Mutagenetix > Incidental Mutation

Incidental Mutation 'R6176:Gpatch8'

487778

Institutional Source

Beutler Lab

Gene Symbol

Gpatch8

Ensembl Gene

ENSMUSG00000034621

Gene Name

G patch domain containing 8

Synonyms

Fbm1, Gpatc8, ENSMUSG00000075516, 5430405G24Rik

MMRRC Submission

044318-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.596) question?

Stock #

R6176 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102366741-102447218 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 102378350 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 200 (A200V)

Ref Sequence

ENSEMBL: ENSMUSP00000120649 (fasta)

Gene Model

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

AlphaFold

A2A6A1

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000069673

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000117568

Predicted Effect

unknown
Transcript: ENSMUST00000143842
AA Change: A200V

SMART Domains

Protein: ENSMUSP00000120649
Gene: ENSMUSG00000034621
AA Change: A200V

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: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

97% (60/62)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akna	T	C	4: 63,295,969 (GRCm39)	Q966R	probably benign	Het
Amn	A	G	12: 111,240,590 (GRCm39)	D74G	possibly damaging	Het
Ank2	T	A	3: 126,739,120 (GRCm39)	T2255S	probably benign	Het
Ankfy1	G	A	11: 72,645,285 (GRCm39)	C788Y	probably benign	Het
Apaf1	A	G	10: 90,895,433 (GRCm39)		probably null	Het
Asl	T	A	5: 130,047,720 (GRCm39)	H82L	probably benign	Het
Atrn	A	G	2: 130,788,011 (GRCm39)	E271G	probably benign	Het
B4galnt3	A	G	6: 120,201,125 (GRCm39)	F184S	probably damaging	Het
C1s2	T	A	6: 124,602,768 (GRCm39)	H481L	probably damaging	Het
Cav2	A	G	6: 17,286,918 (GRCm39)	D58G	possibly damaging	Het
Cc2d2a	A	T	5: 43,866,455 (GRCm39)	H755L	probably benign	Het
Ccdc65	A	G	15: 98,606,433 (GRCm39)		probably null	Het
Celsr3	A	T	9: 108,705,554 (GRCm39)	Y679F	probably damaging	Het
Cep135	A	T	5: 76,772,490 (GRCm39)	Y625F	probably benign	Het
Cfhr1	A	G	1: 139,478,654 (GRCm39)	S58P	probably damaging	Het
Clip4	T	A	17: 72,113,628 (GRCm39)	C259*	probably null	Het
Cyp2j12	T	A	4: 96,029,074 (GRCm39)	Q69L	probably damaging	Het
Dock3	G	A	9: 106,790,147 (GRCm39)	T1484I	probably benign	Het
Ecscr	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	18: 35,849,813 (GRCm39)		probably benign	Het
Efcab3	A	T	11: 104,683,383 (GRCm39)	I1604F	probably benign	Het
Fam43b	T	C	4: 138,122,522 (GRCm39)	D266G	probably damaging	Het
Fbxl13	T	A	5: 21,705,498 (GRCm39)	I618F	possibly damaging	Het
Gne	C	T	4: 44,053,019 (GRCm39)		probably benign	Het
Gnpat	T	A	8: 125,605,593 (GRCm39)	V321E	probably damaging	Het
Grid1	C	A	14: 35,284,504 (GRCm39)	A749E	probably benign	Het
Grip2	C	T	6: 91,756,832 (GRCm39)	V540I	probably benign	Het
Ice2	C	T	9: 69,324,354 (GRCm39)	T759M	probably damaging	Het
Jrk	G	T	15: 74,578,189 (GRCm39)	N365K	possibly damaging	Het
Kank4	A	G	4: 98,653,791 (GRCm39)	I879T	probably damaging	Het
Krtap20-1	T	A	16: 88,812,288 (GRCm39)	Y24*	probably null	Het
Lao1	T	A	4: 118,819,197 (GRCm39)	M1K	probably null	Het
Mlf1	A	G	3: 67,291,927 (GRCm39)	R31G	probably damaging	Het
Nt5c3b	T	C	11: 100,330,974 (GRCm39)		probably benign	Het
Nusap1	A	G	2: 119,460,902 (GRCm39)	R132G	probably benign	Het
Or11g1	A	G	14: 50,651,847 (GRCm39)	Y282C	probably damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or5w20	G	A	2: 87,727,280 (GRCm39)	V254I	probably benign	Het
Or8d2b	A	C	9: 38,788,673 (GRCm39)	D67A	probably damaging	Het
Paqr9	G	T	9: 95,442,828 (GRCm39)	V273L	possibly damaging	Het
Pcdha9	A	T	18: 37,131,984 (GRCm39)	D351V	probably benign	Het
Pcdhga1	A	G	18: 37,797,282 (GRCm39)	D762G	probably benign	Het
Pde3a	T	A	6: 141,444,615 (GRCm39)	L1141Q	possibly damaging	Het
Pga5	T	A	19: 10,649,149 (GRCm39)		probably null	Het
Phldb3	C	A	7: 24,326,127 (GRCm39)	R570S	probably damaging	Het
Slc22a6	A	C	19: 8,599,161 (GRCm39)	E264A	probably damaging	Het
Slc49a4	C	T	16: 35,525,167 (GRCm39)	M426I	probably benign	Het
Slit1	T	C	19: 41,626,034 (GRCm39)	K576R	probably damaging	Het
Sox21	T	C	14: 118,473,040 (GRCm39)	K3R	possibly damaging	Het
Stk32c	A	T	7: 138,700,691 (GRCm39)	D297E	probably benign	Het
Suclg1	T	C	6: 73,252,326 (GRCm39)	V323A	probably damaging	Het
Tas1r2	T	G	4: 139,396,199 (GRCm39)	C513G	probably damaging	Het
Tbc1d23	A	G	16: 56,992,152 (GRCm39)	Y603H	probably damaging	Het
Tbc1d31	T	C	15: 57,816,192 (GRCm39)	V642A	probably damaging	Het
Tle2	A	T	10: 81,423,168 (GRCm39)	D486V	probably damaging	Het
Tmem232	A	G	17: 65,792,867 (GRCm39)	I110T	probably damaging	Het
Tmem39b	A	G	4: 129,586,894 (GRCm39)	Y106H	probably damaging	Het
Trpm4	T	G	7: 44,976,100 (GRCm39)	N229T	probably damaging	Het
Tspo	A	G	15: 83,458,007 (GRCm39)	T120A	probably benign	Het
Ttc28	G	A	5: 111,371,851 (GRCm39)	A767T	probably damaging	Het
Usp53	G	A	3: 122,727,652 (GRCm39)	Q977*	probably null	Het
Vmn1r215	T	A	13: 23,260,528 (GRCm39)	D189E	probably damaging	Het
Vmn2r12	T	C	5: 109,233,866 (GRCm39)	Y782C	probably benign	Het
Vmn2r54	A	G	7: 12,349,908 (GRCm39)	L558P	probably damaging	Het
Zfp268	T	A	4: 145,350,628 (GRCm39)	C688*	probably null	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
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'- GATAGACACCGGCCCAATTC -3'
(R):5'- TGTATTCCATGCCAGTGTTATGAC -3'

Sequencing Primer
(F):5'- AGCAGCCAGTGTTCATACTG -3'
(R):5'- CAGTGTTATGACATTGGTTCAGG -3'

Posted On

2017-10-10