Mutagenetix > Incidental Mutation

Incidental Mutation 'R2008:Gigyf2'

219130

Institutional Source

Beutler Lab

Gene Symbol

Gigyf2

Ensembl Gene

ENSMUSG00000048000

Gene Name

GRB10 interacting GYF protein 2

Synonyms

2610016F01Rik, Tnrc15, A830080H02Rik

MMRRC Submission

040017-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.934) question?

Stock #

R2008 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87254720-87378518 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to G at 87301835 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133327 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027475] [ENSMUST00000164992] [ENSMUST00000172794] [ENSMUST00000172964] [ENSMUST00000173173] [ENSMUST00000174501] [ENSMUST00000174501]

AlphaFold

Q6Y7W8

Predicted Effect

probably null
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

probably null
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: 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 null
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

noncoding transcript
Transcript: ENSMUST00000173850

Predicted Effect

probably null
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

probably null
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: ENSMUST00000174605

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	A	4: 148,026,034 (GRCm39)	C185S	probably benign	Het
Acsbg3	A	G	17: 57,193,478 (GRCm39)	N608S	probably benign	Het
Actl6b	T	A	5: 137,567,592 (GRCm39)	S409T	probably damaging	Het
Adam34l	A	T	8: 44,080,074 (GRCm39)	V50D	probably benign	Het
Adgrf2	T	C	17: 43,021,013 (GRCm39)	T604A	probably damaging	Het
Adprs	T	A	4: 126,211,137 (GRCm39)	D260V	probably benign	Het
Akap9	A	G	5: 4,010,131 (GRCm39)	E296G	possibly damaging	Het
Alg5	A	G	3: 54,653,894 (GRCm39)	Y210C	possibly damaging	Het
Aoc1	T	C	6: 48,882,831 (GRCm39)	W236R	probably damaging	Het
Atp11b	A	G	3: 35,909,271 (GRCm39)	D1155G	probably damaging	Het
Atp2c1	T	A	9: 105,309,925 (GRCm39)	T551S	probably benign	Het
Atp7b	A	T	8: 22,517,996 (GRCm39)	C281S	probably damaging	Het
Bmp1	C	T	14: 70,729,906 (GRCm39)	C466Y	probably damaging	Het
Cabin1	T	C	10: 75,570,810 (GRCm39)		probably null	Het
Capn9	T	G	8: 125,318,424 (GRCm39)	C97G	probably damaging	Het
Cbfa2t3	A	G	8: 123,370,032 (GRCm39)	V147A	probably damaging	Het
Ccdc83	T	A	7: 89,893,349 (GRCm39)	Y136F	probably damaging	Het
Cdh6	C	A	15: 13,051,562 (GRCm39)	R357L	possibly damaging	Het
Celf1	A	T	2: 90,840,753 (GRCm39)	N367I	probably damaging	Het
Cep350	T	C	1: 155,790,467 (GRCm39)	I1363V	probably benign	Het
Cfap299	C	T	5: 98,885,561 (GRCm39)	T156I	possibly damaging	Het
Colec12	T	A	18: 9,874,813 (GRCm39)	D696E	probably benign	Het
Ctbp1	C	T	5: 33,408,330 (GRCm39)	E138K	probably damaging	Het
Cyp4a10	T	C	4: 115,382,589 (GRCm39)	I293T	probably damaging	Het
Dclk2	G	A	3: 86,827,342 (GRCm39)	P46S	probably damaging	Het
Dctn1	C	T	6: 83,166,938 (GRCm39)	T263I	probably damaging	Het
Ddx49	A	T	8: 70,748,094 (GRCm39)	V317E	probably damaging	Het
Edil3	G	A	13: 89,093,072 (GRCm39)		probably null	Het
Egflam	A	T	15: 7,267,285 (GRCm39)	V700E	possibly damaging	Het
Fam168b	A	G	1: 34,858,946 (GRCm39)		probably null	Het
H1f2	C	G	13: 23,923,392 (GRCm39)	S187R	probably benign	Het
Heatr4	A	G	12: 84,026,514 (GRCm39)	S248P	probably benign	Het
Hoxd1	A	T	2: 74,594,524 (GRCm39)	I260F	possibly damaging	Het
Hsd3b3	A	T	3: 98,649,408 (GRCm39)	L305Q	probably damaging	Het
Itch	T	A	2: 155,052,379 (GRCm39)	C660S	possibly damaging	Het
Ivd	A	T	2: 118,701,981 (GRCm39)	I138F	probably benign	Het
Katnip	C	G	7: 125,459,738 (GRCm39)	H1189D	probably damaging	Het
Lcn4	G	T	2: 26,561,228 (GRCm39)	Q18K	possibly damaging	Het
Mapkbp1	T	C	2: 119,843,146 (GRCm39)	Y192H	probably damaging	Het
Mn1	T	C	5: 111,566,723 (GRCm39)	L231P	probably damaging	Het
Morc1	A	G	16: 48,386,009 (GRCm39)	D544G	probably benign	Het
Mthfd1	C	A	12: 76,344,293 (GRCm39)	T331K	probably damaging	Het
Myo18b	T	A	5: 113,021,423 (GRCm39)	Y546F	probably benign	Het
Nod1	T	C	6: 54,916,310 (GRCm39)	Y129C	probably damaging	Het
Nprl3	A	G	11: 32,182,973 (GRCm39)	V563A	probably damaging	Het
Or13a18	T	C	7: 140,190,498 (GRCm39)	Y140H	probably damaging	Het
Or4a80	A	T	2: 89,582,417 (GRCm39)	C252S	possibly damaging	Het
Or5g29	A	G	2: 85,421,766 (GRCm39)	N294S	probably damaging	Het
Or5p72	T	C	7: 108,022,389 (GRCm39)	F204L	probably benign	Het
Or8b1b	T	C	9: 38,375,537 (GRCm39)	S67P	probably damaging	Het
Orc3	T	A	4: 34,611,049 (GRCm39)		probably null	Het
Otog	T	C	7: 45,913,498 (GRCm39)	V777A	probably benign	Het
Pbxip1	G	T	3: 89,356,020 (GRCm39)	V711L	probably benign	Het
Pcdhb16	A	G	18: 37,611,316 (GRCm39)	D92G	probably damaging	Het
Phkb	T	A	8: 86,783,096 (GRCm39)	M964K	probably damaging	Het
Pitpnm2	T	A	5: 124,290,684 (GRCm39)	M1L	probably damaging	Het
Pkhd1	A	G	1: 20,269,683 (GRCm39)	V3287A	probably damaging	Het
Polq	T	A	16: 36,882,844 (GRCm39)	H1669Q	probably damaging	Het
Ppp4r4	T	C	12: 103,552,016 (GRCm39)	S195P	probably damaging	Het
Prdm2	T	C	4: 142,861,517 (GRCm39)	Y591C	probably damaging	Het
Rgsl1	T	A	1: 153,701,651 (GRCm39)	T268S	possibly damaging	Het
Scd2	A	T	19: 44,291,610 (GRCm39)	T350S	probably benign	Het
Scn7a	T	A	2: 66,518,091 (GRCm39)	Q1040L	possibly damaging	Het
Sdhb	T	A	4: 140,706,340 (GRCm39)	L259Q	probably damaging	Het
Senp6	A	G	9: 80,033,680 (GRCm39)	H701R	probably damaging	Het
Slc41a2	C	T	10: 83,140,167 (GRCm39)		probably null	Het
Slx4	T	C	16: 3,797,785 (GRCm39)	D1533G	probably damaging	Het
Spef2	T	C	15: 9,713,271 (GRCm39)	K367R	possibly damaging	Het
Sstr3	G	A	15: 78,424,711 (GRCm39)	T12M	probably benign	Het
Synj2	G	T	17: 6,047,221 (GRCm39)	E20D	probably damaging	Het
Tchh	G	T	3: 93,353,281 (GRCm39)	R907L	unknown	Het
Thsd1	A	G	8: 22,749,247 (GRCm39)	E645G	probably benign	Het
Tmem176b	A	T	6: 48,812,383 (GRCm39)	M194K	probably damaging	Het
Tmprss11f	T	C	5: 86,739,265 (GRCm39)		probably null	Het
Trim44	G	A	2: 102,230,722 (GRCm39)		probably benign	Het
Triml1	T	A	8: 43,583,642 (GRCm39)	R320W	probably damaging	Het
Trmt6	A	T	2: 132,648,829 (GRCm39)	C401*	probably null	Het
Trpv5	T	C	6: 41,636,662 (GRCm39)		probably null	Het
V1rd19	T	A	7: 23,702,726 (GRCm39)	L64*	probably null	Het
Vmn1r216	A	T	13: 23,283,661 (GRCm39)	R115W	probably damaging	Het
Vmn2r58	T	C	7: 41,509,924 (GRCm39)	N551S	probably damaging	Het
Vmn2r77	T	C	7: 86,450,921 (GRCm39)	V269A	probably benign	Het
Vps13d	A	T	4: 144,881,813 (GRCm39)	V1254D	probably benign	Het
Xpr1	T	C	1: 155,156,775 (GRCm39)		probably null	Het
Zan	T	A	5: 137,450,712 (GRCm39)	T1622S	unknown	Het
Zfp112	T	C	7: 23,826,176 (GRCm39)	Y715H	probably damaging	Het
Zfp750	G	A	11: 121,403,951 (GRCm39)	P308L	possibly 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
R2111:Gigyf2	UTSW	1	87,368,452 (GRCm39)	missense	probably damaging	0.99
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'- ACATTTATAGGTGCAGTGGGAG -3'
(R):5'- AATTCCTCTCCAAAGCAGGG -3'

Sequencing Primer
(F):5'- TGGGGAGAAACAATATGTAGTTTTG -3'
(R):5'- CTCTCCAAAGCAGGGGCAGTAG -3'

Posted On

2014-08-25