Mutagenetix > Incidental Mutation

Incidental Mutation 'R7163:Gpatch8'

557757

Institutional Source

Beutler Lab

Gene Symbol

Gpatch8

Ensembl Gene

ENSMUSG00000034621

Gene Name

G patch domain containing 8

Synonyms

Fbm1, Gpatc8, ENSMUSG00000075516, 5430405G24Rik

MMRRC Submission

045330-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.570) question?

Stock #

R7163 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

102366741-102447218 bp(-) (GRCm39)

Type of Mutation

small insertion (1 aa in frame mutation)

DNA Base Change (assembly)

TTCCTCCTCCTCCTCTTCCTCCTCCTC to TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC at 102371014 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120649 (fasta)

Gene Model

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

AlphaFold

A2A6A1

Predicted Effect

probably benign
Transcript: ENSMUST00000143842

SMART Domains

Protein: ENSMUSP00000120649
Gene: ENSMUSG00000034621

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	A	G	9: 53,319,372 (GRCm39)	K4R	possibly damaging	Het
A830018L16Rik	G	A	1: 11,484,848 (GRCm39)	G19D	probably damaging	Het
Abca3	A	T	17: 24,583,916 (GRCm39)	M102L	probably benign	Het
Adam19	A	T	11: 46,022,544 (GRCm39)	Y499F	probably benign	Het
Adck2	T	C	6: 39,560,797 (GRCm39)	V444A	probably damaging	Het
Adck5	T	C	15: 76,478,016 (GRCm39)	V214A	probably damaging	Het
Agrn	G	A	4: 156,262,966 (GRCm39)	T437M	probably damaging	Het
Aox3	A	T	1: 58,158,671 (GRCm39)	I81F	probably damaging	Het
Bcl6	G	A	16: 23,784,976 (GRCm39)	R675*	probably null	Het
Blmh	A	G	11: 76,836,987 (GRCm39)	Y23C	unknown	Het
Cacnb1	A	G	11: 97,903,726 (GRCm39)	V109A	probably benign	Het
Ccdc27	C	T	4: 154,117,282 (GRCm39)	R555H	not run	Het
Cep170	A	C	1: 176,602,031 (GRCm39)	S358R	probably damaging	Het
Cfap46	A	T	7: 139,197,994 (GRCm39)		probably null	Het
Dclk1	G	T	3: 55,163,549 (GRCm39)	E214*	probably null	Het
Dhrs1	A	G	14: 55,976,838 (GRCm39)	L282P	probably benign	Het
Dlgap5	A	G	14: 47,637,095 (GRCm39)	L461P	probably damaging	Het
Elp2	G	T	18: 24,747,503 (GRCm39)	C185F	probably benign	Het
Fbxw7	T	C	3: 84,832,892 (GRCm39)		probably benign	Het
Fga	T	C	3: 82,933,571 (GRCm39)	V17A	probably benign	Het
Gdi1	G	A	X: 73,350,461 (GRCm39)	R55H	probably benign	Het
Gm43302	T	A	5: 105,441,493 (GRCm39)		probably null	Het
Hcn1	A	T	13: 118,062,083 (GRCm39)	I450L	unknown	Het
Hydin	T	A	8: 111,329,968 (GRCm39)	C4901S	probably benign	Het
Ino80	A	T	2: 119,223,356 (GRCm39)	I1186N	probably damaging	Het
Ints7	T	A	1: 191,349,949 (GRCm39)	I781N	possibly damaging	Het
Irf2	T	A	8: 47,290,712 (GRCm39)	V178E	possibly damaging	Het
Iws1	T	A	18: 32,226,277 (GRCm39)	S722T	possibly damaging	Het
Jak1	G	A	4: 101,032,385 (GRCm39)	S407F	probably damaging	Het
Kdm3a	G	T	6: 71,609,061 (GRCm39)	D55E	probably damaging	Het
Kdm5d	T	C	Y: 899,940 (GRCm39)	S169P	probably damaging	Het
Kif15	A	G	9: 122,846,722 (GRCm39)	N1348S	probably damaging	Het
Kpna7	G	A	5: 144,939,206 (GRCm39)	P187L	unknown	Het
Krt35	A	T	11: 99,986,984 (GRCm39)	F10Y	probably damaging	Het
Lemd1	G	T	1: 132,184,475 (GRCm39)	V131F	probably benign	Het
Mcf2l	G	A	8: 12,965,439 (GRCm39)	R4H	probably benign	Het
Megf6	C	T	4: 154,351,898 (GRCm39)	R1166C	probably damaging	Het
Mmp11	T	C	10: 75,762,410 (GRCm39)	I308V	possibly damaging	Het
Mrgpra4	A	G	7: 47,631,238 (GRCm39)	V121A	probably benign	Het
Myl2	T	A	5: 122,239,885 (GRCm39)	I26N	probably damaging	Het
Myo15a	A	G	11: 60,389,195 (GRCm39)	M862V		Het
Nckap5l	T	C	15: 99,331,354 (GRCm39)	H64R	probably damaging	Het
Nipsnap2	A	C	5: 129,821,774 (GRCm39)	E90A	probably benign	Het
Nup210	G	T	6: 91,050,313 (GRCm39)	N385K	probably damaging	Het
Or2h2	T	C	17: 37,396,937 (GRCm39)	N40S	probably damaging	Het
Or2t48	C	A	11: 58,419,994 (GRCm39)	E273*	probably null	Het
Or5m11b	T	A	2: 85,805,932 (GRCm39)	L115Q	probably damaging	Het
Or8c19-ps1	T	C	9: 38,220,345 (GRCm39)	F85L	probably damaging	Het
Or9e1	T	C	11: 58,732,012 (GRCm39)	V24A	probably benign	Het
Pcmt1	A	T	10: 7,513,922 (GRCm39)	M249K	probably benign	Het
Pde3a	T	C	6: 141,433,270 (GRCm39)	L767P	probably damaging	Het
Pde8a	T	C	7: 80,956,456 (GRCm39)	V285A	possibly damaging	Het
Pla2g4a	T	A	1: 149,716,416 (GRCm39)	K690*	probably null	Het
Plxna4	T	C	6: 32,473,691 (GRCm39)	H442R	probably benign	Het
Polr1b	A	G	2: 128,967,931 (GRCm39)	D1108G	probably benign	Het
Prkn	G	A	17: 12,280,434 (GRCm39)	C430Y	probably damaging	Het
Sec23ip	T	C	7: 128,364,257 (GRCm39)		probably null	Het
Slc24a3	A	G	2: 145,086,911 (GRCm39)	D57G	probably benign	Het
Sprtn	T	G	8: 125,625,044 (GRCm39)	F50V	probably damaging	Het
Srr	A	G	11: 74,803,828 (GRCm39)	F43S	probably damaging	Het
Szt2	A	G	4: 118,262,727 (GRCm39)	F17L	possibly damaging	Het
Taar1	G	T	10: 23,796,918 (GRCm39)	M205I	probably benign	Het
Tas2r143	A	G	6: 42,377,202 (GRCm39)	I11V	probably benign	Het
Tlx1	T	C	19: 45,139,655 (GRCm39)	S101P	probably damaging	Het
Tmeff2	T	C	1: 50,977,503 (GRCm39)		probably null	Het
Vhl	A	G	6: 113,606,451 (GRCm39)	D156G	possibly damaging	Het
Washc4	T	A	10: 83,426,897 (GRCm39)	D1068E	probably damaging	Het
Zfp513	A	G	5: 31,358,076 (GRCm39)	V101A	probably benign	Het
Zfp82	T	C	7: 29,761,669 (GRCm39)	R71G	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
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
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'- GTGATCGGTCGCTATAGTCAC -3'
(R):5'- GTTGCCAAGATCACAGTGGG -3'

Sequencing Primer
(F):5'- GATCGGTCGCTATAGTCACTATAG -3'
(R):5'- CCAAGATCACAGTGGGAGGAAAC -3'

Posted On

2019-06-26