Mutagenetix > Incidental Mutation

Incidental Mutation 'R8862:Gemin6'

675747

Institutional Source

Beutler Lab

Gene Symbol

Gemin6

Ensembl Gene

ENSMUSG00000055760

Gene Name

gem nuclear organelle associated protein 6

Synonyms

2810470M17Rik, 2610019B15Rik

MMRRC Submission

068741-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.749) question?

Stock #

R8862 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80531870-80535926 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 80535432 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 131 (V131I)

Ref Sequence

ENSEMBL: ENSMUSP00000063554 (fasta)

Gene Model

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

AlphaFold

Q9CX53

Predicted Effect

probably damaging
Transcript: ENSMUST00000069486
AA Change: V131I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000063554
Gene: ENSMUSG00000055760
AA Change: V131I

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acin1	C	T	14: 54,901,172 (GRCm39)	G685R	probably benign	Het
Ahdc1	T	C	4: 132,791,129 (GRCm39)	F790S	possibly damaging	Het
Alg10b	T	C	15: 90,109,893 (GRCm39)	Y69H	probably damaging	Het
Amer3	A	T	1: 34,626,465 (GRCm39)	S235C	probably damaging	Het
Ankfy1	G	T	11: 72,644,469 (GRCm39)	S722I	probably benign	Het
Baz1a	T	C	12: 55,032,624 (GRCm39)		probably benign	Het
Ccdc177	A	G	12: 80,804,208 (GRCm39)	S689P	unknown	Het
Cdh24	C	A	14: 54,869,874 (GRCm39)	R681L	probably damaging	Het
Cdk14	T	G	5: 5,060,862 (GRCm39)	I338L	probably benign	Het
Clec2m	T	C	6: 129,308,494 (GRCm39)	T12A	probably benign	Het
Col18a1	G	T	10: 76,949,044 (GRCm39)	S156*	probably null	Het
Col6a6	T	C	9: 105,663,348 (GRCm39)	Y63C	probably damaging	Het
Cytip	G	A	2: 58,037,887 (GRCm39)	T159M	probably benign	Het
Dnah5	T	C	15: 28,459,502 (GRCm39)		probably benign	Het
Dock3	T	C	9: 106,855,927 (GRCm39)	Y744C	probably damaging	Het
Dop1a	T	C	9: 86,406,404 (GRCm39)		probably null	Het
Dse	A	T	10: 34,029,934 (GRCm39)	D385E	probably damaging	Het
Efhc1	A	C	1: 21,037,573 (GRCm39)	D250A		Het
Epha3	T	A	16: 63,431,348 (GRCm39)	T519S	probably benign	Het
Gas2l3	A	G	10: 89,250,282 (GRCm39)	Y279H	probably damaging	Het
Gatd3a	A	G	10: 78,005,461 (GRCm39)	S35P	probably damaging	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Gnai2	C	A	9: 107,512,326 (GRCm39)	A31S		Het
Greb1l	A	G	18: 10,555,042 (GRCm39)	D1696G	possibly damaging	Het
Itfg2	T	C	6: 128,394,668 (GRCm39)	E35G	probably damaging	Het
Kctd10	A	G	5: 114,503,921 (GRCm39)	F244L	probably damaging	Het
Kif19b	C	A	5: 140,472,534 (GRCm39)	P686Q	probably damaging	Het
Krtap5-1	ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG	ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG	7: 141,850,333 (GRCm39)		probably benign	Het
Lgals9	G	T	11: 78,860,716 (GRCm39)		probably benign	Het
Lrriq4	A	T	3: 30,705,088 (GRCm39)	N372I	probably damaging	Het
Mical2	A	G	7: 111,910,574 (GRCm39)	N248S	probably damaging	Het
Mipep	T	A	14: 61,080,689 (GRCm39)	C560*	probably null	Het
Myo1a	G	A	10: 127,548,653 (GRCm39)	V396M	probably benign	Het
Myod1	A	G	7: 46,026,487 (GRCm39)	T131A	probably damaging	Het
Nalcn	T	A	14: 123,647,199 (GRCm39)	D558V	possibly damaging	Het
Odf2l	T	A	3: 144,833,758 (GRCm39)		probably benign	Het
Or6d13	G	A	6: 116,518,186 (GRCm39)	M257I	probably benign	Het
Plbd2	A	T	5: 120,624,728 (GRCm39)	M480K	probably damaging	Het
Ppargc1a	A	G	5: 51,631,235 (GRCm39)	F465L	possibly damaging	Het
Ppp1r15b	A	T	1: 133,064,506 (GRCm39)	I659F	probably damaging	Het
Prune2	C	T	19: 17,097,510 (GRCm39)	L1005F	probably benign	Het
Pter	T	C	2: 12,985,341 (GRCm39)	S224P	probably damaging	Het
Ralgapa2	A	G	2: 146,266,731 (GRCm39)	I615T	probably benign	Het
Ror1	T	C	4: 100,191,715 (GRCm39)		probably null	Het
Rps2	A	G	17: 24,940,662 (GRCm39)	T259A	probably benign	Het
Rsf1	GCG	GCGACGGCGCCG	7: 97,229,114 (GRCm39)		probably benign	Het
S1pr4	G	A	10: 81,334,533 (GRCm39)	R314C	probably damaging	Het
Sema4f	A	T	6: 82,891,081 (GRCm39)	H575Q	probably benign	Het
Son	A	G	16: 91,453,734 (GRCm39)	D827G	probably damaging	Het
Sox8	A	T	17: 25,787,045 (GRCm39)	H219Q	possibly damaging	Het
Spink2	C	T	5: 77,357,615 (GRCm39)	D24N	probably benign	Het
Stard9	A	G	2: 120,534,099 (GRCm39)	D3452G	probably benign	Het
Syngr2	G	T	11: 117,703,507 (GRCm39)	D108Y	probably damaging	Het
Tardbp	G	A	4: 148,702,755 (GRCm39)	S403L	possibly damaging	Het
Tomm70a	T	C	16: 56,942,546 (GRCm39)	S108P	probably benign	Het
Ttc12	T	C	9: 49,351,515 (GRCm39)	T661A	probably benign	Het
Tubgcp6	A	G	15: 89,006,824 (GRCm39)	V66A	probably benign	Het
Unc13b	T	A	4: 43,235,207 (GRCm39)	L477Q	probably damaging	Het
Vmn1r77	T	A	7: 11,776,060 (GRCm39)	C279S	probably benign	Het
Vmn2r79	T	C	7: 86,645,712 (GRCm39)	S14P	probably benign	Het
Zan	T	C	5: 137,472,674 (GRCm39)	T72A	probably benign	Het
Zcchc2	A	G	1: 105,958,998 (GRCm39)	*1156W	probably null	Het
Zfp354c	A	T	11: 50,708,718 (GRCm39)	D26E	probably benign	Het

Other mutations in Gemin6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00953:Gemin6	APN	17	80,535,294 (GRCm39)	missense	possibly damaging	0.56
IGL02129:Gemin6	APN	17	80,535,355 (GRCm39)	missense	probably damaging	1.00
R0197:Gemin6	UTSW	17	80,535,524 (GRCm39)	missense	probably damaging	1.00
R0239:Gemin6	UTSW	17	80,533,139 (GRCm39)	missense	probably damaging	1.00
R0239:Gemin6	UTSW	17	80,533,139 (GRCm39)	missense	probably damaging	1.00
R0883:Gemin6	UTSW	17	80,535,524 (GRCm39)	missense	probably damaging	1.00
R1995:Gemin6	UTSW	17	80,535,414 (GRCm39)	missense	probably damaging	1.00
R4570:Gemin6	UTSW	17	80,535,498 (GRCm39)	nonsense	probably null
R4885:Gemin6	UTSW	17	80,535,327 (GRCm39)	missense	probably damaging	0.99
R5335:Gemin6	UTSW	17	80,533,184 (GRCm39)	missense	probably damaging	1.00
R5445:Gemin6	UTSW	17	80,535,178 (GRCm39)	missense	probably damaging	0.98
R5447:Gemin6	UTSW	17	80,535,178 (GRCm39)	missense	probably damaging	0.98
R5451:Gemin6	UTSW	17	80,535,178 (GRCm39)	missense	probably damaging	0.98
R5452:Gemin6	UTSW	17	80,535,178 (GRCm39)	missense	probably damaging	0.98
R5522:Gemin6	UTSW	17	80,535,178 (GRCm39)	missense	probably damaging	0.98
R5525:Gemin6	UTSW	17	80,535,178 (GRCm39)	missense	probably damaging	0.98
R5526:Gemin6	UTSW	17	80,535,178 (GRCm39)	missense	probably damaging	0.98
R7291:Gemin6	UTSW	17	80,535,204 (GRCm39)	missense	possibly damaging	0.61
R7576:Gemin6	UTSW	17	80,533,155 (GRCm39)	nonsense	probably null
R7845:Gemin6	UTSW	17	80,533,090 (GRCm39)	missense	probably benign	0.00
R8842:Gemin6	UTSW	17	80,533,115 (GRCm39)	missense	possibly damaging	0.88
R9203:Gemin6	UTSW	17	80,535,237 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCTGTGCAGACTGTGGAAAC -3'
(R):5'- AACCCTCATGTGCTTCTGATG -3'

Sequencing Primer
(F):5'- CTGTGCAGACTGTGGAAACCATAAG -3'
(R):5'- CTCATGTGCTTCTGATGTCTTG -3'

Posted On

2021-07-15