Mutagenetix > Incidental Mutation

Incidental Mutation 'R2071:Gpatch11'

227186

Institutional Source

Beutler Lab

Gene Symbol

Gpatch11

Ensembl Gene

ENSMUSG00000050668

Gene Name

G patch domain containing 11

Synonyms

MMRRC Submission

040076-MU

Accession Numbers

Essential gene?

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

Stock #

R2071 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78835516-78848299 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 78841085 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126814 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000170759

SMART Domains

Protein: ENSMUSP00000126814
Gene: ENSMUSG00000050668

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

Predicted Effect

probably null
Transcript: ENSMUST00000170759

SMART Domains

Protein: ENSMUSP00000126814
Gene: ENSMUSG00000050668

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700066M21Rik	T	A	1: 57,383,315	H283Q	probably damaging	Het
2810021J22Rik	A	G	11: 58,876,769	K31E	probably damaging	Het
Abcc10	G	C	17: 46,303,565	N1477K	probably benign	Het
Adam33	T	C	2: 131,055,346	T310A	probably benign	Het
Afm	A	G	5: 90,523,735	D92G	probably benign	Het
Arg1	C	T	10: 24,922,663	A30T	probably benign	Het
Ash1l	C	G	3: 88,966,203	P98A	probably damaging	Het
Atad5	A	T	11: 80,098,052		probably null	Het
Atg2a	T	C	19: 6,257,458	V1474A	probably benign	Het
Atp12a	A	G	14: 56,366,009	K24E	probably benign	Het
Auh	G	A	13: 52,835,496	P308L	probably benign	Het
B3gnt4	A	T	5: 123,511,370	H266L	probably benign	Het
Bora	T	C	14: 99,062,278	S229P	probably damaging	Het
C87414	T	G	5: 93,636,516	Q363P	probably damaging	Het
Cdsn	A	T	17: 35,554,694	D40V	probably damaging	Het
Cep295	T	C	9: 15,341,564	R323G	probably damaging	Het
Chek2	T	C	5: 110,841,246		probably benign	Het
Chga	A	T	12: 102,562,863	K366N	probably damaging	Het
Chrm5	T	C	2: 112,479,227	K515E	probably null	Het
Cmtr1	A	G	17: 29,694,783		probably null	Het
Cyr61	C	T	3: 145,648,673	W161*	probably null	Het
Dsg3	T	C	18: 20,536,825	L632S	probably damaging	Het
Fam129a	T	C	1: 151,636,430	F28L	probably damaging	Het
Fzd3	A	G	14: 65,235,563	F252S	probably damaging	Het
Gas2l2	T	C	11: 83,421,949	K846E	probably benign	Het
Gm21761	A	T	13: 119,912,300	D151E	probably benign	Het
Gm8300	T	A	12: 87,517,052	F52L	probably benign	Het
Gucy2g	T	A	19: 55,222,340	Y661F	possibly damaging	Het
Hhip	A	G	8: 80,057,302	F72L	probably benign	Het
Kat14	T	C	2: 144,389,216	L181P	probably damaging	Het
Kifc3	A	T	8: 95,108,353		probably null	Het
Kntc1	G	T	5: 123,794,277		probably null	Het
Man2b1	G	T	8: 85,085,384	V156L	possibly damaging	Het
Mast1	T	C	8: 84,921,194	D517G	probably damaging	Het
Mc1r	T	C	8: 123,408,369	L287P	possibly damaging	Het
Mctp1	A	T	13: 76,759,724	E238V	probably damaging	Het
Mmp12	T	A	9: 7,349,725	I52N	probably damaging	Het
Morc1	C	T	16: 48,592,611	T705I	probably benign	Het
Mrpl24	T	C	3: 87,923,067		probably null	Het
Nap1l1	C	T	10: 111,492,900	T230I	possibly damaging	Het
Nmral1	T	A	16: 4,716,347	I77F	probably damaging	Het
Nudt13	T	A	14: 20,303,977	D36E	probably damaging	Het
Oxsm	A	G	14: 16,241,983	L262P	probably benign	Het
Pde10a	A	T	17: 8,961,995	I754F	probably benign	Het
Pdzph1	T	C	17: 58,974,097	R397G	probably benign	Het
Polr1a	T	A	6: 71,976,074	V567E	possibly damaging	Het
Pou3f2	A	G	4: 22,488,076	V19A	probably benign	Het
Pth1r	A	G	9: 110,727,013	I264T	probably benign	Het
Ptprn	C	A	1: 75,255,144	G504C	probably damaging	Het
Rbak	A	G	5: 143,176,584	L8P	probably damaging	Het
Rev3l	T	A	10: 39,824,353	D1615E	probably benign	Het
Rhob	A	G	12: 8,499,232	M134T	probably benign	Het
Slc10a4	T	C	5: 73,007,497	L144P	probably damaging	Het
Slc45a3	T	C	1: 131,977,632	L131P	probably damaging	Het
Slf1	T	A	13: 77,104,624	E259D	probably benign	Het
Slitrk5	A	G	14: 111,680,189	Y415C	probably damaging	Het
Sohlh2	A	G	3: 55,207,622	I343V	probably benign	Het
Sorl1	T	C	9: 41,979,457	D1922G	possibly damaging	Het
Spats2l	T	A	1: 57,940,464	I243N	possibly damaging	Het
Specc1	A	C	11: 62,117,875	K152N	probably damaging	Het
Sv2a	G	A	3: 96,193,875	A730T	possibly damaging	Het
Tars2	C	A	3: 95,747,638	G113C	probably damaging	Het
Tep1	T	C	14: 50,854,282	K601E	probably benign	Het
Tmem8	T	C	17: 26,122,043	Y176H	probably damaging	Het
Trp53	A	G	11: 69,589,632	D278G	probably damaging	Het
Ttc39d	G	A	17: 80,216,601	G230R	probably damaging	Het
Tubb2b	T	A	13: 34,128,261	Y183F	probably damaging	Het
Ubxn7	T	A	16: 32,372,469	C160S	possibly damaging	Het
Vcp	A	G	4: 42,995,894		probably null	Het
Vmn1r201	T	C	13: 22,474,825	F70L	probably benign	Het
Vmn1r49	C	T	6: 90,072,202	V273I	probably benign	Het
Vmn2r103	A	T	17: 19,793,794	I283L	probably benign	Het
Xpr1	T	C	1: 155,290,280	T574A	probably benign	Het
Zfp408	A	G	2: 91,646,018	F364L	probably damaging	Het
Zfyve26	A	G	12: 79,287,446	L266P	possibly damaging	Het

Other mutations in Gpatch11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02007:Gpatch11	APN	17	78842164	missense	probably benign
IGL02125:Gpatch11	APN	17	78840109	missense	probably benign	0.21
IGL02183:Gpatch11	APN	17	78842231	critical splice donor site	probably null
IGL02223:Gpatch11	APN	17	78845179	missense	probably benign	0.23
IGL02224:Gpatch11	APN	17	78841093	splice site	probably benign
IGL03116:Gpatch11	APN	17	78843853	nonsense	probably null
FR4340:Gpatch11	UTSW	17	78842174	small insertion	probably benign
FR4342:Gpatch11	UTSW	17	78842178	small insertion	probably benign
FR4449:Gpatch11	UTSW	17	78842168	small insertion	probably benign
FR4449:Gpatch11	UTSW	17	78842176	small insertion	probably benign
FR4449:Gpatch11	UTSW	17	78842181	small insertion	probably benign
FR4548:Gpatch11	UTSW	17	78842175	small insertion	probably benign
FR4737:Gpatch11	UTSW	17	78842171	small insertion	probably benign
FR4737:Gpatch11	UTSW	17	78842180	small insertion	probably benign
FR4976:Gpatch11	UTSW	17	78842170	small insertion	probably benign
FR4976:Gpatch11	UTSW	17	78842171	small insertion	probably benign
FR4976:Gpatch11	UTSW	17	78842172	small insertion	probably benign
FR4976:Gpatch11	UTSW	17	78842173	nonsense	probably null
FR4976:Gpatch11	UTSW	17	78842180	small insertion	probably benign
R1670:Gpatch11	UTSW	17	78839100	missense	possibly damaging	0.85
R1986:Gpatch11	UTSW	17	78843837	missense	probably benign	0.04
R3056:Gpatch11	UTSW	17	78843843	missense	probably damaging	1.00
R4348:Gpatch11	UTSW	17	78841017	missense	probably damaging	1.00
R4352:Gpatch11	UTSW	17	78841017	missense	probably damaging	1.00
R5426:Gpatch11	UTSW	17	78841234	missense	possibly damaging	0.47
R5546:Gpatch11	UTSW	17	78842119	nonsense	probably null
R6681:Gpatch11	UTSW	17	78840099	missense	probably damaging	1.00
R7221:Gpatch11	UTSW	17	78842117	missense	possibly damaging	0.69
R7409:Gpatch11	UTSW	17	78839166	missense	probably damaging	1.00
R7662:Gpatch11	UTSW	17	78839055	missense	probably benign	0.44
R8906:Gpatch11	UTSW	17	78837860	missense	probably benign	0.17
R9265:Gpatch11	UTSW	17	78839118	missense	probably benign	0.11
R9277:Gpatch11	UTSW	17	78841017	missense	possibly damaging	0.72

Predicted Primers

PCR Primer
(F):5'- TTTGGGCCCAAAGACCAAAC -3'
(R):5'- GTACACTACTGGACTGGGAAC -3'

Sequencing Primer
(F):5'- AAACTAAACCCTAGTGTTTTCTGC -3'
(R):5'- GGAACAGATGCCCGCCTAC -3'

Posted On

2014-09-17