Mutagenetix > Incidental Mutation

Incidental Mutation 'R6681:Gpatch11'

527517

Institutional Source

Beutler Lab

Gene Symbol

Gpatch11

Ensembl Gene

ENSMUSG00000050668

Gene Name

G patch domain containing 11

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

R6681 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78835516-78848299 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78840099 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 103 (I103T)

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 damaging
Transcript: ENSMUST00000170759
AA Change: I103T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000126814
Gene: ENSMUSG00000050668
AA Change: I103T

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: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.6%

Validation Efficiency

98% (45/46)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	T	3: 122,121,798	T971S	probably damaging	Het
Catsperb	C	T	12: 101,624,735	Q1021*	probably null	Het
Ccdc62	A	G	5: 123,934,093	T62A	probably benign	Het
Cuzd1	A	G	7: 131,311,683	S402P	probably damaging	Het
Dcun1d1	C	T	3: 35,895,670	V244M	probably damaging	Het
Dennd2c	A	G	3: 103,131,661	T42A	probably benign	Het
Dnah7a	T	C	1: 53,521,226		probably null	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Homo
Dpp4	A	T	2: 62,348,549	F607L	probably benign	Het
Ech1	C	T	7: 28,830,338		probably null	Het
Fam53a	A	G	5: 33,607,840	L174P	probably damaging	Het
Fh1	T	C	1: 175,619,124	D62G	probably null	Het
Gm15448	T	A	7: 3,822,252	M464L	probably benign	Het
Hmgcll1	A	T	9: 76,081,449	T169S	probably benign	Het
Kbtbd3	A	T	9: 4,330,687	I354F	probably benign	Het
Kdm5b	T	C	1: 134,613,269	F700L	possibly damaging	Het
Mamdc4	C	A	2: 25,567,744	G439V	probably damaging	Het
Mrps30	A	T	13: 118,380,598	S362T	probably damaging	Het
Mug1	C	T	6: 121,838,724	S29L	possibly damaging	Het
Myh2	G	A	11: 67,178,348	D328N	probably damaging	Het
Olfr1106	T	C	2: 87,048,598	T213A	probably benign	Het
Olfr1404	C	A	1: 173,216,406	H252N	probably damaging	Het
Olfr1450	A	G	19: 12,954,459	Y290C	probably damaging	Het
Olfr969	T	A	9: 39,795,414	I13N	probably benign	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pus7l	G	A	15: 94,527,865	P552S	probably benign	Het
Rest	A	G	5: 77,280,997	K421R	probably damaging	Het
Rttn	C	A	18: 89,014,611	H668N	probably damaging	Het
Scn9a	T	C	2: 66,563,342	I228V	possibly damaging	Het
Scp2	G	T	4: 108,091,316	Q155K	probably damaging	Het
Sec61a2	G	A	2: 5,876,408	R18*	probably null	Het
Serpinb8	T	A	1: 107,597,591	M41K	probably damaging	Het
Sgsm2	A	T	11: 74,865,378	W382R	probably damaging	Het
Slc26a10	G	T	10: 127,173,661	T606N	possibly damaging	Het
Slc30a6	T	C	17: 74,404,032	I40T	possibly damaging	Het
Slfn5	G	A	11: 82,956,378	E30K	possibly damaging	Het
Sorcs2	C	A	5: 36,397,810	R79L	probably benign	Het
Tmc5	G	A	7: 118,669,304	S865N	probably damaging	Het
Tmprss11c	T	A	5: 86,289,260	M1L	possibly damaging	Het
Trpv5	C	G	6: 41,653,354	E601Q	probably damaging	Het
Ttc39b	A	T	4: 83,240,048		probably benign	Het
Ttll6	T	A	11: 96,138,863	C201S	probably damaging	Het
Vezt	A	G	10: 93,996,997	V204A	probably benign	Het
Vmn1r45	T	A	6: 89,934,003		probably benign	Het
Zfp433	A	T	10: 81,720,888	H408L	probably damaging	Het
Zfp865	T	C	7: 5,029,451	I145T	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
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
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'- TACTGAGAAGGAGGTACTTAAACAC -3'
(R):5'- ATGGACTAGGTAGACAGGCACC -3'

Sequencing Primer
(F):5'- GAGGTACTTAAACACAGGAGAGG -3'
(R):5'- CAAGGTCTTACTATGTAGCCAGGC -3'

Posted On

2018-07-23