Mutagenetix > Incidental Mutation

Incidental Mutation 'R5668:Gpatch8'

442460

Institutional Source

Beutler Lab

Gene Symbol

Gpatch8

Ensembl Gene

ENSMUSG00000034621

Gene Name

G patch domain containing 8

Synonyms

Fbm1, Gpatc8, ENSMUSG00000075516, 5430405G24Rik

MMRRC Submission

043311-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.596) question?

Stock #

R5668 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102366741-102447218 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102391693 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 143 (K143R)

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: K143R

SMART Domains

Protein: ENSMUSP00000120649
Gene: ENSMUSG00000034621
AA Change: K143R

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

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

99% (84/85)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	A	G	7: 28,603,975 (GRCm39)	W429R	probably damaging	Het
Afg1l	C	T	10: 42,236,236 (GRCm39)	C272Y	probably damaging	Het
Agrn	T	C	4: 156,251,770 (GRCm39)	T1831A	probably damaging	Het
Aifm2	T	C	10: 61,561,696 (GRCm39)	V14A	probably damaging	Het
Angptl3	A	T	4: 98,920,321 (GRCm39)		probably null	Het
Arfgap1	A	T	2: 180,615,912 (GRCm39)	D197V	possibly damaging	Het
Atp1a3	T	C	7: 24,678,294 (GRCm39)		probably benign	Het
Brwd1	T	C	16: 95,817,350 (GRCm39)	I1387M	probably damaging	Het
Cavin4	A	G	4: 48,672,499 (GRCm39)	T315A	probably benign	Het
Cep128	T	C	12: 90,966,410 (GRCm39)	T1066A	probably benign	Het
Cln3	T	C	7: 126,171,558 (GRCm39)	T376A	probably benign	Het
Cntn4	A	T	6: 106,656,397 (GRCm39)		silent	Het
Colec12	T	A	18: 9,848,963 (GRCm39)	D380E	probably damaging	Het
Csmd3	T	C	15: 47,559,151 (GRCm39)	I2371V	possibly damaging	Het
Cspg4b	A	G	13: 113,453,701 (GRCm39)	S55G	possibly damaging	Het
Cxcl3	T	C	5: 90,935,299 (GRCm39)	S99P	unknown	Het
Ddx60	A	G	8: 62,453,612 (GRCm39)	R1244G	probably benign	Het
Dhx38	T	C	8: 110,280,048 (GRCm39)	D914G	probably damaging	Het
Dlc1	T	G	8: 37,404,655 (GRCm39)		probably benign	Het
Eif4a3l1	A	T	6: 136,306,393 (GRCm39)	I264F	probably benign	Het
Fam161b	A	G	12: 84,403,124 (GRCm39)	S169P	probably damaging	Het
Fastkd1	A	G	2: 69,537,725 (GRCm39)	S286P	possibly damaging	Het
Fmn2	A	T	1: 174,409,603 (GRCm39)	E612V	unknown	Het
Foxb1	T	A	9: 69,667,528 (GRCm39)	M1L	probably damaging	Het
Gm14412	A	T	2: 177,007,402 (GRCm39)	C164*	probably null	Het
Gm43302	T	A	5: 105,423,678 (GRCm39)	M432L	probably benign	Het
Gm4353	C	A	7: 115,682,913 (GRCm39)	A223S	probably damaging	Het
Gpr15	A	G	16: 58,538,013 (GRCm39)	S359P	probably damaging	Het
Gucy2e	A	G	11: 69,119,207 (GRCm39)	L649P	probably damaging	Het
H2-M10.5	C	A	17: 37,085,473 (GRCm39)	H211N	probably damaging	Het
Hs6st1	T	C	1: 36,142,970 (GRCm39)	Y302H	probably damaging	Het
Khdrbs2	A	T	1: 32,506,851 (GRCm39)	D165V	probably damaging	Het
Klra13-ps	T	G	6: 130,281,246 (GRCm39)		noncoding transcript	Het
Lrrc37	T	A	11: 103,507,880 (GRCm39)		probably benign	Het
Lrrc37a	T	A	11: 103,391,001 (GRCm39)	T1475S	probably benign	Het
Ly75	A	G	2: 60,184,844 (GRCm39)	S437P	probably damaging	Het
Maz	C	T	7: 126,624,494 (GRCm39)	C342Y	probably damaging	Het
Mcf2l	C	A	8: 13,063,812 (GRCm39)	S1008*	probably null	Het
Mcmbp	T	C	7: 128,314,478 (GRCm39)	D246G	probably benign	Het
Mipol1	G	A	12: 57,372,346 (GRCm39)	R135H	possibly damaging	Het
Mycbp2	T	A	14: 103,357,955 (GRCm39)	Y4613F	possibly damaging	Het
Nup188	G	A	2: 30,226,336 (GRCm39)	A1118T	probably damaging	Het
Or10g6	A	T	9: 39,933,964 (GRCm39)	I92F	probably damaging	Het
Or2k2	T	A	4: 58,785,489 (GRCm39)	I78F	probably benign	Het
Or4a76	G	A	2: 89,460,688 (GRCm39)	L185F	probably damaging	Het
Or4c121	A	T	2: 89,024,170 (GRCm39)	D69E	possibly damaging	Het
Or4z4	A	G	19: 12,076,290 (GRCm39)	S238P	probably damaging	Het
Or51f1e	A	T	7: 102,747,103 (GRCm39)	S52C	probably benign	Het
Or51h7	T	C	7: 102,591,128 (GRCm39)	K219E	probably benign	Het
P3h1	T	A	4: 119,101,243 (GRCm39)	I460N	possibly damaging	Het
Pcnt	T	C	10: 76,245,334 (GRCm39)	D1101G	probably benign	Het
Phlpp2	C	A	8: 110,655,205 (GRCm39)	Q667K	possibly damaging	Het
Plec	A	G	15: 76,074,666 (GRCm39)	F434L	possibly damaging	Het
Ppp6r2	T	A	15: 89,164,602 (GRCm39)	I602N	probably damaging	Het
Rdh8	A	C	9: 20,736,475 (GRCm39)	I181L	probably benign	Het
Rnf181	A	G	6: 72,338,505 (GRCm39)	M1T	probably null	Het
Rpl29-ps2	A	G	13: 4,664,221 (GRCm39)		noncoding transcript	Het
Sart3	A	G	5: 113,883,217 (GRCm39)		probably null	Het
Sec14l2	A	C	11: 4,059,189 (GRCm39)	L160R	probably damaging	Het
Senp1	C	T	15: 97,946,236 (GRCm39)	R503H	probably damaging	Het
Shoc1	A	G	4: 59,047,399 (GRCm39)	S1407P	probably benign	Het
Slc22a2	T	C	17: 12,827,296 (GRCm39)	V316A	probably benign	Het
Slc34a1	A	T	13: 55,556,898 (GRCm39)	I365F	possibly damaging	Het
Spag5	T	C	11: 78,195,542 (GRCm39)	V283A	possibly damaging	Het
Srebf2	C	T	15: 82,076,456 (GRCm39)	T702I	probably benign	Het
Sun3	A	G	11: 8,981,433 (GRCm39)		probably null	Het
Syt6	A	G	3: 103,528,217 (GRCm39)	Y312C	probably damaging	Het
Tas2r121	T	A	6: 132,677,756 (GRCm39)	Y72F	possibly damaging	Het
Tfrc	A	G	16: 32,442,194 (GRCm39)	Y473C	probably damaging	Het
Trp63	C	T	16: 25,684,935 (GRCm39)	A274V	possibly damaging	Het
Trpm5	T	C	7: 142,626,966 (GRCm39)	D1085G	probably benign	Het
Ttn	A	G	2: 76,745,008 (GRCm39)	V5347A	probably benign	Het
Uqcc4	G	A	17: 25,403,963 (GRCm39)	S101N	probably damaging	Het
Vma21-ps	T	A	4: 52,496,946 (GRCm39)	Q100L	possibly damaging	Het
Vmn2r22	T	C	6: 123,614,873 (GRCm39)	N239S	probably benign	Het
Wfdc8	T	C	2: 164,439,339 (GRCm39)		probably benign	Het
Xkr4	T	A	1: 3,741,258 (GRCm39)	Y105F	probably damaging	Het
Xpo7	C	T	14: 70,920,286 (GRCm39)	V627I	possibly damaging	Het
Zfp606	T	C	7: 12,226,479 (GRCm39)	V200A	probably benign	Het
Zfp936	A	T	7: 42,839,858 (GRCm39)	S441C	possibly 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
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'- GTTAGGAAAGCTCCCATGGG -3'
(R):5'- AATTGTTACCCTACCAGATTTCGC -3'

Sequencing Primer
(F):5'- GAAGCCAGTCACACTCATA -3'
(R):5'- ACTGGTGCCATTGAATTTTCTAG -3'

Posted On

2016-11-09