Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01590:Gpatch3'

91582

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gpatch3

Ensembl Gene

ENSMUSG00000028850

Gene Name

G patch domain containing 3

Synonyms

Gpatc3, D930035B09Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

IGL01590

Quality Score

Status

Chromosome

Chromosomal Location

133302056-133311553 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 133308028 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000101519 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030661] [ENSMUST00000030662] [ENSMUST00000105899]

AlphaFold

Q8BIY1

Predicted Effect

probably benign
Transcript: ENSMUST00000030661

SMART Domains

Protein: ENSMUSP00000030661
Gene: ENSMUSG00000028848

Domain	Start	End	E-Value	Type
Pfam:ATP_bind_1	14	261	6.6e-81	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000030662

SMART Domains

Protein: ENSMUSP00000030662
Gene: ENSMUSG00000028850

Domain	Start	End	E-Value	Type
low complexity region	83	97	N/A	INTRINSIC
low complexity region	274	305	N/A	INTRINSIC
G_patch	409	457	1.3e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105899

SMART Domains

Protein: ENSMUSP00000101519
Gene: ENSMUSG00000028848

Domain	Start	End	E-Value	Type
Pfam:ATP_bind_1	14	117	9.2e-42	PFAM
Pfam:ATP_bind_1	115	238	4.3e-28	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148909

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154648

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	T	A	2: 19,482,590 (GRCm39)		probably benign	Het
Adgrb2	T	G	4: 129,907,606 (GRCm39)		probably benign	Het
Apcs	C	T	1: 172,722,034 (GRCm39)	G104D	probably damaging	Het
Atp10b	G	A	11: 43,063,548 (GRCm39)	R161H	probably benign	Het
Cep250	A	T	2: 155,834,237 (GRCm39)	Q2054L	possibly damaging	Het
Dennd6a	T	G	14: 26,340,507 (GRCm39)	V207G	probably benign	Het
Ehbp1	C	A	11: 22,045,611 (GRCm39)	D688Y	possibly damaging	Het
Fam83a	C	A	15: 57,873,173 (GRCm39)	S334Y	probably damaging	Het
Fam83e	T	A	7: 45,373,360 (GRCm39)	F242Y	probably null	Het
Fnip1	A	T	11: 54,384,126 (GRCm39)	D341V	probably damaging	Het
Gpc2	C	A	5: 138,272,640 (GRCm39)	V558F	probably damaging	Het
H2-M10.6	A	G	17: 37,123,641 (GRCm39)	N112D	probably benign	Het
Hs6st1	A	T	1: 36,142,785 (GRCm39)	D240V	probably damaging	Het
Inpp5f	T	A	7: 128,266,031 (GRCm39)		probably null	Het
Itga8	G	T	2: 12,165,144 (GRCm39)	H822N	probably damaging	Het
Kif20b	T	A	19: 34,932,126 (GRCm39)	N1263K	possibly damaging	Het
Krt28	A	G	11: 99,265,220 (GRCm39)		probably null	Het
Muc5ac	A	T	7: 141,352,630 (GRCm39)	M706L	probably benign	Het
Or1j12	A	T	2: 36,343,004 (GRCm39)	M136L	probably benign	Het
Or52h9	A	C	7: 104,202,782 (GRCm39)	I219L	probably benign	Het
Prox2	A	G	12: 85,134,845 (GRCm39)	W479R	probably damaging	Het
Rps19	A	T	7: 24,587,881 (GRCm39)	D152V	probably damaging	Het
Slc20a1	G	A	2: 129,051,146 (GRCm39)		probably benign	Het
Slc7a2	C	T	8: 41,367,137 (GRCm39)	P564S	probably damaging	Het
Slco1a5	C	A	6: 142,196,045 (GRCm39)	M319I	probably benign	Het
Spmip2	A	C	3: 79,356,647 (GRCm39)	N150T	probably damaging	Het
Spopfm3	G	A	3: 94,105,674 (GRCm39)		probably benign	Het
Tanc1	A	G	2: 59,615,817 (GRCm39)	T275A	probably benign	Het
Tenm3	A	G	8: 48,681,837 (GRCm39)	S2598P	probably damaging	Het
Tiparp	G	A	3: 65,439,397 (GRCm39)	E56K	probably benign	Het
Trpm5	G	A	7: 142,636,471 (GRCm39)	R489C	probably damaging	Het
Vmn2r84	C	A	10: 130,221,964 (GRCm39)	G752V	probably damaging	Het
Wnt5b	T	A	6: 119,417,515 (GRCm39)	T130S	possibly damaging	Het

Other mutations in Gpatch3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02876:Gpatch3	APN	4	133,307,995 (GRCm39)	missense	probably damaging	1.00
IGL03181:Gpatch3	APN	4	133,305,433 (GRCm39)	missense	probably damaging	1.00
ANU23:Gpatch3	UTSW	4	133,305,613 (GRCm39)	small deletion	probably benign
PIT4585001:Gpatch3	UTSW	4	133,310,397 (GRCm39)	missense	probably damaging	0.99
R0358:Gpatch3	UTSW	4	133,305,215 (GRCm39)	splice site	probably null
R0383:Gpatch3	UTSW	4	133,305,457 (GRCm39)	missense	probably damaging	1.00
R1706:Gpatch3	UTSW	4	133,302,484 (GRCm39)	nonsense	probably null
R2269:Gpatch3	UTSW	4	133,311,118 (GRCm39)	missense	possibly damaging	0.83
R3788:Gpatch3	UTSW	4	133,302,479 (GRCm39)	missense	possibly damaging	0.93
R4030:Gpatch3	UTSW	4	133,305,458 (GRCm39)	missense	possibly damaging	0.94
R4334:Gpatch3	UTSW	4	133,309,792 (GRCm39)	missense	probably damaging	1.00
R4718:Gpatch3	UTSW	4	133,309,855 (GRCm39)	missense	probably benign	0.37
R5036:Gpatch3	UTSW	4	133,305,461 (GRCm39)	missense	probably damaging	1.00
R6032:Gpatch3	UTSW	4	133,305,617 (GRCm39)	missense	probably benign	0.06
R6032:Gpatch3	UTSW	4	133,305,617 (GRCm39)	missense	probably benign	0.06
R6572:Gpatch3	UTSW	4	133,302,191 (GRCm39)	missense	probably damaging	1.00
R6923:Gpatch3	UTSW	4	133,309,836 (GRCm39)	missense	probably damaging	1.00
R7106:Gpatch3	UTSW	4	133,305,514 (GRCm39)	missense	probably benign	0.05
R7572:Gpatch3	UTSW	4	133,302,117 (GRCm39)	missense	probably benign	0.01
R7737:Gpatch3	UTSW	4	133,302,407 (GRCm39)	missense	probably benign	0.01
R7937:Gpatch3	UTSW	4	133,310,308 (GRCm39)	missense	probably damaging	0.98
R8300:Gpatch3	UTSW	4	133,307,140 (GRCm39)	missense	probably damaging	1.00
R9541:Gpatch3	UTSW	4	133,305,595 (GRCm39)	missense	probably benign	0.01
RF025:Gpatch3	UTSW	4	133,305,621 (GRCm39)	frame shift	probably null

Posted On

2013-12-09