11: 119,437,585 (GRCm39)	N182I	probably benign	Het
Or3a1c	T	A	11: 74,046,076 (GRCm39)	I32K	probably benign	Het
Phtf2	A	G	5: 20,966,717 (GRCm39)	V723A	probably damaging	Het
Rbp3	G	T	14: 33,680,540 (GRCm39)	M1047I	possibly damaging	Het
Rhobtb1	A	G	10: 69,084,653 (GRCm39)	I15V	probably damaging	Het
Rtbdn	T	A	8: 85,679,284 (GRCm39)	S30T	probably benign	Het
Serinc4	G	T	2: 121,282,872 (GRCm39)	S430*	probably null	Het
Slc25a33	A	G	4: 149,829,223 (GRCm39)	I312T	probably damaging	Het
Speer3	A	G	5: 13,841,702 (GRCm39)	R11G	possibly damaging	Het
Tbc1d5	A	G	17: 51,291,709 (GRCm39)		probably benign	Het
Wdr31	A	T	4: 62,372,149 (GRCm39)	D322E	possibly damaging	Het
Zbtb9	A	G	17: 27,193,272 (GRCm39)	T226A	probably benign	Het
Zfyve16	T	C	13: 92,657,748 (GRCm39)	E721G	possibly damaging	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
IGL03012:Unc93a	APN	17	13,328,495 (GRCm39)	missense	probably benign	0.09
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