Mutagenetix > Incidental Mutation

Incidental Mutation 'R4885:Gemin6'

375672

Institutional Source

Beutler Lab

Gene Symbol

Gemin6

Ensembl Gene

ENSMUSG00000055760

Gene Name

gem nuclear organelle associated protein 6

Synonyms

MMRRC Submission

042851-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.770) question?

Stock #

R4885 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80224441-80228497 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 80227898 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 96 (E96K)

Ref Sequence

ENSEMBL: ENSMUSP00000063554 (fasta)

Gene Model

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

AlphaFold

Q9CX53

Predicted Effect

probably damaging
Transcript: ENSMUST00000069486
AA Change: E96K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000063554
Gene: ENSMUSG00000055760
AA Change: E96K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156869

Meta Mutation Damage Score

0.3844

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.6%

Validation Efficiency

99% (77/78)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	A	G	16: 20,551,675	T317A	probably benign	Het
Adck1	G	A	12: 88,441,095	A199T	probably benign	Het
Adgrb1	A	T	15: 74,572,162	M1038L	probably benign	Het
Anapc10	C	T	8: 79,729,150	T76I	probably benign	Het
Bptf	C	T	11: 107,074,648	S1177N	probably benign	Het
Bsn	A	T	9: 108,107,527	Y337*	probably null	Het
C77080	C	T	4: 129,224,445	R214Q	probably damaging	Het
C87499	T	A	4: 88,627,982	L374F	possibly damaging	Het
Ccl20	T	A	1: 83,117,859	V48E	possibly damaging	Het
Ccnl1	C	T	3: 65,956,899	D122N	probably damaging	Het
Chat	C	G	14: 32,454,610	G69A	probably damaging	Het
Cr2	T	A	1: 195,158,731	I418F	possibly damaging	Het
Dmxl1	G	C	18: 49,878,795	A1340P	probably damaging	Het
Eef2k	G	A	7: 120,891,932	R547Q	probably benign	Het
Eml2	G	A	7: 19,204,010	S793N	probably benign	Het
Enox1	T	A	14: 77,720,850	L632Q	probably damaging	Het
Fabp9	T	C	3: 10,194,678	K92E	probably damaging	Het
Fam214a	T	C	9: 75,006,367	L94P	probably damaging	Het
Fam234a	T	C	17: 26,213,585	H530R	probably benign	Het
Fancm	C	T	12: 65,102,643	Q728*	probably null	Het
Fgd3	G	A	13: 49,263,989	T666M	possibly damaging	Het
Foxs1	T	C	2: 152,932,381	M251V	probably benign	Het
Fsip2	A	T	2: 82,988,094	M4724L	probably benign	Het
Gfi1	C	A	5: 107,723,286	V80F	probably damaging	Het
Hectd1	A	G	12: 51,800,722	V442A	probably damaging	Het
Hist2h3b	G	T	3: 96,268,961	V90F	possibly damaging	Het
Ift80	A	G	3: 68,950,496	I272T	probably damaging	Het
Impact	C	G	18: 12,986,373	A214G	probably damaging	Het
Insl6	C	T	19: 29,325,156	E54K	probably benign	Het
Irak3	T	A	10: 120,182,681	D54V	probably damaging	Het
Itk	C	T	11: 46,336,344		probably null	Het
Ivl	A	T	3: 92,572,411	C116S	probably benign	Het
Kcnq4	G	A	4: 120,713,063	A361V	probably benign	Het
L1td1	C	T	4: 98,737,311	P581L	probably benign	Het
Lrp1b	T	C	2: 41,468,893	E656G	probably benign	Het
Macrod2	A	G	2: 140,420,065	T89A	possibly damaging	Het
Mettl13	T	C	1: 162,537,268	D514G	probably damaging	Het
Mfsd13b	A	T	7: 120,991,488	I151F	possibly damaging	Het
Mical3	G	A	6: 120,935,253	P1882S	probably damaging	Het
Mycbp2	T	C	14: 103,145,946	E394G	possibly damaging	Het
Myo16	T	A	8: 10,438,892	S688T	probably damaging	Het
Neb	T	C	2: 52,286,046	Y1467C	probably damaging	Het
Nkx6-3	C	A	8: 23,153,898	P105Q	possibly damaging	Het
Nlrp1b	T	C	11: 71,217,884	T264A	possibly damaging	Het
Nnat	G	A	2: 157,561,758	C122Y	probably damaging	Het
Notch3	G	A	17: 32,141,377	R1527C	probably damaging	Het
Olfr1388	C	T	11: 49,444,622	T257I	probably damaging	Het
Olfr186	A	G	16: 59,027,155	Y251H	probably damaging	Het
Olfr262	T	G	19: 12,240,718		probably null	Het
Pds5b	C	T	5: 150,716,462	T14I	probably benign	Het
Phf19	A	T	2: 34,899,706	I334N	probably damaging	Het
Pik3ap1	T	C	19: 41,375,926	D118G	probably benign	Het
Pkhd1	T	A	1: 20,070,488	E3886V	possibly damaging	Het
Pkp1	A	G	1: 135,918,952	S21P	possibly damaging	Het
Rack1	C	A	11: 48,805,636	A290E	probably damaging	Het
Rbm15	A	G	3: 107,332,254	V276A	probably benign	Het
Rnf216	A	T	5: 143,090,580	L183*	probably null	Het
Sc5d	T	C	9: 42,255,626	I206V	probably benign	Het
Scpep1	A	G	11: 88,935,911	I233T	probably benign	Het
Sh3pxd2a	A	G	19: 47,268,693	Y529H	probably damaging	Het
Slc1a4	A	C	11: 20,304,384	V494G	probably damaging	Het
Slc38a7	T	C	8: 95,848,602	T17A	probably benign	Het
Smg6	T	C	11: 75,041,918	S73P	probably damaging	Het
Stk32b	T	C	5: 37,466,797	Y202C	probably damaging	Het
Tas2r137	A	G	6: 40,491,400	S55G	probably damaging	Het
Tcf12	C	T	9: 71,858,840	G504S	probably null	Het
Ttc3	T	C	16: 94,419,465	I568T	probably damaging	Het
Ttc3	G	C	16: 94,426,831		probably null	Het
Ttc41	T	G	10: 86,759,102	N913K	possibly damaging	Het
Vrk1	G	A	12: 106,057,972	V236M	probably damaging	Het
Wscd1	C	T	11: 71,760,146	R100C	probably damaging	Het
Zc3h18	C	T	8: 122,401,706		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
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
R7576:Gemin6	UTSW	17	80225726	nonsense	probably null
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'- GATGGATGCTCTCATTCCATTGC -3'
(R):5'- TCGGGACAGAATGATCTCATTGG -3'

Sequencing Primer
(F):5'- ACAAATCTGCTCTGAACTTCCTTTG -3'
(R):5'- CAGAATGATCTCATTGGAGCTGC -3'

Posted On

2016-03-17