Mutagenetix > Incidental Mutation

Incidental Mutation 'R2112:Gigyf2'

232618

Institutional Source

Beutler Lab

Gene Symbol

Gigyf2

Ensembl Gene

ENSMUSG00000048000

Gene Name

GRB10 interacting GYF protein 2

Synonyms

2610016F01Rik, Tnrc15, A830080H02Rik

MMRRC Submission

040116-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.939) question?

Stock #

R2112 (G1)

Quality Score

225

Status

Not 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: 98.6%
10x: 97.3%
20x: 95.1%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1b	A	G	5: 121,638,777 (GRCm39)		probably benign	Het
Adprhl1	A	G	8: 13,298,694 (GRCm39)	Y79H	probably damaging	Het
Ambra1	T	A	2: 91,706,132 (GRCm39)	W746R	probably damaging	Het
Ankhd1	A	T	18: 36,774,679 (GRCm39)	K1420I	probably damaging	Het
Ap1b1	T	C	11: 4,965,613 (GRCm39)	F51L	probably damaging	Het
Arhgap24	A	C	5: 103,040,366 (GRCm39)	R434S	probably damaging	Het
Arhgap29	T	C	3: 121,805,210 (GRCm39)	L525P	probably benign	Het
Arpc1b	T	C	5: 145,060,579 (GRCm39)	Y124H	probably damaging	Het
Arr3	T	A	X: 99,658,247 (GRCm39)	F269L	possibly damaging	Het
Atp11b	G	T	3: 35,891,677 (GRCm39)	V830F	probably damaging	Het
Ccdc71l	T	A	12: 32,429,229 (GRCm39)	F83I	probably damaging	Het
Cdh23	G	T	10: 60,141,362 (GRCm39)	F3127L	probably damaging	Het
Cfap251	G	A	5: 123,392,438 (GRCm39)		probably benign	Het
Cldn15	T	A	5: 136,997,016 (GRCm39)	M19K	possibly damaging	Het
Cog4	A	G	8: 111,585,214 (GRCm39)	Y292C	possibly damaging	Het
Col12a1	A	G	9: 79,551,181 (GRCm39)	V2145A	possibly damaging	Het
Col5a3	T	C	9: 20,721,073 (GRCm39)	I110V	unknown	Het
Cps1	T	A	1: 67,216,139 (GRCm39)	D821E	probably benign	Het
Crnkl1	A	T	2: 145,772,617 (GRCm39)	Y153*	probably null	Het
Dock10	T	A	1: 80,483,359 (GRCm39)	K2082M	probably damaging	Het
Dock10	T	C	1: 80,483,360 (GRCm39)	K2083E	probably damaging	Het
Dst	T	C	1: 34,208,259 (GRCm39)	S737P	probably damaging	Het
Dthd1	T	C	5: 63,000,222 (GRCm39)	S515P	probably damaging	Het
Dthd1	T	C	5: 62,979,251 (GRCm39)	Y304H	probably damaging	Het
Etf1	A	T	18: 35,042,154 (GRCm39)		probably null	Het
Fmnl2	A	G	2: 52,995,549 (GRCm39)	E424G	probably damaging	Het
Galt	A	G	4: 41,758,245 (GRCm39)	T337A	probably benign	Het
Gbp4	A	G	5: 105,283,042 (GRCm39)	L76P	possibly damaging	Het
Gcfc2	C	A	6: 81,900,759 (GRCm39)	D24E	probably benign	Het
Glg1	T	C	8: 111,919,178 (GRCm39)	D315G	probably damaging	Het
Gm4787	C	T	12: 81,424,607 (GRCm39)	C517Y	probably damaging	Het
Gnl3l	A	G	X: 149,780,290 (GRCm39)	S217P	probably damaging	Het
Gpr37	T	C	6: 25,669,380 (GRCm39)	Y488C	possibly damaging	Het
Hap1	T	C	11: 100,244,825 (GRCm39)	D240G	probably benign	Het
Hhla1	C	G	15: 65,808,232 (GRCm39)	W271S	probably benign	Het
Hmgxb3	T	C	18: 61,288,458 (GRCm39)	R470G	possibly damaging	Het
Inpp5a	A	G	7: 139,154,877 (GRCm39)	D332G	probably damaging	Het
Insr	A	G	8: 3,219,748 (GRCm39)	S925P	probably benign	Het
Isoc2b	T	A	7: 4,852,474 (GRCm39)	D171V	probably damaging	Het
Kif20b	T	C	19: 34,909,132 (GRCm39)	I223T	probably benign	Het
Krt6b	T	C	15: 101,586,999 (GRCm39)	T258A	possibly damaging	Het
Lipo4	G	A	19: 33,488,926 (GRCm39)	P219L	probably benign	Het
Luc7l	T	C	17: 26,474,101 (GRCm39)		probably null	Het
Madd	T	C	2: 91,007,321 (GRCm39)	K264E	possibly damaging	Het
Mcf2l	A	T	8: 13,051,867 (GRCm39)	K433N	probably damaging	Het
Mob3b	A	T	4: 35,083,795 (GRCm39)	N131K	probably damaging	Het
Mtus1	G	T	8: 41,475,608 (GRCm39)	P819T	probably damaging	Het
Myo15a	T	C	11: 60,384,994 (GRCm39)	F1699L	probably damaging	Het
Nav1	C	T	1: 135,376,742 (GRCm39)	R1694Q	probably damaging	Het
Neb	G	C	2: 52,218,776 (GRCm39)	T78S	probably damaging	Het
Nek2	T	C	1: 191,559,320 (GRCm39)	V275A	probably benign	Het
Nfatc1	A	T	18: 80,678,879 (GRCm39)	C836*	probably null	Het
Nos1	T	C	5: 118,074,636 (GRCm39)	V1060A	probably benign	Het
Notch3	T	A	17: 32,363,584 (GRCm39)	I1160F	probably benign	Het
Nox4	T	C	7: 87,021,216 (GRCm39)	L476P	probably damaging	Het
Npc1	A	T	18: 12,346,529 (GRCm39)	N222K	possibly damaging	Het
Nrn1l	C	A	8: 106,621,378 (GRCm39)	H109Q	possibly damaging	Het
Or4c11	T	C	2: 88,695,545 (GRCm39)	S199P	possibly damaging	Het
Or4k15	G	T	14: 50,364,080 (GRCm39)	L15F	probably damaging	Het
Or6d13	T	C	6: 116,517,611 (GRCm39)	Y66H	possibly damaging	Het
Or7a41	T	C	10: 78,871,248 (GRCm39)	L206P	probably damaging	Het
Or8g27	T	C	9: 39,129,075 (GRCm39)	Y141H	probably benign	Het
Or8g33	C	A	9: 39,337,966 (GRCm39)	V134L	probably benign	Het
Pcnt	T	C	10: 76,256,360 (GRCm39)	K627E	probably damaging	Het
Plch1	T	A	3: 63,630,227 (GRCm39)	T514S	probably damaging	Het
Ppargc1b	G	A	18: 61,444,321 (GRCm39)	P297S	probably benign	Het
Ppig	A	G	2: 69,580,451 (GRCm39)	T662A	unknown	Het
Prdm2	A	C	4: 142,858,506 (GRCm39)	S1595A	probably benign	Het
Ptpn5	T	A	7: 46,732,890 (GRCm39)	T318S	probably benign	Het
Ralgps2	A	G	1: 156,660,278 (GRCm39)	Y265H	probably damaging	Het
Seh1l	T	C	18: 67,920,249 (GRCm39)	I182T	probably damaging	Het
Slc12a6	T	C	2: 112,186,830 (GRCm39)	I943T	probably damaging	Het
Slc5a5	A	T	8: 71,342,395 (GRCm39)		probably null	Het
Sparcl1	T	A	5: 104,236,289 (GRCm39)	Q488L	probably damaging	Het
Sphkap	T	G	1: 83,253,602 (GRCm39)	K1382N	probably benign	Het
Sybu	T	C	15: 44,536,731 (GRCm39)	S532G	probably benign	Het
Syde2	G	A	3: 145,704,241 (GRCm39)	G131S	possibly damaging	Het
Taok1	C	T	11: 77,462,472 (GRCm39)	V206I	probably benign	Het
Tas1r2	G	T	4: 139,382,666 (GRCm39)	M101I	probably benign	Het
Trpc6	C	T	9: 8,656,613 (GRCm39)	T680I	probably damaging	Het
Trub1	T	C	19: 57,473,646 (GRCm39)		probably null	Het
Tspan1	G	T	4: 116,020,885 (GRCm39)		probably null	Het
Ttc28	G	A	5: 111,424,139 (GRCm39)	E1438K	probably damaging	Het
Ubr3	A	G	2: 69,808,136 (GRCm39)	T1206A	possibly damaging	Het
Ulbp3	C	T	10: 3,076,459 (GRCm39)		noncoding transcript	Het
Usp40	A	G	1: 87,877,936 (GRCm39)	I1117T	probably benign	Het
Usp43	G	T	11: 67,812,536 (GRCm39)	N113K	probably damaging	Het
Vcan	T	A	13: 89,841,422 (GRCm39)	D414V	probably damaging	Het
Vmn1r202	T	A	13: 22,685,904 (GRCm39)	Y171F	possibly damaging	Het
Zfp142	A	G	1: 74,612,795 (GRCm39)	S451P	probably damaging	Het
Zfp516	A	G	18: 82,975,536 (GRCm39)	D578G	probably damaging	Het
Zfp90	G	A	8: 107,152,120 (GRCm39)	C611Y	probably damaging	Het
Zfp954	A	G	7: 7,118,609 (GRCm39)	C312R	probably damaging	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
R2111: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'- TGCAGGTACCACCAAGTCTC -3'
(R):5'- ATGAGCCCTACCTGAGACTG -3'

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

Posted On

2014-09-18