Mutagenetix > Incidental Mutation

Incidental Mutation 'R2111:Gigyf2'

232519

Institutional Source

Beutler Lab

Gene Symbol

Gigyf2

Ensembl Gene

ENSMUSG00000048000

Gene Name

GRB10 interacting GYF protein 2

Synonyms

2610016F01Rik, Tnrc15, A830080H02Rik

MMRRC Submission

040115-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.939) question?

Stock #

R2111 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87254720-87378518 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87368452 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 1044 (H1044R)

Ref Sequence

ENSEMBL: ENSMUSP00000133392 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027475] [ENSMUST00000172794] [ENSMUST00000172964] [ENSMUST00000174501]

AlphaFold

Q6Y7W8

Predicted Effect

probably damaging
Transcript: ENSMUST00000027475
AA Change: H1044R

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000027475
Gene: ENSMUSG00000048000
AA Change: H1044R

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

probably damaging
Transcript: ENSMUST00000172794
AA Change: H1038R

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134077
Gene: ENSMUSG00000048000
AA Change: H1038R

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 damaging
Transcript: ENSMUST00000172964
AA Change: H1044R

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133392
Gene: ENSMUSG00000048000
AA Change: H1044R

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: 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

noncoding transcript
Transcript: ENSMUST00000174482

Predicted Effect

probably damaging
Transcript: ENSMUST00000174501
AA Change: H1044R

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133327
Gene: ENSMUSG00000048000
AA Change: H1044R

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: ENSMUST00000174671

Meta Mutation Damage Score

0.0602

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (86/86)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330161L09Rik	T	C	12: 103,373,848 (GRCm39)		probably benign	Het
Abca2	A	T	2: 25,327,517 (GRCm39)	I669F	possibly damaging	Het
Adam9	C	T	8: 25,472,142 (GRCm39)		probably benign	Het
Adprhl1	A	G	8: 13,298,694 (GRCm39)	Y79H	probably damaging	Het
Akp3	A	T	1: 87,054,607 (GRCm39)		probably null	Het
Alpk2	T	C	18: 65,482,845 (GRCm39)	S388G	probably benign	Het
Amph	G	A	13: 19,300,436 (GRCm39)		probably benign	Het
Arr3	T	A	X: 99,658,247 (GRCm39)	F269L	possibly damaging	Het
Atp2a2	A	G	5: 122,597,609 (GRCm39)	F808S	probably damaging	Het
Baz1a	T	A	12: 54,958,170 (GRCm39)	N1027I	probably damaging	Het
C2cd4c	G	T	10: 79,448,255 (GRCm39)	H297Q	probably damaging	Het
Calr3	T	A	8: 73,181,112 (GRCm39)	D160V	probably damaging	Het
Cdc42ep1	C	T	15: 78,731,692 (GRCm39)	R46C	probably damaging	Het
Cdh23	G	T	10: 60,141,362 (GRCm39)	F3127L	probably damaging	Het
Cfhr4	T	A	1: 139,702,417 (GRCm39)		probably benign	Het
Cps1	T	A	1: 67,216,139 (GRCm39)	D821E	probably benign	Het
Cyp2e1	C	A	7: 140,353,547 (GRCm39)	T328K	probably damaging	Het
Dcp1a	T	C	14: 30,241,327 (GRCm39)	V379A	probably benign	Het
Dst	T	C	1: 34,208,259 (GRCm39)	S737P	probably damaging	Het
Dtx2	C	T	5: 136,059,431 (GRCm39)	S493F	probably damaging	Het
Eci2	A	G	13: 35,174,699 (GRCm39)		probably null	Het
Ercc6l2	A	G	13: 63,982,563 (GRCm39)	T126A	probably damaging	Het
Fgf6	T	C	6: 126,992,723 (GRCm39)	S59P	probably damaging	Het
Fmnl2	A	G	2: 52,995,549 (GRCm39)	E424G	probably damaging	Het
Gapvd1	G	T	2: 34,574,329 (GRCm39)	A1256D	probably benign	Het
Gcfc2	C	A	6: 81,900,759 (GRCm39)	D24E	probably benign	Het
Gk2	T	C	5: 97,604,164 (GRCm39)	I225V	probably benign	Het
Gm3944	C	A	12: 18,903,895 (GRCm39)	S8*	probably null	Het
Gnl3l	A	G	X: 149,780,290 (GRCm39)	S217P	probably damaging	Het
Gpr156	A	G	16: 37,799,113 (GRCm39)	D109G	probably benign	Het
Hoxd1	A	T	2: 74,593,710 (GRCm39)	T89S	probably benign	Het
Ift172	G	A	5: 31,443,423 (GRCm39)	T112M	probably benign	Het
Igkv1-115	C	A	6: 68,138,613 (GRCm39)	S72*	probably null	Het
Ildr1	A	G	16: 36,542,341 (GRCm39)	E247G	probably damaging	Het
Insr	A	G	8: 3,219,748 (GRCm39)	S925P	probably benign	Het
Itpr1	T	G	6: 108,355,270 (GRCm39)		probably benign	Het
Khdrbs3	C	T	15: 68,896,673 (GRCm39)	T111I	probably benign	Het
Mageb3	A	G	2: 121,785,306 (GRCm39)		probably null	Het
Mcf2l	A	T	8: 13,051,867 (GRCm39)	K433N	probably damaging	Het
Mdn1	A	G	4: 32,700,409 (GRCm39)	E1456G	probably damaging	Het
Mta1	C	T	12: 113,095,248 (GRCm39)	T467I	probably damaging	Het
Mtr	A	T	13: 12,259,487 (GRCm39)	I196N	possibly damaging	Het
Mtus1	G	T	8: 41,475,608 (GRCm39)	P819T	probably damaging	Het
Myh1	G	A	11: 67,105,446 (GRCm39)	D1079N	possibly damaging	Het
Nav1	C	T	1: 135,376,742 (GRCm39)	R1694Q	probably damaging	Het
Neb	A	G	2: 52,174,275 (GRCm39)	I1528T	probably benign	Het
Nek1	T	A	8: 61,577,360 (GRCm39)		probably null	Het
Nes	A	G	3: 87,884,618 (GRCm39)	E915G	probably benign	Het
Nlrp4f	T	C	13: 65,347,167 (GRCm39)	I30M	probably benign	Het
Nup153	A	G	13: 46,837,404 (GRCm39)	S1273P	probably benign	Het
Nup155	A	G	15: 8,150,951 (GRCm39)	I334V	probably benign	Het
Or10j2	A	T	1: 173,097,879 (GRCm39)	M46L	probably benign	Het
Or1e1f	A	G	11: 73,855,740 (GRCm39)	Y102C	probably damaging	Het
Or5b3	G	A	19: 13,388,307 (GRCm39)	A125T	probably damaging	Het
Or5d41	A	G	2: 88,054,818 (GRCm39)	V186A	possibly damaging	Het
Or6d13	T	C	6: 116,517,611 (GRCm39)	Y66H	possibly damaging	Het
Or8b46	T	A	9: 38,450,576 (GRCm39)	N128K	probably benign	Het
Or8k38	G	T	2: 86,488,781 (GRCm39)	T7K	probably damaging	Het
Parn	G	A	16: 13,420,933 (GRCm39)	S473L	probably damaging	Het
Pcnt	T	C	10: 76,256,360 (GRCm39)	K627E	probably damaging	Het
Pja2	T	A	17: 64,597,031 (GRCm39)	D553V	probably damaging	Het
Prune2	T	C	19: 17,185,602 (GRCm39)	F3004L	probably damaging	Het
Rasgrp3	T	C	17: 75,807,753 (GRCm39)		probably null	Het
Rdh13	A	G	7: 4,448,482 (GRCm39)	V10A	probably benign	Het
Rimbp2	T	C	5: 128,850,565 (GRCm39)	Y906C	probably damaging	Het
Ripor1	T	C	8: 106,341,344 (GRCm39)	F59S	probably damaging	Het
Rnf185	T	C	11: 3,382,393 (GRCm39)		probably benign	Het
Runx3	T	C	4: 134,882,627 (GRCm39)	V107A	probably damaging	Het
Scn3b	T	C	9: 40,193,741 (GRCm39)	V156A	probably benign	Het
Serpina3a	G	A	12: 104,082,481 (GRCm39)	A85T	probably damaging	Het
Slc12a7	C	T	13: 73,933,274 (GRCm39)	R111*	probably null	Het
Slc5a5	A	T	8: 71,342,395 (GRCm39)		probably null	Het
Snx13	A	T	12: 35,188,084 (GRCm39)	L787F	probably damaging	Het
Spef2	A	T	15: 9,589,659 (GRCm39)	M1535K	probably damaging	Het
Sphkap	T	G	1: 83,253,602 (GRCm39)	K1382N	probably benign	Het
Tagap1	A	G	17: 7,224,259 (GRCm39)	S146P	probably benign	Het
Tagln3	A	G	16: 45,531,957 (GRCm39)	Y192H	probably damaging	Het
Tbc1d15	A	C	10: 115,076,819 (GRCm39)	S22A	possibly damaging	Het
Tbc1d31	A	G	15: 57,796,040 (GRCm39)	E211G	probably benign	Het
Tmod3	A	G	9: 75,416,645 (GRCm39)	V229A	probably damaging	Het
Ubr2	A	G	17: 47,274,071 (GRCm39)		probably null	Het
Ugt2b36	T	C	5: 87,240,100 (GRCm39)	E95G	probably benign	Het
Unc45b	G	A	11: 82,802,515 (GRCm39)	A4T	probably benign	Het
Usp40	A	G	1: 87,877,936 (GRCm39)	I1117T	probably benign	Het
Vcan	T	A	13: 89,841,422 (GRCm39)	D414V	probably damaging	Het
Xrn1	C	A	9: 95,921,885 (GRCm39)	H1433N	probably benign	Het
Zfp353-ps	T	A	8: 42,536,005 (GRCm39)		noncoding transcript	Het
Zfp74	G	A	7: 29,634,443 (GRCm39)	Q422*	probably null	Het
Zmym3	A	T	X: 100,450,993 (GRCm39)	V1208D	probably damaging	Het

Other mutations in Gigyf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00490:Gigyf2	APN	1	87,364,572 (GRCm39)	missense	probably damaging	0.99
IGL01828:Gigyf2	APN	1	87,346,820 (GRCm39)	missense	probably damaging	1.00
IGL02222:Gigyf2	APN	1	87,338,585 (GRCm39)	splice site	probably null
IGL02259:Gigyf2	APN	1	87,339,559 (GRCm39)	missense	probably damaging	1.00
IGL02562:Gigyf2	APN	1	87,335,097 (GRCm39)	missense	probably benign	0.15
IGL02565:Gigyf2	APN	1	87,369,858 (GRCm39)	missense	probably damaging	1.00
IGL02695:Gigyf2	APN	1	87,344,549 (GRCm39)	missense	probably benign	0.07
IGL03264:Gigyf2	APN	1	87,376,790 (GRCm39)	splice site	probably benign
Flop	UTSW	1	87,292,988 (GRCm39)	missense	probably damaging	1.00
FR4449:Gigyf2	UTSW	1	87,356,307 (GRCm39)	unclassified	probably benign
PIT4260001:Gigyf2	UTSW	1	87,346,828 (GRCm39)	missense	unknown
R0041:Gigyf2	UTSW	1	87,306,698 (GRCm39)	missense	probably damaging	1.00
R0126:Gigyf2	UTSW	1	87,339,597 (GRCm39)	splice site	probably benign
R0190:Gigyf2	UTSW	1	87,356,410 (GRCm39)	unclassified	probably benign
R0244:Gigyf2	UTSW	1	87,306,737 (GRCm39)	missense	possibly damaging	0.96
R0492:Gigyf2	UTSW	1	87,368,568 (GRCm39)	missense	probably damaging	1.00
R0526:Gigyf2	UTSW	1	87,349,215 (GRCm39)	missense	probably benign	0.00
R0612:Gigyf2	UTSW	1	87,376,802 (GRCm39)	missense	probably damaging	1.00
R0731:Gigyf2	UTSW	1	87,335,449 (GRCm39)	splice site	probably benign
R0783:Gigyf2	UTSW	1	87,334,883 (GRCm39)	missense	probably damaging	0.99
R1445:Gigyf2	UTSW	1	87,371,360 (GRCm39)	splice site	probably benign
R1620:Gigyf2	UTSW	1	87,376,850 (GRCm39)	missense	probably damaging	1.00
R1678:Gigyf2	UTSW	1	87,344,705 (GRCm39)	missense	probably benign	0.44
R2008:Gigyf2	UTSW	1	87,301,835 (GRCm39)	critical splice donor site	probably null
R2112:Gigyf2	UTSW	1	87,368,452 (GRCm39)	missense	probably damaging	0.99
R2180:Gigyf2	UTSW	1	87,344,642 (GRCm39)	missense	probably damaging	1.00
R3438:Gigyf2	UTSW	1	87,368,302 (GRCm39)	missense	probably damaging	0.96
R3690:Gigyf2	UTSW	1	87,349,238 (GRCm39)	missense	possibly damaging	0.80
R4089:Gigyf2	UTSW	1	87,371,394 (GRCm39)	missense	probably damaging	1.00
R4411:Gigyf2	UTSW	1	87,364,582 (GRCm39)	missense	probably damaging	1.00
R4412:Gigyf2	UTSW	1	87,364,582 (GRCm39)	missense	probably damaging	1.00
R4489:Gigyf2	UTSW	1	87,368,548 (GRCm39)	missense	probably damaging	1.00
R4743:Gigyf2	UTSW	1	87,292,970 (GRCm39)	nonsense	probably null
R4769:Gigyf2	UTSW	1	87,368,571 (GRCm39)	missense	probably damaging	1.00
R4854:Gigyf2	UTSW	1	87,282,135 (GRCm39)	unclassified	probably benign
R5215:Gigyf2	UTSW	1	87,292,988 (GRCm39)	missense	probably damaging	1.00
R5326:Gigyf2	UTSW	1	87,352,860 (GRCm39)	unclassified	probably benign
R5771:Gigyf2	UTSW	1	87,374,050 (GRCm39)	missense	possibly damaging	0.90
R5813:Gigyf2	UTSW	1	87,368,485 (GRCm39)	missense	probably damaging	0.99
R5964:Gigyf2	UTSW	1	87,334,889 (GRCm39)	missense	probably damaging	1.00
R6026:Gigyf2	UTSW	1	87,368,454 (GRCm39)	missense	probably damaging	0.99
R6035:Gigyf2	UTSW	1	87,338,450 (GRCm39)	missense	possibly damaging	0.93
R6035:Gigyf2	UTSW	1	87,338,450 (GRCm39)	missense	possibly damaging	0.93
R6784:Gigyf2	UTSW	1	87,371,396 (GRCm39)	missense	probably damaging	1.00
R6800:Gigyf2	UTSW	1	87,346,898 (GRCm39)	missense	possibly damaging	0.68
R6991:Gigyf2	UTSW	1	87,334,858 (GRCm39)	missense	probably damaging	1.00
R7224:Gigyf2	UTSW	1	87,331,447 (GRCm39)	missense	unknown
R7464:Gigyf2	UTSW	1	87,356,326 (GRCm39)	missense	unknown
R7554:Gigyf2	UTSW	1	87,335,292 (GRCm39)	missense	unknown
R7658:Gigyf2	UTSW	1	87,346,860 (GRCm39)	missense	unknown
R7976:Gigyf2	UTSW	1	87,331,458 (GRCm39)	missense	unknown
R8032:Gigyf2	UTSW	1	87,334,735 (GRCm39)	missense	unknown
R8070:Gigyf2	UTSW	1	87,368,629 (GRCm39)	missense	probably benign	0.03
R8071:Gigyf2	UTSW	1	87,374,155 (GRCm39)	missense	probably damaging	0.99
R8519:Gigyf2	UTSW	1	87,338,431 (GRCm39)	missense	probably benign	0.01
R8675:Gigyf2	UTSW	1	87,331,438 (GRCm39)	missense	unknown
R8849:Gigyf2	UTSW	1	87,361,592 (GRCm39)	missense	unknown
R8872:Gigyf2	UTSW	1	87,307,725 (GRCm39)	missense	unknown
R9184:Gigyf2	UTSW	1	87,368,311 (GRCm39)	missense	possibly damaging	0.95
R9465:Gigyf2	UTSW	1	87,334,775 (GRCm39)	missense	unknown
R9502:Gigyf2	UTSW	1	87,331,446 (GRCm39)	missense	unknown
R9616:Gigyf2	UTSW	1	87,356,326 (GRCm39)	missense	unknown
R9665:Gigyf2	UTSW	1	87,331,457 (GRCm39)	missense	unknown
X0065:Gigyf2	UTSW	1	87,339,589 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAGGTACCACCAAGTCTCTAC -3'
(R):5'- TTATGAGCCCTACCTGAGACTG -3'

Sequencing Primer
(F):5'- GGTACCACCAAGTCTCTACTAGAG -3'
(R):5'- CTACCTGAGACTGGCGTTG -3'

Posted On

2014-09-18