Mutagenetix > Incidental Mutation

Incidental Mutation 'R7576:Gemin6'

586457

Institutional Source

Beutler Lab

Gene Symbol

Gemin6

Ensembl Gene

ENSMUSG00000055760

Gene Name

gem nuclear organelle associated protein 6

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.770) question?

Stock #

R7576 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80224441-80228497 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 80225726 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 29 (Y29*)

Ref Sequence

ENSEMBL: ENSMUSP00000063554 (fasta)

Gene Model

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

AlphaFold

Q9CX53

Predicted Effect

probably null
Transcript: ENSMUST00000069486
AA Change: Y29*

SMART Domains

Protein: ENSMUSP00000063554
Gene: ENSMUSG00000055760
AA Change: Y29*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahdc1	A	T	4: 133,065,002	S1185C	possibly damaging	Het
Akap9	C	G	5: 3,968,745	H1109D	probably benign	Het
Alpk2	T	C	18: 65,306,816	D502G	possibly damaging	Het
Bcl2	A	G	1: 106,712,423	V153A	possibly damaging	Het
Brinp3	A	T	1: 146,901,563	S583C	probably damaging	Het
Calr4	A	T	4: 109,238,964	Q113L	probably benign	Het
Carm1	T	G	9: 21,586,536		probably null	Het
Ccdc30	A	G	4: 119,349,866	L353P	probably damaging	Het
Ccdc91	C	G	6: 147,590,459	Q280E	unknown	Het
Cdk5rap2	T	C	4: 70,266,872	T1114A	probably benign	Het
Enpep	T	A	3: 129,284,091	T626S	probably benign	Het
Epcam	T	C	17: 87,640,293	S64P	probably damaging	Het
Erc1	G	T	6: 119,824,760	P99T	possibly damaging	Het
Fastkd1	A	G	2: 69,694,644	L636S	probably damaging	Het
Fmn1	A	G	2: 113,365,008	D351G	unknown	Het
Fndc8	T	G	11: 82,897,574	S77A	probably damaging	Het
Gbp10	G	A	5: 105,236,149		probably benign	Het
Gja8	T	C	3: 96,919,893	E151G	probably benign	Het
Gje1	A	G	10: 14,716,757	Y94H	probably damaging	Het
Glt6d1	A	G	2: 25,814,122	F26S	probably benign	Het
Gltpd2	T	A	11: 70,519,480		probably null	Het
Gm10153	A	C	7: 142,190,122	C70G	unknown	Het
Gm28729	G	A	9: 96,494,357	T368M	probably damaging	Het
Gm4559	A	G	7: 142,273,940	C142R	unknown	Het
Golm1	T	C	13: 59,645,106	N195S	probably benign	Het
Hectd4	A	T	5: 121,349,459	S3506C	possibly damaging	Het
Hnrnpll	G	A	17: 80,044,514	S334L	possibly damaging	Het
Ighv7-3	A	T	12: 114,153,245	I99N	possibly damaging	Het
Igkv8-24	A	G	6: 70,217,018	S69P	not run	Het
Ilvbl	A	T	10: 78,583,697	H537L	possibly damaging	Het
Lama1	G	A	17: 67,782,041	G1569D		Het
Lin7b	A	T	7: 45,369,225	Y118*	probably null	Het
Mansc1	T	A	6: 134,610,711	S168C	possibly damaging	Het
Mast3	A	G	8: 70,781,194	V969A	probably damaging	Het
Muc4	C	T	16: 32,754,500	T1458I	probably benign	Het
Myh10	A	G	11: 68,802,166	E1429G	probably damaging	Het
Narfl	A	C	17: 25,778,970	T154P	probably damaging	Het
Neurod1	G	T	2: 79,454,345	Y231*	probably null	Het
Nrxn2	G	T	19: 6,531,510	E1492*	probably null	Het
Nwd2	A	G	5: 63,807,393	Q1440R	probably benign	Het
Olfr1038-ps	A	G	2: 86,122,376	Y151C	probably damaging	Het
Olfr1404	A	G	1: 173,215,971	T107A	probably benign	Het
Olfr5	T	A	7: 6,480,331	N275I	probably damaging	Het
Pacs1	T	A	19: 5,145,120	T479S	probably benign	Het
Pds5b	A	G	5: 150,778,261	K786E	probably damaging	Het
Pigp	A	G	16: 94,370,405	L9P	probably benign	Het
Plec	C	T	15: 76,187,746	R707Q	unknown	Het
Ppef2	T	A	5: 92,253,134	H9L	possibly damaging	Het
Ppid	T	A	3: 79,600,391	C296S	probably damaging	Het
Ppp2r5b	T	G	19: 6,228,484	E465A	possibly damaging	Het
Ppp4r4	A	G	12: 103,596,449	N559S	probably damaging	Het
Ptprt	T	C	2: 161,607,305	T873A	possibly damaging	Het
Rbpms	A	G	8: 33,866,388	V28A	probably damaging	Het
Retreg2	A	G	1: 75,144,688	M203V	probably damaging	Het
Rfx4	A	G	10: 84,863,349	E367G	probably damaging	Het
Robo1	C	T	16: 72,970,181	P414S	probably damaging	Het
Sac3d1	T	A	19: 6,116,148	E410D	probably damaging	Het
Scgb2b19	A	T	7: 33,279,786	C24S	possibly damaging	Het
She	T	C	3: 89,831,612	F37L	probably damaging	Het
Slc5a2	G	A	7: 128,265,805	V37I	probably damaging	Het
Smyd4	T	A	11: 75,390,206	D168E	probably benign	Het
Ssc5d	C	A	7: 4,928,573	P260T	probably damaging	Het
Steap2	A	G	5: 5,677,406	F310L	probably benign	Het
Tctn1	A	T	5: 122,248,008	I347N	probably damaging	Het
Tmtc2	A	G	10: 105,370,621	L271P	probably damaging	Het
Tns3	T	A	11: 8,541,192	M122L	possibly damaging	Het
Ubr7	T	G	12: 102,769,139	C286G	probably damaging	Het
Usp16	T	C	16: 87,479,300	S509P	probably benign	Het
Usp44	A	G	10: 93,846,428	T247A	probably damaging	Het
Vmn2r92	A	C	17: 18,167,359	M209L	probably benign	Het
Wdr34	C	T	2: 30,048,778	R31Q	probably benign	Het
Zc3h6	C	T	2: 129,014,553	P518S	probably damaging	Het
Zfp229	A	G	17: 21,745,299	H170R	probably damaging	Het
Zfp960	A	G	17: 17,087,965	T314A	probably benign	Het

Other mutations in Gemin6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00953:Gemin6	APN	17	80227865	missense	possibly damaging	0.56
IGL02129:Gemin6	APN	17	80227926	missense	probably damaging	1.00
R0197:Gemin6	UTSW	17	80228095	missense	probably damaging	1.00
R0239:Gemin6	UTSW	17	80225710	missense	probably damaging	1.00
R0239:Gemin6	UTSW	17	80225710	missense	probably damaging	1.00
R0883:Gemin6	UTSW	17	80228095	missense	probably damaging	1.00
R1995:Gemin6	UTSW	17	80227985	missense	probably damaging	1.00
R4570:Gemin6	UTSW	17	80228069	nonsense	probably null
R4885:Gemin6	UTSW	17	80227898	missense	probably damaging	0.99
R5335:Gemin6	UTSW	17	80225755	missense	probably damaging	1.00
R5445:Gemin6	UTSW	17	80227749	missense	probably damaging	0.98
R5447:Gemin6	UTSW	17	80227749	missense	probably damaging	0.98
R5451:Gemin6	UTSW	17	80227749	missense	probably damaging	0.98
R5452:Gemin6	UTSW	17	80227749	missense	probably damaging	0.98
R5522:Gemin6	UTSW	17	80227749	missense	probably damaging	0.98
R5525:Gemin6	UTSW	17	80227749	missense	probably damaging	0.98
R5526:Gemin6	UTSW	17	80227749	missense	probably damaging	0.98
R7291:Gemin6	UTSW	17	80227775	missense	possibly damaging	0.61
R7845:Gemin6	UTSW	17	80225661	missense	probably benign	0.00
R8842:Gemin6	UTSW	17	80225686	missense	possibly damaging	0.88
R8862:Gemin6	UTSW	17	80228003	missense	probably damaging	1.00
R9203:Gemin6	UTSW	17	80227808	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GAATGGCGATCATTAAGACATTTGC -3'
(R):5'- CAGCAGCAGTTAGGCTCAAAAG -3'

Sequencing Primer
(F):5'- CTGACTGCTATTCCAAAGGTTCAGAG -3'
(R):5'- GCAATTATTATGTGTGAATGACCAG -3'

Posted On

2019-10-24