Mutagenetix > Incidental Mutation

Incidental Mutation 'ANU23:Gpatch3'

262629

Institutional Source

Beutler Lab

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: 0.074) question?

Stock #

ANU23

Quality Score

147

Status

Not validated

Chromosome

Chromosomal Location

133302056-133311553 bp(+) (GRCm39)

Type of Mutation

small deletion (1 aa in frame mutation)

DNA Base Change (assembly)

CAGGAGGAGGAGGAGGAG to CAGGAGGAGGAGGAG at 133305613 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000030662 (fasta)

Gene Model

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

AlphaFold

Q8BIY1

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

noncoding transcript
Transcript: ENSMUST00000154648

Coding Region Coverage

1x: 98.7%
3x: 98.2%
10x: 96.6%
20x: 93.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12b	G	A	12: 70,215,822 (GRCm39)	G88S	probably damaging	Het
Acot10	A	G	15: 20,666,051 (GRCm39)	F230S	probably benign	Het
Akap12	G	T	10: 4,303,273 (GRCm39)	A28S	probably benign	Het
Anks1	C	A	17: 28,205,227 (GRCm39)	T262K	probably damaging	Het
Arfgap3	A	G	15: 83,197,710 (GRCm39)	Y349H	possibly damaging	Het
Cacna1g	G	A	11: 94,357,054 (GRCm39)		probably benign	Het
Camsap2	T	A	1: 136,225,528 (GRCm39)	E199D	probably benign	Het
Ccdc13	A	T	9: 121,656,429 (GRCm39)	M128K	probably benign	Het
Ccdc38	T	C	10: 93,405,797 (GRCm39)		probably null	Het
Cep95	G	A	11: 106,704,641 (GRCm39)	V499I	probably benign	Het
Cpne6	G	C	14: 55,749,459 (GRCm39)	M6I	probably benign	Het
Cpne6	A	T	14: 55,752,706 (GRCm39)	I299F	probably damaging	Het
Cse1l	T	A	2: 166,769,428 (GRCm39)	Y278*	probably null	Het
Dip2c	A	G	13: 9,625,179 (GRCm39)	N558D	possibly damaging	Het
Edar	A	T	10: 58,464,460 (GRCm39)	C60S	probably damaging	Het
Fat2	T	C	11: 55,201,698 (GRCm39)	N459D	probably benign	Het
Fbxw8	C	T	5: 118,251,785 (GRCm39)	V243M	possibly damaging	Het
Fem1b	G	A	9: 62,704,810 (GRCm39)	A150V	possibly damaging	Het
Gm5422	A	T	10: 31,125,432 (GRCm39)		noncoding transcript	Het
Grin2c	T	C	11: 115,147,020 (GRCm39)	T392A	probably benign	Het
Idh3a	T	A	9: 54,493,829 (GRCm39)		probably null	Het
Itpk1	T	C	12: 102,572,362 (GRCm39)	E117G	probably damaging	Het
Kif12	G	T	4: 63,084,121 (GRCm39)	P627Q	probably damaging	Het
Krtap15-1	T	A	16: 88,626,255 (GRCm39)	F88L	probably benign	Het
Mcm7	C	T	5: 138,168,653 (GRCm39)	V13I	probably benign	Het
Mlh1	T	C	9: 111,081,980 (GRCm39)	N248D	possibly damaging	Het
Or2i1	T	C	17: 37,507,833 (GRCm39)	N342S	probably benign	Het
Or4k15	A	G	14: 50,364,039 (GRCm39)	N2D	probably benign	Het
Or52z12	T	C	7: 103,233,900 (GRCm39)	Y224H	probably damaging	Het
Per2	T	C	1: 91,376,555 (GRCm39)	H106R	probably damaging	Het
Pfkl	T	A	10: 77,827,229 (GRCm39)	T486S	probably benign	Het
Prkdc	T	C	16: 15,485,595 (GRCm39)	V474A	possibly damaging	Het
Scamp4	C	A	10: 80,445,256 (GRCm39)	Q34K	probably damaging	Het
Serpinb3b	A	G	1: 107,082,395 (GRCm39)	Y290H	probably damaging	Het
Sft2d2	G	T	1: 165,011,564 (GRCm39)	A110E	probably benign	Het
Siglecf	T	A	7: 43,001,377 (GRCm39)	L115*	probably null	Het
Slc6a11	C	T	6: 114,111,626 (GRCm39)	T103M	probably damaging	Het
Slco1a1	T	A	6: 141,892,313 (GRCm39)	K18*	probably null	Het
Spata1	A	T	3: 146,193,154 (GRCm39)	Y112*	probably null	Het
Tbc1d32	G	A	10: 56,056,620 (GRCm39)	T440I	probably benign	Het
Vmn1r159	A	G	7: 22,542,588 (GRCm39)	V148A	probably damaging	Het
Wnt16	C	T	6: 22,297,934 (GRCm39)	R267C	probably damaging	Het
Xylt1	A	C	7: 117,148,125 (GRCm39)	S230R	probably benign	Het
Zfp334	T	C	2: 165,223,017 (GRCm39)	H342R	probably damaging	Het

Other mutations in Gpatch3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01590:Gpatch3	APN	4	133,308,028 (GRCm39)	unclassified	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- CAGCTACAGCTCCAGTTTCCCAAG -3'
(R):5'- TCTGTGGAGGAGCCTCAGTCATAC -3'

Sequencing Primer
(F):5'- AGTTTCCCAAGACCGGCTC -3'
(R):5'- tcctcttgcctccatctcc -3'

Posted On

2015-02-04