Mutagenetix > Incidental Mutation

Incidental Mutation 'R9277:Gpatch11'

703403

Institutional Source

Beutler Lab

Gene Symbol

Gpatch11

Ensembl Gene

ENSMUSG00000050668

Gene Name

G patch domain containing 11

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9277 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78835516-78848299 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78841017 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 128 (L128Q)

Ref Sequence

ENSEMBL: ENSMUSP00000126814 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170759
AA Change: L128Q

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000126814
Gene: ENSMUSG00000050668
AA Change: L128Q

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	C	11: 109,976,521	Y237C	probably damaging	Het
Adam12	T	C	7: 133,919,832	S566G	probably benign	Het
Afdn	T	A	17: 13,804,008	C59S	probably damaging	Het
Apob	A	T	12: 8,011,183	I3222F	probably benign	Het
Cdyl	A	G	13: 35,858,239	D420G	probably benign	Het
Cela1	C	A	15: 100,683,013	A121S	possibly damaging	Het
Clip2	A	G	5: 134,500,109	M822T	probably benign	Het
Coq8a	G	A	1: 180,179,211	T84I	probably benign	Het
Dars2	G	A	1: 161,049,957	A390V	probably benign	Het
Dhx40	C	T	11: 86,770,230	M744I	probably benign	Het
Dnajc14	A	G	10: 128,806,820	I204V	probably benign	Het
Eftud2	A	C	11: 102,860,029	F322V	probably damaging	Het
Eif4g2	G	A	7: 111,074,859	A646V	probably damaging	Het
Faim2	T	C	15: 99,521,216	T91A	probably benign	Het
Fam160a1	C	A	3: 85,672,258	R880L	probably benign	Het
Fancl	A	T	11: 26,468,847	I290F	possibly damaging	Het
Fermt3	A	T	19: 7,013,877	Y253N	possibly damaging	Het
Frem3	T	A	8: 80,690,773	S2036T	probably damaging	Het
Gm10330	A	T	12: 23,779,910	V90E	probably damaging	Het
Gm3147	T	C	5: 94,614,984	T60A	probably benign	Het
Gm6509	A	G	5: 94,624,058	T16A	probably benign	Het
Golga1	T	C	2: 39,024,243	E488G	probably benign	Het
Hoxd9	A	G	2: 74,699,195	N265S	possibly damaging	Het
Igfn1	C	T	1: 135,959,782	V2515M	probably damaging	Het
Itga2b	A	G	11: 102,461,156	L505P	probably damaging	Het
Klrg2	A	G	6: 38,636,556	S171P	probably benign	Het
Lamtor5	A	G	3: 107,279,088	T58A	probably benign	Het
Lgr6	G	T	1: 134,987,479	C787*	probably null	Het
Madd	A	G	2: 91,175,710	F380S	probably damaging	Het
Magi1	A	T	6: 93,943,253	H127Q	possibly damaging	Het
Maml2	A	G	9: 13,620,576	E362G		Het
Mfsd7a	G	T	5: 108,441,998	P513T	probably benign	Het
Morc2b	C	T	17: 33,136,023	G925D	probably benign	Het
Nalcn	C	T	14: 123,281,111	R1672H	probably damaging	Het
Npsr1	A	G	9: 24,313,197	Y290C	possibly damaging	Het
Obox5	A	T	7: 15,757,952	E97D	probably damaging	Het
Parn	C	T	16: 13,664,655		probably null	Het
Pip4k2b	A	T	11: 97,722,446	N241K	probably damaging	Het
Pkn2	A	G	3: 142,810,748	V539A	probably benign	Het
Plpp7	A	T	2: 32,095,812	M1L	probably damaging	Het
Prtg	G	A	9: 72,809,647	S90N	probably benign	Het
Rgs7bp	G	A	13: 104,964,110	T219M	probably damaging	Het
Scgb1b20	G	A	7: 33,373,573	D69N	probably benign	Het
Setd2	A	G	9: 110,550,551	T1145A	probably damaging	Het
Tmem145	A	G	7: 25,309,740	Q359R	probably benign	Het
Trmt5	C	A	12: 73,282,674	D237Y	probably damaging	Het
Vmn1r169	A	T	7: 23,577,965	I261F	probably benign	Het
Vmn1r19	A	T	6: 57,405,337	I292F	unknown	Het
Vmn2r66	T	C	7: 85,011,956	D22G	probably benign	Het
Vwa3b	T	A	1: 37,157,453		probably null	Het
Wbp4	T	A	14: 79,476,913	D53V	probably benign	Het
Xpo1	A	G	11: 23,291,550	I866V	probably benign	Het
Zan	G	A	5: 137,463,992	P975L	unknown	Het
Zdhhc19	G	A	16: 32,497,694	R89Q	probably benign	Het
Zer1	G	A	2: 30,111,285	T69I	probably benign	Het
Zfp827	C	T	8: 79,060,400	T65I	probably damaging	Het
Zswim9	A	G	7: 13,261,057	F391S	probably 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
R2071:Gpatch11	UTSW	17	78841085	critical splice donor site	probably null
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

Predicted Primers

PCR Primer
(F):5'- TCAAGCCATGCATTTGGGCC -3'
(R):5'- AACAGTACAGTGGGGTCTGC -3'

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

Posted On

2022-03-25