Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02007:Gpatch11'

182249

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gpatch11

Ensembl Gene

ENSMUSG00000050668

Gene Name

G patch domain containing 11

Synonyms

Accession Numbers

Essential gene?

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

Stock #

IGL02007

Quality Score

Status

Chromosome

Chromosomal Location

78835516-78848299 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78842164 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 198 (T198A)

Ref Sequence

ENSEMBL: ENSMUSP00000126814 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000170759
AA Change: T198A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000126814
Gene: ENSMUSG00000050668
AA Change: T198A

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam28	C	A	14: 68,633,219	R335L	possibly damaging	Het
Adgrv1	T	C	13: 81,568,743		probably benign	Het
Calcrl	A	G	2: 84,375,324	C8R	probably benign	Het
Cntn4	T	A	6: 106,655,529	S505T	probably benign	Het
Cyp3a16	T	C	5: 145,441,948		probably benign	Het
Fam160a1	G	T	3: 85,722,445	P280T	probably damaging	Het
Gm11127	G	T	17: 36,056,330	N333K	possibly damaging	Het
Heatr5a	C	A	12: 51,916,158	L986F	probably damaging	Het
Ift172	A	G	5: 31,286,604	I90T	probably benign	Het
Igkv3-9	A	G	6: 70,588,461		probably benign	Het
Iqsec1	G	A	6: 90,690,349	P369S	probably benign	Het
Myh1	C	A	11: 67,220,556	T1607K	probably benign	Het
Myo18b	T	C	5: 112,874,972		probably benign	Het
Nobox	A	G	6: 43,307,538	L58P	probably damaging	Het
Nwd2	T	A	5: 63,804,699	I542N	possibly damaging	Het
Olfr1301	A	G	2: 111,754,479	T77A	probably damaging	Het
Olfr474	A	G	7: 107,954,746	Y35C	probably damaging	Het
Osm	C	T	11: 4,239,470	R85W	probably damaging	Het
Pcdh20	T	C	14: 88,469,595	R90G	probably benign	Het
Pkhd1l1	T	C	15: 44,533,733		probably benign	Het
Sec14l2	A	G	11: 4,111,114	S116P	probably benign	Het
Selenbp2	A	C	3: 94,698,154	N96H	possibly damaging	Het
Smarcal1	T	C	1: 72,595,940	S393P	probably damaging	Het
Tbc1d1	A	G	5: 64,256,992	Q103R	probably damaging	Het
Tmem63c	T	C	12: 87,072,873	Y314H	probably damaging	Het
Wdr34	A	G	2: 30,038,390	S75P	probably benign	Het
Zfp663	A	C	2: 165,359,073	S14A	probably benign	Het
Zmynd10	A	G	9: 107,550,532	N345S	probably damaging	Het

Other mutations in Gpatch11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R9277:Gpatch11	UTSW	17	78841017	missense	possibly damaging	0.72

Posted On

2014-05-07