Mutagenetix > Incidental Mutation

Incidental Mutation 'R8847:Gpatch8'

674774

Institutional Source

Beutler Lab

Gene Symbol

Gpatch8

Ensembl Gene

ENSMUSG00000034621

Gene Name

G patch domain containing 8

Synonyms

Fbm1, Gpatc8, ENSMUSG00000075516, 5430405G24Rik

MMRRC Submission

068735-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.570) question?

Stock #

R8847 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102366741-102447218 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102372010 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 509 (N509K)

Ref Sequence

ENSEMBL: ENSMUSP00000120649 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000143842]

AlphaFold

A2A6A1

Predicted Effect

unknown
Transcript: ENSMUST00000143842
AA Change: N509K

SMART Domains

Protein: ENSMUSP00000120649
Gene: ENSMUSG00000034621
AA Change: N509K

Domain	Start	End	E-Value	Type
G_patch	38	84	6.03e-12	SMART
coiled coil region	89	130	N/A	INTRINSIC
ZnF_C2H2	136	160	6.4e0	SMART
coiled coil region	183	209	N/A	INTRINSIC
low complexity region	224	234	N/A	INTRINSIC
low complexity region	235	246	N/A	INTRINSIC
internal_repeat_1	307	391	1.55e-5	PROSPERO
low complexity region	474	490	N/A	INTRINSIC
internal_repeat_1	583	658	1.55e-5	PROSPERO
low complexity region	666	687	N/A	INTRINSIC
low complexity region	691	720	N/A	INTRINSIC
low complexity region	722	753	N/A	INTRINSIC
low complexity region	761	772	N/A	INTRINSIC
low complexity region	798	820	N/A	INTRINSIC
low complexity region	829	885	N/A	INTRINSIC
low complexity region	887	980	N/A	INTRINSIC
low complexity region	988	1010	N/A	INTRINSIC
low complexity region	1166	1183	N/A	INTRINSIC
low complexity region	1208	1217	N/A	INTRINSIC
low complexity region	1326	1342	N/A	INTRINSIC
low complexity region	1345	1361	N/A	INTRINSIC
low complexity region	1379	1404	N/A	INTRINSIC
low complexity region	1438	1452	N/A	INTRINSIC
low complexity region	1463	1490	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (64/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains an RNA-processing domain, a zinc finger domain, a lysine-rich region and a serine-rich region. A mutation in the serine-rich region of the protein is thought to be associated with hyperuricemia (PMID: 21594610). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	G	C	8: 41,206,746 (GRCm39)	R4T	probably benign	Het
Alk	T	A	17: 72,256,820 (GRCm39)	I680F	probably benign	Het
Best3	A	G	10: 116,824,572 (GRCm39)	T13A	possibly damaging	Het
Ccdc7b	A	G	8: 129,872,082 (GRCm39)	D59G		Het
Cd300ld2	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	11: 114,903,257 (GRCm39)		probably benign	Het
Cic	G	A	7: 24,970,631 (GRCm39)	V121M	probably damaging	Het
Clasp1	C	G	1: 118,506,705 (GRCm39)	P1280R	probably damaging	Het
Col6a5	A	T	9: 105,741,472 (GRCm39)	N2482K	possibly damaging	Het
Crebbp	A	G	16: 3,902,891 (GRCm39)	M2116T	probably benign	Het
Ddn	T	C	15: 98,704,794 (GRCm39)	E166G	possibly damaging	Het
Dennd6a	C	T	14: 26,327,086 (GRCm39)	T249I	probably benign	Het
Diaph1	A	T	18: 37,987,590 (GRCm39)	D1055E	possibly damaging	Het
Dnajc13	C	A	9: 104,057,360 (GRCm39)	G1547*	probably null	Het
Dvl1	C	T	4: 155,942,611 (GRCm39)	R626C	possibly damaging	Het
Fer1l6	A	C	15: 58,414,012 (GRCm39)	K13Q	possibly damaging	Het
Fry	G	A	5: 150,309,472 (GRCm39)	E639K		Het
Gm6408	G	T	5: 146,420,602 (GRCm39)	V161L	probably benign	Het
Hycc2	G	T	1: 58,595,713 (GRCm39)	P55Q	probably damaging	Het
Ints13	T	C	6: 146,457,631 (GRCm39)	T416A	probably benign	Het
Iqcf6	A	T	9: 106,504,650 (GRCm39)	M105L	probably damaging	Het
Magi3	C	A	3: 103,922,334 (GRCm39)	R1461L	probably benign	Het
Map3k8	A	T	18: 4,333,889 (GRCm39)	L401Q		Het
Miga2	G	T	2: 30,273,990 (GRCm39)	R542L	probably damaging	Het
Mphosph9	A	T	5: 124,454,209 (GRCm39)	V96E	possibly damaging	Het
Nek5	T	C	8: 22,613,595 (GRCm39)	S28G	probably benign	Het
Niban1	A	G	1: 151,575,929 (GRCm39)	E351G	probably damaging	Het
Notch4	A	G	17: 34,803,962 (GRCm39)		probably benign	Het
Npc1	A	G	18: 12,323,987 (GRCm39)	L1275P	probably damaging	Het
Nphp4	C	T	4: 152,590,863 (GRCm39)	R287C	probably damaging	Het
Or10ak11	T	C	4: 118,686,821 (GRCm39)	D271G	probably damaging	Het
Or13a20	G	C	7: 140,232,326 (GRCm39)	A145P	possibly damaging	Het
Or1j13	G	A	2: 36,369,483 (GRCm39)	R220*	probably null	Het
Or1p1c	C	T	11: 74,160,443 (GRCm39)	T76I	probably damaging	Het
Parn	A	T	16: 13,446,270 (GRCm39)	L343*	probably null	Het
Pax5	T	A	4: 44,691,865 (GRCm39)	D127V	probably benign	Het
Peak1	C	A	9: 56,114,427 (GRCm39)	D1505Y	probably damaging	Het
Perm1	C	T	4: 156,302,068 (GRCm39)	T204I	probably benign	Het
Pid1	A	T	1: 84,093,694 (GRCm39)	S65T	unknown	Het
Pkn2	A	G	3: 142,526,401 (GRCm39)	V392A	probably benign	Het
Plekhh2	A	G	17: 84,878,479 (GRCm39)	D578G	probably benign	Het
Ppp4r4	T	A	12: 103,562,747 (GRCm39)	L572Q	probably damaging	Het
Pum3	G	A	19: 27,398,713 (GRCm39)	T279M	probably damaging	Het
Rasa2	A	G	9: 96,458,402 (GRCm39)	V266A	possibly damaging	Het
Sirpb1c	C	T	3: 15,886,584 (GRCm39)	W264*	probably null	Het
Slc35g3	A	T	11: 69,651,399 (GRCm39)	Y195*	probably null	Het
Slk	T	A	19: 47,607,632 (GRCm39)	H289Q		Het
Spef2	T	C	15: 9,668,913 (GRCm39)	S758G	probably benign	Het
Spon2	C	T	5: 33,371,841 (GRCm39)	A322T	probably benign	Het
Spred2	T	C	11: 19,951,064 (GRCm39)	L87P	probably benign	Het
Stk10	A	G	11: 32,539,427 (GRCm39)	D269G		Het
Tex48	T	A	4: 63,530,772 (GRCm39)		probably benign	Het
Themis2	T	A	4: 132,513,509 (GRCm39)	H239L	probably damaging	Het
Tle4	T	A	19: 14,493,737 (GRCm39)	R199*	probably null	Het
Tlr11	C	T	14: 50,600,182 (GRCm39)	H723Y	possibly damaging	Het
Trdj2	T	A	14: 54,374,237 (GRCm39)	S1T		Het
Vdac1	T	G	11: 52,267,230 (GRCm39)	S44A		Het
Vill	C	T	9: 118,897,514 (GRCm39)	T647I	probably damaging	Het
Vmn1r61	A	G	7: 5,613,817 (GRCm39)	C166R	probably damaging	Het
Vmn2r114	T	A	17: 23,528,986 (GRCm39)	N372I	probably damaging	Het
Vmn2r120	T	A	17: 57,816,217 (GRCm39)	M713L	probably benign	Het
Vmn2r61	T	C	7: 41,950,010 (GRCm39)	V810A	probably damaging	Het
Vmn2r65	A	T	7: 84,590,212 (GRCm39)	L568Q	probably damaging	Het
Wdr7	T	C	18: 63,872,293 (GRCm39)	V409A	probably damaging	Het
Ylpm1	C	A	12: 85,061,672 (GRCm39)	N524K	unknown	Het
Zfp958	A	C	8: 4,678,434 (GRCm39)	H153P	probably damaging	Het

Other mutations in Gpatch8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00577:Gpatch8	APN	11	102,369,704 (GRCm39)	missense	probably damaging	1.00
IGL00590:Gpatch8	APN	11	102,371,375 (GRCm39)	missense	unknown
IGL00835:Gpatch8	APN	11	102,369,375 (GRCm39)	missense	probably damaging	1.00
IGL00971:Gpatch8	APN	11	102,370,743 (GRCm39)	missense	unknown
IGL01395:Gpatch8	APN	11	102,371,534 (GRCm39)	missense	unknown
IGL02386:Gpatch8	APN	11	102,398,983 (GRCm39)	missense	unknown
IGL02476:Gpatch8	APN	11	102,369,417 (GRCm39)	missense	probably damaging	1.00
IGL02809:Gpatch8	APN	11	102,378,416 (GRCm39)	missense	unknown
IGL02985:Gpatch8	APN	11	102,372,336 (GRCm39)	missense	unknown
IGL03013:Gpatch8	APN	11	102,399,023 (GRCm39)	missense	unknown
PIT4810001:Gpatch8	UTSW	11	102,372,668 (GRCm39)	missense	unknown
R0332:Gpatch8	UTSW	11	102,372,668 (GRCm39)	missense	unknown
R0464:Gpatch8	UTSW	11	102,371,712 (GRCm39)	missense	unknown
R0710:Gpatch8	UTSW	11	102,372,759 (GRCm39)	missense	unknown
R0734:Gpatch8	UTSW	11	102,372,226 (GRCm39)	missense	unknown
R1458:Gpatch8	UTSW	11	102,372,055 (GRCm39)	missense	unknown
R1919:Gpatch8	UTSW	11	102,398,968 (GRCm39)	critical splice donor site	probably null
R2007:Gpatch8	UTSW	11	102,391,657 (GRCm39)	missense	unknown
R2495:Gpatch8	UTSW	11	102,369,307 (GRCm39)	missense	probably damaging	1.00
R2881:Gpatch8	UTSW	11	102,370,743 (GRCm39)	missense	unknown
R2939:Gpatch8	UTSW	11	102,399,010 (GRCm39)	missense	unknown
R4672:Gpatch8	UTSW	11	102,369,784 (GRCm39)	missense	probably damaging	1.00
R4903:Gpatch8	UTSW	11	102,370,959 (GRCm39)	missense	unknown
R4931:Gpatch8	UTSW	11	102,372,050 (GRCm39)	missense	unknown
R5230:Gpatch8	UTSW	11	102,370,404 (GRCm39)	missense	probably damaging	1.00
R5288:Gpatch8	UTSW	11	102,399,053 (GRCm39)	splice site	probably null
R5384:Gpatch8	UTSW	11	102,399,053 (GRCm39)	splice site	probably null
R5386:Gpatch8	UTSW	11	102,399,053 (GRCm39)	splice site	probably null
R5564:Gpatch8	UTSW	11	102,429,111 (GRCm39)	missense	unknown
R5668:Gpatch8	UTSW	11	102,391,693 (GRCm39)	missense	unknown
R5954:Gpatch8	UTSW	11	102,371,767 (GRCm39)	missense	unknown
R5966:Gpatch8	UTSW	11	102,371,058 (GRCm39)	missense	unknown
R6018:Gpatch8	UTSW	11	102,371,741 (GRCm39)	missense	unknown
R6176:Gpatch8	UTSW	11	102,378,350 (GRCm39)	missense	unknown
R6388:Gpatch8	UTSW	11	102,369,314 (GRCm39)	missense	probably damaging	1.00
R7153:Gpatch8	UTSW	11	102,371,014 (GRCm39)	small insertion	probably benign
R7155:Gpatch8	UTSW	11	102,371,014 (GRCm39)	small insertion	probably benign
R7163:Gpatch8	UTSW	11	102,371,014 (GRCm39)	small insertion	probably benign
R7238:Gpatch8	UTSW	11	102,369,354 (GRCm39)	missense	probably damaging	1.00
R7407:Gpatch8	UTSW	11	102,370,656 (GRCm39)	missense	unknown
R7825:Gpatch8	UTSW	11	102,372,268 (GRCm39)	missense	unknown
R8205:Gpatch8	UTSW	11	102,371,213 (GRCm39)	missense	unknown
R8241:Gpatch8	UTSW	11	102,378,347 (GRCm39)	missense	unknown
R8805:Gpatch8	UTSW	11	102,371,018 (GRCm39)	missense	unknown
R9156:Gpatch8	UTSW	11	102,370,299 (GRCm39)	missense	probably benign	0.22
Z1088:Gpatch8	UTSW	11	102,371,771 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGCCTGCGACATCTTTTGG -3'
(R):5'- CTGTAGTAAGACAGCAGCAAGC -3'

Sequencing Primer
(F):5'- GCTTTAGCATCTTTGTTTCTTGAAAG -3'
(R):5'- CCCAGGGGCAGAAAGAAC -3'

Posted On

2021-07-15