Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02125:Gpatch11'

280827

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gpatch11

Ensembl Gene

ENSMUSG00000050668

Gene Name

G patch domain containing 11

Synonyms

2310002B06Rik, Ccdc75

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

IGL02125

Quality Score

Status

Chromosome

Chromosomal Location

79142996-79155737 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 79147538 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 106 (N106K)

Ref Sequence

ENSEMBL: ENSMUSP00000126814 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097281] [ENSMUST00000170759]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000097281

SMART Domains

Protein: ENSMUSP00000094882
Gene: ENSMUSG00000039414

Domain	Start	End	E-Value	Type
SCOP:d1qbkb_	46	491	4e-6	SMART
SCOP:d1qbkb_	846	1338	2e-16	SMART
low complexity region	1641	1650	N/A	INTRINSIC
low complexity region	2039	2057	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170759
AA Change: N106K

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000126814
Gene: ENSMUSG00000050668
AA Change: N106K

Domain	Start	End	E-Value	Type
G_patch	71	117	5.8e-14	SMART
DUF4187	195	263	1.51e-25	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	A	T	8: 56,324,974 (GRCm39)	C493*	probably null	Het
Aldh16a1	G	A	7: 44,795,459 (GRCm39)	P400L	probably damaging	Het
Ankrd12	A	G	17: 66,277,139 (GRCm39)		probably benign	Het
Anxa5	G	A	3: 36,506,413 (GRCm39)	T213I	probably damaging	Het
Baz2b	A	G	2: 59,798,984 (GRCm39)	L380S	probably benign	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Cacna2d2	C	T	9: 107,391,103 (GRCm39)	Q411*	probably null	Het
Cdh19	A	G	1: 110,857,614 (GRCm39)	V240A	possibly damaging	Het
Cltc	A	T	11: 86,595,636 (GRCm39)		probably benign	Het
Dclk3	T	A	9: 111,298,175 (GRCm39)	V573E	probably damaging	Het
Dhx29	T	C	13: 113,091,834 (GRCm39)		probably benign	Het
Dip2b	T	C	15: 100,084,131 (GRCm39)	L918P	possibly damaging	Het
Dzip3	A	T	16: 48,747,959 (GRCm39)	N1150K	probably damaging	Het
Fgf5	T	C	5: 98,402,391 (GRCm39)	S41P	possibly damaging	Het
Galc	A	T	12: 98,197,768 (GRCm39)	Y120N	probably damaging	Het
Gldc	T	C	19: 30,124,641 (GRCm39)	N219S	probably benign	Het
Gm11563	A	T	11: 99,549,631 (GRCm39)	V41E	unknown	Het
Gpx3	A	G	11: 54,798,068 (GRCm39)	N68S	probably damaging	Het
Ibtk	T	C	9: 85,617,123 (GRCm39)	N150D	probably damaging	Het
Iglc2	G	A	16: 19,017,462 (GRCm39)	P48S	probably benign	Het
Itih5	G	A	2: 10,245,798 (GRCm39)	R629H	probably benign	Het
Kank1	T	A	19: 25,388,067 (GRCm39)	V552E	possibly damaging	Het
Kmt2a	T	A	9: 44,759,983 (GRCm39)	H655L	probably damaging	Het
Mme	A	T	3: 63,256,070 (GRCm39)	N510I	probably damaging	Het
Mrtfb	A	G	16: 13,218,047 (GRCm39)		probably null	Het
Obscn	G	T	11: 58,984,152 (GRCm39)	Q1768K	possibly damaging	Het
Obscn	A	G	11: 58,913,188 (GRCm39)	I6943T	probably damaging	Het
Or51k2	T	A	7: 103,596,279 (GRCm39)	C169S	probably damaging	Het
Or5ac25	T	C	16: 59,181,879 (GRCm39)	N234S	probably benign	Het
Otud3	A	T	4: 138,624,025 (GRCm39)		probably null	Het
Parp4	A	G	14: 56,827,959 (GRCm39)	K237E	probably benign	Het
Pfkfb4	C	T	9: 108,854,178 (GRCm39)	R351W	probably damaging	Het
Pttg1ip2	T	C	5: 5,500,644 (GRCm39)	*151W	probably null	Het
Rbbp6	T	C	7: 122,570,352 (GRCm39)		probably null	Het
Rdh16	G	T	10: 127,647,188 (GRCm39)		probably benign	Het
Ropn1	A	G	16: 34,487,147 (GRCm39)	T28A	probably benign	Het
Sec24d	T	C	3: 123,152,607 (GRCm39)	V873A	probably damaging	Het
Serpinb3b	T	A	1: 107,082,474 (GRCm39)	L263F	probably damaging	Het
Shq1	T	C	6: 100,607,967 (GRCm39)	T315A	probably benign	Het
Slc13a4	T	C	6: 35,255,223 (GRCm39)	E355G	probably benign	Het
Slc26a9	T	C	1: 131,687,175 (GRCm39)	S445P	probably damaging	Het
Slc39a10	G	A	1: 46,857,288 (GRCm39)	A696V	probably damaging	Het
Slc4a10	A	T	2: 62,098,515 (GRCm39)	M550L	probably benign	Het
Spata31e5	T	C	1: 28,815,419 (GRCm39)	N871S	possibly damaging	Het
Syt17	T	C	7: 118,009,197 (GRCm39)	D341G	probably benign	Het
Tmem62	A	G	2: 120,826,993 (GRCm39)	Y430C	probably benign	Het
Upp1	A	G	11: 9,075,650 (GRCm39)		probably benign	Het
Vmn1r91	T	G	7: 19,835,429 (GRCm39)	V116G	probably damaging	Het
Vmn2r101	A	T	17: 19,809,963 (GRCm39)	I250F	possibly damaging	Het
Vmn2r116	T	G	17: 23,616,601 (GRCm39)		probably benign	Het
Vmn2r72	C	T	7: 85,399,919 (GRCm39)	V377I	probably benign	Het
Zfp592	G	T	7: 80,687,932 (GRCm39)	A953S	probably benign	Het

Other mutations in Gpatch11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02007:Gpatch11	APN	17	79,149,593 (GRCm39)	missense	probably benign
IGL02183:Gpatch11	APN	17	79,149,660 (GRCm39)	critical splice donor site	probably null
IGL02223:Gpatch11	APN	17	79,152,608 (GRCm39)	missense	probably benign	0.23
IGL02224:Gpatch11	APN	17	79,148,522 (GRCm39)	splice site	probably benign
IGL03116:Gpatch11	APN	17	79,151,282 (GRCm39)	nonsense	probably null
FR4340:Gpatch11	UTSW	17	79,149,603 (GRCm39)	small insertion	probably benign
FR4342:Gpatch11	UTSW	17	79,149,607 (GRCm39)	small insertion	probably benign
FR4449:Gpatch11	UTSW	17	79,149,610 (GRCm39)	small insertion	probably benign
FR4449:Gpatch11	UTSW	17	79,149,605 (GRCm39)	small insertion	probably benign
FR4449:Gpatch11	UTSW	17	79,149,597 (GRCm39)	small insertion	probably benign
FR4548:Gpatch11	UTSW	17	79,149,604 (GRCm39)	small insertion	probably benign
FR4737:Gpatch11	UTSW	17	79,149,609 (GRCm39)	small insertion	probably benign
FR4737:Gpatch11	UTSW	17	79,149,600 (GRCm39)	small insertion	probably benign
FR4976:Gpatch11	UTSW	17	79,149,601 (GRCm39)	small insertion	probably benign
FR4976:Gpatch11	UTSW	17	79,149,600 (GRCm39)	small insertion	probably benign
FR4976:Gpatch11	UTSW	17	79,149,599 (GRCm39)	small insertion	probably benign
FR4976:Gpatch11	UTSW	17	79,149,609 (GRCm39)	small insertion	probably benign
FR4976:Gpatch11	UTSW	17	79,149,602 (GRCm39)	nonsense	probably null
R1670:Gpatch11	UTSW	17	79,146,529 (GRCm39)	missense	possibly damaging	0.85
R1986:Gpatch11	UTSW	17	79,151,266 (GRCm39)	missense	probably benign	0.04
R2071:Gpatch11	UTSW	17	79,148,514 (GRCm39)	critical splice donor site	probably null
R3056:Gpatch11	UTSW	17	79,151,272 (GRCm39)	missense	probably damaging	1.00
R4348:Gpatch11	UTSW	17	79,148,446 (GRCm39)	missense	probably damaging	1.00
R4352:Gpatch11	UTSW	17	79,148,446 (GRCm39)	missense	probably damaging	1.00
R5426:Gpatch11	UTSW	17	79,148,663 (GRCm39)	missense	possibly damaging	0.47
R5546:Gpatch11	UTSW	17	79,149,548 (GRCm39)	nonsense	probably null
R6681:Gpatch11	UTSW	17	79,147,528 (GRCm39)	missense	probably damaging	1.00
R7221:Gpatch11	UTSW	17	79,149,546 (GRCm39)	missense	possibly damaging	0.69
R7409:Gpatch11	UTSW	17	79,146,595 (GRCm39)	missense	probably damaging	1.00
R7662:Gpatch11	UTSW	17	79,146,484 (GRCm39)	missense	probably benign	0.44
R8906:Gpatch11	UTSW	17	79,145,289 (GRCm39)	missense	probably benign	0.17
R9265:Gpatch11	UTSW	17	79,146,547 (GRCm39)	missense	probably benign	0.11
R9277:Gpatch11	UTSW	17	79,148,446 (GRCm39)	missense	possibly damaging	0.72

Posted On

2015-04-16