Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00913:Unc93a2'

29261

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Unc93a2

Ensembl Gene

ENSMUSG00000056133

Gene Name

unc-93 homolog A2

Synonyms

Gm9992

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

IGL00913

Quality Score

Status

Chromosome

Chromosomal Location

7630214-7652863 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 7637138 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 130 (V130D)

Ref Sequence

ENSEMBL: ENSMUSP00000155918 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070059] [ENSMUST00000231397] [ENSMUST00000231922]

AlphaFold

B2RWK3

Predicted Effect

probably damaging
Transcript: ENSMUST00000070059
AA Change: V350D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000064469
Gene: ENSMUSG00000056133
AA Change: V350D

Domain	Start	End	E-Value	Type
Pfam:UNC-93	11	168	2.7e-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: ENSMUST00000178099

Predicted Effect

probably damaging
Transcript: ENSMUST00000231397
AA Change: V130D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000231922

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf4	A	G	17: 42,977,793 (GRCm39)	S517P	possibly damaging	Het
Arl4c	T	C	1: 88,629,106 (GRCm39)	D94G	probably damaging	Het
Bag5	T	C	12: 111,677,766 (GRCm39)	E19G	probably damaging	Het
Carf	T	A	1: 60,187,114 (GRCm39)	D537E	probably benign	Het
Cd177	C	A	7: 24,455,620 (GRCm39)	D301Y	probably damaging	Het
Csmd1	C	T	8: 16,121,301 (GRCm39)	V1799I	probably benign	Het
Cyp4x1	T	A	4: 114,970,060 (GRCm39)	I356F	probably benign	Het
F5	A	T	1: 164,032,465 (GRCm39)	H1804L	probably damaging	Het
Fras1	G	T	5: 96,842,935 (GRCm39)	G1718C	probably damaging	Het
Ganc	T	C	2: 120,269,933 (GRCm39)		probably benign	Het
Hs3st5	A	G	10: 36,708,846 (GRCm39)	D127G	probably damaging	Het
Inpp5a	A	G	7: 139,096,637 (GRCm39)	D154G	probably benign	Het
Kif16b	T	A	2: 142,545,927 (GRCm39)	R1134*	probably null	Het
Lrrc66	C	T	5: 73,765,499 (GRCm39)	A515T	possibly damaging	Het
Map3k10	C	T	7: 27,362,640 (GRCm39)		probably benign	Het
Mideas	T	A	12: 84,219,632 (GRCm39)	I441L	probably benign	Het
Mrpl12	G	A	11: 120,376,202 (GRCm39)	D71N	possibly damaging	Het
Nfix	A	T	8: 85,453,106 (GRCm39)	V316E	probably damaging	Het
Nop2	A	G	6: 125,116,784 (GRCm39)	Y346C	probably damaging	Het
Nrbp1	A	G	5: 31,408,403 (GRCm39)	E513G	possibly damaging	Het
Ogfrl1	T	C	1: 23,409,171 (GRCm39)	I352V	probably benign	Het
Or7a35	A	G	10: 78,854,085 (GRCm39)	T310A	probably benign	Het
Or8b48	T	A	9: 38,492,672 (GRCm39)	V33E	probably damaging	Het
Oxr1	G	A	15: 41,683,539 (GRCm39)	V15I	possibly damaging	Het
Pik3r6	T	G	11: 68,442,147 (GRCm39)	F697C	probably damaging	Het
Ptk2	A	G	15: 73,167,238 (GRCm39)		probably benign	Het
Rnft2	G	A	5: 118,339,280 (GRCm39)	T380M	probably damaging	Het
Scel	A	G	14: 103,819,245 (GRCm39)	N346S	probably benign	Het
Sema4a	T	A	3: 88,357,117 (GRCm39)	T153S	probably damaging	Het
Serinc2	A	T	4: 130,158,201 (GRCm39)	L82Q	possibly damaging	Het
Sin3a	A	G	9: 57,005,402 (GRCm39)	T392A	probably benign	Het
Slc25a38	T	A	9: 119,949,373 (GRCm39)	Y108*	probably null	Het
Tmc8	G	A	11: 117,677,330 (GRCm39)	G317R	probably damaging	Het
Trpc3	A	G	3: 36,694,788 (GRCm39)	V722A	possibly damaging	Het

Other mutations in Unc93a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01609:Unc93a2	APN	17	7,637,138 (GRCm39)	missense	probably damaging	0.96
R0893:Unc93a2	UTSW	17	7,641,926 (GRCm39)	missense	probably damaging	0.98
R5271:Unc93a2	UTSW	17	7,637,081 (GRCm39)	missense	possibly damaging	0.82
R5326:Unc93a2	UTSW	17	7,637,187 (GRCm39)	missense	probably benign	0.35
R5542:Unc93a2	UTSW	17	7,637,187 (GRCm39)	missense	probably benign	0.35
R5567:Unc93a2	UTSW	17	7,631,202 (GRCm39)	missense	probably benign	0.04
R5750:Unc93a2	UTSW	17	7,637,130 (GRCm39)	missense	probably benign	0.11
R6465:Unc93a2	UTSW	17	7,641,842 (GRCm39)	missense	probably damaging	1.00
R6714:Unc93a2	UTSW	17	7,643,937 (GRCm39)	missense	probably benign	0.05
R7130:Unc93a2	UTSW	17	7,637,824 (GRCm39)	missense	probably benign	0.16
R7142:Unc93a2	UTSW	17	7,644,021 (GRCm39)	missense	probably damaging	0.97
R7222:Unc93a2	UTSW	17	7,643,866 (GRCm39)	missense	probably damaging	1.00
R9359:Unc93a2	UTSW	17	7,641,842 (GRCm39)	missense	probably damaging	1.00
R9386:Unc93a2	UTSW	17	7,637,164 (GRCm39)	nonsense	probably null
Z1176:Unc93a2	UTSW	17	7,643,929 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-04-17