Mutagenetix > Incidental Mutation

Incidental Mutation 'R0197:Gemin6'

23521

Institutional Source

Beutler Lab

Gene Symbol

Gemin6

Ensembl Gene

ENSMUSG00000055760

Gene Name

gem nuclear organelle associated protein 6

Synonyms

MMRRC Submission

038456-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.745) question?

Stock #

R0197 (G1)

Quality Score

171

Status

Validated

Chromosome

Chromosomal Location

80224441-80228497 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 80228095 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 161 (H161Q)

Ref Sequence

ENSEMBL: ENSMUSP00000063554 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069486]

AlphaFold

Q9CX53

Predicted Effect

probably damaging
Transcript: ENSMUST00000069486
AA Change: H161Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000063554
Gene: ENSMUSG00000055760
AA Change: H161Q

Domain	Start	End	E-Value	Type
Pfam:Gemin6	1	166	9.7e-102	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156869

Meta Mutation Damage Score

0.1985

Coding Region Coverage

1x: 98.6%
3x: 97.3%
10x: 92.5%
20x: 75.9%

Validation Efficiency

97% (121/125)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 138,069,871 (GRCm38)	L1607P	probably damaging	Het
1700016H13Rik	T	C	5: 103,648,821 (GRCm38)	*118W	probably null	Het
Abcc2	A	T	19: 43,826,614 (GRCm38)	R1147*	probably null	Het
Acsbg3	A	T	17: 56,883,835 (GRCm38)	N468Y	probably benign	Het
Agap2	A	G	10: 127,091,702 (GRCm38)	T1131A	possibly damaging	Het
Aldh9a1	A	G	1: 167,361,847 (GRCm38)	D388G	probably damaging	Het
Ap3d1	G	T	10: 80,730,042 (GRCm38)	A97E	probably damaging	Het
Arhgef10	T	A	8: 14,962,636 (GRCm38)	V320E	probably damaging	Het
Baiap2l1	C	A	5: 144,266,010 (GRCm38)	V498L	probably damaging	Het
Bltp2	A	C	11: 78,269,704 (GRCm38)		probably benign	Het
Cdh2	T	C	18: 16,629,576 (GRCm38)	N437S	probably benign	Het
Cert1	T	A	13: 96,549,287 (GRCm38)	Y63N	probably benign	Het
Cfap119	T	C	7: 127,584,862 (GRCm38)	E261G	probably damaging	Het
Cfap20dc	C	T	14: 8,518,695 (GRCm38)	G254R	probably damaging	Het
Chd1	C	A	17: 15,725,431 (GRCm38)	N72K	probably benign	Het
Cstf2t	A	T	19: 31,084,626 (GRCm38)	M521L	probably benign	Het
Dlx5	T	C	6: 6,881,619 (GRCm38)	K90E	possibly damaging	Het
Dmp1	A	G	5: 104,207,630 (GRCm38)	E32G	possibly damaging	Het
Espnl	T	G	1: 91,344,489 (GRCm38)	Y524D	probably damaging	Het
Fam20c	T	C	5: 138,755,724 (GRCm38)	L30P	probably damaging	Het
Fat1	G	T	8: 45,026,553 (GRCm38)	A2879S	probably benign	Het
Gabrg1	A	T	5: 70,774,389 (GRCm38)	V337D	probably damaging	Het
Gart	C	A	16: 91,623,403 (GRCm38)	D851Y	possibly damaging	Het
Gcc1	T	C	6: 28,420,616 (GRCm38)	H234R	probably damaging	Het
Glt6d1	A	G	2: 25,794,070 (GRCm38)	I308T	probably benign	Het
Gm10320	T	C	13: 98,491,983 (GRCm38)	T7A	probably benign	Het
Gm10912	T	C	2: 104,066,530 (GRCm38)	S5P	probably benign	Het
Gmpr2	T	A	14: 55,672,735 (GRCm38)	D7E	possibly damaging	Het
Hc	A	G	2: 34,984,750 (GRCm38)	Y1620H	probably damaging	Het
Hoxa3	T	C	6: 52,170,143 (GRCm38)		probably benign	Het
Ift140	A	G	17: 25,090,933 (GRCm38)	T1105A	probably benign	Het
Kdr	G	T	5: 75,968,422 (GRCm38)	T188N	possibly damaging	Het
Lepr	A	T	4: 101,752,152 (GRCm38)	D312V	possibly damaging	Het
Mcm3	A	G	1: 20,810,105 (GRCm38)	V501A	probably damaging	Het
Mcur1	T	C	13: 43,545,740 (GRCm38)	Y267C	probably damaging	Het
Med13	T	A	11: 86,307,038 (GRCm38)	T736S	probably benign	Het
Med13l	T	C	5: 118,671,002 (GRCm38)		probably benign	Het
Mroh2a	G	C	1: 88,246,042 (GRCm38)	A871P	probably damaging	Het
Ndrg2	T	A	14: 51,907,003 (GRCm38)		probably benign	Het
Oas3	G	A	5: 120,756,145 (GRCm38)	R39C	probably damaging	Het
Onecut2	T	A	18: 64,341,472 (GRCm38)	S365T	possibly damaging	Het
Or13c25	G	A	4: 52,910,849 (GRCm38)	T315M	probably benign	Het
Or4c10	A	G	2: 89,930,201 (GRCm38)	T131A	probably benign	Het
Or4k48	C	T	2: 111,645,791 (GRCm38)	V69I	probably benign	Het
Or51e1	T	A	7: 102,709,995 (GRCm38)	H245Q	probably damaging	Het
Pds5b	C	A	5: 150,754,431 (GRCm38)	Q505K	probably benign	Het
Pramel22	C	T	4: 143,656,440 (GRCm38)	E70K	possibly damaging	Het
Rfx2	T	C	17: 56,803,722 (GRCm38)	Y88C	probably damaging	Het
Rpl6	T	C	5: 121,208,478 (GRCm38)	V214A	probably benign	Het
Samd3	T	A	10: 26,271,854 (GRCm38)	C476S	possibly damaging	Het
Sfi1	TCGC	TC	11: 3,146,254 (GRCm38)		probably null	Het
Shank1	C	T	7: 44,352,294 (GRCm38)	R1146W	unknown	Het
Smcr8	T	C	11: 60,778,115 (GRCm38)	Y30H	probably damaging	Het
Smpd4	T	A	16: 17,641,597 (GRCm38)		probably null	Het
Strip1	C	A	3: 107,614,613 (GRCm38)	D750Y	probably damaging	Het
Svep1	T	C	4: 58,070,851 (GRCm38)	K2312E	possibly damaging	Het
Taf1c	A	T	8: 119,599,983 (GRCm38)	I438N	probably damaging	Het
Tnfaip1	A	T	11: 78,530,014 (GRCm38)		probably benign	Het
Unc45b	T	A	11: 82,940,205 (GRCm38)	L797Q	possibly damaging	Het
Usp24	T	A	4: 106,407,133 (GRCm38)	W1754R	probably damaging	Het
Utp20	G	A	10: 88,777,516 (GRCm38)	P1301L	probably benign	Het
Vmn2r115	T	A	17: 23,359,781 (GRCm38)	S743T	probably damaging	Het
Vps41	T	G	13: 18,854,663 (GRCm38)		probably null	Het
Vps72	G	T	3: 95,122,583 (GRCm38)	L304F	probably damaging	Het
Wiz	A	T	17: 32,356,441 (GRCm38)	I907N	probably damaging	Het
Zfp521	T	C	18: 13,845,062 (GRCm38)	T765A	probably benign	Het
Zfp616	A	T	11: 74,085,674 (GRCm38)	H923L	probably damaging	Het
Zp2	A	T	7: 120,143,576 (GRCm38)		probably benign	Het

Other mutations in Gemin6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00953:Gemin6	APN	17	80,227,865 (GRCm38)	missense	possibly damaging	0.56
IGL02129:Gemin6	APN	17	80,227,926 (GRCm38)	missense	probably damaging	1.00
R0239:Gemin6	UTSW	17	80,225,710 (GRCm38)	missense	probably damaging	1.00
R0239:Gemin6	UTSW	17	80,225,710 (GRCm38)	missense	probably damaging	1.00
R0883:Gemin6	UTSW	17	80,228,095 (GRCm38)	missense	probably damaging	1.00
R1995:Gemin6	UTSW	17	80,227,985 (GRCm38)	missense	probably damaging	1.00
R4570:Gemin6	UTSW	17	80,228,069 (GRCm38)	nonsense	probably null
R4885:Gemin6	UTSW	17	80,227,898 (GRCm38)	missense	probably damaging	0.99
R5335:Gemin6	UTSW	17	80,225,755 (GRCm38)	missense	probably damaging	1.00
R5445:Gemin6	UTSW	17	80,227,749 (GRCm38)	missense	probably damaging	0.98
R5447:Gemin6	UTSW	17	80,227,749 (GRCm38)	missense	probably damaging	0.98
R5451:Gemin6	UTSW	17	80,227,749 (GRCm38)	missense	probably damaging	0.98
R5452:Gemin6	UTSW	17	80,227,749 (GRCm38)	missense	probably damaging	0.98
R5522:Gemin6	UTSW	17	80,227,749 (GRCm38)	missense	probably damaging	0.98
R5525:Gemin6	UTSW	17	80,227,749 (GRCm38)	missense	probably damaging	0.98
R5526:Gemin6	UTSW	17	80,227,749 (GRCm38)	missense	probably damaging	0.98
R7291:Gemin6	UTSW	17	80,227,775 (GRCm38)	missense	possibly damaging	0.61
R7576:Gemin6	UTSW	17	80,225,726 (GRCm38)	nonsense	probably null
R7845:Gemin6	UTSW	17	80,225,661 (GRCm38)	missense	probably benign	0.00
R8842:Gemin6	UTSW	17	80,225,686 (GRCm38)	missense	possibly damaging	0.88
R8862:Gemin6	UTSW	17	80,228,003 (GRCm38)	missense	probably damaging	1.00
R9203:Gemin6	UTSW	17	80,227,808 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGGAGACTGTAAAGGATACAGCCCC -3'
(R):5'- TCACAGAGGCACTGCTCTTGTACC -3'

Sequencing Primer
(F):5'- ATACAGCCCCGAGGATCTG -3'
(R):5'- TGTACCTTCAATTCCTAAGGAACC -3'

Posted On

2013-04-16