Mutagenetix > Incidental Mutations

Incidental Mutation 'R3616:Gse1'

268404

Institutional Source

Beutler Lab

Gene Symbol

Gse1

Ensembl Gene

ENSMUSG00000031822

Gene Name

genetic suppressor element 1, coiled-coil protein

Synonyms

MMRRC Submission

040673-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.187) question?

Stock #

R3616 (G1)

Quality Score

179

Status

Validated

Chromosome

Chromosomal Location

120228456-120581390 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

C to G at 120572742 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118564 (fasta)

Gene Model

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

AlphaFold

Q3U3C9

Predicted Effect

unknown
Transcript: ENSMUST00000034279
AA Change: P837R

SMART Domains

Protein: ENSMUSP00000034279
Gene: ENSMUSG00000031822
AA Change: P837R

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: P827R

SMART Domains

Protein: ENSMUSP00000112981
Gene: ENSMUSG00000031822
AA Change: P827R

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: P824R

SMART Domains

Protein: ENSMUSP00000113577
Gene: ENSMUSG00000031822
AA Change: P824R

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

Meta Mutation Damage Score

0.1471

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (29/29)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	A	G	4: 42,971,864	N399S	probably benign	Het
A2ml1	T	C	6: 128,558,294	T818A	probably benign	Het
Aasdh	A	G	5: 76,888,782	V304A	probably benign	Het
Angptl3	G	A	4: 99,034,465	A248T	probably benign	Het
Ap2b1	T	A	11: 83,324,565	C112S	possibly damaging	Het
Aqr	A	T	2: 114,136,887	I549N	probably damaging	Het
Barhl1	C	T	2: 28,911,550	D161N	possibly damaging	Het
Col28a1	A	G	6: 8,014,942	V821A	probably damaging	Het
Dclk2	G	A	3: 86,920,035	P46S	probably damaging	Het
Dnah1	A	G	14: 31,315,148	L247P	possibly damaging	Het
Dpysl2	T	A	14: 66,834,370	H107L	probably damaging	Het
Dzip3	A	G	16: 48,937,063	L869S	probably damaging	Het
Efs	T	C	14: 54,920,095	Y160C	probably damaging	Het
Enam	A	T	5: 88,504,447	N1197Y	possibly damaging	Het
Espl1	A	G	15: 102,312,989	I944V	probably damaging	Het
Fam184b	A	G	5: 45,582,815	V343A	possibly damaging	Het
Fbxw26	A	T	9: 109,743,760	Y105*	probably null	Het
Fiz1	A	G	7: 5,008,172	L449P	probably benign	Het
Foxi2	T	A	7: 135,410,451	C23S	possibly damaging	Het
Gdf2	G	A	14: 33,944,957	R212Q	probably damaging	Het
Gm5105	C	A	3: 138,049,688	A46S	unknown	Het
Gm597	T	C	1: 28,776,575	D792G	probably benign	Het
Grik5	C	T	7: 25,022,571	A581T	probably benign	Het
Hsp90aa1	T	A	12: 110,695,680	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,695,681		probably null	Het
Kif1b	A	T	4: 149,262,283		probably benign	Het
Krt25	A	C	11: 99,317,298	V368G	possibly damaging	Het
Lacc1	A	G	14: 77,033,287	V269A	probably benign	Het
Lamc1	T	C	1: 153,251,150	K417E	probably damaging	Het
Miip	A	G	4: 147,865,914	M75T	probably benign	Het
Nlrp10	A	G	7: 108,924,476	F599S	probably benign	Het
Nlrp12	T	A	7: 3,240,575	M436L	probably benign	Het
Olfr142	T	C	2: 90,252,409	E193G	possibly damaging	Het
Pafah1b1	G	A	11: 74,690,232	S57F	probably damaging	Het
Pard6b	T	C	2: 168,087,339		probably benign	Het
Pla2g2e	G	A	4: 138,880,374	V22I	probably benign	Het
Plekhd1	A	G	12: 80,717,270	E202G	probably damaging	Het
Prss21	A	G	17: 23,872,831	T258A	probably benign	Het
Prss34	A	G	17: 25,298,846	E65G	probably benign	Het
Psap	A	G	10: 60,294,603	N149S	probably benign	Het
Ptprf	C	T	4: 118,237,883	A275T	probably benign	Het
Sem1	A	G	6: 6,578,520	L12P	probably damaging	Het
Sf3b3	A	G	8: 110,844,523	Y4H	probably damaging	Het
Sh3bp4	G	T	1: 89,137,705	R7L	probably damaging	Het
Slc16a1	T	A	3: 104,653,570	L397Q	probably damaging	Het
Smg5	A	G	3: 88,336,451	S10G	possibly damaging	Het
Smr2	AT	ATT	5: 88,108,824		probably null	Het
Tas2r102	C	T	6: 132,762,818	Q230*	probably null	Het
Tdo2	A	G	3: 81,975,428	Y13H	possibly damaging	Het
Tmem231	C	T	8: 111,918,313	R187H	possibly damaging	Het
Tmem30b	A	G	12: 73,545,579	M254T	probably damaging	Het
Trpm1	G	A	7: 64,243,570	G1057R	probably damaging	Het
Tusc3	A	T	8: 39,164,838	K347N	probably damaging	Het
Usp36	C	T	11: 118,276,759		probably null	Het
Vash2	T	C	1: 190,970,419	Y117C	probably damaging	Het
Vrk2	A	G	11: 26,489,866	I235T	possibly damaging	Het
Wdr20	A	G	12: 110,793,939	T420A	probably benign	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
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
R6090:Gse1	UTSW	8	120571169	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
R8783:Gse1	UTSW	8	120576378	missense	unknown
R8817:Gse1	UTSW	8	120567803	missense	probably damaging	1.00
R8886:Gse1	UTSW	8	120570731	missense	unknown
R8896:Gse1	UTSW	8	120576446	missense	unknown
R9044:Gse1	UTSW	8	120230530	missense	unknown
R9130:Gse1	UTSW	8	120568313	missense	unknown
R9185:Gse1	UTSW	8	120568169	missense	possibly damaging	0.95
R9398:Gse1	UTSW	8	120576335	missense	unknown
R9430:Gse1	UTSW	8	120572310	missense	unknown
X0026:Gse1	UTSW	8	120568163	nonsense	probably null
Z1177:Gse1	UTSW	8	120229852	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TACACAGTGTGAAGCTGACGG -3'
(R):5'- GTGCCAGAGTAGAGTGTGAC -3'

Sequencing Primer
(F):5'- ACGGTGGTGGCTTCACACTC -3'
(R):5'- AGGCCAACTCTGCAGCTC -3'

Posted On

2015-02-19