Mutagenetix > Incidental Mutation

Incidental Mutation 'R7662:Gpatch11'

591673

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 #

R7662 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78835516-78848299 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 78839055 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 43 (Q43P)

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: Q43P

PolyPhen 2 Score 0.443 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000126814
Gene: ENSMUSG00000050668
AA Change: Q43P

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: 99.4%

Validation Efficiency

100% (82/82)

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930504O13Rik	T	C	11: 58,447,443	N41S	probably benign	Het
4930563M21Rik	G	A	9: 55,978,715	S48L	probably benign	Het
5830411N06Rik	T	C	7: 140,294,812	V401A	possibly damaging	Het
Abi3bp	A	G	16: 56,617,323		probably null	Het
Adssl1	T	A	12: 112,639,738	V456E	probably damaging	Het
Aimp1	A	T	3: 132,674,066	V105E	probably benign	Het
Ankrd6	G	A	4: 32,818,694	R270C	probably damaging	Het
Arid5b	C	T	10: 68,098,587	G495E	probably benign	Het
Armh1	C	A	4: 117,213,741	A396S	probably benign	Het
Asb15	T	A	6: 24,566,090	D347E	probably benign	Het
Axin2	T	A	11: 108,942,456	L489Q	possibly damaging	Het
Baiap2l1	G	A	5: 144,357,890		probably benign	Het
BC003331	T	C	1: 150,382,294	S197G	probably benign	Het
Cdc6	T	A	11: 98,910,612	N194K	possibly damaging	Het
Cdc6	T	C	11: 98,917,010	L443P	probably benign	Het
Celf2	C	A	2: 6,553,917	G393C	probably damaging	Het
Cep290	T	A	10: 100,537,803	M1315K	probably benign	Het
Cntn5	A	T	9: 9,661,385	M887K	probably benign	Het
Col17a1	T	C	19: 47,681,501	I71V	probably benign	Het
Crot	T	C	5: 8,969,072	M494V	probably damaging	Het
Ctnna2	A	T	6: 77,636,869	V246D	probably damaging	Het
Cyb5r4	A	G	9: 87,027,038	E56G	possibly damaging	Het
Dennd2a	A	G	6: 39,493,103	Y552H	probably benign	Het
Dennd4a	A	G	9: 64,852,431	I273V	probably damaging	Het
Dkk2	A	G	3: 132,177,868		probably null	Het
Dnaja2	A	C	8: 85,539,276	D393E	probably benign	Het
Dscc1	T	A	15: 55,076,165	I461F	possibly damaging	Het
Dspp	A	T	5: 104,177,870	S700C	unknown	Het
Ect2	T	A	3: 27,131,798	H512L	probably damaging	Het
Eif1b	A	G	9: 120,494,211	T46A	possibly damaging	Het
Fam114a2	A	T	11: 57,507,565	D182E	probably damaging	Het
Fez1	C	A	9: 36,870,500	P347H	probably damaging	Het
Fgd5	G	A	6: 92,049,931		probably null	Het
Flad1	T	A	3: 89,403,451	I430F	probably damaging	Het
Gal3st2b	T	C	1: 93,940,892	Y282H	probably damaging	Het
Gm29106	T	A	1: 118,199,407	N276K	possibly damaging	Het
Gm36176	C	A	10: 77,846,852	S16Y	unknown	Het
Gm5624	T	C	14: 44,561,933	R56G	possibly damaging	Het
Gtpbp2	A	G	17: 46,166,435	T409A	probably benign	Het
Hmcn2	T	C	2: 31,382,345	I1279T	probably benign	Het
Ick	G	C	9: 78,167,620	V586L	probably benign	Het
Itih3	T	A	14: 30,917,330	N429Y	probably benign	Het
Lrp5	A	G	19: 3,686,353		probably null	Het
Lrrc34	T	A	3: 30,643,303	Y93F	probably benign	Het
Malrd1	T	A	2: 15,871,454	V1404D	unknown	Het
Med1	T	C	11: 98,155,392	N1526S	unknown	Het
Myt1l	A	G	12: 29,826,869	D173G	unknown	Het
Nckap1l	A	T	15: 103,462,585	H197L	probably damaging	Het
Nipa1	T	C	7: 55,979,624	E247G	probably damaging	Het
Nmrk1	A	T	19: 18,642,178	R132*	probably null	Het
Nrap	G	T	19: 56,320,283	A1700E	probably benign	Het
Olfr1340	T	A	4: 118,726,307	F20Y	probably damaging	Het
Olfr951	A	T	9: 39,394,093	M98L	probably benign	Het
Padi6	T	C	4: 140,728,995	T563A	probably benign	Het
Pcdhb19	G	A	18: 37,498,735	E528K	probably damaging	Het
Pcnt	T	C	10: 76,387,522	D1942G	probably benign	Het
Pcnx2	C	T	8: 125,818,771	W1167*	probably null	Het
Pkp3	C	T	7: 141,078,379	T19I	probably benign	Het
Plekhg5	T	C	4: 152,104,298	L199P	probably damaging	Het
Rasal1	A	G	5: 120,662,184	T171A	probably benign	Het
Rgsl1	T	C	1: 153,825,479	I410V	probably benign	Het
Sftpa1	C	A	14: 41,134,212	N171K	probably damaging	Het
Slc5a9	A	T	4: 111,877,540	*686R	probably null	Het
Smap1	A	T	1: 23,877,774	N91K	probably damaging	Het
Tenm3	A	G	8: 48,335,727	S695P	probably benign	Het
Thoc3	A	T	13: 54,463,804	H223Q	probably damaging	Het
Tmco4	T	C	4: 139,010,561	F156L	probably benign	Het
Tmem30a	C	T	9: 79,775,231	V188I	probably benign	Het
Trim27	T	A	13: 21,192,158	C359S	probably benign	Het
Trrap	A	G	5: 144,832,511	T2609A	probably benign	Het
Ttn	A	G	2: 76,862,400	V446A		Het
Vat1l	T	A	8: 114,282,344	Y273N	probably damaging	Het
Vmn1r129	T	A	7: 21,360,627	H222L	possibly damaging	Het
Vmn2r19	A	G	6: 123,331,562	T533A	probably benign	Het
Vmn2r77	T	A	7: 86,811,284	L606*	probably null	Het
Vmn2r93	G	T	17: 18,305,369	V430L	probably benign	Het
Vps50	T	A	6: 3,562,304	N466K	probably damaging	Het
Zfp507	A	T	7: 35,787,804	Y746*	probably null	Het
Zfp521	A	C	18: 13,844,116	L1080R	probably damaging	Het
Zfp74	A	G	7: 29,953,853		probably null	Het
Zfp831	G	A	2: 174,646,141	A870T	possibly damaging	Het
Zfp936	A	T	7: 43,189,912	K268*	probably null	Het
Zhx2	C	A	15: 57,822,176	R314S	probably damaging	Het
Zkscan16	A	T	4: 58,957,679	K654*	probably null	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
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'- GCTCCTCTCTGTGTGGAATC -3'
(R):5'- GTACCAAGTCAGCTCTGCAC -3'

Sequencing Primer
(F):5'- GTGTGGAATCTTATTCTCCTGTCCAG -3'
(R):5'- GTCAGCTCTGCACACGACTC -3'

Posted On

2019-11-12