Mutagenetix > Incidental Mutation

Incidental Mutation 'R9265:Gpatch11'

702499

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 #

R9265 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78835516-78848299 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78839118 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 64 (D64G)

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: D64G

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000126814
Gene: ENSMUSG00000050668
AA Change: D64G

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: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (46/47)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh3a2	T	C	11: 61,262,268	K211E	probably damaging	Het
Apba2	G	T	7: 64,743,272	A514S	probably damaging	Het
Aspm	C	T	1: 139,461,444	T615I	probably benign	Het
Atrnl1	T	A	19: 57,777,927	F1232Y	probably benign	Het
B4galt3	A	G	1: 171,274,047	D197G	probably damaging	Het
Calcrl	T	G	2: 84,370,056	N127H	possibly damaging	Het
Camkv	T	G	9: 107,948,063	I421S	possibly damaging	Het
Cdc123	T	C	2: 5,803,954	D237G	possibly damaging	Het
Cilp	A	G	9: 65,280,051	T1143A	probably benign	Het
Col5a1	G	A	2: 27,964,111	R569K	unknown	Het
Cpn1	T	C	19: 43,970,160	I201V	probably damaging	Het
Cr1l	T	C	1: 195,123,719	D152G	probably benign	Het
Csf2rb	A	T	15: 78,348,546	E684D	probably benign	Het
Csmd2	A	T	4: 128,400,370	N1164I		Het
Ddx42	A	G	11: 106,241,609	N486S	probably benign	Het
Dnah6	A	G	6: 73,083,057	I2848T	probably benign	Het
Dnah7a	T	C	1: 53,635,346	D424G	probably benign	Het
Dnah9	T	C	11: 65,841,255	H4275R	probably benign	Het
Epha6	G	A	16: 59,655,754	T1083M	probably damaging	Het
Fzd1	A	G	5: 4,757,216	I122T	probably damaging	Het
Gm28042	T	C	2: 120,041,224	F914S	probably damaging	Het
Hinfp	A	G	9: 44,297,786	V345A	possibly damaging	Het
Hoxd8	C	T	2: 74,705,771	S75L	probably benign	Het
Igsf1	A	G	X: 49,795,314	M2T	possibly damaging	Het
Krt42	C	T	11: 100,266,982	E219K	probably damaging	Het
Mcm3	C	A	1: 20,809,681	D531Y	probably damaging	Het
Msantd1	C	T	5: 34,923,517	R264*	probably null	Het
Nadk2	A	G	15: 9,071,694	T65A	probably damaging	Het
Nbea	AC	A	3: 56,090,972		probably null	Het
Neb	T	C	2: 52,199,444	D5172G	probably null	Het
Nlrp9a	G	T	7: 26,558,613	R552I	possibly damaging	Het
Nr3c2	A	G	8: 76,909,607	T446A	probably benign	Het
Olfr1265	T	C	2: 90,037,498	I193T	probably benign	Het
Olfr577	C	T	7: 102,973,905	W29*	probably null	Het
Olfr605	C	A	7: 103,442,958	R55L	possibly damaging	Het
Olfr836	T	A	9: 19,121,688	C241*	probably null	Het
Pcdhb10	A	G	18: 37,413,500	Q543R	possibly damaging	Het
Pcdhga6	A	G	18: 37,708,049	H274R	possibly damaging	Het
Pknox1	A	G	17: 31,590,698	D92G	probably damaging	Het
Pnpla6	C	T	8: 3,523,294	P386L	probably benign	Het
Rlf	G	C	4: 121,150,290	P608A	possibly damaging	Het
Sardh	A	T	2: 27,215,053	I686N	probably damaging	Het
Sstr3	G	T	15: 78,539,592	N318K	probably damaging	Het
St6gal1	A	G	16: 23,321,418	Y113C	probably damaging	Het
Syndig1	T	C	2: 150,003,240	F228L	probably damaging	Het
Ttll5	T	A	12: 85,891,021	C375*	probably null	Het
Zscan4c	T	A	7: 11,006,897	S114R	probably benign	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	78842172	small insertion	probably benign
FR4976:Gpatch11	UTSW	17	78842173	nonsense	probably null
FR4976:Gpatch11	UTSW	17	78842180	small insertion	probably benign
FR4976:Gpatch11	UTSW	17	78842171	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
R9277:Gpatch11	UTSW	17	78841017	missense	possibly damaging	0.72

Predicted Primers

PCR Primer
(F):5'- GCAAATGTCGGGAACTCACCTAC -3'
(R):5'- ATGTTGGCATGGGAGGCATC -3'

Sequencing Primer
(F):5'- TGTCGGGAACTCACCTACAAGAG -3'
(R):5'- ACATCTCTGAAAGGGCTGTTAGC -3'

Posted On

2022-03-25