Mutagenetix > Incidental Mutation

Incidental Mutation 'R9495:Gemin4'

717175

Institutional Source

Beutler Lab

Gene Symbol

Gemin4

Ensembl Gene

ENSMUSG00000049396

Gene Name

gem nuclear organelle associated protein 4

Synonyms

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R9495 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76210571-76217664 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76210923 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1004 (L1004P)

Ref Sequence

ENSEMBL: ENSMUSP00000099558 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094014] [ENSMUST00000102500] [ENSMUST00000129853] [ENSMUST00000169560] [ENSMUST00000169701]

AlphaFold

Q6P6L6

Predicted Effect

probably benign
Transcript: ENSMUST00000094014

SMART Domains

Protein: ENSMUSP00000091553
Gene: ENSMUSG00000069808

Domain	Start	End	E-Value	Type
transmembrane domain	4	26	N/A	INTRINSIC
TLC	33	249	7.47e-34	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000102500
AA Change: L1004P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000129853

SMART Domains

Protein: ENSMUSP00000114936
Gene: ENSMUSG00000069808

Domain	Start	End	E-Value	Type
TLC	1	166	6.2e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169560

SMART Domains

Protein: ENSMUSP00000131151
Gene: ENSMUSG00000069808

Domain	Start	End	E-Value	Type
transmembrane domain	4	26	N/A	INTRINSIC
TLC	33	217	4.92e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169701

SMART Domains

Protein: ENSMUSP00000131174
Gene: ENSMUSG00000017286

Domain	Start	End	E-Value	Type
Pfam:Glyoxalase_2	143	256	2.7e-8	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is part of a large complex localized to the cytoplasm, nucleoli, and to discrete nuclear bodies called Gemini bodies (gems). The complex functions in spliceosomal snRNP assembly in the cytoplasm, and regenerates spliceosomes required for pre-mRNA splicing in the nucleus. The encoded protein directly interacts with a DEAD box protein and several spliceosome core proteins. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele die before E5.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029J07Rik	C	T	8: 45,956,421	S287N	probably damaging	Het
1700088E04Rik	T	A	15: 79,135,642	D158V	probably benign	Het
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 29,247,623		probably benign	Het
Acp5	G	A	9: 22,127,187	Q273*	probably null	Het
Apoa5	G	C	9: 46,270,646	R340P	probably damaging	Het
Atp2b1	T	A	10: 98,999,798	N468K	probably damaging	Het
Bphl	A	T	13: 34,050,329	I143L	probably benign	Het
C130079G13Rik	T	C	3: 59,932,693	I62T	possibly damaging	Het
Ccdc58	A	G	16: 36,072,121	E12G	probably benign	Het
Cd33	A	T	7: 43,532,726	H98Q	probably benign	Het
Celsr1	G	T	15: 86,033,085	S229*	probably null	Het
Colec10	A	G	15: 54,462,365	D197G	probably damaging	Het
Cpt1a	T	C	19: 3,383,795	M759T	probably benign	Het
Ctc1	A	G	11: 69,022,767	Y165C	probably damaging	Het
Cyp2t4	G	A	7: 27,155,292	V66M	possibly damaging	Het
Dnah2	T	C	11: 69,454,382	D2667G	possibly damaging	Het
Dok1	T	C	6: 83,032,991	K46E	probably damaging	Het
Erv3	C	A	2: 131,856,055	W128L	possibly damaging	Het
Fam186a	A	G	15: 99,946,885	S493P	unknown	Het
Fbn1	A	T	2: 125,319,064	N2185K	probably damaging	Het
Figla	A	C	6: 86,020,707	H139P	probably benign	Het
Gm11937	T	C	11: 99,609,820	T124A	unknown	Het
Gm17669	G	T	18: 67,562,612	V76L	probably benign	Het
Gm8765	T	A	13: 50,701,429	S368T	possibly damaging	Het
Hcls1	A	T	16: 36,957,340	M274L	probably benign	Het
Hist2h2ab	A	G	3: 96,220,085	E57G	probably damaging	Het
Il17rc	T	C	6: 113,472,780	S116P	probably damaging	Het
Krt79	G	A	15: 101,931,853	R303C	probably damaging	Het
Lamb2	C	T	9: 108,480,807	T149I	probably damaging	Het
Lrrc41	T	A	4: 116,075,609		probably null	Het
Mga	C	A	2: 119,951,195	T2234K	possibly damaging	Het
Muc6	T	A	7: 141,651,133	Q205L	probably damaging	Het
Nlrp9b	A	T	7: 20,026,537	K624N	possibly damaging	Het
Olfr463	C	T	11: 87,893,256	V223M	probably benign	Het
Olfr49	T	C	14: 54,282,680	T72A	probably damaging	Het
Olfr99	G	T	17: 37,280,495		probably benign	Het
Otud4	T	C	8: 79,673,458	S934P	probably damaging	Het
Pcdha12	G	T	18: 37,022,473	W748C	probably damaging	Het
Pdc	T	C	1: 150,333,168	I134T	probably damaging	Het
Peg10	T	TCCC	6: 4,756,451		probably benign	Het
Pkn1	C	T	8: 83,684,170	R276Q	possibly damaging	Het
Plin3	C	A	17: 56,280,824	G297V	probably benign	Het
Podn	C	T	4: 108,018,909	V517I	probably benign	Het
Pomk	T	C	8: 25,983,316	D203G	probably damaging	Het
Ppil4	A	G	10: 7,799,591	D168G	probably damaging	Het
Ptgr2	T	C	12: 84,307,873	I276T	probably benign	Het
Ptk7	T	A	17: 46,576,818	I563F	possibly damaging	Het
Rbm12	G	T	2: 156,097,818	T178K	unknown	Het
Sctr	T	C	1: 120,031,673		probably null	Het
Sh2b1	GGGACC	GGGACCGGCTCAGCCACGTGGACC	7: 126,467,572		probably benign	Het
Steap1	A	T	5: 5,736,458	D326E	probably damaging	Het
Stra6	G	A	9: 58,151,892	V513I	probably benign	Het
Tbx19	A	G	1: 165,138,977	S443P	unknown	Het
Tcea3	T	A	4: 136,264,574	C190S	probably damaging	Het
Tfr2	G	A	5: 137,574,439	V171I	probably benign	Het
Tm7sf3	C	T	6: 146,623,681	D89N	possibly damaging	Het
Tmem129	A	G	5: 33,657,778	V17A	probably benign	Het
Tmem2	T	A	19: 21,801,885	V353D	probably damaging	Het
Tmem87b	T	C	2: 128,818,433	L32P	probably damaging	Het
Tor1aip1	T	A	1: 156,030,431	D205V	probably damaging	Het
Trim33	T	C	3: 103,331,758	V684A	probably benign	Het
Triobp	C	T	15: 78,993,178	R1637C	probably damaging	Het
Uhrf1bp1	A	G	17: 27,893,440	D1201G	probably damaging	Het
Ulbp1	C	A	10: 7,456,371	M196I	probably benign	Het
Vash1	G	A	12: 86,691,889	G370E	probably damaging	Het
Vmn2r23	A	G	6: 123,712,713	T183A	probably benign	Het
Vta1	A	G	10: 14,655,839	I264T	probably benign	Het
Zcchc8	A	T	5: 123,700,570	M635K	probably benign	Het

Other mutations in Gemin4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01412:Gemin4	APN	11	76213485	missense	probably benign	0.16
IGL01654:Gemin4	APN	11	76213398	missense	probably damaging	1.00
IGL01656:Gemin4	APN	11	76213810	missense	probably damaging	1.00
IGL02890:Gemin4	APN	11	76211264	missense	probably damaging	1.00
IGL02967:Gemin4	APN	11	76212241	missense	probably damaging	1.00
R0359:Gemin4	UTSW	11	76212162	missense	probably benign	0.02
R0413:Gemin4	UTSW	11	76211322	missense	probably benign	0.00
R1538:Gemin4	UTSW	11	76211161	missense	probably benign	0.00
R1632:Gemin4	UTSW	11	76210989	missense	probably benign	0.26
R1762:Gemin4	UTSW	11	76211050	missense	probably damaging	1.00
R1783:Gemin4	UTSW	11	76211050	missense	probably damaging	1.00
R1784:Gemin4	UTSW	11	76211050	missense	probably damaging	1.00
R1785:Gemin4	UTSW	11	76211050	missense	probably damaging	1.00
R1786:Gemin4	UTSW	11	76211050	missense	probably damaging	1.00
R1835:Gemin4	UTSW	11	76213296	missense	possibly damaging	0.62
R2007:Gemin4	UTSW	11	76212618	missense	possibly damaging	0.78
R2117:Gemin4	UTSW	11	76211001	missense	possibly damaging	0.59
R2131:Gemin4	UTSW	11	76211050	missense	probably damaging	1.00
R2133:Gemin4	UTSW	11	76211050	missense	probably damaging	1.00
R2140:Gemin4	UTSW	11	76211050	missense	probably damaging	1.00
R2141:Gemin4	UTSW	11	76211050	missense	probably damaging	1.00
R2142:Gemin4	UTSW	11	76211050	missense	probably damaging	1.00
R3937:Gemin4	UTSW	11	76212888	missense	probably damaging	1.00
R4112:Gemin4	UTSW	11	76212819	missense	probably damaging	0.99
R4444:Gemin4	UTSW	11	76212091	missense	probably benign	0.00
R5502:Gemin4	UTSW	11	76213401	nonsense	probably null
R5702:Gemin4	UTSW	11	76210837	missense	probably benign	0.01
R5744:Gemin4	UTSW	11	76212165	missense	probably damaging	1.00
R6044:Gemin4	UTSW	11	76212934	missense	probably benign
R6924:Gemin4	UTSW	11	76212336	missense	probably damaging	1.00
R6931:Gemin4	UTSW	11	76210956	missense	probably damaging	0.99
R7278:Gemin4	UTSW	11	76212106	missense	probably damaging	0.98
R7286:Gemin4	UTSW	11	76212753	missense	probably damaging	0.96
R7288:Gemin4	UTSW	11	76213380	missense	possibly damaging	0.60
R7358:Gemin4	UTSW	11	76213452	nonsense	probably null
R7572:Gemin4	UTSW	11	76213582	missense	probably damaging	1.00
R8132:Gemin4	UTSW	11	76212913	missense	probably benign	0.25
R8345:Gemin4	UTSW	11	76210779	missense	probably damaging	1.00
R8695:Gemin4	UTSW	11	76211830	missense	probably damaging	1.00
R8902:Gemin4	UTSW	11	76212022	nonsense	probably null
R9233:Gemin4	UTSW	11	76213116	missense	possibly damaging	0.92
Z1176:Gemin4	UTSW	11	76217579	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- GAGGCATAGTTTTGTTCTGCCC -3'
(R):5'- GAGCCATGTGGTCAAACTCC -3'

Sequencing Primer
(F):5'- CCCTCAACAGGTCAGAAGTTGTTG -3'
(R):5'- GTGGTCAAACTCCTCTGTAACAG -3'

Posted On

2022-07-18