Mutagenetix > Incidental Mutation

Incidental Mutation 'R1458:Gpatch8'

161900

Institutional Source

Beutler Lab

Gene Symbol

Gpatch8

Ensembl Gene

ENSMUSG00000034621

Gene Name

G patch domain containing 8

Synonyms

Fbm1, Gpatc8, ENSMUSG00000075516, 5430405G24Rik

MMRRC Submission

039513-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.596) question?

Stock #

R1458 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102366741-102447218 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102372055 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 494 (S494R)

Ref Sequence

ENSEMBL: ENSMUSP00000120649 (fasta)

Gene Model

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

AlphaFold

A2A6A1

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000069673

Predicted Effect

unknown
Transcript: ENSMUST00000143842
AA Change: S494R

SMART Domains

Protein: ENSMUSP00000120649
Gene: ENSMUSG00000034621
AA Change: S494R

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

Meta Mutation Damage Score

0.0617

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.8%

Validation Efficiency

98% (95/97)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700036A12Rik	A	G	9: 60,677,043 (GRCm39)		noncoding transcript	Het
A430110L20Rik	T	A	1: 181,055,423 (GRCm39)		noncoding transcript	Het
Abce1	T	C	8: 80,433,864 (GRCm39)	K63R	possibly damaging	Het
Acp6	A	G	3: 97,081,104 (GRCm39)		probably benign	Het
Adamts13	T	A	2: 26,878,366 (GRCm39)	L579Q	probably damaging	Het
Adamtsl3	T	A	7: 82,172,528 (GRCm39)	M497K	probably damaging	Het
Adgrb2	T	A	4: 129,908,384 (GRCm39)	M1042K	possibly damaging	Het
Akap12	A	T	10: 4,303,693 (GRCm39)	S168C	probably damaging	Het
Akap3	A	T	6: 126,842,517 (GRCm39)	M379L	probably damaging	Het
Aldh6a1	C	T	12: 84,486,437 (GRCm39)	M135I	probably null	Het
Arhgef12	A	G	9: 42,900,294 (GRCm39)	S860P	probably damaging	Het
Atp11b	A	C	3: 35,843,707 (GRCm39)	T185P	probably damaging	Het
Bcas1	T	C	2: 170,229,871 (GRCm39)	D243G	probably damaging	Het
Cdhr2	T	A	13: 54,865,685 (GRCm39)	S228T	probably damaging	Het
Cic	T	C	7: 24,979,162 (GRCm39)		probably benign	Het
Cimap1d	A	T	10: 79,481,392 (GRCm39)		probably benign	Het
Cmya5	T	A	13: 93,201,835 (GRCm39)	I3376L	probably benign	Het
Ctrc	C	A	4: 141,573,535 (GRCm39)		probably null	Het
Dchs1	G	T	7: 105,404,451 (GRCm39)	P2697Q	probably damaging	Het
Dmbt1	A	G	7: 130,646,217 (GRCm39)		probably benign	Het
Drd2	G	A	9: 49,313,512 (GRCm39)	R227H	probably damaging	Het
Dscc1	C	A	15: 54,950,160 (GRCm39)	C195F	probably damaging	Het
Dzip1	T	A	14: 119,160,125 (GRCm39)	M28L	probably benign	Het
Edar	A	T	10: 58,443,188 (GRCm39)	S313T	probably benign	Het
Eef1e1	C	A	13: 38,840,099 (GRCm39)	A69S	probably damaging	Het
Fbn1	A	G	2: 125,143,849 (GRCm39)	V2760A	probably benign	Het
Fez1	GACAAACA	GACA	9: 36,781,845 (GRCm39)		probably null	Het
Fgl1	C	G	8: 41,663,496 (GRCm39)	A11P	possibly damaging	Het
Fras1	T	C	5: 96,748,592 (GRCm39)	V689A	probably benign	Het
Fry	T	A	5: 150,304,324 (GRCm39)	D571E	probably damaging	Het
Gm11232	T	A	4: 71,675,450 (GRCm39)	R104*	probably null	Het
Gm1527	A	G	3: 28,972,199 (GRCm39)	I439V	possibly damaging	Het
Gm4922	C	A	10: 18,659,640 (GRCm39)	G361*	probably null	Het
Gm7052	T	A	17: 22,259,447 (GRCm39)		probably benign	Het
Gria2	A	T	3: 80,639,352 (GRCm39)	V220E	possibly damaging	Het
Grik4	G	A	9: 42,432,418 (GRCm39)	H860Y	probably benign	Het
Gtpbp1	A	C	15: 79,591,930 (GRCm39)	S93R	probably damaging	Het
Gucy2g	C	A	19: 55,203,468 (GRCm39)		probably benign	Het
H2ac8	C	A	13: 23,755,221 (GRCm39)		probably benign	Het
Hmcn1	G	A	1: 150,485,451 (GRCm39)	R4384C	probably damaging	Het
Hspa12b	G	C	2: 130,987,112 (GRCm39)	A678P	probably damaging	Het
Igsf21	T	A	4: 139,755,435 (GRCm39)	N407Y	probably damaging	Het
Insig2	A	G	1: 121,234,885 (GRCm39)	Y174H	probably benign	Het
Itpr3	T	A	17: 27,337,346 (GRCm39)	M2413K	probably benign	Het
Kalrn	A	T	16: 33,994,857 (GRCm39)	I1322N	probably damaging	Het
Klk1b24	T	A	7: 43,840,890 (GRCm39)	M106K	possibly damaging	Het
Krt81	G	T	15: 101,358,198 (GRCm39)	Q352K	probably benign	Het
Lca5l	A	T	16: 95,961,059 (GRCm39)	S468T	possibly damaging	Het
Lvrn	T	C	18: 47,015,452 (GRCm39)		probably benign	Het
Mcpt1	T	A	14: 56,256,621 (GRCm39)		probably benign	Het
Med13l	T	C	5: 118,876,524 (GRCm39)	M900T	probably benign	Het
Med16	A	G	10: 79,743,312 (GRCm39)		probably benign	Het
Megf6	G	T	4: 154,261,578 (GRCm39)	V68L	probably benign	Het
Mep1a	T	C	17: 43,802,563 (GRCm39)	H154R	probably damaging	Het
Mrc2	A	T	11: 105,228,598 (GRCm39)	D659V	probably benign	Het
Mroh8	T	A	2: 157,063,224 (GRCm39)	E799V	probably damaging	Het
Mrpl21	A	G	19: 3,334,808 (GRCm39)	Y50C	possibly damaging	Het
Msl1	A	G	11: 98,694,808 (GRCm39)		probably benign	Het
Myo1a	C	A	10: 127,555,806 (GRCm39)	Q932K	probably benign	Het
Nav3	A	C	10: 109,555,905 (GRCm39)	S1675R	probably damaging	Het
Neurl2	A	G	2: 164,674,666 (GRCm39)	V232A	possibly damaging	Het
Nfatc1	T	A	18: 80,708,482 (GRCm39)		probably benign	Het
Or2w4	C	T	13: 21,795,992 (GRCm39)	C49Y	probably benign	Het
Or5k8	T	A	16: 58,645,039 (GRCm39)	E11V	probably null	Het
P4hb	A	G	11: 120,453,381 (GRCm39)		probably benign	Het
Papss1	T	G	3: 131,311,615 (GRCm39)	I281S	probably damaging	Het
Pde10a	A	T	17: 9,183,540 (GRCm39)	D832V	probably damaging	Het
Pfkfb2	A	T	1: 130,635,927 (GRCm39)	Y35N	possibly damaging	Het
Phaf1	T	C	8: 105,973,188 (GRCm39)		probably null	Het
Phf20l1	T	A	15: 66,476,662 (GRCm39)	F253Y	probably damaging	Het
Pkhd1l1	G	A	15: 44,379,511 (GRCm39)	V1046I	probably benign	Het
Plin3	C	T	17: 56,591,337 (GRCm39)	A148T	probably benign	Het
Ppp1r8	T	C	4: 132,567,942 (GRCm39)		probably benign	Het
Ppp2r3d	A	G	9: 101,088,511 (GRCm39)	L604P	probably damaging	Het
Prdm5	T	C	6: 65,860,585 (GRCm39)	V239A	probably damaging	Het
Prickle1	A	G	15: 93,398,519 (GRCm39)	S770P	probably damaging	Het
Prl2c5	T	A	13: 13,365,310 (GRCm39)	I155N	probably benign	Het
Prom1	T	C	5: 44,190,274 (GRCm39)		probably benign	Het
Psg25	C	T	7: 18,263,512 (GRCm39)	G104R	probably damaging	Het
Rbm19	T	C	5: 120,282,094 (GRCm39)	V817A	probably benign	Het
Ryr2	T	A	13: 11,741,908 (GRCm39)	Y2091F	probably damaging	Het
Slc16a4	A	G	3: 107,208,248 (GRCm39)	T253A	probably benign	Het
Smg7	A	T	1: 152,731,594 (GRCm39)		probably null	Het
Spink5	C	A	18: 44,140,786 (GRCm39)	H662N	probably benign	Het
Taf2	A	T	15: 54,923,311 (GRCm39)	M322K	probably damaging	Het
Tmc2	T	C	2: 130,090,682 (GRCm39)	F676S	probably damaging	Het
Tmem177	A	G	1: 119,837,915 (GRCm39)	S255P	possibly damaging	Het
Trim46	A	T	3: 89,142,375 (GRCm39)		probably null	Het
Tubb1	T	A	2: 174,292,596 (GRCm39)		probably null	Het
Upf1	T	C	8: 70,796,904 (GRCm39)	T110A	probably benign	Het
Vmn2r9	T	A	5: 108,996,850 (GRCm39)	I140L	probably benign	Het
Zfp638	T	A	6: 83,921,638 (GRCm39)	H588Q	probably damaging	Het
Zfp780b	T	A	7: 27,664,252 (GRCm39)	N101I	probably damaging	Het
Zpld2	T	C	4: 133,924,144 (GRCm39)	D467G	probably benign	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
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
R8847:Gpatch8	UTSW	11	102,372,010 (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'- AGGAGCCTGCGACATCTTTTGG -3'
(R):5'- CTGTAGTAAGACAGCAGCAAGCCC -3'

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

Posted On

2014-03-14