Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00490:Gigyf2'

7416

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

Essential gene?

Probably essential (E-score: 0.934) question?

Stock #

IGL00490

Quality Score

Status

Chromosome

Chromosomal Location

87254720-87378518 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 87364572 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 951 (Q951K)

Ref Sequence

ENSEMBL: ENSMUSP00000133327 (fasta)

Gene Model

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

AlphaFold

Q6Y7W8

Predicted Effect

probably damaging
Transcript: ENSMUST00000027475
AA Change: Q951K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000027475
Gene: ENSMUSG00000048000
AA Change: Q951K

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: Q945K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000134077
Gene: ENSMUSG00000048000
AA Change: Q945K

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

possibly damaging
Transcript: ENSMUST00000172964
AA Change: Q951K

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000133392
Gene: ENSMUSG00000048000
AA Change: Q951K

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: 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

unknown
Transcript: ENSMUST00000173235
AA Change: Q772K

SMART Domains

Protein: ENSMUSP00000134677
Gene: ENSMUSG00000048000
AA Change: Q772K

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 damaging
Transcript: ENSMUST00000174501
AA Change: Q951K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000133327
Gene: ENSMUSG00000048000
AA Change: Q951K

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

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	A	G	4: 129,905,665 (GRCm39)	E837G	possibly damaging	Het
Atp13a3	A	G	16: 30,171,172 (GRCm39)	M291T	probably benign	Het
Coq8b	C	A	7: 26,956,902 (GRCm39)	H518Q	probably benign	Het
Crebrf	A	G	17: 26,962,067 (GRCm39)	D388G	probably damaging	Het
Cyp2d10	A	T	15: 82,287,515 (GRCm39)	S244T	possibly damaging	Het
Ddr2	A	T	1: 169,832,763 (GRCm39)	L99H	probably damaging	Het
Dennd1a	G	T	2: 37,691,164 (GRCm39)	D251E	probably damaging	Het
Fam210a	G	T	18: 68,401,983 (GRCm39)	T210N	probably damaging	Het
Gramd1b	T	A	9: 40,221,337 (GRCm39)	I280F	probably damaging	Het
Gsdmc3	T	A	15: 63,731,526 (GRCm39)	K335N	probably benign	Het
Loxhd1	A	T	18: 77,518,770 (GRCm39)	T993S	possibly damaging	Het
Mfsd6	A	G	1: 52,747,413 (GRCm39)	L484P	probably damaging	Het
Myt1l	T	A	12: 29,877,423 (GRCm39)	V358E	unknown	Het
Mzt1	A	G	14: 99,278,106 (GRCm39)		probably benign	Het
Nrxn2	C	A	19: 6,523,623 (GRCm39)	H514Q	possibly damaging	Het
Nup214	G	A	2: 31,923,991 (GRCm39)	E2K	probably damaging	Het
Pcdhb4	G	T	18: 37,442,969 (GRCm39)	G760W	possibly damaging	Het
Ptger2	T	C	14: 45,239,198 (GRCm39)		probably benign	Het
Serpinb1c	T	C	13: 33,067,958 (GRCm39)	K213E	probably damaging	Het
Smcr8	T	A	11: 60,669,458 (GRCm39)		probably null	Het
Spef2	A	T	15: 9,740,621 (GRCm39)	D46E	probably damaging	Het
Tbc1d32	G	A	10: 56,031,861 (GRCm39)	P689L	probably damaging	Het
Tep1	C	A	14: 51,070,930 (GRCm39)	W2123L	probably damaging	Het
Thg1l	T	C	11: 45,845,048 (GRCm39)	E8G	probably benign	Het
Tmem236	A	G	2: 14,224,189 (GRCm39)	Y326C	probably damaging	Het
Trip4	C	T	9: 65,740,692 (GRCm39)	G573R	probably damaging	Het
Trrap	C	T	5: 144,762,035 (GRCm39)	T2320I	probably benign	Het
Tsnaxip1	A	G	8: 106,568,816 (GRCm39)	N435S	probably damaging	Het
Ube3a	A	G	7: 58,921,858 (GRCm39)	N77D	probably damaging	Het
Uvrag	A	T	7: 98,628,948 (GRCm39)	I373N	probably damaging	Het

Other mutations in Gigyf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2012-04-20