Mutagenetix > Incidental Mutation

Incidental Mutation 'R5964:Gigyf2'

471920

Institutional Source

Beutler Lab

Gene Symbol

Gigyf2

Ensembl Gene

ENSMUSG00000048000

Gene Name

GRB10 interacting GYF protein 2

Synonyms

2610016F01Rik, Tnrc15, A830080H02Rik

MMRRC Submission

044149-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.943) question?

Stock #

R5964 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87326998-87450796 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 87407167 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 294 (T294M)

Ref Sequence

ENSEMBL: ENSMUSP00000134193 (fasta)

Gene Model

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

AlphaFold

Q6Y7W8

Predicted Effect

unknown
Transcript: ENSMUST00000027475
AA Change: T300M

SMART Domains

Protein: ENSMUSP00000027475
Gene: ENSMUSG00000048000
AA Change: T300M

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: ENSMUST00000164992
AA Change: T243M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129046
Gene: ENSMUSG00000048000
AA Change: T243M

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 damaging
Transcript: ENSMUST00000172736
AA Change: T102M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134620
Gene: ENSMUSG00000048000
AA Change: T102M

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

Predicted Effect

unknown
Transcript: ENSMUST00000172794
AA Change: T294M

SMART Domains

Protein: ENSMUSP00000134077
Gene: ENSMUSG00000048000
AA Change: T294M

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: T300M

SMART Domains

Protein: ENSMUSP00000133392
Gene: ENSMUSG00000048000
AA Change: T300M

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 damaging
Transcript: ENSMUST00000173152
AA Change: T81M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134086
Gene: ENSMUSG00000048000
AA Change: T81M

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 damaging
Transcript: ENSMUST00000173173
AA Change: T294M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134193
Gene: ENSMUSG00000048000
AA Change: T294M

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: T121M

SMART Domains

Protein: ENSMUSP00000134677
Gene: ENSMUSG00000048000
AA Change: T121M

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 damaging
Transcript: ENSMUST00000173663
AA Change: T75M

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133416
Gene: ENSMUSG00000048000
AA Change: T75M

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

Predicted Effect

unknown
Transcript: ENSMUST00000174501
AA Change: T300M

SMART Domains

Protein: ENSMUSP00000133327
Gene: ENSMUSG00000048000
AA Change: T300M

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

Predicted Effect

probably benign
Transcript: ENSMUST00000174334

SMART Domains

Protein: ENSMUSP00000133666
Gene: ENSMUSG00000048000

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.2%

Validation Efficiency

96% (87/91)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam15	G	A	3: 89,343,567	Q581*	probably null	Het
Agl	A	G	3: 116,793,774	V44A	probably damaging	Het
Alpk3	T	A	7: 81,092,260	D608E	possibly damaging	Het
Aspm	C	A	1: 139,455,227		probably benign	Het
Bbs2	T	C	8: 94,068,367	N692S	probably benign	Het
Bend4	A	G	5: 67,417,818	I240T	probably benign	Het
Casp8	G	T	1: 58,833,736	R277L	possibly damaging	Het
Ccdc61	A	T	7: 18,900,940	I123N	probably damaging	Het
Ccr9	T	G	9: 123,779,434	I60M	probably benign	Het
Cd163	T	A	6: 124,326,572	W1066R	probably benign	Het
Cd226	A	T	18: 89,207,183	H68L	probably benign	Het
Cdkn3	T	A	14: 46,767,217	C79S	probably null	Het
Cnnm1	A	T	19: 43,469,723	E658V	probably benign	Het
Cog7	T	C	7: 121,956,029	R304G	probably damaging	Het
Cpt1a	T	A	19: 3,365,760	V286E	possibly damaging	Het
Creg2	C	A	1: 39,624,954	R212L	probably benign	Het
Cyp26a1	T	G	19: 37,699,962	S311A	probably damaging	Het
Cyp2b10	T	C	7: 25,926,223	Y484H	probably benign	Het
Cyp3a44	T	A	5: 145,788,467	Y308F	possibly damaging	Het
Dlg5	A	G	14: 24,164,089	V744A	probably benign	Het
Dlgap2	T	A	8: 14,727,128	Y124*	probably null	Het
Dnah3	T	C	7: 119,922,880	D4030G	probably benign	Het
Dnah5	A	G	15: 28,458,584	T4456A	possibly damaging	Het
Dtx2	T	A	5: 136,023,699	V347D	probably benign	Het
Gli3	C	G	13: 15,726,162	S1378*	probably null	Het
Gm884	A	G	11: 103,542,120	S1232P	possibly damaging	Het
Gnao1	G	A	8: 93,966,999	D337N	probably benign	Het
Gp2	T	A	7: 119,449,129	Q422L	probably benign	Het
Ifit1	T	A	19: 34,648,469	M335K	possibly damaging	Het
Ism1	T	C	2: 139,678,757	S30P	probably benign	Het
Itgax	A	G	7: 128,140,447	D677G	probably damaging	Het
Kansl1l	G	A	1: 66,725,922	A442V	probably damaging	Het
Kif13a	T	C	13: 46,771,524	I311M	probably damaging	Het
Lsm14b	T	A	2: 180,031,425	S84R	probably benign	Het
Lzts3	A	G	2: 130,636,288	Y297H	probably damaging	Het
Map4k3	A	G	17: 80,644,762	I205T	probably damaging	Het
Matn2	A	T	15: 34,410,165	N501I	probably damaging	Het
Mctp2	T	C	7: 72,103,177	E776G	probably damaging	Het
Mex3d	A	T	10: 80,382,587	N265K	probably damaging	Het
Myo5a	A	G	9: 75,203,833	T1534A	probably benign	Het
Ncoa7	T	C	10: 30,704,636	M35V	probably damaging	Het
Nek4	G	A	14: 30,957,079		probably null	Het
Ngrn	T	C	7: 80,261,933		probably null	Het
Nlrp1a	T	A	11: 71,123,020	Q468L	probably benign	Het
Olfr1450	A	C	19: 12,954,531	Q314P	probably benign	Het
Olfr743	T	A	14: 50,534,198	M262K	probably damaging	Het
Phtf2	T	C	5: 20,775,934	D433G	probably damaging	Het
Prdm13	G	A	4: 21,683,852	Q140*	probably null	Het
Prtg	G	A	9: 72,892,254	G778E	probably benign	Het
Pum3	T	C	19: 27,420,051	E308G	probably damaging	Het
Pwp1	T	G	10: 85,882,886	F306V	probably damaging	Het
Rab24	A	T	13: 55,321,576	Y27N	probably damaging	Het
Rnf215	T	C	11: 4,135,898	F126L	probably benign	Het
Samd13	A	T	3: 146,680,696		probably benign	Het
Serac1	T	A	17: 6,065,049	H213L	probably benign	Het
Slc45a3	A	G	1: 131,978,073	E278G	probably damaging	Het
Slit3	C	T	11: 35,700,236	R1292C	probably damaging	Het
Slx4	A	T	16: 4,000,951		probably null	Het
Smarca4	C	A	9: 21,647,430	T631K	probably benign	Het
Snx16	C	T	3: 10,434,481	R163Q	possibly damaging	Het
Stk40	T	C	4: 126,128,895	V140A	probably damaging	Het
Tcf12	A	T	9: 71,868,240	D409E	probably damaging	Het
Tgfbr2	G	T	9: 116,110,255	T168K	possibly damaging	Het
Ticam1	G	T	17: 56,271,703	H131N	probably damaging	Het
Ttn	C	A	2: 76,713,511	E31298*	probably null	Het
Ttn	C	A	2: 76,829,888	R7458I	possibly damaging	Het
Usp7	A	G	16: 8,712,102	V133A	possibly damaging	Het
Wbp1l	C	T	19: 46,654,180	R191*	probably null	Het
Wdfy4	T	C	14: 33,106,011	E1118G	probably damaging	Het
Zfp81	G	C	17: 33,336,845	P3A	probably damaging	Het
Znhit6	A	G	3: 145,576,933	K21R	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
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
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
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'- AGATGGCCCTCGTTCTACAG -3'
(R):5'- TATGGCTGCTGTCAGAGTCAG -3'

Sequencing Primer
(F):5'- TTCTACAGGCTGGCGGGAAC -3'
(R):5'- TGTCAGAGTCAGAGCGCTC -3'

Posted On

2017-03-31