Mutagenetix > Incidental Mutation

Incidental Mutation 'R0244:Gigyf2'

37935

Institutional Source

Beutler Lab

Gene Symbol

Gigyf2

Ensembl Gene

ENSMUSG00000048000

Gene Name

GRB10 interacting GYF protein 2

Synonyms

2610016F01Rik, Tnrc15, A830080H02Rik

MMRRC Submission

038482-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.940) question?

Stock #

R0244 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87326998-87450796 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87379015 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 142 (D142E)

Ref Sequence

ENSEMBL: ENSMUSP00000134193 (fasta)

Gene Model

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

AlphaFold

Q6Y7W8

Predicted Effect

unknown
Transcript: ENSMUST00000027475
AA Change: D142E

SMART Domains

Protein: ENSMUSP00000027475
Gene: ENSMUSG00000048000
AA Change: D142E

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 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

unknown
Transcript: ENSMUST00000172794
AA Change: D142E

SMART Domains

Protein: ENSMUSP00000134077
Gene: ENSMUSG00000048000
AA Change: D142E

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

unknown
Transcript: ENSMUST00000172964
AA Change: D142E

SMART Domains

Protein: ENSMUSP00000133392
Gene: ENSMUSG00000048000
AA Change: D142E

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

possibly damaging
Transcript: ENSMUST00000173173
AA Change: D142E

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000134193
Gene: ENSMUSG00000048000
AA Change: D142E

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

unknown
Transcript: ENSMUST00000174501
AA Change: D142E

SMART Domains

Protein: ENSMUSP00000133327
Gene: ENSMUSG00000048000
AA Change: D142E

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

Meta Mutation Damage Score

0.0780

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.5%

Validation Efficiency

99% (88/89)

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
2610507B11Rik	T	A	11: 78,286,491		probably null	Het
Adamdec1	A	T	14: 68,568,723	C434*	probably null	Het
Adprhl1	A	G	8: 13,242,391		probably benign	Het
Ago1	T	A	4: 126,463,706	I59F	possibly damaging	Het
Arel1	T	C	12: 84,920,693	T786A	probably damaging	Het
Arhgap26	A	G	18: 39,363,131	K117R	probably benign	Het
Atp6v0b	C	T	4: 117,884,622	G204D	probably damaging	Het
Bace2	T	A	16: 97,436,773		probably null	Het
Camk4	G	A	18: 33,179,625		probably null	Het
Cdh26	C	T	2: 178,481,632	R675C	possibly damaging	Het
Cep152	T	C	2: 125,564,214	E1466G	probably benign	Het
Ces3b	T	C	8: 105,092,635	F441S	probably damaging	Het
Cfap52	T	C	11: 67,926,382	T562A	possibly damaging	Het
Clca3a2	C	A	3: 144,813,898	M238I	possibly damaging	Het
Cntnap5c	A	T	17: 58,102,168	D467V	probably damaging	Het
Col7a1	T	A	9: 108,972,184		probably null	Het
Cstf1	A	G	2: 172,377,710	N247S	possibly damaging	Het
Dffb	G	T	4: 153,974,615	N68K	probably benign	Het
Duox2	C	T	2: 122,291,860	G595S	probably benign	Het
Eftud2	T	A	11: 102,864,725	I228F	probably damaging	Het
Elmo3	T	C	8: 105,309,171	V578A	probably benign	Het
Elp2	A	G	18: 24,631,471	D625G	possibly damaging	Het
Ep300	C	T	15: 81,640,128	P1386S	unknown	Het
Fam120b	A	G	17: 15,417,637	D610G	probably damaging	Het
Fastk	A	T	5: 24,442,178		probably benign	Het
Fbxl6	A	G	15: 76,537,191	S252P	probably damaging	Het
Fbxo43	T	C	15: 36,161,793	K423E	probably damaging	Het
Filip1	T	A	9: 79,819,462	E625V	possibly damaging	Het
Fkbp9	T	A	6: 56,856,378	Y283*	probably null	Het
Gm10142	T	C	10: 77,716,014		probably null	Het
Golga5	T	C	12: 102,476,188	V262A	probably benign	Het
Hectd4	T	C	5: 121,329,605	V2539A	probably benign	Het
Ica1	G	T	6: 8,653,632	S335*	probably null	Het
Itga1	A	T	13: 115,006,897		probably benign	Het
Itgb1	T	C	8: 128,717,685		probably benign	Het
Itpr1	G	A	6: 108,473,589	V1960I	probably benign	Het
Kcnh4	C	T	11: 100,746,932	G633E	probably benign	Het
Kprp	C	T	3: 92,825,411	V111I	probably benign	Het
Lamc3	T	C	2: 31,940,721	I1490T	probably damaging	Het
Lcp1	A	T	14: 75,227,001	D554V	possibly damaging	Het
Lgi3	A	G	14: 70,534,698	T228A	probably benign	Het
Lipa	A	T	19: 34,501,541	F260I	probably damaging	Het
Lrriq1	C	T	10: 103,215,773	E373K	probably damaging	Het
Map6	G	A	7: 99,336,836	G649D	probably benign	Het
Mccc1	A	G	3: 35,990,047		probably null	Het
Mical3	A	T	6: 120,957,722	S1799T	probably benign	Het
Mmp23	T	A	4: 155,652,132	T151S	probably damaging	Het
Myo1d	T	A	11: 80,674,708	N401I	probably damaging	Het
Myo9b	T	A	8: 71,321,813	S323T	probably damaging	Het
Nbn	G	T	4: 15,979,353	W446L	probably benign	Het
Nedd1	A	T	10: 92,716,265		probably benign	Het
Ngef	C	A	1: 87,487,962		probably benign	Het
Nup153	A	T	13: 46,693,936	N672K	probably benign	Het
Olfr1308	T	C	2: 111,961,016	N19S	probably benign	Het
Olfr149	T	A	9: 39,702,173	I199F	probably damaging	Het
Olfr1509	T	C	14: 52,450,512	V33A	probably benign	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Palm2	T	G	4: 57,710,177	V374G	possibly damaging	Het
Pdlim3	C	A	8: 45,908,460		probably benign	Het
Pmfbp1	G	A	8: 109,541,673	E951K	probably damaging	Het
Pop1	T	A	15: 34,515,891	C548*	probably null	Het
Ppp1r16a	C	T	15: 76,690,799		probably benign	Het
Ptpdc1	A	T	13: 48,585,980	N658K	probably benign	Het
Ptprk	A	C	10: 28,206,225	E63D	possibly damaging	Het
Rtf1	C	T	2: 119,732,877	R712W	probably damaging	Het
Samd7	A	C	3: 30,751,073	T2P	probably benign	Het
Sft2d1	A	G	17: 8,319,422	T52A	probably benign	Het
Slc25a26	A	G	6: 94,510,833	H91R	probably damaging	Het
Slc5a4a	A	G	10: 76,189,152	E621G	possibly damaging	Het
Slf1	A	T	13: 77,126,632	L28*	probably null	Het
Snapc1	C	T	12: 73,975,032	R81C	probably damaging	Het
Sorcs2	G	A	5: 36,397,553		probably benign	Het
Tacc2	T	C	7: 130,751,825		probably benign	Het
Tas2r140	A	G	6: 133,055,327	V156A	possibly damaging	Het
Terf2ip	C	A	8: 112,018,164	T371K	possibly damaging	Het
Tifa	C	T	3: 127,796,888	L103F	probably damaging	Het
Tmco3	A	G	8: 13,292,037	N104D	probably damaging	Het
Tmem259	T	A	10: 79,978,963	D240V	probably damaging	Het
Trim60	C	T	8: 65,001,048	R183H	probably benign	Het
Trps1	T	C	15: 50,664,743	N725D	probably damaging	Het
Ttn	C	T	2: 76,814,806	V12902M	probably damaging	Het
Ubxn4	G	A	1: 128,262,904	E256K	probably benign	Het
Unc79	A	G	12: 103,112,891	K1772E	probably damaging	Het
Vwde	C	T	6: 13,193,126	V405I	probably benign	Het
Wdr18	T	A	10: 79,966,408	D290E	probably damaging	Het
Wdr92	T	C	11: 17,229,851	L284P	probably damaging	Het
Wwc2	G	A	8: 47,900,721	A126V	probably benign	Het
Zfp882	A	T	8: 71,913,523	I105F	possibly damaging	Het
Zfp942	A	T	17: 21,928,572	C359S	probably benign	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
IGL02222:Gigyf2	APN	1	87410863	splice site	probably null
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
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
R8675:Gigyf2	UTSW	1	87403716	missense	unknown
R8849:Gigyf2	UTSW	1	87433870	missense	unknown
R8872:Gigyf2	UTSW	1	87380003	missense	unknown
R9184:Gigyf2	UTSW	1	87440589	missense	possibly damaging	0.95
R9465:Gigyf2	UTSW	1	87407053	missense	unknown
R9502:Gigyf2	UTSW	1	87403724	missense	unknown
R9616:Gigyf2	UTSW	1	87428604	missense	unknown
R9665:Gigyf2	UTSW	1	87403735	missense	unknown
X0065:Gigyf2	UTSW	1	87411867	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCCCAGTTCAGTTCTATCAGAGCC -3'
(R):5'- ACCACTCATGAAAGGAACGCGG -3'

Sequencing Primer
(F):5'- CAGTTCTATCAGAGCCATTATGTC -3'
(R):5'- cagaatctccttcctcagcc -3'

Posted On

2013-05-23