Mutagenetix > Incidental Mutation

Incidental Mutation 'R1367:Gid8'

156062

Institutional Source

Beutler Lab

Gene Symbol

Gid8

Ensembl Gene

ENSMUSG00000027573

Gene Name

GID complex subunit 8

Synonyms

2310003C23Rik, 4833420G11Rik

MMRRC Submission

039432-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.938) question?

Stock #

R1367 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

180351910-180360526 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 180355025 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 10 (I10M)

Ref Sequence

ENSEMBL: ENSMUSP00000077753 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029090] [ENSMUST00000078687] [ENSMUST00000103055] [ENSMUST00000103057]

AlphaFold

Q9D7M1

Predicted Effect

probably benign
Transcript: ENSMUST00000029090
AA Change: I10M

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000029090
Gene: ENSMUSG00000027573
AA Change: I10M

Domain	Start	End	E-Value	Type
LisH	25	57	5.89e-9	SMART
CTLH	63	120	6.06e-20	SMART
CRA	116	212	8.11e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000078687
AA Change: I10M

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000077753
Gene: ENSMUSG00000027573
AA Change: I10M

Domain	Start	End	E-Value	Type
LisH	25	57	5.89e-9	SMART
CTLH	63	120	6.06e-20	SMART
CRA	116	212	8.11e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000103055

SMART Domains

Protein: ENSMUSP00000099344
Gene: ENSMUSG00000038914

Domain	Start	End	E-Value	Type
low complexity region	134	155	N/A	INTRINSIC
PHD	267	317	1.19e-11	SMART
low complexity region	430	446	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000103057

SMART Domains

Protein: ENSMUSP00000099346
Gene: ENSMUSG00000038914

Domain	Start	End	E-Value	Type
low complexity region	134	155	N/A	INTRINSIC
PHD	267	317	1.19e-11	SMART
low complexity region	430	446	N/A	INTRINSIC
TFS2M	669	770	1.16e-45	SMART
low complexity region	937	962	N/A	INTRINSIC
low complexity region	1023	1037	N/A	INTRINSIC
Pfam:SPOC	1052	1158	4.7e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150067

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.8%
3x: 97.6%
10x: 94.2%
20x: 86.6%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	C	16: 14,261,250 (GRCm39)	V676A	probably damaging	Het
Acvr1b	T	C	15: 101,091,819 (GRCm39)	L33P	possibly damaging	Het
Adamts12	T	G	15: 11,256,980 (GRCm39)		probably benign	Het
Ank1	T	A	8: 23,601,819 (GRCm39)		probably benign	Het
Arhgef10	T	A	8: 14,990,225 (GRCm39)	D233E	probably damaging	Het
Cd209e	T	C	8: 3,899,084 (GRCm39)	*209W	probably null	Het
Cebpz	A	G	17: 79,230,742 (GRCm39)	V825A	probably benign	Het
Cep170	A	G	1: 176,563,290 (GRCm39)	F1575L	probably damaging	Het
Exoc2	A	T	13: 31,066,256 (GRCm39)	Y473*	probably null	Het
F3	A	G	3: 121,523,023 (GRCm39)	T78A	probably damaging	Het
Fanca	G	A	8: 124,031,020 (GRCm39)		probably benign	Het
Gga2	G	A	7: 121,598,138 (GRCm39)	R319*	probably null	Het
Glrb	A	G	3: 80,769,311 (GRCm39)	W139R	probably damaging	Het
H2-M1	A	G	17: 36,982,059 (GRCm39)	S181P	probably benign	Het
Hectd3	G	T	4: 116,854,367 (GRCm39)	V310L	probably null	Het
Insyn1	G	T	9: 58,406,263 (GRCm39)	D58Y	probably damaging	Het
Kif17	C	A	4: 138,005,305 (GRCm39)	S290*	probably null	Het
Kif26b	A	G	1: 178,744,028 (GRCm39)	N1375D	probably damaging	Het
Lgr4	C	G	2: 109,821,480 (GRCm39)	P121A	probably damaging	Het
Ly75	A	G	2: 60,124,102 (GRCm39)		probably null	Het
Mfsd13a	C	T	19: 46,354,943 (GRCm39)	T40I	probably benign	Het
Nek3	T	C	8: 22,650,377 (GRCm39)		probably benign	Het
Nin	A	T	12: 70,090,703 (GRCm39)	L904Q	probably damaging	Het
Nlrp14	A	G	7: 106,782,018 (GRCm39)	D405G	probably benign	Het
Nuak1	C	T	10: 84,228,192 (GRCm39)		probably benign	Het
Or5h23	T	A	16: 58,906,706 (GRCm39)	I47F	probably benign	Het
Plcg2	T	A	8: 118,341,977 (GRCm39)	W1113R	probably damaging	Het
Pms2	G	A	5: 143,862,731 (GRCm39)	V613M	probably damaging	Het
Prl3b1	G	A	13: 27,427,848 (GRCm39)	A53T	probably benign	Het
Pxk	T	G	14: 8,150,915 (GRCm38)		probably null	Het
Rasl10b	G	A	11: 83,308,665 (GRCm39)		probably null	Het
Rbm28	A	T	6: 29,137,639 (GRCm39)	I438N	probably damaging	Het
Rictor	T	C	15: 6,820,119 (GRCm39)		probably benign	Het
Slc41a1	A	G	1: 131,771,746 (GRCm39)	T387A	probably benign	Het
Slc44a2	T	C	9: 21,254,322 (GRCm39)	V228A	probably benign	Het
Slpi	A	G	2: 164,196,787 (GRCm39)		probably benign	Het
Tkfc	A	G	19: 10,570,838 (GRCm39)	S481P	probably benign	Het
Tll2	G	A	19: 41,108,667 (GRCm39)	R328C	probably damaging	Het
Tns3	T	C	11: 8,398,704 (GRCm39)	H1216R	probably benign	Het
Ugt2b38	A	T	5: 87,571,973 (GRCm39)	S20T	probably benign	Het
Usp48	T	A	4: 137,366,606 (GRCm39)	D921E	possibly damaging	Het
Usp48	T	A	4: 137,371,774 (GRCm39)	S967T	probably damaging	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,578,962 (GRCm39)		probably benign	Het
Zdhhc23	A	G	16: 43,794,513 (GRCm39)	S54P	probably benign	Het

Other mutations in Gid8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03139:Gid8	APN	2	180,356,501 (GRCm39)	missense	probably damaging	1.00
R0098:Gid8	UTSW	2	180,356,528 (GRCm39)	missense	possibly damaging	0.88
R0098:Gid8	UTSW	2	180,356,528 (GRCm39)	missense	possibly damaging	0.88
R0485:Gid8	UTSW	2	180,355,004 (GRCm39)	nonsense	probably null
R2156:Gid8	UTSW	2	180,358,751 (GRCm39)	missense	probably benign	0.20
R7002:Gid8	UTSW	2	180,355,096 (GRCm39)	missense	possibly damaging	0.90
R7358:Gid8	UTSW	2	180,359,779 (GRCm39)	missense	probably benign	0.03
R8432:Gid8	UTSW	2	180,356,654 (GRCm39)	missense	probably benign	0.10
R8877:Gid8	UTSW	2	180,358,710 (GRCm39)	missense	probably damaging	1.00
R9108:Gid8	UTSW	2	180,352,132 (GRCm39)	unclassified	probably benign
R9155:Gid8	UTSW	2	180,359,756 (GRCm39)	nonsense	probably null
R9533:Gid8	UTSW	2	180,358,713 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCACAGAGGAGTTGAAGACTCCA -3'
(R):5'- CTCCAGGGGTAAAGGGCCACTA -3'

Sequencing Primer
(F):5'- tcagaaatccgcctgcc -3'
(R):5'- CTAGTGTGAAAAGGGAGAGCTATG -3'

Posted On

2014-02-11