Mutagenetix > Incidental Mutation

Incidental Mutation 'R8552:Gigyf1'

659900

Institutional Source

Beutler Lab

Gene Symbol

Gigyf1

Ensembl Gene

ENSMUSG00000029714

Gene Name

GRB10 interacting GYF protein 1

Synonyms

Perq1

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.470) question?

Stock #

R8552 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

137516810-137526197 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to T at 137521401 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143670 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031726] [ENSMUST00000031727] [ENSMUST00000111038] [ENSMUST00000143495] [ENSMUST00000197624]

AlphaFold

Q99MR1

Predicted Effect

probably benign
Transcript: ENSMUST00000031726

SMART Domains

Protein: ENSMUSP00000031726
Gene: ENSMUSG00000029713

Domain	Start	End	E-Value	Type
low complexity region	3	17	N/A	INTRINSIC
WD40	44	83	1.05e-7	SMART
WD40	86	125	3.96e-3	SMART
WD40	132	170	1.57e-6	SMART
WD40	173	212	2.98e-7	SMART
WD40	215	254	2.1e-7	SMART
WD40	257	298	1.72e-3	SMART
WD40	301	340	2.04e-5	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000031727
AA Change: R580L

SMART Domains

Protein: ENSMUSP00000031727
Gene: ENSMUSG00000029714
AA Change: R580L

Domain	Start	End	E-Value	Type
low complexity region	17	32	N/A	INTRINSIC
low complexity region	69	87	N/A	INTRINSIC
low complexity region	114	129	N/A	INTRINSIC
low complexity region	253	269	N/A	INTRINSIC
low complexity region	323	352	N/A	INTRINSIC
low complexity region	360	379	N/A	INTRINSIC
coiled coil region	424	450	N/A	INTRINSIC
GYF	477	532	1.6e-25	SMART
low complexity region	534	543	N/A	INTRINSIC
low complexity region	553	576	N/A	INTRINSIC
low complexity region	597	613	N/A	INTRINSIC
coiled coil region	671	735	N/A	INTRINSIC
low complexity region	748	759	N/A	INTRINSIC
low complexity region	826	837	N/A	INTRINSIC
low complexity region	848	877	N/A	INTRINSIC
low complexity region	881	893	N/A	INTRINSIC
coiled coil region	957	984	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111038

SMART Domains

Protein: ENSMUSP00000106667
Gene: ENSMUSG00000029711

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:EPO_TPO	30	191	2.8e-69	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143495

SMART Domains

Protein: ENSMUSP00000126823
Gene: ENSMUSG00000029713

Domain	Start	End	E-Value	Type
Pfam:WD40	1	25	3.8e-3	PFAM
WD40	32	70	1.57e-6	SMART
WD40	73	112	2.98e-7	SMART
WD40	115	154	2.1e-7	SMART
WD40	157	198	1.72e-3	SMART
WD40	201	240	2.04e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000197624

SMART Domains

Protein: ENSMUSP00000143670
Gene: ENSMUSG00000029714

Domain	Start	End	E-Value	Type
low complexity region	17	32	N/A	INTRINSIC
low complexity region	69	87	N/A	INTRINSIC
low complexity region	114	129	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg2	A	G	6: 58,646,210 (GRCm39)	H242R	possibly damaging	Het
Adam1b	G	T	5: 121,639,504 (GRCm39)	R514S	probably benign	Het
Adprs	A	G	4: 126,210,368 (GRCm39)	*371Q	probably null	Het
Arid4a	T	C	12: 71,106,849 (GRCm39)	L307P	probably benign	Het
Armc12	C	T	17: 28,757,675 (GRCm39)	A269V	probably benign	Het
Asb1	T	A	1: 91,480,078 (GRCm39)	V259E	probably damaging	Het
Atm	T	C	9: 53,435,797 (GRCm39)	Y171C	probably damaging	Het
Atp8a2	A	T	14: 60,011,431 (GRCm39)	F959L	probably benign	Het
B4galt3	G	T	1: 171,101,917 (GRCm39)	E34D	possibly damaging	Het
Cacna1i	A	G	15: 80,204,598 (GRCm39)	N90S	possibly damaging	Het
Cdc42ep2	T	A	19: 5,968,060 (GRCm39)	*215L	probably null	Het
Cep162	C	T	9: 87,126,361 (GRCm39)	E184K	probably benign	Het
Cnga3	C	T	1: 37,284,060 (GRCm39)	P121L	probably benign	Het
Cpt1b	G	A	15: 89,306,524 (GRCm39)	R285C	probably damaging	Het
Defb18	T	C	1: 18,306,791 (GRCm39)	Y55C	probably damaging	Het
Depdc1b	C	T	13: 108,493,959 (GRCm39)	P116S	probably damaging	Het
Dhx16	C	T	17: 36,192,183 (GRCm39)	A74V	possibly damaging	Het
Dnajc21	A	T	15: 10,464,005 (GRCm39)	Y53*	probably null	Het
Dse	T	C	10: 34,028,316 (GRCm39)	R925G	possibly damaging	Het
Dsp	C	T	13: 38,369,117 (GRCm39)	L738F	probably damaging	Het
Erv3	T	C	2: 131,698,261 (GRCm39)	K33E	possibly damaging	Het
Gas2l2	T	A	11: 83,312,907 (GRCm39)	T802S	probably benign	Het
Gdf9	T	C	11: 53,324,378 (GRCm39)	L49S	possibly damaging	Het
Gm4792	T	A	10: 94,131,061 (GRCm39)	I83L	unknown	Het
Ighv9-3	A	G	12: 114,104,349 (GRCm39)	L105P	probably damaging	Het
Krtap5-1	C	A	7: 141,850,160 (GRCm39)	W189L	probably null	Het
Krtap5-3	T	A	7: 141,756,089 (GRCm39)		probably benign	Het
Lrp1b	T	A	2: 41,298,993 (GRCm39)	E108D	probably benign	Het
Lrrc66	G	A	5: 73,768,228 (GRCm39)	P238S	probably benign	Het
Ms4a4c	C	T	19: 11,392,196 (GRCm39)	Q6*	probably null	Het
Or5b97	A	G	19: 12,879,096 (GRCm39)	L16P	probably damaging	Het
Or6d14	G	T	6: 116,534,289 (GRCm39)	R301L	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pinx1	A	G	14: 64,156,972 (GRCm39)	R300G	probably benign	Het
Pkd1	T	A	17: 24,810,443 (GRCm39)	H92Q	probably damaging	Het
Rad54l2	T	A	9: 106,570,777 (GRCm39)	Q1181L	possibly damaging	Het
Rbl1	A	T	2: 157,038,174 (GRCm39)	V131E	probably damaging	Het
Rbp3	A	G	14: 33,677,621 (GRCm39)	E523G	probably benign	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Slc22a20	C	A	19: 6,035,698 (GRCm39)	C130F	probably damaging	Het
Smcr8	T	C	11: 60,670,979 (GRCm39)	L709S	probably damaging	Het
Spef2	A	G	15: 9,600,765 (GRCm39)		probably benign	Het
Teddm1b	T	A	1: 153,750,194 (GRCm39)	M1K	probably null	Het
Tes	A	G	6: 17,097,327 (GRCm39)	Y60C	probably damaging	Het
Tmem104	T	C	11: 115,088,144 (GRCm39)	L43P	probably damaging	Het
Tnfaip3	T	C	10: 18,880,213 (GRCm39)	E618G	probably damaging	Het
Tnfaip3	T	C	10: 18,880,414 (GRCm39)	D551G	probably damaging	Het
Tnrc6a	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	7: 122,761,669 (GRCm39)		probably benign	Het
Trim30b	T	A	7: 104,015,236 (GRCm39)	T51S	probably benign	Het
Trmt44	G	T	5: 35,722,744 (GRCm39)	H441Q	probably benign	Het
Tshr	C	A	12: 91,504,059 (GRCm39)	D332E	probably benign	Het
Usp10	C	T	8: 120,683,367 (GRCm39)	T746M	possibly damaging	Het
Vmn1r8	A	T	6: 57,013,138 (GRCm39)	D63V	possibly damaging	Het
Vps13a	A	C	19: 16,731,684 (GRCm39)	L143V	probably damaging	Het
Wnt3a	T	A	11: 59,166,043 (GRCm39)	H79L	probably damaging	Het
Zbtb7a	C	T	10: 80,980,141 (GRCm39)	R112W	probably damaging	Het

Other mutations in Gigyf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Gigyf1	APN	5	137,521,007 (GRCm39)	unclassified	probably benign
IGL00326:Gigyf1	APN	5	137,517,210 (GRCm39)	utr 5 prime	probably benign
IGL00935:Gigyf1	APN	5	137,523,096 (GRCm39)	missense	possibly damaging	0.95
IGL01717:Gigyf1	APN	5	137,523,953 (GRCm39)	missense	probably damaging	1.00
IGL02090:Gigyf1	APN	5	137,523,826 (GRCm39)	splice site	probably null
IGL02354:Gigyf1	APN	5	137,517,989 (GRCm39)	splice site	probably benign
IGL02361:Gigyf1	APN	5	137,517,989 (GRCm39)	splice site	probably benign
IGL03370:Gigyf1	APN	5	137,523,952 (GRCm39)	missense	possibly damaging	0.93
PIT4354001:Gigyf1	UTSW	5	137,522,366 (GRCm39)	missense	unknown
R1415:Gigyf1	UTSW	5	137,517,478 (GRCm39)	splice site	probably null
R1764:Gigyf1	UTSW	5	137,520,770 (GRCm39)	unclassified	probably benign
R2259:Gigyf1	UTSW	5	137,518,594 (GRCm39)	missense	possibly damaging	0.93
R2260:Gigyf1	UTSW	5	137,518,594 (GRCm39)	missense	possibly damaging	0.93
R4656:Gigyf1	UTSW	5	137,523,477 (GRCm39)	nonsense	probably null
R4717:Gigyf1	UTSW	5	137,523,494 (GRCm39)	missense	probably damaging	1.00
R4732:Gigyf1	UTSW	5	137,523,032 (GRCm39)	missense	probably benign	0.39
R4733:Gigyf1	UTSW	5	137,523,032 (GRCm39)	missense	probably benign	0.39
R4942:Gigyf1	UTSW	5	137,523,952 (GRCm39)	missense	possibly damaging	0.93
R5338:Gigyf1	UTSW	5	137,521,422 (GRCm39)	unclassified	probably benign
R5503:Gigyf1	UTSW	5	137,521,729 (GRCm39)	unclassified	probably benign
R5790:Gigyf1	UTSW	5	137,522,517 (GRCm39)	unclassified	probably benign
R5888:Gigyf1	UTSW	5	137,523,959 (GRCm39)	missense	probably damaging	1.00
R5955:Gigyf1	UTSW	5	137,521,769 (GRCm39)	splice site	probably null
R6544:Gigyf1	UTSW	5	137,523,321 (GRCm39)	missense	probably damaging	1.00
R7227:Gigyf1	UTSW	5	137,522,085 (GRCm39)	missense	unknown
R7493:Gigyf1	UTSW	5	137,523,795 (GRCm39)	missense	probably damaging	0.98
R7660:Gigyf1	UTSW	5	137,519,231 (GRCm39)	missense	probably benign	0.23
R7959:Gigyf1	UTSW	5	137,522,581 (GRCm39)	missense	probably damaging	1.00
R8026:Gigyf1	UTSW	5	137,523,740 (GRCm39)	missense	probably damaging	1.00
R8159:Gigyf1	UTSW	5	137,520,457 (GRCm39)	missense	unknown
R8936:Gigyf1	UTSW	5	137,523,469 (GRCm39)	missense	probably damaging	0.99
R9622:Gigyf1	UTSW	5	137,522,926 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGCTGGGCATACTCACACAG -3'
(R):5'- GGTACTGCTCTCTTGTAGCC -3'

Sequencing Primer
(F):5'- GTGCTCTGACCTCCCACAG -3'
(R):5'- TCCTCTGCCTCACAACAGG -3'

Posted On

2021-01-18