Mutagenetix > Incidental Mutations

Incidental Mutation 'R6090:Gse1'

486147

Institutional Source

Beutler Lab

Gene Symbol

Gse1

Ensembl Gene

ENSMUSG00000031822

Gene Name

genetic suppressor element 1, coiled-coil protein

Synonyms

MMRRC Submission

044247-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.157) question?

Stock #

R6090 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120228456-120581390 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

C to A at 120571169 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118564 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034279] [ENSMUST00000118136] [ENSMUST00000120493] [ENSMUST00000127664]

Predicted Effect

unknown
Transcript: ENSMUST00000034279
AA Change: T707N

SMART Domains

Protein: ENSMUSP00000034279
Gene: ENSMUSG00000031822
AA Change: T707N

Domain	Start	End	E-Value	Type
low complexity region	61	73	N/A	INTRINSIC
Pfam:DUF3736	81	216	2.9e-21	PFAM
coiled coil region	329	414	N/A	INTRINSIC
Pfam:DUF3736	742	883	9.7e-46	PFAM
low complexity region	959	973	N/A	INTRINSIC
low complexity region	1103	1124	N/A	INTRINSIC
coiled coil region	1133	1207	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000118136
AA Change: T697N

SMART Domains

Protein: ENSMUSP00000112981
Gene: ENSMUSG00000031822
AA Change: T697N

Domain	Start	End	E-Value	Type
low complexity region	51	63	N/A	INTRINSIC
Pfam:DUF3736	70	203	2.2e-39	PFAM
low complexity region	204	211	N/A	INTRINSIC
coiled coil region	319	404	N/A	INTRINSIC
Pfam:DUF3736	731	874	7.5e-48	PFAM
low complexity region	949	963	N/A	INTRINSIC
low complexity region	1093	1114	N/A	INTRINSIC
coiled coil region	1123	1197	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000120493
AA Change: T694N

SMART Domains

Protein: ENSMUSP00000113577
Gene: ENSMUSG00000031822
AA Change: T694N

Domain	Start	End	E-Value	Type
low complexity region	48	60	N/A	INTRINSIC
Pfam:DUF3736	67	200	2.2e-39	PFAM
low complexity region	201	208	N/A	INTRINSIC
coiled coil region	316	401	N/A	INTRINSIC
Pfam:DUF3736	728	871	7.5e-48	PFAM
low complexity region	946	960	N/A	INTRINSIC
low complexity region	1090	1111	N/A	INTRINSIC
coiled coil region	1120	1194	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141113

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147327

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	T	6: 121,648,013	A450V	probably benign	Het
Abca8a	T	C	11: 110,063,222		probably null	Het
Adgrl3	A	T	5: 81,512,326	N246I	probably damaging	Het
Arntl2	T	A	6: 146,829,696	S500T	possibly damaging	Het
Cdipt	A	T	7: 126,976,959	M29L	possibly damaging	Het
Chml	G	T	1: 175,687,058	Y432*	probably null	Het
Clasp2	G	T	9: 113,852,735	V320L	probably benign	Het
Col12a1	G	A	9: 79,692,393	T826M	probably damaging	Het
Cpsf3	A	G	12: 21,295,193	I169V	probably damaging	Het
Dhx36	G	A	3: 62,496,820	T234M	probably damaging	Het
Dhx57	A	G	17: 80,263,946		probably null	Het
Dnah1	A	T	14: 31,269,425	I3132N	possibly damaging	Het
Fbxw20	G	T	9: 109,223,363	Q231K	probably benign	Het
Gfod1	G	T	13: 43,200,961	Y179*	probably null	Het
Glg1	T	A	8: 111,181,035	I510F	probably damaging	Het
Gm10801	TC	TCGGC	2: 98,663,806		probably benign	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Klrd1	T	C	6: 129,595,536	L97P	probably damaging	Het
Lgmn	A	T	12: 102,400,154	M240K	probably damaging	Het
Lrp1b	A	G	2: 41,185,868		probably null	Het
Notch2	A	T	3: 98,135,377	R1353*	probably null	Het
Olfr141	A	C	2: 86,806,357	V214G	possibly damaging	Het
Olfr715b	A	G	7: 107,106,249	V204A	possibly damaging	Het
Pcdhb14	G	A	18: 37,448,606	S255N	probably benign	Het
Pcgf2	C	T	11: 97,690,991	M25I	possibly damaging	Het
Poll	G	T	19: 45,555,997	D328E	probably benign	Het
Pomgnt2	A	T	9: 121,982,797	L306Q	probably damaging	Het
Proser1	A	T	3: 53,478,667	M657L	probably benign	Het
Rbm47	G	C	5: 66,026,283	R326G	probably damaging	Het
Rdh11	G	T	12: 79,189,064	P37T	probably benign	Het
Rsph10b	A	T	5: 143,977,128	I286L	probably benign	Het
Sept4	G	A	11: 87,589,517	R238K	possibly damaging	Het
Sptan1	C	T	2: 29,993,887	R580C	probably damaging	Het
Stard9	T	A	2: 120,693,654	W777R	probably damaging	Het
Timd2	T	C	11: 46,687,236	T23A	probably benign	Het
Tmc4	A	G	7: 3,671,053	Y376H	probably damaging	Het
Tmem143	A	G	7: 45,909,526	I297M	probably benign	Het
Togaram1	A	G	12: 64,967,801	T609A	probably benign	Het
Tyw3	T	C	3: 154,597,067	H10R	probably benign	Het
Unc13b	C	A	4: 43,239,306	H3456Q	probably damaging	Het
Zfp131	A	T	13: 119,775,996	H275Q	probably damaging	Het

Other mutations in Gse1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01407:Gse1	APN	8	120553587	start codon destroyed	probably null	0.79
IGL02484:Gse1	APN	8	120575262	intron	probably benign
IGL02931:Gse1	APN	8	120578069	intron	probably benign
IGL03193:Gse1	APN	8	120571340	critical splice donor site	probably null
R0027:Gse1	UTSW	8	120566546	intron	probably benign
R0109:Gse1	UTSW	8	120567785	missense	probably damaging	1.00
R0257:Gse1	UTSW	8	120572334	intron	probably benign
R0967:Gse1	UTSW	8	120570855	intron	probably benign
R1395:Gse1	UTSW	8	120574999	intron	probably benign
R1480:Gse1	UTSW	8	120572394	intron	probably benign
R1532:Gse1	UTSW	8	120568210	intron	probably benign
R1649:Gse1	UTSW	8	120578515	intron	probably benign
R1728:Gse1	UTSW	8	120568253	intron	probably benign
R1742:Gse1	UTSW	8	120566950	missense	probably damaging	1.00
R1784:Gse1	UTSW	8	120568253	intron	probably benign
R2081:Gse1	UTSW	8	120566480	missense	probably damaging	1.00
R2110:Gse1	UTSW	8	120566980	missense	probably damaging	1.00
R2974:Gse1	UTSW	8	120570897	intron	probably benign
R3615:Gse1	UTSW	8	120572742	intron	probably benign
R3616:Gse1	UTSW	8	120572742	intron	probably benign
R3857:Gse1	UTSW	8	120571133	intron	probably benign
R4201:Gse1	UTSW	8	120567764	missense	probably benign	0.39
R4494:Gse1	UTSW	8	120570814	intron	probably benign
R4857:Gse1	UTSW	8	120572757	intron	probably benign
R4911:Gse1	UTSW	8	120568466	intron	probably benign
R5640:Gse1	UTSW	8	120562677	missense	possibly damaging	0.65
R5782:Gse1	UTSW	8	120566521	missense	probably damaging	1.00
R5980:Gse1	UTSW	8	120229637	intron	probably benign
R6156:Gse1	UTSW	8	120489127	missense	possibly damaging	0.95
R6191:Gse1	UTSW	8	120553803	critical splice donor site	probably null
R6270:Gse1	UTSW	8	120569163	intron	probably benign
R6502:Gse1	UTSW	8	120553689	splice site	probably null
R6573:Gse1	UTSW	8	120567797	missense	probably damaging	1.00
R6885:Gse1	UTSW	8	120229482	intron	probably benign
R6901:Gse1	UTSW	8	120229822	intron	probably benign
R6959:Gse1	UTSW	8	120570971	intron	probably benign
R7023:Gse1	UTSW	8	120230648	intron	probably benign
R7210:Gse1	UTSW	8	120230702	missense	unknown
R7263:Gse1	UTSW	8	120574171	missense	unknown
R7449:Gse1	UTSW	8	120229711	missense	unknown
R7602:Gse1	UTSW	8	120569304	missense	unknown
R7627:Gse1	UTSW	8	120572777	missense	unknown
R7635:Gse1	UTSW	8	120572895	missense	unknown
R7689:Gse1	UTSW	8	120568478	missense	unknown
R8108:Gse1	UTSW	8	120229810	missense	unknown
R8326:Gse1	UTSW	8	120578580	missense	unknown
R8474:Gse1	UTSW	8	120568384	intron	probably benign
R8544:Gse1	UTSW	8	120553652	missense	probably damaging	1.00
X0026:Gse1	UTSW	8	120568163	nonsense	probably null
Z1177:Gse1	UTSW	8	120229852	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GCGAGTTTATTGCTCAGAGAAGG -3'
(R):5'- TTGCACTGTAAGTTAAAAGTGGGAG -3'

Sequencing Primer
(F):5'- TTTATTGCTCAGAGAAGGCAGAG -3'
(R):5'- CCCATTCCCAGGAAGGTTG -3'

Posted On

2017-08-16