Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02222:Gigyf2'

285200

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gigyf2

Ensembl Gene

ENSMUSG00000048000

Gene Name

GRB10 interacting GYF protein 2

Synonyms

2610016F01Rik, Tnrc15, A830080H02Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.935) question?

Stock #

IGL02222

Quality Score

Status

Chromosome

Chromosomal Location

87326998-87450796 bp(+) (GRCm38)

Type of Mutation

splice site (3820 bp from exon)

DNA Base Change (assembly)

A to G at 87410863 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133666 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027475] [ENSMUST00000164992] [ENSMUST00000172736] [ENSMUST00000172794] [ENSMUST00000172964] [ENSMUST00000173148] [ENSMUST00000173152] [ENSMUST00000173173] [ENSMUST00000173663] [ENSMUST00000174334] [ENSMUST00000174501]

Predicted Effect

probably benign
Transcript: ENSMUST00000027475

SMART Domains

Protein: ENSMUSP00000027475
Gene: ENSMUSG00000048000

Domain	Start	End	E-Value	Type
low complexity region	66	83	N/A	INTRINSIC
low complexity region	99	132	N/A	INTRINSIC
low complexity region	143	155	N/A	INTRINSIC
low complexity region	247	285	N/A	INTRINSIC
low complexity region	330	341	N/A	INTRINSIC
internal_repeat_1	344	384	2.48e-5	PROSPERO
internal_repeat_1	404	440	2.48e-5	PROSPERO
GYF	535	590	2.83e-26	SMART
low complexity region	620	667	N/A	INTRINSIC
coiled coil region	723	1037	N/A	INTRINSIC
low complexity region	1096	1110	N/A	INTRINSIC
low complexity region	1119	1130	N/A	INTRINSIC
coiled coil region	1194	1223	N/A	INTRINSIC
low complexity region	1236	1246	N/A	INTRINSIC
low complexity region	1254	1260	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158988

Predicted Effect

probably benign
Transcript: ENSMUST00000164992

SMART Domains

Protein: ENSMUSP00000129046
Gene: ENSMUSG00000048000

Domain	Start	End	E-Value	Type
low complexity region	66	83	N/A	INTRINSIC
low complexity region	99	129	N/A	INTRINSIC
low complexity region	190	228	N/A	INTRINSIC
low complexity region	273	284	N/A	INTRINSIC
GYF	478	533	2.83e-26	SMART
low complexity region	563	610	N/A	INTRINSIC
coiled coil region	666	721	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000172736

SMART Domains

Protein: ENSMUSP00000134620
Gene: ENSMUSG00000048000

Domain	Start	End	E-Value	Type
low complexity region	49	87	N/A	INTRINSIC
low complexity region	132	143	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172794

SMART Domains

Protein: ENSMUSP00000134077
Gene: ENSMUSG00000048000

Domain	Start	End	E-Value	Type
low complexity region	66	83	N/A	INTRINSIC
low complexity region	99	132	N/A	INTRINSIC
low complexity region	143	155	N/A	INTRINSIC
low complexity region	241	279	N/A	INTRINSIC
low complexity region	324	335	N/A	INTRINSIC
internal_repeat_1	338	378	2.29e-5	PROSPERO
internal_repeat_1	398	434	2.29e-5	PROSPERO
GYF	529	584	2.83e-26	SMART
low complexity region	614	661	N/A	INTRINSIC
coiled coil region	717	1031	N/A	INTRINSIC
low complexity region	1090	1104	N/A	INTRINSIC
low complexity region	1113	1124	N/A	INTRINSIC
coiled coil region	1188	1217	N/A	INTRINSIC
low complexity region	1230	1240	N/A	INTRINSIC
low complexity region	1248	1254	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172964

SMART Domains

Protein: ENSMUSP00000133392
Gene: ENSMUSG00000048000

Domain	Start	End	E-Value	Type
low complexity region	66	83	N/A	INTRINSIC
low complexity region	99	132	N/A	INTRINSIC
low complexity region	143	155	N/A	INTRINSIC
low complexity region	247	285	N/A	INTRINSIC
low complexity region	330	341	N/A	INTRINSIC
internal_repeat_1	344	384	3.03e-5	PROSPERO
internal_repeat_1	404	440	3.03e-5	PROSPERO
GYF	535	590	2.83e-26	SMART
low complexity region	620	667	N/A	INTRINSIC
SCOP:d1eq1a_	724	859	1e-2	SMART
low complexity region	953	972	N/A	INTRINSIC
low complexity region	1008	1031	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173148

Predicted Effect

probably null
Transcript: ENSMUST00000173152

SMART Domains

Protein: ENSMUSP00000134086
Gene: ENSMUSG00000048000

Domain	Start	End	E-Value	Type
low complexity region	28	66	N/A	INTRINSIC
low complexity region	111	122	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173173

SMART Domains

Protein: ENSMUSP00000134193
Gene: ENSMUSG00000048000

Domain	Start	End	E-Value	Type
low complexity region	66	83	N/A	INTRINSIC
low complexity region	99	132	N/A	INTRINSIC
low complexity region	143	155	N/A	INTRINSIC
low complexity region	241	279	N/A	INTRINSIC
low complexity region	324	335	N/A	INTRINSIC
GYF	528	583	2.83e-26	SMART
low complexity region	613	660	N/A	INTRINSIC
SCOP:d1eq1a_	717	852	1e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173235

SMART Domains

Protein: ENSMUSP00000134677
Gene: ENSMUSG00000048000

Domain	Start	End	E-Value	Type
low complexity region	69	107	N/A	INTRINSIC
low complexity region	152	163	N/A	INTRINSIC
internal_repeat_1	166	206	3.2e-5	PROSPERO
internal_repeat_1	226	262	3.2e-5	PROSPERO
GYF	357	412	2.83e-26	SMART
low complexity region	442	489	N/A	INTRINSIC
coiled coil region	544	745	N/A	INTRINSIC
low complexity region	775	786	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173636

Predicted Effect

probably null
Transcript: ENSMUST00000173663

SMART Domains

Protein: ENSMUSP00000133416
Gene: ENSMUSG00000048000

Domain	Start	End	E-Value	Type
low complexity region	22	60	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000174334

SMART Domains

Protein: ENSMUSP00000133666
Gene: ENSMUSG00000048000

Domain	Start	End	E-Value	Type
low complexity region	77	84	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174501

SMART Domains

Protein: ENSMUSP00000133327
Gene: ENSMUSG00000048000

Domain	Start	End	E-Value	Type
low complexity region	66	83	N/A	INTRINSIC
low complexity region	99	132	N/A	INTRINSIC
low complexity region	143	155	N/A	INTRINSIC
low complexity region	247	285	N/A	INTRINSIC
low complexity region	330	341	N/A	INTRINSIC
internal_repeat_1	344	384	2.48e-5	PROSPERO
internal_repeat_1	404	440	2.48e-5	PROSPERO
GYF	535	590	2.83e-26	SMART
low complexity region	620	667	N/A	INTRINSIC
coiled coil region	723	1037	N/A	INTRINSIC
low complexity region	1096	1110	N/A	INTRINSIC
low complexity region	1119	1130	N/A	INTRINSIC
coiled coil region	1194	1223	N/A	INTRINSIC
low complexity region	1236	1246	N/A	INTRINSIC
low complexity region	1254	1260	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174535

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene contains CAG trinucleotide repeats and encodes a protein containing several stretches of polyglutamine residues. The encoded protein may be involved in the regulation of tyrosine kinase receptor signaling. This gene is located in a chromosomal region that was genetically linked to Parkinson disease type 11, and mutations in this gene were thought to be causative for this disease. However, more recent studies in different populations have been unable to replicate this association. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal and postnatal lethality. Mice heterozygous for a knock-out allele exhibit impaired motor coordination with motor neuron degeneration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	A	1: 71,282,886	R1682W	probably benign	Het
Angptl6	A	T	9: 20,873,907	M450K	probably damaging	Het
Armc12	C	A	17: 28,538,720	N275K	probably damaging	Het
Cd27	T	C	6: 125,234,532	H144R	probably damaging	Het
Cenpf	T	C	1: 189,654,444	K1880E	probably benign	Het
Dchs1	A	T	7: 105,764,887	I907N	probably damaging	Het
Dpy19l4	A	C	4: 11,281,116	F443C	possibly damaging	Het
Eif3i	C	T	4: 129,592,088	D315N	possibly damaging	Het
Fam217a	A	G	13: 34,911,119	L128P	probably damaging	Het
Fam46b	T	C	4: 133,486,553	V245A	probably damaging	Het
Fetub	C	T	16: 22,932,328	L62F	probably damaging	Het
Fmn1	A	T	2: 113,593,109	I1047F	probably damaging	Het
G2e3	A	G	12: 51,363,233	H267R	probably damaging	Het
Gm10650	T	C	3: 128,040,140		noncoding transcript	Het
Grip1	C	T	10: 119,999,809	T470I	probably damaging	Het
Hmcn1	T	G	1: 150,806,401	D466A	probably benign	Het
Lrrc63	T	C	14: 75,086,140	Y548C	probably damaging	Het
Naaa	T	C	5: 92,259,550		probably benign	Het
Parpbp	T	A	10: 88,140,085	E55D	possibly damaging	Het
Pnpt1	G	A	11: 29,130,842	A29T	probably benign	Het
Pnpt1	A	T	11: 29,159,327	D691V	possibly damaging	Het
Pramef6	A	G	4: 143,895,846	M313T	possibly damaging	Het
Psg25	T	C	7: 18,529,727	N57S	probably damaging	Het
Selenbp2	T	A	3: 94,699,962	V168E	probably damaging	Het
Syne2	G	A	12: 75,952,843	E2337K	probably damaging	Het
Synj2	A	G	17: 6,037,480	T1269A	probably benign	Het
Tnfrsf13c	C	A	15: 82,223,163	V144L	probably damaging	Het
Uspl1	G	T	5: 149,194,044	V132L	probably benign	Het
Vmn2r58	T	A	7: 41,864,025	Y398F	possibly damaging	Het
Vps13a	T	A	19: 16,682,175	T1663S	probably benign	Het
Ythdc1	G	A	5: 86,828,043	R503H	possibly damaging	Het

Other mutations in Gigyf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00490:Gigyf2	APN	1	87436850	missense	probably damaging	0.99
IGL01828:Gigyf2	APN	1	87419098	missense	probably damaging	1.00
IGL02259:Gigyf2	APN	1	87411837	missense	probably damaging	1.00
IGL02562:Gigyf2	APN	1	87407375	missense	probably benign	0.15
IGL02565:Gigyf2	APN	1	87442136	missense	probably damaging	1.00
IGL02695:Gigyf2	APN	1	87416827	missense	probably benign	0.07
IGL03264:Gigyf2	APN	1	87449068	splice site	probably benign
Flop	UTSW	1	87365266	missense	probably damaging	1.00
FR4449:Gigyf2	UTSW	1	87428585	unclassified	probably benign
PIT4260001:Gigyf2	UTSW	1	87419106	missense	unknown
R0041:Gigyf2	UTSW	1	87378976	missense	probably damaging	1.00
R0126:Gigyf2	UTSW	1	87411875	splice site	probably benign
R0190:Gigyf2	UTSW	1	87428688	unclassified	probably benign
R0244:Gigyf2	UTSW	1	87379015	missense	possibly damaging	0.96
R0492:Gigyf2	UTSW	1	87440846	missense	probably damaging	1.00
R0526:Gigyf2	UTSW	1	87421493	missense	probably benign	0.00
R0612:Gigyf2	UTSW	1	87449080	missense	probably damaging	1.00
R0731:Gigyf2	UTSW	1	87407727	splice site	probably benign
R0783:Gigyf2	UTSW	1	87407161	missense	probably damaging	0.99
R1445:Gigyf2	UTSW	1	87443638	splice site	probably benign
R1620:Gigyf2	UTSW	1	87449128	missense	probably damaging	1.00
R1678:Gigyf2	UTSW	1	87416983	missense	probably benign	0.44
R2008:Gigyf2	UTSW	1	87374113	critical splice donor site	probably null
R2111:Gigyf2	UTSW	1	87440730	missense	probably damaging	0.99
R2112:Gigyf2	UTSW	1	87440730	missense	probably damaging	0.99
R2180:Gigyf2	UTSW	1	87416920	missense	probably damaging	1.00
R3438:Gigyf2	UTSW	1	87440580	missense	probably damaging	0.96
R3690:Gigyf2	UTSW	1	87421516	missense	possibly damaging	0.80
R4089:Gigyf2	UTSW	1	87443672	missense	probably damaging	1.00
R4411:Gigyf2	UTSW	1	87436860	missense	probably damaging	1.00
R4412:Gigyf2	UTSW	1	87436860	missense	probably damaging	1.00
R4489:Gigyf2	UTSW	1	87440826	missense	probably damaging	1.00
R4743:Gigyf2	UTSW	1	87365248	nonsense	probably null
R4769:Gigyf2	UTSW	1	87440849	missense	probably damaging	1.00
R4854:Gigyf2	UTSW	1	87354413	unclassified	probably benign
R5215:Gigyf2	UTSW	1	87365266	missense	probably damaging	1.00
R5326:Gigyf2	UTSW	1	87425138	unclassified	probably benign
R5771:Gigyf2	UTSW	1	87446328	missense	possibly damaging	0.90
R5813:Gigyf2	UTSW	1	87440763	missense	probably damaging	0.99
R5964:Gigyf2	UTSW	1	87407167	missense	probably damaging	1.00
R6026:Gigyf2	UTSW	1	87440732	missense	probably damaging	0.99
R6035:Gigyf2	UTSW	1	87410728	missense	possibly damaging	0.93
R6035:Gigyf2	UTSW	1	87410728	missense	possibly damaging	0.93
R6784:Gigyf2	UTSW	1	87443674	missense	probably damaging	1.00
R6800:Gigyf2	UTSW	1	87419176	missense	possibly damaging	0.68
R6991:Gigyf2	UTSW	1	87407136	missense	probably damaging	1.00
R7224:Gigyf2	UTSW	1	87403725	missense	unknown
R7464:Gigyf2	UTSW	1	87428604	missense	unknown
R7554:Gigyf2	UTSW	1	87407570	missense	unknown
R7658:Gigyf2	UTSW	1	87419138	missense	unknown
R7976:Gigyf2	UTSW	1	87403736	missense	unknown
R8032:Gigyf2	UTSW	1	87407013	missense	unknown
R8070:Gigyf2	UTSW	1	87440907	missense	probably benign	0.03
R8071:Gigyf2	UTSW	1	87446433	missense	probably damaging	0.99
R8519:Gigyf2	UTSW	1	87410709	missense	probably benign	0.01
X0065:Gigyf2	UTSW	1	87411867	missense	probably damaging	1.00

Posted On

2015-04-16