Mutagenetix > Incidental Mutation

Incidental Mutation 'R5896:Gemin7'

457514

Institutional Source

Beutler Lab

Gene Symbol

Gemin7

Ensembl Gene

ENSMUSG00000044709

Gene Name

gem nuclear organelle associated protein 7

Synonyms

2400008I04Rik

MMRRC Submission

044095-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.315) question?

Stock #

R5896 (G1)

Quality Score

161

Status

Validated

Chromosome

Chromosomal Location

19298874-19307268 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 19299223 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 124 (S124F)

Ref Sequence

ENSEMBL: ENSMUSP00000113709 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051364] [ENSMUST00000058444] [ENSMUST00000117222] [ENSMUST00000119912] [ENSMUST00000122055] [ENSMUST00000122127] [ENSMUST00000151646] [ENSMUST00000208826]

AlphaFold

Q9CWY4

Predicted Effect

probably damaging
Transcript: ENSMUST00000051364
AA Change: S124F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000055844
Gene: ENSMUSG00000044709
AA Change: S124F

Domain	Start	End	E-Value	Type
low complexity region	4	20	N/A	INTRINSIC
Pfam:Gemin7	50	129	1.9e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000058444

SMART Domains

Protein: ENSMUSP00000060233
Gene: ENSMUSG00000051403

Domain	Start	End	E-Value	Type
low complexity region	7	38	N/A	INTRINSIC
Blast:LRR	139	166	1e-9	BLAST
LRR	224	251	1.77e2	SMART
LRR	252	280	3.52e-1	SMART
LRR	281	308	8.27e-7	SMART
LRR	310	337	3.05e1	SMART
LRR	338	365	1.4e-4	SMART
LRR	366	393	1.56e-2	SMART
LRR	394	421	2.36e-2	SMART
low complexity region	504	540	N/A	INTRINSIC
low complexity region	566	574	N/A	INTRINSIC
low complexity region	596	628	N/A	INTRINSIC
low complexity region	660	679	N/A	INTRINSIC
low complexity region	696	702	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000117222
AA Change: S124F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113266
Gene: ENSMUSG00000044709
AA Change: S124F

Domain	Start	End	E-Value	Type
low complexity region	4	20	N/A	INTRINSIC
Pfam:Gemin7	50	129	1.9e-45	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000119912
AA Change: S124F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000112742
Gene: ENSMUSG00000044709
AA Change: S124F

Domain	Start	End	E-Value	Type
low complexity region	4	20	N/A	INTRINSIC
Pfam:Gemin7	50	129	1.9e-45	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000122055
AA Change: S124F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113583
Gene: ENSMUSG00000044709
AA Change: S124F

Domain	Start	End	E-Value	Type
low complexity region	4	20	N/A	INTRINSIC
Pfam:Gemin7	50	129	1.9e-45	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000122127
AA Change: S124F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113709
Gene: ENSMUSG00000044709
AA Change: S124F

Domain	Start	End	E-Value	Type
low complexity region	4	20	N/A	INTRINSIC
Pfam:Gemin7	50	129	1.9e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000151646

SMART Domains

Protein: ENSMUSP00000116207
Gene: ENSMUSG00000044709

Domain	Start	End	E-Value	Type
low complexity region	4	20	N/A	INTRINSIC
Pfam:Gemin7	50	81	7e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000208826

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.3%
20x: 91.5%

Validation Efficiency

99% (86/87)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a component of the core SMN complex, which is required for pre-mRNA splicing in the nucleus. The encoded protein is found in the nucleoplasm, in nuclear "gems" (Gemini of Cajal bodies), and in the cytoplasm. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	A	T	16: 88,504,321 (GRCm39)	S159T	probably damaging	Het
2610028H24Rik	T	A	10: 76,288,664 (GRCm39)	M53K	probably benign	Het
3425401B19Rik	G	A	14: 32,383,632 (GRCm39)	Q778*	probably null	Het
Abhd16a	T	A	17: 35,310,701 (GRCm39)		probably benign	Het
Acp6	A	G	3: 97,075,810 (GRCm39)	K226R	probably benign	Het
Ankfy1	A	G	11: 72,650,811 (GRCm39)	D998G	probably damaging	Het
Apbb1	G	T	7: 105,223,432 (GRCm39)	P60T	probably damaging	Het
Apol9a	T	A	15: 77,288,705 (GRCm39)	I221F	probably benign	Het
Arhgap29	A	G	3: 121,805,736 (GRCm39)	E947G	possibly damaging	Het
B430218F22Rik	A	T	13: 118,523,934 (GRCm39)		probably benign	Het
Carmil3	ACCCCC	ACCCCCCC	14: 55,741,456 (GRCm39)		probably null	Het
Ccdc69	C	T	11: 54,943,716 (GRCm39)		probably null	Het
Ccdc93	G	T	1: 121,390,849 (GRCm39)	V274L	possibly damaging	Het
Cdc25a	A	G	9: 109,713,433 (GRCm39)	D191G	probably benign	Het
Cimip2a	A	T	2: 25,110,578 (GRCm39)	M129L	probably benign	Het
Cmya5	A	G	13: 93,182,373 (GRCm39)		probably null	Het
Crebzf	TGGAGGAGGAGGAGGAGGA	TGGAGGAGGAGGAGGA	7: 90,092,479 (GRCm39)		probably benign	Het
Csde1	T	C	3: 102,947,859 (GRCm39)		probably benign	Het
Ctdp1	A	G	18: 80,502,003 (GRCm39)	L177P	probably damaging	Het
Dnah5	T	A	15: 28,272,206 (GRCm39)	H1003Q	probably benign	Het
Epb41l2	T	A	10: 25,369,494 (GRCm39)	N604K	probably damaging	Het
Fig4	T	A	10: 41,130,881 (GRCm39)	N465Y	possibly damaging	Het
Gli3	G	A	13: 15,900,765 (GRCm39)	R1384K	probably benign	Het
Gm12258	G	A	11: 58,750,457 (GRCm39)	C544Y	probably damaging	Het
Grm1	C	T	10: 10,956,294 (GRCm39)		probably benign	Het
H2-T15	T	A	17: 36,367,236 (GRCm39)	M329L	probably benign	Het
Hps4	C	T	5: 112,517,351 (GRCm39)	T246I	probably benign	Het
Ifngr2	A	T	16: 91,358,653 (GRCm39)	E284D	possibly damaging	Het
Impdh2	A	G	9: 108,441,165 (GRCm39)	T148A	probably benign	Het
Irx3	T	C	8: 92,527,763 (GRCm39)	S36G	probably benign	Het
Itga5	T	A	15: 103,259,514 (GRCm39)	K667N	probably benign	Het
Itgad	G	A	7: 127,773,188 (GRCm39)	C15Y	probably benign	Het
Ly75	T	G	2: 60,213,490 (GRCm39)	E29A	probably benign	Het
Magi1	T	A	6: 93,685,180 (GRCm39)	S506C	probably damaging	Het
Map4	G	A	9: 109,901,702 (GRCm39)	V781M	possibly damaging	Het
Med23	T	C	10: 24,778,043 (GRCm39)	L797P	probably damaging	Het
Naip1	C	T	13: 100,559,636 (GRCm39)	G1123R	probably benign	Het
Ncor1	G	T	11: 62,274,016 (GRCm39)	P55Q	probably damaging	Het
Odr4	A	T	1: 150,256,111 (GRCm39)	N211K	probably benign	Het
Ofcc1	T	A	13: 40,334,060 (GRCm39)	I344F	probably benign	Het
Or4a74	C	A	2: 89,439,667 (GRCm39)	V260F	probably damaging	Het
Or4d5	A	T	9: 40,012,189 (GRCm39)	M199K	probably damaging	Het
Or5d35	A	G	2: 87,855,465 (GRCm39)	Y133C	probably damaging	Het
Or5k1	G	A	16: 58,618,095 (GRCm39)	T38I	probably damaging	Het
Otub2	C	T	12: 103,369,687 (GRCm39)		probably benign	Het
Parva	A	G	7: 112,143,960 (GRCm39)	M83V	probably benign	Het
Pcdha8	T	A	18: 37,126,572 (GRCm39)	N351K	probably benign	Het
Pcdhb5	T	A	18: 37,455,732 (GRCm39)	L704*	probably null	Het
Pkd1l3	T	A	8: 110,353,468 (GRCm39)	L683H	probably damaging	Het
Plekhn1	C	T	4: 156,308,331 (GRCm39)	R288H	probably benign	Het
Polr2a	A	T	11: 69,627,086 (GRCm39)	N1457K	probably damaging	Het
Ppp1r12b	A	G	1: 134,693,719 (GRCm39)	S981P	probably damaging	Het
Ppp1r9a	A	G	6: 5,159,648 (GRCm39)	K1062E	probably damaging	Het
Ptpre	A	T	7: 135,276,007 (GRCm39)	T498S	probably benign	Het
Pus7l	C	T	15: 94,427,332 (GRCm39)		probably null	Het
Rptn	C	T	3: 93,305,639 (GRCm39)	Q991*	probably null	Het
Rsu1	T	G	2: 13,229,170 (GRCm39)	E76A	probably damaging	Het
Septin11	T	A	5: 93,304,824 (GRCm39)	F214I	probably damaging	Het
Slc1a7	G	T	4: 107,869,587 (GRCm39)	A551S	probably benign	Het
Slc45a2	T	A	15: 11,000,941 (GRCm39)	Y13*	probably null	Het
Slc7a14	T	G	3: 31,311,719 (GRCm39)	L100F	probably damaging	Het
Slit3	A	G	11: 35,598,932 (GRCm39)	E1512G	probably damaging	Het
Stat5a	A	G	11: 100,767,883 (GRCm39)	Q458R	possibly damaging	Het
Svep1	T	C	4: 58,084,906 (GRCm39)	T1811A	possibly damaging	Het
Tarbp1	A	G	8: 127,179,667 (GRCm39)	F624L	probably benign	Het
Tfeb	T	G	17: 48,070,433 (GRCm39)		probably null	Het
Tnxb	G	A	17: 34,891,126 (GRCm39)	G490R	probably damaging	Het
Tra2b	T	C	16: 22,077,953 (GRCm39)	Y32C	probably damaging	Het
Trpv4	C	T	5: 114,760,708 (GRCm39)		probably benign	Het
Uvrag	A	T	7: 98,637,414 (GRCm39)	L138*	probably null	Het
Vwf	A	T	6: 125,655,725 (GRCm39)		probably null	Het
Wdr47	G	A	3: 108,526,322 (GRCm39)	D282N	probably damaging	Het
Xirp2	A	G	2: 67,340,290 (GRCm39)	N844D	possibly damaging	Het
Xirp2	A	G	2: 67,339,042 (GRCm39)	M428V	probably benign	Het
Znfx1	G	A	2: 166,880,920 (GRCm39)	T288I	probably damaging	Het

Other mutations in Gemin7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02750:Gemin7	APN	7	19,299,344 (GRCm39)	missense	probably null	1.00
PIT4377001:Gemin7	UTSW	7	19,299,242 (GRCm39)	nonsense	probably null
R5020:Gemin7	UTSW	7	19,299,348 (GRCm39)	missense	possibly damaging	0.61

Predicted Primers

PCR Primer
(F):5'- CCAGGCAGTATCTGGTTTGG -3'
(R):5'- CGGAGAAGGTCATATTCAAGATCC -3'

Sequencing Primer
(F):5'- GAGTTCCTCTGAGTTCAAAGCCAG -3'
(R):5'- GGTCATATTCAAGATCCCCCAGAGTC -3'

Posted On

2017-02-15