Mutagenetix > Incidental Mutation

Incidental Mutation 'R9233:Gemin4'

700371

Institutional Source

Beutler Lab

Gene Symbol

Gemin4

Ensembl Gene

ENSMUSG00000049396

Gene Name

gem nuclear organelle associated protein 4

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R9233 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76101397-76108398 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76103942 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 273 (I273T)

Ref Sequence

ENSEMBL: ENSMUSP00000099558 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040806] [ENSMUST00000094014] [ENSMUST00000102500] [ENSMUST00000129853] [ENSMUST00000169560] [ENSMUST00000169701]

AlphaFold

Q6P6L6

Predicted Effect

probably benign
Transcript: ENSMUST00000040806

SMART Domains

Protein: ENSMUSP00000039763
Gene: ENSMUSG00000038057

Domain	Start	End	E-Value	Type
Pfam:ACBP	3	83	7.4e-26	PFAM

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

possibly damaging
Transcript: ENSMUST00000102500
AA Change: I273T

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

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: 100.0%
10x: 99.8%
20x: 99.3%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	G	T	11: 110,082,496 (GRCm39)	T1159K	probably benign	Het
Acap1	A	G	11: 69,775,484 (GRCm39)	V479A	probably benign	Het
Actl11	A	G	9: 107,807,900 (GRCm39)	E741G	possibly damaging	Het
Anp32b	A	T	4: 46,463,909 (GRCm39)	I103F	probably damaging	Het
Ap4m1	C	T	5: 138,176,653 (GRCm39)	R418*	probably null	Het
Asic3	G	A	5: 24,618,837 (GRCm39)	R43H	probably damaging	Het
Bsn	A	G	9: 107,994,289 (GRCm39)	V662A	probably benign	Het
Cacna1a	C	T	8: 85,271,283 (GRCm39)	R479C	probably damaging	Het
Chchd3	A	T	6: 32,780,845 (GRCm39)	C214S	probably damaging	Het
Cspg4b	A	T	13: 113,502,754 (GRCm39)	Y100F		Het
Dock9	T	A	14: 121,820,781 (GRCm39)	T1538S	probably benign	Het
Dyrk1a	A	G	16: 94,466,913 (GRCm39)	M156V	probably benign	Het
Dzip1	T	C	14: 119,124,635 (GRCm39)	Q546R	probably benign	Het
Eef2	T	C	10: 81,014,668 (GRCm39)	V185A	probably benign	Het
Etv4	A	C	11: 101,662,532 (GRCm39)	V314G	probably damaging	Het
F5	T	A	1: 164,047,020 (GRCm39)	I2160N	probably damaging	Het
Fbp2	A	T	13: 62,989,622 (GRCm39)	V228E	possibly damaging	Het
Fcgbpl1	A	G	7: 27,839,519 (GRCm39)	Y444C	possibly damaging	Het
Fhip2a	T	A	19: 57,369,098 (GRCm39)	F360L	probably damaging	Het
Gcc1	A	G	6: 28,418,710 (GRCm39)	L541P	probably damaging	Het
Gm32742	T	C	9: 51,056,387 (GRCm39)	K1193E	possibly damaging	Het
Gmps	C	T	3: 63,924,133 (GRCm39)	P687L	probably damaging	Het
Gpr162	A	G	6: 124,836,014 (GRCm39)	L462P	possibly damaging	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Hspa12b	T	C	2: 130,976,036 (GRCm39)	Y13H	probably damaging	Het
Kcnh8	A	C	17: 53,285,168 (GRCm39)	E1046A	probably damaging	Het
Kcnk12	T	A	17: 88,053,538 (GRCm39)	T375S	probably benign	Het
Kdm4a	A	G	4: 118,004,193 (GRCm39)		probably null	Het
Klhl5	G	T	5: 65,300,673 (GRCm39)	V219L	possibly damaging	Het
Kpna1	A	T	16: 35,853,793 (GRCm39)	E474D	probably damaging	Het
Lama5	A	T	2: 179,840,502 (GRCm39)	Y632*	probably null	Het
Lias	A	G	5: 65,551,331 (GRCm39)	N88S	probably benign	Het
Mei1	C	T	15: 81,973,752 (GRCm39)	R80C		Het
Mical2	T	G	7: 111,981,399 (GRCm39)	S458A	probably benign	Het
Mrps33	A	G	6: 39,782,447 (GRCm39)	S25P	probably benign	Het
Mttp	T	A	3: 137,822,280 (GRCm39)	D169V	probably damaging	Het
Npdc1	A	G	2: 25,296,329 (GRCm39)	E72G	probably damaging	Het
Nsrp1	G	A	11: 76,937,036 (GRCm39)	R387W	probably benign	Het
Pcnx4	A	G	12: 72,603,587 (GRCm39)	T503A	possibly damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pigu	C	T	2: 155,178,610 (GRCm39)	V83I	possibly damaging	Het
Ppcs	G	A	4: 119,279,397 (GRCm39)	R52*	probably null	Het
Rbm33	A	G	5: 28,544,239 (GRCm39)	E165G	probably benign	Het
Rnf5	A	T	17: 34,822,326 (GRCm39)	V41E	possibly damaging	Het
Ror2	T	C	13: 53,265,590 (GRCm39)	T501A	probably benign	Het
Rps17	T	G	7: 80,993,497 (GRCm39)	M105L	probably benign	Het
Ryr2	A	T	13: 11,610,772 (GRCm39)	M4018K	possibly damaging	Het
Scarf1	A	G	11: 75,416,720 (GRCm39)	M721V	probably benign	Het
Scgb1b30	A	G	7: 33,799,184 (GRCm39)	T39A	probably damaging	Het
Selenoo	T	C	15: 88,984,044 (GRCm39)	V620A	probably damaging	Het
Slfn8	A	C	11: 82,894,422 (GRCm39)	I739R	probably damaging	Het
Smc6	A	G	12: 11,359,291 (GRCm39)	T972A	probably benign	Het
Spred1	G	A	2: 117,002,644 (GRCm39)	R221H	unknown	Het
Stag1	T	A	9: 100,812,024 (GRCm39)	M834K	probably benign	Het
Taf1a	T	C	1: 183,181,878 (GRCm39)	I177T	possibly damaging	Het
Tcam1	G	A	11: 106,175,018 (GRCm39)	D158N	probably benign	Het
Tcirg1	G	T	19: 3,952,543 (GRCm39)	T275K	probably damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tor1b	A	C	2: 30,844,015 (GRCm39)	I151L	probably benign	Het
Trappc12	T	A	12: 28,772,414 (GRCm39)	Q471L	possibly damaging	Het
Trim28	G	A	7: 12,763,490 (GRCm39)	A544T	probably benign	Het
Ugt2a2	G	A	5: 87,613,272 (GRCm39)	P288S	probably damaging	Het
Vmn1r157	T	C	7: 22,461,381 (GRCm39)	L87P	probably damaging	Het
Vmn1r188	A	G	13: 22,272,399 (GRCm39)	R118G	probably benign	Het
Vps13d	G	A	4: 144,879,344 (GRCm39)	T1493I		Het
Xrra1	T	G	7: 99,516,574 (GRCm39)	M6R	probably benign	Het
Zfp142	T	C	1: 74,610,288 (GRCm39)	E1169G	probably benign	Het
Zfp738	G	T	13: 67,819,017 (GRCm39)	R325S	possibly damaging	Het
Zmym4	A	G	4: 126,776,310 (GRCm39)	M1209T	probably damaging	Het

Other mutations in Gemin4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01412:Gemin4	APN	11	76,104,311 (GRCm39)	missense	probably benign	0.16
IGL01654:Gemin4	APN	11	76,104,224 (GRCm39)	missense	probably damaging	1.00
IGL01656:Gemin4	APN	11	76,104,636 (GRCm39)	missense	probably damaging	1.00
IGL02890:Gemin4	APN	11	76,102,090 (GRCm39)	missense	probably damaging	1.00
IGL02967:Gemin4	APN	11	76,103,067 (GRCm39)	missense	probably damaging	1.00
R0359:Gemin4	UTSW	11	76,102,988 (GRCm39)	missense	probably benign	0.02
R0413:Gemin4	UTSW	11	76,102,148 (GRCm39)	missense	probably benign	0.00
R1538:Gemin4	UTSW	11	76,101,987 (GRCm39)	missense	probably benign	0.00
R1632:Gemin4	UTSW	11	76,101,815 (GRCm39)	missense	probably benign	0.26
R1762:Gemin4	UTSW	11	76,101,876 (GRCm39)	missense	probably damaging	1.00
R1783:Gemin4	UTSW	11	76,101,876 (GRCm39)	missense	probably damaging	1.00
R1784:Gemin4	UTSW	11	76,101,876 (GRCm39)	missense	probably damaging	1.00
R1785:Gemin4	UTSW	11	76,101,876 (GRCm39)	missense	probably damaging	1.00
R1786:Gemin4	UTSW	11	76,101,876 (GRCm39)	missense	probably damaging	1.00
R1835:Gemin4	UTSW	11	76,104,122 (GRCm39)	missense	possibly damaging	0.62
R2007:Gemin4	UTSW	11	76,103,444 (GRCm39)	missense	possibly damaging	0.78
R2117:Gemin4	UTSW	11	76,101,827 (GRCm39)	missense	possibly damaging	0.59
R2131:Gemin4	UTSW	11	76,101,876 (GRCm39)	missense	probably damaging	1.00
R2133:Gemin4	UTSW	11	76,101,876 (GRCm39)	missense	probably damaging	1.00
R2140:Gemin4	UTSW	11	76,101,876 (GRCm39)	missense	probably damaging	1.00
R2141:Gemin4	UTSW	11	76,101,876 (GRCm39)	missense	probably damaging	1.00
R2142:Gemin4	UTSW	11	76,101,876 (GRCm39)	missense	probably damaging	1.00
R3937:Gemin4	UTSW	11	76,103,714 (GRCm39)	missense	probably damaging	1.00
R4112:Gemin4	UTSW	11	76,103,645 (GRCm39)	missense	probably damaging	0.99
R4444:Gemin4	UTSW	11	76,102,917 (GRCm39)	missense	probably benign	0.00
R5502:Gemin4	UTSW	11	76,104,227 (GRCm39)	nonsense	probably null
R5702:Gemin4	UTSW	11	76,101,663 (GRCm39)	missense	probably benign	0.01
R5744:Gemin4	UTSW	11	76,102,991 (GRCm39)	missense	probably damaging	1.00
R6044:Gemin4	UTSW	11	76,103,760 (GRCm39)	missense	probably benign
R6924:Gemin4	UTSW	11	76,103,162 (GRCm39)	missense	probably damaging	1.00
R6931:Gemin4	UTSW	11	76,101,782 (GRCm39)	missense	probably damaging	0.99
R7278:Gemin4	UTSW	11	76,102,932 (GRCm39)	missense	probably damaging	0.98
R7286:Gemin4	UTSW	11	76,103,579 (GRCm39)	missense	probably damaging	0.96
R7288:Gemin4	UTSW	11	76,104,206 (GRCm39)	missense	possibly damaging	0.60
R7358:Gemin4	UTSW	11	76,104,278 (GRCm39)	nonsense	probably null
R7572:Gemin4	UTSW	11	76,104,408 (GRCm39)	missense	probably damaging	1.00
R8132:Gemin4	UTSW	11	76,103,739 (GRCm39)	missense	probably benign	0.25
R8345:Gemin4	UTSW	11	76,101,605 (GRCm39)	missense	probably damaging	1.00
R8695:Gemin4	UTSW	11	76,102,656 (GRCm39)	missense	probably damaging	1.00
R8902:Gemin4	UTSW	11	76,102,848 (GRCm39)	nonsense	probably null
R9495:Gemin4	UTSW	11	76,101,749 (GRCm39)	missense	probably damaging	1.00
Z1176:Gemin4	UTSW	11	76,108,405 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- ACAGCCGGTAAGTGTCATAATTTG -3'
(R):5'- TTGGCCATGTTGCTTAACGG -3'

Sequencing Primer
(F):5'- GCCGGTAAGTGTCATAATTTGTTCCC -3'
(R):5'- CTTAACGGGCTGAAGCAGATCC -3'

Posted On

2022-02-07